Monday, December 29, 2008

All about my sweet Sara

A slideshow of Sara's first year:

Sara was diagnosed with CHARGE syndrome at about 3 months of age, and eosiniphilic esophagitis around 15 months old. These are both very rare conditions, and even more rare for them to present together as in Sara's case. She was born with a unilateral cleft lip and palate, and here in Atlanta the Scottish Rite protocol is to visit the craniofacial clinic, which includes consultation with a geneticist. Our geneticist suspected CHARGE as well as several other genetic syndromes, and for a short time even cystic fibrosis. She had blood drawn to screen for the syndromes suspected, all of which returned negative. Her blood and sweat tests for CF tested negative as well.
At the time of Sara's birth there was no test for CHARGE syndrome, although I do believe they have identified certain chromosomes by now. CHARGE is an acronym for the midline birth defects that may occur together. Sara was sent to many different specialists and had several systems of her body examined and tested before our geneticist would mention CHARGE as a possible diagnosis. A child might have only some of the 6 major diagnostic criteria, and then there are other related minor diagnostic criteria that may be related as well.... no child with CHARGE is like any other.
Please take a moment to read about CHARGE syndrome straight from the CHARGE Syndrome Foundation website. their information is far better than I could write, and easy to understand. Sara's CHARGE diagnosis consists of the following conditions:
C- Coloboma Sara has colobomas in both of her eyes, in one eye it effects the retina and optic nerve and the other just her retina. This was found during an ophthalmology exam at 2 months old. We do not know yet how this affects her vision. Part of her care plan this year is mapping together her viable field of vision in preparation for entering the public school system.
H- Heart defects Sara had a PDA at birth that closed safely without surgical intervention, and a heart murmur which she outgrew by 2 yrs. She received antibiotics for the first two years before all of her surgical procedures, and was eventually discharged by cardiology with a healthy heart.
A- choanal atresia Sara had choanal atresia in her right nasal passage. We traveled to Cincinnati every three months for nearly three years for a series of surgeries/ dilations, and several sets of nasal stents to keep the tissue in her sinuses open. Her scar tissue liked to grow like crazy after months of wearing stents. She suffered from obstructive sleep apnea and stridor for the first three years, and usually slept with a pulse ox monitor, and blow-by oxygen to keep her oxygen saturation at a normal level. Her tonsils and adenoids were removed to make even more room..and we hope to avoid nasal dilations in the future. We thank God and the doctors at Cincinnati Children's Hospital Medical Center everyday for sparing her a tracheotomy.
E- ear malformation Sara has the characteristic CHARGE ear, low set and missing part of the helix. She also has mild conductive hearing loss. She has PE tubes in both ears, placed at 2 months old.

cleft lip and palate- Sara had a severe unilateral cleft lip and palate at birth that has begun to be repaired surgically. At two months she had a Latham oral device placed to minimize the width of her cleft. At four months she had her first plastic surgery to construct her lip and nose. She had very serious complications after this surgery and was on life support for over a week. We learned later that this was because her choanal atresia had gone undiagnosed. She had her first palate repair at 12 months and had an unusually long, complicated recovery in the PICU at Scottish Rite, once again because her choanal atresia had gone undiagnosed. She still has fistulas in her palate and needs more surgery to complete her reconstruction.

torticollis- Sara's neck favors one side. She was referred to PT at 2 months. This is probably due to blind patches in her vision combined with weak muscle tone in her neck.

hypotonia- Sara has low muscle tone throughout her entire body, including her tongue and swallowing muscles. She is g-tube fed because she aspirates liquids when she swallows.

GERD- Sara has had GERD since birth and has been medicated with prilosec to manage it. This diagnosis lead to another diagnosis, unrelated to CHARGE syndrome called eosiniphilic esophagitis, which is a major challenge in Sara's health and overall well being. We have not met any other CHARGE kids yet with this diagnosis.

Reactive Airway Disease- this is essentially asthma in young children. Sara receives breathing treatments of pulmicort daily, and albuterol frequently as needed. When her upper airway becomes tight or congested, it usually triggers aggravation and fatigue in her lungs.

developmental delay- Sara is nearly five years old and seems about two years behind developmentally (gross motor skills more so than fine motor skills, speech severely delayed). We attribute this to her hearing and vision impairment and frequent hospitalization.

OCD/ autistic type behaviors- These are a little more difficult for me to share and explain. Sara bangs her head and hurts herself when she does not get her way, and often times it is a random whim that seems to come from nowhere, and quite predictably about food she cannot have due to her allergy; eosiniphilic esophagitis. She obsesses over certain movies and children’s shows, wanting to view them repeatedly, literally several hundred times.
Eosiniphilic Esophagitis
Totally unrelated to CHARGE syndrome is eosiniphilic esophagitis. My layman’s explanation is that, in Sara's case, she is allergic to almost all foods. Sara was referred to Cincinnati Children's Hospital Medical Center in Ohio for a rare airway obstruction called post- crycoid hemangioma. It was a cluster of blood vessels that had built on her vocal chords, and whenever she cried or created pressure struggling to breathe through her constricted nasal passages, this mass of tissue would inflate with blood and completely obstruct her windpipe. It was removed in a series of several laser surgeries. Because of her complicated sinus, digestive and lung history, she was automatically tested for all sorts of things while under sedation in Cincinnati. This is where eosiniphils were first discovered in her esophagus, where they do not belong, which then lead to the diagnosis of eosiniphilic esophagitis. Regular food causes reactions in her esophagus that create long term, irreversible damage. Her diet is almost exclusively a powered amino acid based medical food called elecare, delivered via feeding tube. To learn more about eosiniphilic esophagitis here is a great site: Click on the informational video "Life without Food".
Now that I have typed all of that, I realize that if you have not ever had the pleasure of meeting Sara, you might think that she leads a pretty depressing, awful life, but that is just not the case. She is full of love, and light, and spunk, and laughter and energy. She is so funny, and such a precious, life changing treasure to just about everyone she meets. She is overall, a happy child. She loves to dance, and to torture her big brothers. She is learning sign language, playing with Bratz, chasing the dog, bullying boys in her class and making me proud every single day!

A slideshow of Sara's second year:

1 comment:

  1. I had simply no idea of the extensive complexity of what Sara and you endure. There MUST be something someone somewhere who will read this and do something ANYTHING. ((((((((((((((SARA)))))))))))))) Wishing you so much love right now.