Friday, 16 March 2012

Piece of string

Human Chromosomes.

It took until Max was 6 to find the answer to the cause of his difficulties, a small deletion
 ( piece missing) from chromosome 16. The road to this discovery was a long and difficult one. I will try to explain the process and the emotions that went with it.

Prior to having a child with a disability  I assumed that if your child was born with a medical condition or disability that there would be a team of Professionals involved who would all use their skills and knowledge to support the family and advise on the correct diagnosis and treatment. Oh how naive I was! 

At sixteen months we were told by a Pediatrician that Max had global developmental delay and low muscle tone. We weren't given a leaflet, the name of a support group or a contact number . We were simply sent home to return for a Child Development Team Assessment several months later. So being the sort of person I am, I immediately turned to technology for answers. I spent hours, searching the internet, scaring myself silly, reading about life limiting conditions that I became convinced Max had. I joined an American Group for parents of kids with hypotonia ( low muscle Tone) and soon began to learn that these conditions are merely descriptions of characteristics that are common in many Genetic Conditions.  I read about the more common conditions that cause these problems and went for the next Pediatrician appointment armed with questions and expectations. He was tested for Fragile X, Prader Willi and several more, I can't remember. Each test involved an agonizing wait for the results only to be told they were  negative. Somewhere along the way we were referred to a Geneticist, again we wrongly thought there will be answers now! Max had a Chromosome test and we was told his " chromosomes were normal". Still no answers the Geneticist was vague, talked in Scientific terms and loved his analogy about chromosomes being like zips. Now I am a qualified Nurse and Health Visitor, science was never my thing but I'm not daft and can usually make sense of most things but i swear i left those appointments with only a small grasp of what we had discussed and still no answers! 

A couple of years passed during which time we convinced ourselves that a diagnosis wasn't important, Max was Max,no diagnosis or label would change that.

We were trying to convince ourselves it didn't matter, we might never know, it wouldn't make any difference and yet............... I felt lonely, isolated, I secretly envied parents whose children had Down's Syndrome, Autism, Cerebral Palsy. They had support groups, information, some idea how their child would progress but we had nothing. We had no reason , no cause, why had this happened to us? to our Boy?  I constantly searched my memory about the pregnancy, did I take some medication?, what about the 2 glasses of champagne I had at Christmas? My age? I was 38 when I had Max and Richard was 41, had our ages caused it? How could we have been so stupid to think it was alright to have a baby at our age? These thoughts filled my mind day and night, but how could I talk about them? I was scared, terrified, more scared than I have ever been in my life. At other times a lack of diagnosis meant denial, if they couldn't find anything wrong, maybe there wasn't anything! maybe he was just a laid back boy, after all Albert Einstein didn't speak till he was 8!  I remembered the nuchal fold test I had at 10 weeks into the pregnancy. The consultant was surprised by the result,the risk of Down's was very low but the risk of Edward's syndrome relatively high in comparison , was this significant? On and on it went, round and round in my head. 

Then one day I came across an organisation called Unique . Unique but not alone.....i started to explore their website and read about rare chromosome disorders and it was like someone had switched on the light. It made sense, Max shared many characteristics in common with the descriptions of the children featured in their publications. I became convinced that Max had a rare chromosome disorder. We went back to the geneticist armed with this new insight, he muttered and mumbled talked about zips and possible brain damage and still we were no further on. Frustrated I rung Unique and spoke to Beverley Searle , she was fantastic, she listened, she took me seriously, she agreed it wasn't in my mind, Max did share many features seen in rare chromosome disorders. Beverley suggested that we attend the up and coming Unique conference, where she could arrange for us to see a Geneticist.

