Peyton's Story

Peyton’s story begins long before she was born when her father, Travis, and I met in high school. We were high school sweethearts but before graduating went our separate ways. I went on to marry another for almost 8 years. He moved out of the state but remained single. Fifteen year passed before I contacted him. A year later I moved to California to be with him. Since both of our families were in Utah as was my job we were on our own without a safety net.

We knew we wanted children and because of our age, decided to get started immediately. We were thrilled to discover I was pregnant within just a few weeks of trying but just days later and only three days before our wedding – I suffered a miscarriage. But our hopes soared quickly when less than a month later we had another positive pregnancy test. We felt certain that it would be a girl. I remember hearing of the show Peyton Place as a child and loved the name. So just days after discovering the pregnancy we had named our baby to be Peyton mere weeks before Peyton Manning won the Super Bowl!

The pregnancy seemed to progress well until about the 25th week when I went into preterm labor. After some rest and fluids the contractions stopped but it was our first hint this pregnancy could be at risk. At about 32 weeks I surprised Travis with a 3D ultrasound. The technician had previously worked in a high risk maternal fetal group and was seeing some things that concerned her. She recommended we have the hospital perform another ultrasound. Within days of that ultrasound I got a call from my obstetrician recommending we seek yet another ultrasound at the high risk maternal fetal group in the area. After two ultrasounds that were concerning we weren’t surprised that after the third ultrasound was completed the geneticist wanted to meet with us. Peyton was showing signs of a syndrome but at the time they didn’t know which it was. She had micrognathia as well as several measurements that were smaller than average. Just weeks out from delivery the geneticist let us know that there was nothing more to be done and we would have to wait until after she was born to learn more.

On my hospital tour I had already discovered that it did not have the highest level NICU and with a potential airway issue I consulted my obstetrician about potentially transferring my case to another hospital but she did not seem concerned. I also recommended a scheduled c section to ensure all the necessary specialists were in place but also due to my mother’s history of barely making it to the hospital for delivery. Again, I was rebuffed so I hunkered down to wait for labor to begin. We had a few weeks to contemplate the news that Peyton may have some medical issues, but without any knowledge of the particular syndrome there was no ability to prepare for what was to come.

I was four days past due when my labor pains started. When I first realized they were contractions they were only 3 minutes apart. When I called my obstetrician she didn’t seem overly concerned since they weren’t very painful and suggested I stay home until they worsened. Within minutes of hanging up the phone with her they intensified and by the time we made it to the hospital about 15 minutes later there was no mistaking that I was in labor. I was only dilated to a one, though so they initially considered sending me home but just a few minutes after that assessment Peyton’s heart rate dropped. The room filled with people and after having me change positions her numbers returned to a healthy level. The scare coupled with my rapidly progressing labor, they decided to go ahead and put me in a room but just moments after getting me there Peyton’s heart rate dropped a second time and they were having a difficult time getting it back up. A quick decision was made to proceed to the operating room for an emergency c-section.

Initially I was focused on getting the epidural and as the painful haze was replaced by numbness I realized she was out but it was not like any baby show I had ever seen. They immediately moved her behind where my husband sat and I caught a glimpse of thick, black hair but no one said a word. I looked at my husband and above the mask saw my fear reflected in his own eyes when I kept asking why she wasn’t crying. He just shook his head because he didn’t have any answers either. Within moments he was hustled out of the operating room and I don’t remember anything else until I woke up in recovery later.

I am not sure how long I was out, but Travis had been taken to a small waiting room. During that time he made some panicked calls to family back in Utah. Eventually, a nurse brought him back to the NICU to see Peyton. Early on we were told that Peyton was in respiratory distress and due to her abnormally small jaw her airway was tiny. After reading her medical records, I later learned that the umbilical cord was wrapped around her neck twice and she had aspirated meconium, further compromising her ability to breathe. In that first hour, they tried twice to intubate her and were not able to so they had an ambulance on the way to pick her up and transport her to UC Davis Medical Center because they had the highest level NICU in the area. Before the transport team took her away, they wheeled her incubator to my room so I had a chance to see her. Travis had a few moments to check on me before he followed her to the hospital. My sister and brother were on a plane within hours of my husband’s call and they helped to keep me entertained while he was monitoring Peyton’s condition. Later that evening he returned to the hospital I was at and for the first and virtually only time, he broke down. I must still have been in shock because as he was crying I felt completely unemotional. I was so distant that my sister expressed concern to her husband on the phone that night. It wasn’t until the next morning when I called the NICU to check on Peyton’s status that it all came crashing down. When the NICU nurse asked me who I was I sobbed as I said, “I’m her mother”.

That first day, Travis had to make a decision to allow a breathing tube and a PICC line. I was released on her third day of life and had one opportunity to see her before we had to make the difficult decision to allow the doctor’s to perform a tracheostomy. I didn’t realize it at the time but I was suffering from a spinal fluid leak. Despite going in for a blood patch on the fourth day of her life, it didn’t work and it took a week before I could stand without agonizing headaches. But during that week, I refused to let it stop me from seeing her and after a 30 minute drive to the hospital each way, I would walk several football fields to get from the parking lot to her bedside with my head throbbing and recovering from the c section. It was my first taste of what it meant to ignore my needs in lieu of hers.

Within the first week of her life, the geneticist at UC Davis informed us that they believed Peyton had Nager Syndrome. It was very rare – at the time there were less than 100 diagnosed cases. There was no genetic test so the diagnosis was made on her clinical symptoms: micrognathia, abnormal palate, overlapping toes, fused bones at the elbow, shortened forearms and her craniofacial differences. We would later learn she had no ear canals and had severe hearing loss in both ears and also had aortic valve disease. Peyton would spend six weeks in the NICU and during that time she would have a feeding tube placed. When she finally came home our house was full of machines and medical supplies. We were so fortunate to have nursing because without any family or friends close we had a lot to learn.



In May of 2010, we moved to Utah to be closer to our families and we are currently living in Sandy. Peyton is now four and attending preschool.

She is still trached and still has a feeding tube. There is probably no chance of either being removed in the next several years. In the last year she was also diagnosed with asthma with her trigger being cold & flu. But despite nine upper respiratory infections over five months last year we avoided any hospitalizations. She is healthy and her airway is stable, in fact she can spend most of the day with a cap over her trach tube. She has had three hand surgeries and two jaw distractions and will have plenty more surgeries in her future.

Peyton is a firecracker with a very engaging, dynamic personality. She is outgoing and social despite her speech difficulties.

With the recent addition of an iPad with a communication app we are hoping she will have the ability to communicate more easily with others. Because there is no data on the likelihood of having another child with the syndrome, we have chosen not to have any additional children, but Peyton is kept company by her two furry brothers – Henry and Chili. She also has two sides of her family that spoil her rotten and embrace everything about her – we are so fortunate in that regard.

A few weeks before her birth, I started a blog and it became a source for family and friends to follow her progress. Years and eight hard bound books later, it is a baby book beyond anything I could have imagined. Not only does it track her medical progress but it gives a peek into her world – the good, the bad and the ugly.

We derive support from many sources – tracheostomy.com, the Nager and Miller Foundation, Hope Kids, and the blogs of other special needs parents and our family and friends. Finding the Kidz website is just one more place to feel acceptance and understanding and we are excited to be a part of it!

By Peyton's mom, Tracy. You can read more about their journey on their blog, Peyton's Place.

4P Aussie Kidz

I was so impressed to hear that Ellie's mom, Melissa, started an organization to help others. I had to share a little about the organization as well as a touching video.....

4P Aussie Kidz is the only Australian organization that exists to provide financial assistance and support to families with children who have Wolf Hirschhorn Syndrome (WHS)

Wolf Hirschhorn Syndrome refers to a condition that is the result of a genetic error on chromosome 4. It is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-.

If you are in the area and can support their October 22 event, go here to purchase tickets.

