Sep 28, 2009

Every Child Deserves Unconditional Acceptance

Children's Craniofacial Association has declared September as Craniofacial Acceptance Month.

HE'S MY SON

Yes, I am aware that September is over. But I can honestly say acceptance is something I fight for every day of the year, on behalf of my son. Born at 36 weeks, Austin was diagnosed with Branchiootorenal Syndrome, a rare genetic disorder that affects 1 in 40,000 people. BOR itself is not a craniofacial disorder it is an autosomal dominant genetic disorder that includes malformations of the ear and cysts in the neck, hearing loss, and malformations of the kidney.



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As a result of BOR Syndrome, Austin's list of physical challenges also double as medical dictionary tongue twisters: Gastro-esophageal reflux disease, Microtia, Aural Atresia, Hemifacial Microsomia, Macrocephaly, Hypotonia and Tracheotomy, to name a few. These days I rattle them off with ease, I can explain what each one means to ME and how it affects Austin. BOR contributed to Austin's ears not developing, his jaw being so small that his tongue obstructed his airway, and some facial nerve paralysis.

Although Austin’s life would not be possible without a lot of assistive medical technology; he does have a life, a very full life indeed. He is like any typical 23 month old, he enjoys hanging out with his cousins at Disneyland, watches Blue's Clues, plays with blocks & puzzles and reads his favorite books.

While going for doctor visits or having therapists and nurses in his home are common for him, he remains friendly and (mostly) happy to see them. To explain how he lives his life with a Trach, G-tube or Chronic Lung Disease would require a much lengthier story than we have time and space for here, but in all of his struggles Austin has continued surprise us with his utter resilience. You can read the details on his blog.

HE HAS WHAT?

Microtia is an incompletely formed ear. It may be just a small ear, or other variations including having only a bump of tissue at the location where the ear should normally be found. Microtia may occur as an isolated deformity although it typically presents as part of a spectrum of other defects, either minor or major. It occurs more commonly in males and on the right side (unilateral). Approximately 10% may occur on both sides (bilateral) which is Austin’s case.

Aural Atresia is the closing or absence of an ear canal in the middle ear. Microtia and Atresia can occur alone or together. They can also be associated with Hemifacial Microsomia.

Children born with bilateral Microtia/Atresia often require bone-conduction hearing aids within the first few months of life. Austin got his hearing aid at 4.5 months. Although the surgeries to correct this problem used to be started as early as 4 years of age in the past, most surgeons prefer to start the external ear surgeries at about 6 to 7 years of age.

Hemifacial Microsomia is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear and partial facial paralysis. The syndrome varies in severity, but always includes the underdevelopment of the ear and the mandible. This is the second most common facial birth defect after clefts.

The jaw abnormality (micrognathia) in children with hemifacial microsomia may range from a small but normally shaped parts of the jaw bone resulting in a mild asymmetry to complete absence of these structures resulting in a more severe jaw deformity. Because of the jaw abnormality these infants may be at risk for breathing and feeding problems and need to be evaluated by a specialist if there are any indications of airway compromise or failure to gain weight. Occasionally a tracheotomy and/or gastrostomy are needed to help with breathing and feeding.

Branchiootorenal (BOR Syndrome): Just like any other syndrome there is not one clear cut case of BOR, it is actually now classified as a spectrum disorder.

The B in BOR refers to the branchial arches, the area of the embryo that develops into the outer and middle ear, the neck and the lower part of the baby's face. There are several types of malformations of the branchial arches in BOR; Austin has auricular pits, which are very small holes about the size of the hole in a pierced ear, just below his ears. Normally these might be found on the neck area.

Oto refers to the ear and in particular the hearing loss that is part of the syndrome. The hearing loss can be sensorineural, conductive or mixed. It can be stable or progressive and the severity can range from mild to profound. Austin has bilateral, severe conductive hearing impairment (70-90dB).

Renal refers to the kidneys which can be abnormal in size, shape and/or structure. They may be smaller than usual or have a malformation that does not interfere with function or cause any symptoms. Austin thankfully does not have any kidney problems at present.

BEYOND THE FACE IS A HEART

Children with craniofacial differences come in many packages, but the one thing all have in common is that there is a living, breathing, feeling person behind those big named syndromes and disorders. These kids are funny, serious, loving, quirky, accepting and enduring. Each should be acknowledged for their own individual talents, as well as, their challenges.

Keep in mind beyond the face is a heart; the person you are staring, gawking or pointing at is someone's much loved child, it may be my son. Consider instead, a smile and a wave.



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There are many wonderful organizations you can consider supporting. They offer affected families medical treatment or support and resources.

Children's Craniofacial Association (CCAKids)
AmeriFace
Little Baby Face Foundation
FACES: The National Craniofacial Association
Foundation for Faces of Children



11 comments:

Creepy said...

A smile for sure... and a strong urge to pinch his cheeks.

Heaven Scent Farms said...

Janis, Awesome, well written article. My son is now 10 and also has HFM, RMA and GS. I find people stare and gawk at thinks they don't understand and can't explain. Great job explaining. Everyone is created for a purpose! Blessings to you,
Elaine

Candace said...

Janis,
Hi nice to meet you. Your son is a beautiful miracle. It was fascinating learning about him. He is a real charmer! My daughter, Faith, has spastic diplegic CP. She also has craniosynostosis a craniofacial deformity at birth, but it was corrected at 10 months.

Janis said...

Crisitn - yes, we do A LOT of cheek pinching!

Elaine & Candace - Thank you so much! I just arm myself with information and if all else fails. I STARE right back!!! ;)

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shashank said...

Here is a link to more information about the genetics of Branchiootorenal Syndrome that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Branchiootorenal_Syndrome/68. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

shashank said...

Here is a link to more information about the genetics of Branchiootorenal Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Branchiootorenal_Syndrome/68. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

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