The day of the conference arrived and Richard and I checked in at the hotel where it was taking place. I began to notice people with labels saying things like 1p del or 7 q dup, we collected our labels they said "unknown". I began to panic , we were intruding in a world we didn't belong ! At lunchtime it was our turn to see the Geneticist, we had prepared an information leaflet about Max highlighting  his difficulties and including details of his development and photographs of him. The Geneticist listened intently to us, then she asked permission to discuss Max with her colleagues. We willingly agreed. Later that day she came back to us. she said she was 99% sure that Max had a rare chromosome deletion. She advised that we go to our Geneticist and request a CGH array test. After she left we hugged each other not sure how to feel, our intuition was right but it was still scary.

On our return to Leeds we emailed our Geneticist to request the CGH array test. He told us that we would do it but didn't hold out much hope of it showing anything and that there was a long waiting list for tests of this type. We asked how long we should expect to wait and his response was " its a piece of string".

Several weeks later after offering to pay for the test ourselves and threatening to make a formal complaint  we received a call at 7 pm one evening to tell us that the CGH array had revealed that Max did in fact have a rare Chromosome deletion! No shit Sherlock!


  1. Hi Caroline.
    What an amazing post and one I relate to for so many different reasons. Your admission of being envious of families of children with a diagnosis is so honest and I feel exactly the same. Well done you for fighting on. I will email you privately as I would love to hopefully give you some genetic consultant contacts who can aid your journey. Thank you so much for linking up to the BritMums Special needs round-up. And please keep in touch. Love Alex from Doing it all for Aleyna xxxx

  2. Thank you so much Alex, your comments mean so much to me. Would love to get some information from you about genetic consultants who can help. We have had some wonderful input from Unique but unfortunately our local Genetics Department has been unhelpful to say the least. Max' s particular deletion is extremely rare 1 in a million so information is scarce but always welcome. Will definitely keep in touch. Caroline xxxx

  3. Really interesting. My son is now thirteen and no-one really knows what is wrong with him. His diagnosis for years was GDD. It's now autism, poor muscle tone, severe learning difficulties, epilepsy and brain damage. Which is more of a description than a diagnosis! I've never really bothered about looking for 'the answer' - Tom is Tom and i am not really that bothered beyond that. But, having read your blog, am a bit more interested!


  4. Hi Annie, thanks for taking the time to read my blog. Tom sounds like he has similar issues to Max. I understand what you mean about a diagnosis not changing him. For me a diagnosis was more about helping me to understand what had caused Max's difficulties and being able to then connect with others in same situation, although easier said than done as Max's particular deletion is extremely rare! x

  5. Annie we left off genetics for some years did the rounds age two etc then revisited when my son was age 13 as i was aware things had moved on - eventually got the CGH micro aaray test done (looks at all chromosome sin detail for small delatins or duplications -much more detail than the standard chromosome test done in amnios etc.) and it revealed his microdeletion (17q21.31) . which totally fits his autism, LDs, hypotonia etc.

    if your son is ok with blood tests it IS worth getting the microarray done as it can pick up small deletions or duplications

  6. I did not realize that you did not get a diagnose until Max was 6. With Tyler we knew at 22 weeks of pregnancy, but at the time, Tyler was the only one with his diagnosis. There was one other baby on file that died at 5 months of age due to heart conditions, but he had a much smaller deletion that Tyler. We were told he would never walk, talk, crawl or even live to birth. I was told to terminate the pregnancy. Obviously we did not and I could not imagine my life without Tyler in it. We did have support since birth, but once he entered school the support lessened considerably. I love your blog about Max. Even his early photos look just like Tyler minus the glasses that Tyler wears!

  7. Incredible - just read this Caroline. Your journey is so like ours. I, too, envied parents of children with Down's! We waited 22 years to find out the cause of Chrissy's problems. Until then I thought it was everything from my long labour to vaccine damage. Thank God for Unique eh? x

  8. Thank you everyone for your lovely comments and feedback. I have just had an email from Beverley Searle from Unique saying my article will be featured in the Unique magazine this time. I hope it helps others who haven't yet got a diagnosis.