Josiah's Time

Josiah Viera is just 27 inches tall and weighs 15 pounds. He has a genetic disease called Progeria, meaning "prematurely old." He dreams to play on an organized baseball team in his hometown of Hegins, Pa.
http://espn.go.com/video/clip?id=5788144

Chromosome Disorder Outreach

Every child is special. Every child has talents and abilities. Every child has value. Every life has purpose.

Enjoying a Journey

Today's post is from Jennie, the newest member of the kidz krew! You can follow Jennie's story on her blog Enjoying a Journey. And here is her son's story....

First of all, I’m so happy to be a part of KIDZ. Raising a child with a disability can be overwhelming at times. I’ve only recently joined your community and already have felt a strong sense of strength and support. It is nice to know there are other moms and dads out there who share our family’s hopes and fears and also on occasion, our frustrations.

Hi, my name is Jennie. I’m a mother to four fabulous children, one of which has special needs. My beautiful boy, Jackson, is now ten years old. His name was chosen before birth. I always loved the movie, Steel Magnolia’s – a little cheesy, I know. But, it spoke to me. The movie conveyed a sense of sisterhood, family, trials, and endurance. It taught me that with a support system and sometimes a good cry, you can do anything. Now, over twenty years later, it seems a little more than the name of Shelby’s fiancé has carried over into my life.

Five months into my second pregnancy and through various ultra sounds, we were told Jackson had brain structure anomalies. Our fears were calmed when the prognosis was slight developmental delay. Our baby may just be slow to learn to walk. Oh, if that would have only been true, life would have been a lot simpler; less adventurous, but certainly more simple.

Instead we started our specialist appointments on day two after our hospital release. Doctor visits and therapy have continued ever since. As we searched for answers and solutions, delayed development, therapy, blood work, every type of specialist available, communication disorder, apraxia, failure to thrive, surgeries, pervasive development disorder, autism spectrum, and genetic testing became regular parts of our vocabulary, schedule and life. However patience, diligence, hard work, lots of faith, prayer and hope, seemed to have been the key for some relief, although, answers still would not be ours for another seven years.

In 2006, a new genetic test was developed. CGH Microarray changed our lives. This new technology was able to identify deletions or duplications that had taken place in DNA during development. Prior to this technology, only certain known syndromes could be tested for through blood work; thus, the reason for our unanswered diagnosis. Who would have thought to test for a small piece of DNA on the long arm of chromosome seven? No one.

The spring of 2007 set us on a new course when a correct diagnosis was finally made. Even though it was hard to hear that yes, a problem had been identified, it was also such a blessing and a relief to finally have a name for Jackson’s delays. It wasn’t a matter of bad parenting or a stubborn child. There was a reason why our child was unable to speak, was consistently fussy and hard to handle, a reason he struggled to develop relationships with others, and had difficulty learning to run, play and progress like his older sister. The name for our struggle was 7q11.23 Duplication. We would learn Jackson was one of only about 11 in the world known to have this disorder. I immediately tried to find others who knew what we were going through and who could identify with the challenges in our life.

Although we have a large family who loves and cares for us, we felt somewhat isolated. We weren’t sure where we fit into the world of special needs and we were often teaching doctors and therapists about the disorder. After learning all we could about 7q Dupe through our geneticist and through the limited information available online, a friend of mine pointed us to an organization in the UK called, UNIQUE. They specialize in providing support and information for individuals and families who have rare chromosome disabilities. Through the UNIQUE organization, I found two other mothers in the United States whose children share the 7q Duplication. I immediately searched them out.

Three years later, our efforts of supporting one another have led to the formation of a new non-profit organization called, Duplication Cares. Not only do we support the families and individuals with 7q Dupe, but steps are being taken to educate the medical community about the differences between the duplication and Autism. As with so many other syndromes, 7q Duplication mirrors autism and a large percentage of the children diagnosed with the duplication have also received an autism spectrum diagnosis. We now know there is treatment to help our children with the duplication. There is hope. Through hard work, progress can be made.

Our numbers have grown. Our small band of warriors is approaching 50 individuals in the United States. Our kids struggle with speech, social interactions, anxiety, behavior, and are developmentally delayed. Jackson also has a thin corpus callosum and enlarged brain ventricles which contribute to his delay.

At various times in our life, we’ve felt Jackson’s syndrome has been invisible to the outside world. This can be a blessing or a curse. Yes, at first glance, Jackson may seem like a shy, typical, ten year old boy. People have even commented about how lucky we are and that things could obviously be more severe. While that is certainly true, and we are immensely grateful for Jackson’s cognitive and physical abilities, we also have passed through the stages of grief and frustration every parent of a special needs child experiences.

Upon further interaction with Jackson, one would notice his lack of interest in carrying on a conversation. When “hard” questions like “What do you like to do?” are asked, Jackson becomes easily agitated. You may think it odd to find such a physically mature boy still clinging to his mom when he crosses a street, anxiety ridden that a car might approach. It will be concerning to see him have a meltdown when he didn’t get the first shower of the night or secure the middle bar stool at meal times. It will be easy to identify when medication in no longer effective and when ADHD, anxiety, and ODD take over. Yes, on the outside, our boy is not the typical, special needs child, but then again…. What is typical?

Our journey may be different from many of yours. However, I know a few things to be true. We all love our children and want desperately for them to be happy. We want them to be able to grow and mature and develop to their full capacity. We each have different struggles but I also know we each need support. Being a parent of a special needs child is often daunting; the therapy, the appointments, the procedures, the melt downs, the setbacks, and of course, the red tape. However, we also know the joys. We’ve met kindred souls who might not have otherwise crossed our paths. We are giddy with joy when our child speaks after years of therapy and silence. We celebrate each milestone and every acquired ability. And, we truly do know what it means to enjoy the journey.

This is Our Life

by Amanda of Grace's Journey.


After 2 years of trying to get pregnant, we had just started menstrual cycle medication to regulate my cycle, as I have a sometimes 2 month break, sometimes 5 month break between cycles. The medication didn’t work, and I was worried, but then I received a call saying it didn’t work because I was already pregnant! The pregnancy went great! I was slightly nauseous some of the time, but other than that, I was thoroughly enjoying my pregnancy. All the checkups seemed to be going ok, but I was always worried about how small I was. I mean, at 2 weeks before pregnancy, people at my work still didn’t know I was pregnant!! There had always been fears throughout my pregnancy because there seemed to be a lack of fluid, and at times, there were periods of time where she wouldn’t move for 10 hours. I would always go in and get checked, and everything would be “fine”. All the ultrasounds came out normal, everything looked just great. About 1 day before delivery day, little Grace hadn’t moved in more than 10 hours, so we once again made the trip to the hospital. This time, I stayed…and they induced. They were really worried because out of 4 cavities that they regularly check for fluid, 1 had enough fluid to calculate from. So I was induced (slowly) and after 5 hours of being 1 cm dilated, they broke my water. They also had to attach a moniter to Grace’s head because they kept losing her heartbeat through my stomach, so they wanted to get it right from her head. I was on Pitocin for quite a while, and was wanting to go all natural, but the pain was just too much for me! They gave me an epidural about 7 hours into the contractions, and I was still just 2 cm. After that, the pain pretty much went away except for a sciatic nerve pain down my right leg that I would feel with every contraction. As the hours went on, I kept wondering when everything would just happen! When would I see my baby? So we had gone into the hospital at about 12 am, they didn’t induce until about 3 pm, and at around 12 am the next morning, I kept telling my husband I felt a major pressure “down there”. We kept telling the nurses, but there responses were all the same “there’s no way you can be ready to deliver. You were only at 2 cm. It’s just the contractions.” And then they would leave. Hm…that’s weird. You would think a mother would know her own body signals. So for the next hour and a half, I kept telling him I felt a major pressure “down there” like I need to push it out. He said he would wait until the nurse came in and tell her, and in the meantime, I asked him to reposition my pillow that was between my legs. He did, and what he found was pretty crazy. I was leaking fluid, and had been for quite a while, and when he told the nurse, she came in and checked me, and couldn’t get her fingers in to check for the head too deep, because there she was! That entire time, she had been in the birth canal! They screamed out to the hall for help, and within seconds the room was full of people, and they were telling me “DON’T PUSH!” I couldn’t help it though! As everyone got situated, and extra pair of people came in, and the doctor said to them, “What are you guys doing here? I didn’t ask for you guys to come.” And they responded, “we are just observing.” Ok, well I guess that was fine with the doctor, and at this point, we could bring in the whole hospital, as long as I got to push her out! At 2:09 am, Grace was born, but it wasn’t the “aw, she’s born, everyone’s happy” that you would think. She was thrown onto my belly, blue as can be, Daddy was told to “hurry up and cut the cord” and she was taken over to the warmer. For 12 minutes, I cried, shaking, while they worked with her. She wasn’t breathing much. She didn’t cry. Oh what I would give to have her cry. The doctor said something about the placenta being detached…that the umbilical cord was too small to have given the baby enough nutrients throughout the pregnancy. That I was starving her while I was carrying her… Gosh those 12 minutes went by so slow. They wouldn’t let my husband take any pictures of Grace…finally, she cried a quiet cry, and her color was back to normal. Her nose had been pushed to the side from being in the birth canal for so long, and it was swollen and she couldn’t breath through it. Poor little thing having to already learn a different way to breath properly. She was taken to the nursery to be observed for a long time. We had to stay longer in the hospital than normal because of the breathing problem with her nose, and they said Grace acts like a starved baby, trying to grab onto anything with her mouth. And to think that the only problem I thought we would have was her breathing issue with the nose…and that problem would right itself with time, never to be an issue again…


