Normal babies don't lie there unmoving, unable to feed, eyes shut, and not making a sound. I managed to convince myself he was "stunned" , but then watched as he was whisked away from me to SCBU and then suddenly a list of his "unusual features" appeared. We were told they suspected something seriously genetically "wrong" and had a horrendous 3 day wait in hospital before a geneticist was available.
During those few days time seemed to slow right down. i did that really bad thing of trying to get on the internet with poor signal in the hospital to google his symptoms. We quizzed drs who remained evasive and I played " would I rather" ( see a previous post). When tuesday finally came I expected the geneticist to walk in and tell me the name of the syndrome my son had. I knew this would be hard to deal with and i was terrified, but i felt we would be able to move forward and start to make plans for our life with our son. However i soon found out that this was not the way diagnoses are made. I was shocked to see my tiny baby under extensive scrutiny as the geneticist searched for "clues" to his condition. Pictures were taken, tests were ordered and we were told she was confident of a diagnosis, but wouldn't say what until the tests were back. A cornered paediatrician eventually let slip the condition they were testing for and google provided answers to questions they wouldn't give. This was the first of many syndromes with short life expectancies considered as a possible diagnosis for Nate. The first 6 months were full of ultrasounds, x rays, MRIs , blood tests and metabolic tests as they continued their search for " clues". At some point we stopped living on tenterhooks waiting for test results and a diagnosis and started to get on with our family life. Actually I know at which point it was, it was after a 13week wait on DNA sent to Holland to confirm a "definite" diagnosis and the stress and worry of those weeks in the run up to what might have been his only Christmas, and then for the tests to be negative....
The testing has petered out now as the professionals run out of ideas. The geneticist eyes him hopefully when we see her, asking after any new symptoms she can use in her quest to find a diagnosis. We want to know which condition my son has for several reasons; to inform us and his team of caregivers and professionals, to shine a light on what to expect in the future, and we want to be prepared for any nasty surprises, or maybe given a bit of hope. It would be lovely to be told something good for a change.
The fact remains that whatever Nate has is so incredibly rare we are unlikely to get a diagnosis. When people ask "what are they doing next to find out what he has?" i have to try and explain that he's had every test available including a full chromosome micro array which can show small changes on a chromosomal level. So until any new symptoms/pointers/signs/clues/issues" arise ( and I hope they don't ) Nate will remain "undiagnosed".
So what are we doing? We are living our lives.
N.B - the " list"
Unusual head shape, wide set eyes, flat nasal bridge, pin prick dimple between eyes, small nose, down turned mouth, low set rotated ears, high arched palate, core hypotonia, inadequate nighttime breathing ( shallow breathing and central and obstructive sleep apnoea- requires ventilation), ASD ( resolved), lump in mouth ( removed), contractures of fingers and excess skin between fingers, undescended testes, webbed toe. 50/50 tube fed vs oral feeding, reflux and air in stomach issues, stomach high up in the wrong place, visual impairment, possible auditory processing problems, non verbal, non mobile and has PMLD.
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