So we headed home and straight for Google - as you do.
Straight away it clicked why she was so cagey, no one wants to say the word 'retardation' these days. Even if it is in relation to growth and not mental ability. But the definition was written in 1979 or something when the condition was labelled and its just never been updated. Its not really used in diagnosis anymore but it still stands just cause it always has I guess. The definition is below with the slightly more PC 'R word' in place.
C- Coloboma of the eye / Central nervous system anomalies
H- Heart Defects
A- Atresia of the Choanae
R- Restriction of growth and development
G- Genital or urinary defects
E- Ear anomalies and/or deafness
These are the major features of the Syndrome (which is technically an association and not a syndrome but thats the most commonly used term). There are also a lot of minor features too. It used to be a clinical diagnosis could be given if a certain mix of the symptoms were present. However recently there was a gene mutation associated with the condition. The gene CHD7 which is linked to develpoment in the very early weeks of pregnancy is mutated in around 50% of cases of CHARGE.
Robyn does have the gene mutation so her CHARGE developments were already in place before we knew she existed. In my very first post I listed several things that were noted during my pregnancy ie enlarged ventricles, polyhdyroamnios, the heart defects, and when Robyn was first born I commented on her ears being a bit different. These four things combined with the Choanal atresia (which caused my polyhydroamnios) should have been enough to make a diagnosis of CHARGE at birth if the doctors had been aware of what to look for. Recently I was asked if i felt CHARGE should be on the list of Syndromes being routinely checked for and honestly I am unsure. It is so rare with cases of only 1 in every 10,000 that based on the numbers I would say no, but if even one doctor had listened to me we could have had a much earlier diagnosis.
Currently Robyn's particular case of CHARGE presents with:
- mutated gene CHD7
- Heart defects (coarctation of aorta and AVSD)
- Bilateral choanal atresia
- Very soft outer ears
- Mixed Hearing Loss to an as yet unkown degree requiring hearing aids
- A coloboma on her left eye. Not visible and as yet unkown effect on her vision
- Growth issues mostly relating to feeding issues and time spent in hospital
- She is tube feeding - currently NG tube but possibly moving to a G-tube soon
- Hypotonia in her upper body
- Develpomental delays due to time in hospital
Robyn is 8 months old but developmentally is more like a six month old. I am hopeful that given enough time out of hospital she will catch up to her peers.
I think this covers the most part of the last 8 months of Robyn's life and the last 14 months of mine. My little girl is a madam and kept me on my toes since the day we found out about her, but we love her none the less.
Robyn at 8 months old