At three months old, I had noticed a mark above her butt crack that worried me. It was an indentation and a red dot above it. I was worried, of course, so I went to the doctor and asked him. He said, “Hm…I want a neurosurgeon to look at this.” Oh Great. That must mean bad news… So off we went to Oakland to see what’s going on. Right when the doctor looked at it up there she said, “This could very well be a tethered cord. She needs to have an MRI, and most likely surgery.” WHAT??? I thought babies were supposed to come out perfect? What are you telling me? We had to wait till she was 6 months to have the MRI of her spine, and we found the results to be less than appealing. She did in fact have a tethered cord, and will need surgery. I cried. So much. To have the guilt on my heart that I probably caused this because of those pills I took…If I only would have taken a pregnancy test BEFORE taking those pills like the doctor had told me!! But not only were we worried about this surgery…she was also very little, and wasn’t gaining weight enough. And her head was SO SMALL?! What’s going on? Isn’t their head supposed to grow with their body? Isn’t it supposed to look bigger than the body for a while? Why isn’t hers? But that was pushed to the side. Surgery came April 1st, and we were there for little Grace’s first Easter. My poor baby…after the surgery, and 25 stitches later, she was sleeping in her bed, sedated so she could rest. Puffy from the anesthesia, and swollen from the surgery, my little marshmallow lay peacefully resting. The surgery went well, and the spine was in fact extremely tethered, and it was a good idea to do the surgery. Now, we wait. And hope and pray it doesn’t re-tether. We spent 6 days in the hospital, and I finally got upset enough and barked at a nurse because I just wanted to go HOME. They wouldn’t let us go because Grace hadn’t had a bowel movement, and because she was having to be catheterized. Well, we had already been taught for 2 days how to catheterize her, and I did it just as well, if not better, than all those other nurses. Grace was back down to her normal size, and the stitches were very clean and healthy. So I want to go HOME. The nurse I barked at got the neurosurgeon, who then said, “why are they still here? They need to be signed out, because I know they will take great care of her.” Oh, yeah, a doc on MY side! So we took our little one home and just spoiled her with love. So that was one hurdle we got over. But the worry never ceases…that head is still so small on my little girl… which we found out later was because she has Microcephaly. Gosh…another thing my little girl has to deal with. I’m so sorry Grace. I’m so sorry I took those pills…was that the reason you are like this? I don’t know. But the Microcephaly was the least of our problems. Because I knew she had this, I investigated, as I always do. I read that there could be brain problems, and I was worried. Grace already had esotropia, amblyopia, and possibly anisocoria, and gosh these hurdles just never stop coming to us. I asked her pediatrician to order an MRI of her brain, but he denied it. So I forced the issue, because I’m the mother and I know what’s best. Finally, he caved, and ordered the MRI. So down to Roseville this time! WOW! They have somewhere closer for us to go. What a relief. And oh…hm…obviously mommy does know best. Now we know Grace has partial Agenesis of the Corpus Collosum and Hypoplasia of the Cerebellum. Gosh, what more could this little child of mine have to deal with? At this point I’m so mad. I don’t understand why my child has to deal with this. The days go on, and the months go on. We try to wrap our heads around what’s going on, but it’s just difficult. Grace is as bright as can be, and so happy and loving all the time. She doesn’t even look like a child that would have issues! But I still didn’t feel right about this. I still felt like there was something wrong, something lingering. And I wasn’t the only one. I do recall the neurosurgeon saying, “There’s something else Amanda. There’s something underlying that we haven’t found, that is the cause of all this. What we don’t know is what it is, and how bad it is, or if it’s worse than everything we know already.” Wow. That’s wonderful to hear a doctor say. Gosh, that makes me feel so secure.


When Grace was around 8 months old, I realized we could get genetic testing done (I found out online) and so of course I jumped at that idea. It was a blood test…hm that’s not too difficult. So we got that ordered and taken care of. Wow, we have to wait 6-8 weeks? Well, if we do that, we will be in Montana on a family vacation?! How will I be able to have fun knowing something could be found? But I went, and we had fun, and it was a wonderful trip. But of course, I just had to check my email on the day before we were leaving. I should have just waited, so the whole trip would have been fun. They found something. It’s called 7Q36 gene deletion. It’s super rare, and there’s no cure. A part of her gene is deleted, which has caused everything else that’s been going on. Great…I’m glad we found the issue, but wow, what a fun killer.


Grace is now 1 year old. She’s in therapy through Alta Regional, Sacramento County Office of Education, and Easter Seals. She receives physical therapy every other week, Infant Education once a week, and will start receiving Warm Water Therapy once a week. She is developmentally delayed to a 7 month age, but is such a fighter, and won’t give in. She is only inchworm crawling. She doesn’t crawl on hands and knees, she can’t stand on her own, doesn’t step forward when we stand her up, and just recently learned how to sit up straight without tripoding. She has maintained a weight of 17 pounds for three months, and her pediatrician has begun to worry, so she is on whole milk daily, Carnation instant breakfast as much as she will drink, and butter with every meal. She is mainly on formula, with baby food as much as she will eat, and some adult food. She hasn’t gotten the concept good enough about chewing and swallowing. She is still in the “play with food rather than feed myself the food” phase, so we are slowly incorporating adult food into her meals. She knows how to mimic really well, and can say “dada” and “mama” but not because she knows who we are, as well as “baba”, “out” and “nana”. She recently learned how to wave, and will put her hand to her mouth for “blow kisses”. She also just recently learned how to clap.




I don’t know what the future hold for Grace. I don’t know if she will ever walk, as we found out that she only has half her sacrum. We found that out the same time we found out about the tethered cord. Hm. All this news is overwhelming. I don’t know if she will ever crawl normally. I don’t know if she will ever talk, read, go to school, or even comprehend everything around her. I fear that she will struggle through her life each and every day. This is a new experience for me, as well as for my husband. We still cry about it at times, we still get angry about it too. I still blame God, but I know He’s here with us, helping us. I still blame myself. A lot. I guess that’s just what mothers do though…we have to blame someone, so why wouldn’t it be us, since we carried them. In a week, Grace will have another MRI, and if there is more fluid in her spine, she will have to have another surgery. After the first surgery, they found there was fluid still in the spine…oh I hope there won’t be another surgery. But this is our life. And whatever comes our way, we will be strong for Grace, and for each other.

Designer Genes

In the US alone, nearly 30 million Americans suffer from one of 7000 rare diseases, that's 1 out of every 10. Multiply that by each of their family members and friends, that's a lot of people affected by a rare disease. The names are hard to pronounce, the symptoms difficult to deal with, yet none of that matters. Every day parents watch their children struggle just to live and in many cases they die waiting for an answer. Personally, I know of far too many Angels.

Now imagine this is your child and you are one of those people. Wouldn't you be begging for help too?



Speaking from personal experience, having (a child with) a rare diagnosis is a difficult road to travel alone. It makes support and more importantly, information vital. Sometimes worse than being 'undiagnosed' is having a rare disease diagnosis because there aren't many resources available to help newly diagnosed families. You are in a haze of doctors and opinions with often no one to turn to.

Our own genetic journey has spanned over twenty-seven years and today we are no closer to an answer than we were the day we started. But we are hopeful that someday researchers will crack the code and we will have our answer. In the meantime, we will continue to treat the symptoms and conditions that our desiger genes carry.

Since I have started blogging I have "met" a handful of families that are also diagnosed with Branchiootorenal Syndrome, that's five more families than I knew nine months ago. I know we are not alone, but we need your help.

"The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope." ~ Rare Disease Day 2010 website




There's a movement, you can be a part of it. All you have to do is wear your favorite jeans on Sunday, February 28, 2010. That's it. Skinny jeans, Bootcut, Designer, Acid wash, I don't care...as long as you support hope.

Some causes get a ribbon, we get an entire article of clothing that's how important we are!!



The Global Genes Project and Children's Rare Disease Network are teaming up with International, National, Parent organizations and bloggers from across the world to promote World Rare Disease Day, it's a grassroots awareness effort.


Discovery Health will air the World Premiere of Disease Detectives, based on real-life cases from the NIH Undiagnosed Diseases Program, on February 28, 2010 at 8PM, check your local listings.

Kendall's Hope

"When the world says "Give up," Hope whispers, "Try one more time." ~Author Unknown

Somewhere I heard the quote "The end of a matter is more important than the beginning." Not sure where I read/heard it, but I like it. It definitely pertains to my darling Kendall. It doesn't matter where, when, or why all of her issues started, what really matters is that we cherish every single day we have with her, and every single milestone she hits. As a family we have come a very long way with acceptance. I can honestly say I wake up in the morning happy again. There were quite a few dark days in the past year when that wasn't the case. But, like every other hurdle in life, you keep on trucking, and eventually you get through it. You become stronger in the process. Justin and I have become closer. Kamden has learned patience. I have witnessed my 8 year old's faith evolve. He has an amazing understanding of the world and a relationship with the Lord. We have all learned how to pray. As a mother, I now treasure everything most parents take for granted in my children. And while I know we will continue to have occasional dark days, or self pity days, they seem to be spacing out.

I have decided to do a post that recaps Kendall's medical issues from the beginning. Mostly, so I can refer back to this all in one place. I wish every time we went to a new Dr. or had to go through Kendall's history, I could say "check my blog!" But that's not the case. Maybe this will help someone out there who, God forbid is in a similar situation. I also want to link all the medical terms to sites that explain them well. It will help me to gather my thoughts and our most recent findings with her clotting issues. I'll try to give the Reader's Digest version, but I've never been very good at giving the short story. Once I have this out, I vow to myself to focus on the "end of the matter" and stop wondering the dreaded "what if's." So here goes.

My son was born 7 years before Kendall with no issues. He was text book! My water broke at home on his due date. I went into labor on my own, and had a natural birth. My pregnancy with Kendall was more or less uneventful. I was 29 years old with no history of any health problems. My blood pressure was fine. I am RH negative, so in both pregnancies I took the needed injections. Toward the end of my pregnancy, there was protein in my urine, but I was assured that was OK as long as there weren't any issues with my blood pressure. Kendall was in a Breech position pretty much every time I had a sonogram.


At a routine sonogram around 28 weeks, they noted "enlarged ventricles." My Dr. didn't seem too concerned, but did refer me to a perinatologist. My whole family went into a tail spin with worry! But in the back of my mind, I thought everything would be OK since we had relatively healthy people in our family. The next day we were fit into the Perinatologist. He was a little man with annoying habits. I hated him from the beginning. He said her ventricles were "borderline enlarged" at only 12 mm and we were going to watch them. HOWEVER, she had two white spots in her heart...calcifications...and a hole in her heart. He said there was a chance she had Downs, and recommended an Amnio. He said we could abort, but there was only one state that would do it and we would have to move quickly. I remember looking at him, seeing his lips move, but no sound coming out, and everything was in slow motion. He left for a minute and told us to think about it. There was no thinking required. Before we got pregnant, we knew we would love our child no matter what. We declined the amnio and of course, the abortion. He came back in, we gave him our decision, and he handed us a card for a scheduled EKG at Children's Hospital. We went home and I cried for the next 2 days. I discovered the Internet and learned more about the heart than I ever wanted to know. I found the worst case scenario, the best case scenario, and prayed.

We went for the EKG and received the results the same day. Her heart was perfectly normal. A month later we went back to the perinatologist for a follow up. My mom was with me, Justin at work. That day he did a sonogram, and came back in putting on the same show. He looked like he was giving a speech to a group of medical students. He asked if my mother was my sister (clearly...she isn't....she had me when she was 38....although she looks great for her age...clearly....NOT my sister....so that just pissed me off. This wasn't a time for jokes.) I was expecting a clean bill of health, but that's not what I got. She still had "borderline ventriculomegaly" and a possible "arachnoid cyst." This time we were too late to abort, and he returned with a card to go to Children's Medical Center for an MRI. I cried at the checkout desk scheduling the appointment. Before we made it to the car, I felt I was living a bad dream. My sadness quickly turned to anger. Anger because he had already sent us on a wild goose chase with her heart, and I wasn't going to go through it again. I was firing him! He didn't know what he was talking about! He was the WORST Dr. on the planet! But still, I went home, jumped on the Internet, learned more about the brain than I ever wanted to know. I found the worst case scenario, the best case scenario, and prayed.

After letting it sink in for a few days, I called my OB and asked to be referred to another perinatologist. My nurse was wonderful and encouraging. My Dr. sent me to the Dr. his wife went to. It was a longer drive, but worth it. Within a week, we had a second opinion from a well-regarded Dr. who had bad breath, but didn't piss me off. He reviewed everything, performed a long sonogram, and said everything looked fine...but she may have a club foot. In retrospect, a club foot would have been great! We breathed a sigh of relief and enjoyed the rest of our pregnancy. Kamden was excited about his baby sister. He drew pictures of her (and being the gifted and talented kid he is...drew her with a club foot in all of them.) Our angel never turned, so I was scheduled for a c-section.

Kendall was born on a Sunday morning. She didn't have a club foot. Emails and text messages were sent out stating everything was fine. She had an apgar score of 10. She latched on to breastfeed immediately. She was small 5 lb. 12 oz. Her head was also small. But she received a clean bill of health from everyone in the hospital. She even passed her eye exam!?!?!? We went home 2 days later with our bundle of joy...prepared for sleepless nights.

The next 2 months, I enjoyed my Maternity Leave. I recovered from my c-section, breast-feeding was going great, and I was focused on losing the 65 pounds I gained with my 6lb baby! She was the best baby. She had a few nights with crying fits, but all in all, she was so mellow. She slept a lot. Her eyes were always a bit shaky, but I must have asked the Dr. 100 times if that was normal! In the back of my mind, I knew it wasn't but I didn't want to think about it. Everything was going so great. Then one evening, we placed her down to go to sleep and she had a series of startles. She did it 3 times in a row. I knew this wasn't normal and called the Dr. the next day.

At that appointment I insisted he look at her eyes. She never made eye contact. Something was off. We left there and immediately went to a Pediatric Ophthalmologist. She was diagnosed with bilateral congenital cataracts. Surgery was scheduled for the next week for the left eye, then the following week for the right eye. I went home, jumped on the Internet and learned more about the eyes than I ever wanted to know. I found the best case scenario, the worst case scenario, and prayed.




She recovered from her surgeries was fitted for glasses weeks later, but still wasn't tracking. We thought there may still be something wrong with her vision even though during her examination under anesthesia they said her optic nerve was fine and everything else was intact. She wasn't rolling or reaching, but we blamed that on her vision! We started ECI services with Vision Instruction and Orientation and Mobility through our school district. We also added PT since she wasn't really moving.

She went for a routine evaluation at our pediatrician's office. Her head circumference was small, but was growing along the curve. They were a bit concerned. We mentioned a shaking of her foot on occasion and absent stares and head drops she was exhibiting. Soon after we left with a referral to a Neurologist and the label Microcephaly. We scheduled an EEG and an MRI. We also had the EEG followed by an appointment with the Neurologist. Her EEG was abnormal, he said she had high tone, and wanted to have a 24 hour video EEG done the following week. Of course I went home jumped on the Internet, researched everything I could about abnormal EEG's, abnormal tone, seizures, and you guessed it. I knew everything there was to know about Cerebral Palsy. I found the best case scenario, worst case scenario, and prayed!!!



At the hospital following her video EEG, we were told she did not have seizures, but they were going to go ahead and move the MRI appointment for the next morning since we were already there. She got general anesthesia for the third time in her short 5 months of life. When the results were in, they escorted us back to our room. We knew something was up when the train of Dr.'s walked us to the viewing room. The Dr. on call told us she had a large cyst in her brain, possibly on 2 sides, and we should start therapy and familiarize ourselves with the term Cerebral Palsy (ha! I already had!) We went home thinking a left sided weakness was the end of the world. Our next neurologist appointment wasn't for another 5 months. That wouldn't do, so I called the nurse. I explained that we didn't understand and the 5 minutes the Dr. on call spent with us wasn't going to hack it. She told me Kendall had damage all over her brain. I cried on the phone with her and she was able to move our appointment up to the next week.

At that appointment we were told Kendall had a bilateral stroke on both sides of her brain. She had two Porencephalic Cysts that were compatible with a hypoxic/ischemic brain injury. She would never be normal. She wouldn't walk, see, or talk. She would be "mentally retarted." We cried with the Dr. and went home.

The weeks following I did a lot of research on plasticity of the brain. I also asked a lot of questions about why this happened. I found incredible support and information on Yahoo message boards (my list of them got so extensive, I finally had to unsubscribe!) I learned about seizures through my Microcephaly group. Kendall continued the next few months with the "startles" that to me resembled videos of Infantile Spasms I had seen. Two more video EEG's finally diagnosed her with Infantile Spasms. That is where our current search for the right seizure medication began.

A group I found called the "Pediatric Stroke Network" helped me discover Kendall's possible cause of her stroke in utero. Apparently she has the Factor V Leiden Mutation, two copies of the MTHFR gene, and her Homocystene levels are high. These are inherited from both Justin and I. I have tested positive for the Factor V, and Justin and I both have MTHFR. We have decided not to have my son tested in fear that it would be a pre-existing condition that would interfere with him obtaining life insurance in the future. We are all starting on an aspirin a day. And we will make sure we tell Dr.'s in the future if we have any surgeries or increased risk of blood clots. In a weird way, finding out a possible reason for Kendall's stroke has helped me move forward. I don't research causes on the Internet anymore. I mainly focus on therapy and equipment and how others with similar diagnosis cope day to day.

So that's it. The "beginning of our matter." We are blessed with a beautifully unique little girl,a true fighter, with a smile that lights up a room, a laugh that lifts your spirits on the toughest of days, and a whole new outlook on life.



Thank you Kendall. We know you are going to surprise everyone with what you are able to overcome!

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

When I orignally wrote this... I was praying I wouldn't have to update...like ever. Unfortuately for us, 2 weeks ago on (August 24th 2009 at 16 months old) Kendall had really high blood sugars and was admitted to the hospital, only to be diagnosed with Type 1 Diabetes. (the auto-immune flavor) Oddly enough this result was a relief for us because it meant she didn't have Mitochondrial Disease...

Currently her blood sugars are evening out, and seizures remain semi-controlled on the Ketogenic Diet. She failed Topamax, Vigabatrin, and Keppra so the reduced seizures are welcomed, even though it has complicated the Diabetes Treatment! Our Endocrine and Neurology teams at Cook Childrens are working together to provide the best treatment for Kendall. She now smiles and laughs, rolls, and reaches, and is days away (I believe) from sitting on her own! Hard work and perserverence will pay off. We are blessed.



Read more about Kendall on her blog Kendall's Hope.

An Angel Among Us

~by Mandy Rady of The Rady Family

I met my husband Mike in High School, we were sweethearts from the start. We have three children, all boys and we are currently living in Stansbury Park, Utah.

When I was expecting Tucker, I was very sick for 6 months I couldn’t keep anything down! I kept having feelings like something wasn’t right, that I needed to have him checked. One morning day I woke up early, I had an uneasy feeling , I KNEW something was wrong. As we traveled to the hospital to see my Dr., we were listening to the radio and they played the song “Angels Among Us”. This incredible feeling came over me and I knew that God was speaking to me. I knew He was sending me an angel.

We had an ultrasound done and the Doc said everything looked good. So we went home, but over the next couple of months I continued with the promptings that something wasn’t right. When we went in for a second ultrasound, we found out it was a boy. During that ultrasound, he got really quiet. It is a moment I will never forget!! He went over and over the baby’s head, measuring it. I then asked if there was something wrong with the baby’s head. He said yes there was, that there was a lot of fluid in his ventricles. They told us to go for more tests and an ultrasound. I left the doctor’s office feeling so scared and worried. Realizing this is why I had felt uneasy for so long, that something wasn’t right the whole pregnancy. Mike and I traveled to Utah with my mom waiting for the unknown. We met with a doctor who looked at the ultrasound who asked if anyone had told us what was wrong with our baby. I said we know he had hydrocephalus. He told us that our baby had Spina bifida and told us to meet with a genetic counselor and get an amniocentesis. I was in shock and remember thinking “what is Spina bifida?”

Mike was going through his OB rotation for nursing and so he had a book with a lot of information in it. We sat down and started reading. I went to get some things we needed. When we met back up, I said, “I feel like his name should be Tucker.” Mike said I was just feeling like that also. His name was meant to be Tucker.

We met with the Genetic counselor and she informed us more about what was going to happen. She told us that as soon as he was born they would do surgery to repair the bubble on his back and would place a shunt in his brain to drain the fluid off. She then told us that he would most likely be paralyzed from the waist down. She also said he could be a vegetable and he would have a lot of needs. We listened to this for 3 hours and took it all in, but my emotions were at the verge. I don’t know why but I was trying to be strong… strong for myself, my husband, for my mother and for my unborn child. The counselor then said “you don’t have to hold it all together. This isn’t fair, it is ok to be sad.” I then burst into tears!! I was scared and felt so alone and sad at that point. We then left her office. We stood in the hallway at Primary Children’s Medical Center… my mom, Mike and I holding each other and crying for what seemed like an hour.

We then went to the Jordan River Temple and walked around, sat and talked and cried. Mostly I was just scared wondering what our future held for our first born and for us as his parents. I was seeking for peace and comfort of any kind! We then went to my Aunt’s house where she gave us a place to stay for as long as we needed. I will never forget that night! It was late and we were so drained emotionally, physically, and spiritually. Mike and I got on our knees and prayed for the Lord’s help, it was the most amazing prayer and I felt my Heavenly Fathers arms around me! The feeling that came over us was peace and comfort. We poured our hearts out to Him, telling Him how we didn’t know what we were to do or how it was going to be, but we knew it was His plan and we would do our best to accept whatever was in the future. We then climbed in bed and cried and talked and cried and talked. Mike had fasted all day and the day prior so he was exhausted and he fell asleep.

I lay awake for quite awhile with my heart aching. This was the hardest thing I had ever faced and I wasn’t sure how I was going to do it! Thoughts kept going through my head that I may lose my son. I wanted so badly to just be able to give it to the Lord, but I felt so heavy with sadness, I just wanted our baby to be ok. As I was laying there the words to the song “Angels Among Us” came into my mind and I then had this incredible feeling that I was being sent an Angel. I felt the Lord very near as well as Tucker. I had peace fill my heart and comfort came to me and I was able to go to sleep.

The long two months ahead were hard! I was depressed for like a week and didn’t want to talk to anyone or do anything. I laid on my bed a lot and the couch feeling sorry and asking the Lord “Why?” I remember crying one night while feeling like this, and people had been calling to wish us luck and let us know they were praying for us. I felt so sad inside and was crying when I heard a voice of a little child say, ‘Mom, don’t be sad that I am coming to earth to live with you.” I got chills and it became so clear to me that I needed to be excited, that he was coming however that may be and for however long he was to be here. I realized how he must have felt for us seeing us mourn his coming so much. I then made a clear decision that I was going to be happy and enjoy this time.

It was much easier from then on. We were at peace with whatever the Lord saw fit to give us! People of all faiths were praying for us, calling us and fasting for us! It was amazing to see the outpour of love, even from strangers!! We felt close to the Lord because of so many kind hearts! We truly were being blessed and saw amazing things happen! Our love for each other grew. We still remember this being the hardest time of our lives, yet the most rewarding time also!

Nine years ago on August 30th, at 4:38pm, Tucker was born. He weighed 5lbs., 13oz.
and was 21” long. He was so beautiful and strong and did very well right away. We instantly had this amazing love for him and felt his little spirit. He was so sweet and never cried, the nurses said he was so good.

I was at the U while he was at Primary Children’s. It was very hard and I wasn’t able to nurse him because he was having surgery the next morning. I wasn’t able to hold him either until he had had the surgery.

I was so excited to get to know him and love him and care for him. Tuesday morning he went in for surgery for his back and shunt, and everything went well.

September 5th (7 days later) we were able to take him home. I will never forget the love that was shown to us by people in our congregation, friends and people around us! One kind woman told me, “You will gain a greater love for the Savior through your child! You will come closer to the Savior because of the service you will be giving to your son.” That really hit me and I felt so inadequate to raise this special little bundle God had entrusted me with!! What an honor and gift from the Lord!


Really I do not know if I could have made it through this without the strength of friends, parents and members of our church. You know the eternal plan our Father has for us truly brought me comfort many times and still does! To know that because of the Savior, Tucker will be made whole, brings great peace!! When he was 3 he would always tell his friends and strangers that the Lord was going to heal him and make his legs work when he saw the Savior. I was always amazed by his strength and his faith!! I still am really. He is always so strong, still through all he has been through, he still continues to know that the Lord is there for him and that he will be ok.

When he was 1, he spent 30 days in the hospital and there were moments I thought we were not going to be able to take him home! Through that time I struggled with giving it to the Lord, I really feel like that was a lesson for me! He was very sick, and I found myself on my knees a lot! Towards the end of his stay at Primary Children’s I was having a conversation with the Lord. I was telling Him that I just couldn’t do it anymore and that I needed Him to take over, that I needed more strength. As my husband and I were on our knees the most incredible feeling came over us and filled the room. I felt as though the Savior himself was in the room and I remember opening my eyes and looking around the room to see if He really was there. I wish I could describe the feelings that were in my heart. I was given strength and peace and I then KNEW He was watching over us and we were to endure whatever was to come.


Tucker has no feeling from his knees down. One day when he was 5 his socks and braces were off and he had felt his feet with his hands and felt like they were cold so he put them on the fireplace to warm them up. He then said, “Mom look what I did to my feet.” I nearly had a heart attack! We took him up to the University of Utah burn center and we waited for two weeks to see if they would heal on their own. One foot did and the other one didn’t so we had to have skin grafts on that one, which meant another surgery. He healed fast after that and still has scars to show for it.

The hardest part for me is to see all his buddies doing the things Tucker would love to do!! I see him struggle sometimes silently, that is the hardest. He has never complained to me about his situation. He has asked me why he is like that and why he can’t walk. I tell him everyone is different and that is what makes us special. When he struggles with things we watch a video or see someone who has a hard road also and then he is ok. When he was really little, maybe 3 or so he would say, “Well mom at least my arms work and I can see what I am doing.”

All the time he finds the positive about his situation. He is always teaching me so many things!! I truly feel like it is an honor to raise him and that he has made me a better person for what we go through each day!

Today Tucker is 9 years old and a ton of fun! Nearly every day he asks me if he can have a cell phone. We tell him he can have one when he gets a job and buys his own. He really wants to be treated just like any other kid and works hard every day to try and accomplish the same things other kids his age are doing! Every Saturday for 3 months he plays wheelchair basketball. That has been really good for him!

Last summer the shunt that he had for 8 years stopped working. He had to have 3 different surgeries within a month to repair the shunt. The first stay lasted about a week and a half and then the second one lasted over night and we had to go in the next day. Then he started school the next week.

It was a rough summer, but once again he was such a trooper! You never know with shunts, but we have been blessed to have had so many years of it working, when it wasn’t it was hard.

One thing I have learned from all of this is that the Lord does hear and answer our prayers. It is not always the way we want it, but it is always for the best. Even if we do not understand at the time, we will later!

When he was little he would cry whenever the hymns were sung!! We would go to church and he would cry through most all the songs. It wasn’t a scared cry, just a cry like he was feeling something. He is still like that, anytime truth is spoken to him, he gets emotional. He is very tender-hearted and close to the spirit! He loves to sing country with me and loves almost all the Primary songs. He loves family home evening and wheelchair basketball. I have seen his self esteem increase since he has been playing. He has a ton of great people around him and they are easily drawn to him. He has a great, cheerful almost silly personality.

We have been blessed by so many strangers because of him!! He got a guitar for Christmas and is excited to learn how to play. There really isn’t a day that goes by that I am not grateful for him and the spirit he has brought to our home and the things we have learned from him!!

We have been looking into VEPTR rods because he has scoliosis and lordosis. We have put it off for a year now and know that is our next step. That means a surgery every 6 months from here on out. We are not excited about it and are praying for peace again!

My advice to other parents is to love each day with your children and don’t stress the small stuff! There are so many things to learn from these amazing little people and their strong spirits. They truly are a gift.

Now when we hear the song, ‘Angels Among Us,’ we know that is our song for Tucker and feel the words are so true and that is our little answer from our Heavenly Father to let us know we have an angel!

My favorite book to read when I feel like I am struggling with things, and hope to share it with Tucker more fully as he gets older is, ‘Finding Peace in Troubled Waters, 10 life preservers for when your ship springs a leak,’ by Art Berg. He himself is inspiring!! Look him up. AMAZING!! Other people we love, Mike Schlappi and Chad Hymas. Their stories and lives have also been amazing!! I have also been inspired by the book, “No Excuses” by Kyle Maynard. Another good book is “When your Prayers Seem Unanswered” by S. Michael Wilcox . I have read so many it is hard to choose but I think these are my favorite.

One of my favorite quotes is by Orson F. Whitney. He said, “No pain that we suffer, no trial that we experience is wasted. It ministers to our education, to the development of such qualities as patience, faith, fortitude, and humility. All that we suffer and all that we endure, especially when we endure it patiently, builds up our characters, purifies our hearts, expands our souls, and makes us more tender and charitable, more worthy to be called the children of God. . . and it is through sorrow and suffering, toil and tribulation, that we gain the education that we come here to acquire and which will make us more like our Father in Heaven.”

My husband reminds me, too, when things get hard, that if we want to sit with the Lord in heaven, like our Savior, we have to go through these things and prove ourselves worthy to be with them. That always strengthens me and helps me because I am certainly not greater than the Savior, and my trials seem small in comparison. It helps me to put things into perspective!!

One more quick quote and then I will be done, is by Ezra Taft Benson. He said, “ Men and women who turn their lives over to God will find out that HE can make a lot more out of their lives than they can. He will deepen their joys, expand their vision, quicken their minds, strengthen their muscles, lift their spirits, multiply their blessings, increase their opportunities, comfort their souls, raise up friends, and pour out peace. Whoever will lose his life to God will find he has eternal life.”

~~~

I have a special place in my heart for Tucker and his family. Mandy found my personal blog through the blogosphere. In response to a post about the hard time we were having getting insurance approval for a stander for my daughter, she emailed me and offered to donate the stander Tucker had outgrown. The stander has brought to pass miracles in my life.

Tucker is currently in need of a new wheelchair. A fund has been created to help raise money for this good cause. If you're interested in donating, go to Ability Found: Speedy Wheels to find out how.

A Wink From Heaven

A compilation of thoughts written by April Moody from the blog Wink From Heaven, which is about her son Caleb...

"If, therefore, thine eye be single, thy whole body shall be full of light." ~Matthew 6:22

I remember the night I found out that our baby Caleb had significant problems. We were faced with the unbearable possibility that our baby might not be born alive. During our first glimpses of him we were filled with worry and deeper heartache than I had ever felt before. The next day I remember telling my mom, "this isn't how I imagined my family picture." I didn't imagine hanging a family picture on my wall that had someone missing. I also hadn't pictured a child whose time may be limited and whose challenges would be severe. It wasn't that I didn't want a disabled child. I wanted Caleb more than anything in the world. I had the opportunity to voice how much we wanted Caleb in many of those early doctor appointments when they presented our options. I pleaded with Heavenly Father for the opportunity to take care of our baby no matter how big his challenges were. We wanted Caleb with all of our hearts, his circumstances just weren't what I had pictured.

I remember that phrase, 'This isn't how I imagined my family picture' every time I put a new photograph in a frame, add a picture to a scrap book, or hang a portrait on my wall. My heart is filled with so much gratitude every time I look at my sweet little family inside those frames. It wasn't what I had pictured, and it is so much sweeter than I could ever have imagined. I would never have pictured how proud I would feel of Caleb for his courage, faith and patience. I never pictured how full my heart would feel as I watch my other little boys lovingly watch over him. I never pictured how my sweet little boy, whose time may be limited and whose challenges are severe, would touch the deepest parts of our hearts and change our lives forever. Just yesterday Matthew told me, 'I just get such a big loving feeling inside whenever I'm around Caleb- and I just have to hug him!'

I took our little family into the studio for some last minute pictures before Caleb went in for surgery [last November]. The pictures aren't fancy, but nothing could be more beautiful to me. I would never have pictured the exquisite delight I would feel in hanging photographs of theses precious souls on my wall...

When I was pregnant with Caleb, we were so excited to find out what we were having for our third child, so our kind friend offered to do an early ultra sound so that we could meet our new little family member! As we were driving to the clinic, I started to feel extremely uneasy. I asked my friend if he would tell us if anything was wrong. He reassured us that he would and that he would probably say something like, "we'll need to talk to a doctor about this."

As soon as the ultra sound began, our first glimpse was of our baby's' head. I immediately asked "is it supposed to look like that?" Instead of seeing any brain tissue, it was completely black. Our friend said, "We'll need to talk to a doctor about this..."

I started to cry and tried to focus on other information he gave us-- we were having a BOY!!! We were counciled to set up appointments with doctors and specialists so that we could learn more about our special little guy. Our hearts were heavy that night as we worried about our new little boy and the challenges that were likely ahead.

Within a few weeks we decided we wanted to name our little boy so that we could pray for him by name. We named him Caleb Joseph! Caleb was a righteous Israelite in the Old Testament who was always faithful and was known for his fearlessness in the face of overwhelming odds.

October 2004:

Dear Caleb, you are not going to be born for another 3 months, but you are such a special part of our family already. You have such a strong and compassionate spirit. I have felt so close to you during this time as we have been uncertain about what your birth will bring. About a month and a half ago, we discovered that you have a great amount of fluid in your brain. Our hearts have been so tender as we contemplate the possibility of only having you for a short time. Our hearts ache knowing that you may have significant problems throughout your life.

In the midst of the uncertainty, there are some things I know for sure. I know that you are my son for eternity. I know that you have an important role to play in our family and that we are privileged to be a part of it. I know that you love us and that you are aware of the deep love we have for you. I know that the Lord hears our prayers and sees our tears....Although I don't fully understand why you have physical hardships, I know that you have a valiant and loving spirit. I really feel you at times comforting me and that you want me to know everything will be okay....

This past week we had an MRI which confirmed the missing corpus collosum, a blockage causing excess fluid, and that you are missing your right eye. Getting that information broke my heart because I don't want you to have one more physical obstacle....I know that your spirit is not limited and that you have a special mission...I have seen hearts change just when people find out about you...

January 6, 2005:

Caleb was born at around 10:30 AM. His little cry was music to my ears! I got a quick glance before he was passed through a little window into the NICU. I got another glimpse of him as I was wheeled into my recovery room, and he was being prepared for transport to Primary Children's hospital. He was beautiful! In spite of the challenges I knew were ahead, I was just tickled so see my new little boy. His spirit is so big, and he just radiates with love.

Dear Caleb, you are here my precious boy! I am so full of love for you, my heart can't contain it all. I thought my heart would burst when I heard you cry after you were born. When they held you up for me to see, it was like looking at an angel! I knew today would be a life changing day for all of us - and it was. My life has been forever changed for the better because you are in it. I only got to see you for a few moments, but those moments will be treasured for my whole life.

January 7, 2005:

Dear Caleb, Today we spoke with your doctor and he explained many things to us. Your brain has not formed. It appears there is little they can do but stabilize you and prepare you to come home with us.... they don't expect you to live for more than a few weeks....at this moment I don't think my heart can bear the thought of letting you go. How can I look into that precious face knowing that my time is limited? I just want to stop this moment in time and hang on to it forever.... I wish I could choose the outcome, but I know your eternal outcome is already known. I pray that your spirit knows how much you are cherished. Each day I have with you is a treasured blessing....

This morning I got to hold you for the first time! It was like being in Heaven! I couldn't hold back the tears as I held your sweet body in my arms. I just rocked you back and forth and tried to memorize every bit of you. Your sweet spirit just seems to heal my soul. It saddens me so much to know that I may spend much of my life missing you. Do you know how dear you are to me?...Do you understand that the hardest thing I will ever do is let you go?

Today was your blessing day. We were able to gather in a hospice room with Dad and I, your grandparents, one of my aunts and our bishop.

Your blessing outfit was huge on you but you still looked like an angel....there was such a special spirit in the room and your Daddy gave you a beautiful blessing....Each of us had a chance to hold you. It was such a special afternoon. That night you weren't breathing very well and we thought you were going to be put on the ventilator again. We were told to be prepared to decide whether or not we would want to do that or just let you go. My heart was in agony as I contemplated letting you go before I was ready. Fortunately, the doctors were able to reposition you and get you breathing again.

...as I was alone in my hospital room that night I was overcome with sadness. I just can't bear the thought of losing you...I want you to know how much I treasure you and although I don't understand why things need to be this way, I know that the Lord knows our needs and will comfort my breaking heart...

January 13, 2005:

One of my favorite days was Tuesday. Our doctor let Dallan, the boys and I take Caleb into a hospice room, and Josh and Matthew were able to see Caleb for the first time!

Normally no children under age 18 are allowed, but our sweet doctor has been so kind to consider the needs of our little family during this time. Josh and Matthew were so excited and I was so touched as I watched them hold and interact with their little brother. Josh was so tender with Caleb and just couldn't stop hugging him and rubbing his face against Caleb's face. His little spirit was so full of Joy to be with his baby brother. He didn't want to put him down. Matthew was so excited not to be "the littlest" anymore and just loved holding Caleb! He couldn't wipe the smile off of his face, and he loved playing with Caleb's little fingers. The boys were able to hold and snuggle their baby for two whole hours. As parents, our hearts were so touched to have such a special time together, because even when he's home, Caleb will have to spend most of his time under an oxygen mask.

The past few days have been really full as we've been learning how to use all of the hospice equipment so that we can take care of Caleb at our home.... We are so excited to get to be near Caleb everyday! We know that even though we are overwhelmed with how we will be able to keep up with 24 hour care, our family is so blessed to have this little miracle in our lives.

Caleb was in the NICU at primary children's hospital for 8 days. He was so sweet and patient with all of us. He only needed a ventilator for a few days, then was able to breathe with supplemental oxygen. It became apparent to all of us that there was nothing more that could be done for him in the hospital, so we prepared to take him home.

It was overwhelming at first to bring Caleb home. We were surrounded by a host of hospice helpers, learned how to use a kangaroo pump, run the oxygen equipment, and tried to keep Caleb as comfortable as we could. We were counciled to pick out a burial spot, and we did. We worried if each day would be our last.... We had a birthday party for Caleb every week to celebrate his time with us, and we realized we wanted our time with Caleb to be JOYFUL. We decided not to let the medical community take our hope away. We decided that we could celebrate each day and have hope for the future instead of grieving.

January 18, 2005:

Josh loves to hold Caleb's hands and we often find him just quietly watching over him. Matty likes to sing Caleb the ABC's over and over again. We're trying not to look too far into the future and are just enjoying each day with our little miracle - even diaper changes are just sweet and fun!

Caleb has brought an overpowering spirit of love into our home. We feel so honored to be with him. Every time we change his diaper, rock him in the rocking chair, kiss his soft little cheeks, or even just stare at him through tear filled eyes -- we are reminded how much Heavenly Father must love us to bless us with this time with our little miracle. Our hearts are wrapped so tightly around our little baby. We are just so in love with him!

He responds so much to love....

and as we hug him, sing to him, or stroke his little face - his oxygen levels and heart rate always seem to improve.

Caleb has taught us what perfect love feels like. I have watched the way people linger at his crib side and didn't want to leave his presence...

April 2008:

If I knew I had to say goodbye to any of my sweet boys, what words would I want them to hear from their mom? I've asked myself that question numerous times especially during tender times with Caleb. It seems like there should be a bigger way to say "I love you"- Where are right words to say that I love them so much that it takes my breath away- that I love them so much that sometimes it even hurts- that I love them so much that my heart wants to beat for them? I know that before they were born just the "hope" of them filled my heart with joy- that when I was expecting I loved knowing that they were growing right next to my heart- and now that they are here, my heart is wrapped so tightly around them that I can't breathe.



I took Caleb to the doctor today and spent the afternoon having chest x rays. He did aspirate and as a result has Pneumonia. He isn't moving air through his lungs very well. He is on a big dose of antibiotics and is in need of a lot of supplemental oxygen. My heart has been tender as I've wondered what I should say to Caleb today. How do I tell him how dear he is to me and how proud I am of him?

But then when I wrap my arms around him, and when I'm really still, I can feel his heart telling me that he knows- and that...

"I love you" is enough.

January 2009:

I have sweet moments with Caleb when I know that I live with an angel. Even when Caleb is so sick that he can hardly move...he still has a miraculous effect on people. During his last hospital stay, I was so touched by the visitors Caleb had...visitors from within the hospital. Many doctors, residents and nurses who have met Caleb before, would come by day after day to check on him, stand by his bed for a moment, and feel his sweet little spirit. Caleb couldn't walk or talk with them - He touched their hearts... and they felt it. I felt it. One told me she had never been so touched and inspired before. I know. Me too.


This last visit was 13 days long. Nine IV's later...and Caleb still shines. I live with an angel, whose feet have never left the ground.

My 2nd little boy, Matthew, would often tell us that Jesus peeked in our windows...I know that the Lord has kept a close watch on our little family as we have been on this journey together...

Caleb is currently 4 years old!

He continues to remind us to find JOY in our journey every day!

We aren't sure how much he can see out of his eye, but we know he responds to light. We are also unsure of his hearing abilities, but I see him respond to my voice, to music, and sometimes to loud sounds. Caleb has a trach to help him breath. He also has a shunt to help drain the fluid from his brain.

Caleb is currently on Phenobarbital (seizures), Levothyroxine (thyroid) Previcid (reflux) Baclofen (muscle relaxant) and atrovent (airway) We have had him on topamax, zantac, and erythromycin, but have since weaned him off of them. We also tried Helmet therapy to help with the shape of his skull, but decided it wasn't worth making him uncomfortable when only minimal results were expected. We have also opted not to have surgeries for his cleft palate at this time.

Caleb is a peaceful and patient little boy. His whole countenance shines! He loves to be LOVED. He loves it when I rub his feet, sing to him, and snuggle him. He is so patient with us and he is patient with the challenges he faces in his little body. Even when he has hard days with his respiratory system, seizures or feedings, his little spirit still shines through. He loves to be surrounded by his family and he loves to hear our voices. He also loves it when he is well enough to be outside to feel the sunshine on his face.

For Caleb, touch is largely how he experiences the world. I've helped him splash the water in the bath tub. I've put fall leaves in his hands and helped him crunch them. I've brought snow inside and helped him build a little snowman on a cookie sheet....I've wrapped his arms around my neck and held them there when we've needed a hug...I've put his hands on my cheeks and let them melt to my skin. He loves it when I rub his feet, rub my face in his hair, and rub his chubby tummy. Caleb loves to be touched!

Our biggest goal is to simply surround Caleb with our love...

We have a vision specialist/preschool teacher who visits him twice a week. I have a consult with a physical therapist and Occupational therapist once a month so that I can continue to keep his body stretched and comfortable. Overall, though, I know that Caleb grows and responds the most to LOVE! I know that he has a happy spirit and that he wants our time with him to be joyful!

We are so thankful for our little miracle. The overwhelming love we feel for him gives us just a glimpse of the way that our Heavenly Father loves us. The tenderness of knowing our time with him will be limited is also surrounded by so much sweetness. I wish there were a "heart language" that could portray the sweetness that surrounds us as we watch our 3 boys love each other, as we feel Caleb's sweet little body in our arms, and as we feel the love that has filled our home to overflowing.

My biggest sources of inspiration are prayer, other parents, the scriptures, and music.

Two of my favorites songs are:

"I Feel My Savior's Love"

and "Consider the Lillies."

The lyrics:
Consider the lilies of the field,
How they grow, how they grow.
Consider the birds in the sky,
How they fly, how they fly.

He clothes the lilies of the field.
He feeds the birds in the sky.
And He will feed those who trust Him,
And guide them with His eye.

Consider the sheep of His fold,
How they follow where He leads.
Though the path may wind across the mountains,
He knows the meadows where they feed.

He clothes the lilies of the field.
He feeds the birds in the sky,
And He will feed those who trust Him,
And guide them with His eye.

Consider the sweet, tender children
Who must suffer on this earth.
The pains of all of them He carried
From the day of His birth.

He clothes the lilies of the field,
He feeds the lambs in His fold,
And He will heal those who trust Him,
And make their hearts as gold.

Some talks that have recently inspired me are: The Ministry of Angels by Jeffrey R. Holland, Come What May, and Love It by Joseph B. Wirthlin, and The Infinite Power of Hope by Dieter F. Uchtdorf.




***Caleb is having surgery today to get a G-tube to help him eat, and a nissin to help with reflux. Please keep your thoughts and prayers with Caleb and his family. Visit their blog, Wink From Heaven, to send them well-wishes and to thank them for sharing their special story.