Alex's Story, The Second Year - Rainbows Down Under

1995 ~ 1996
Unfortunately the surgery to place the gastrostomy tube highlighted another problem, hypoglycaemia. This is an endocrine problem caused by a the lack of an enzyme in his liver which means that he cannot convert stored energy into blood glucose, the bodies source of energy.

We never noticed it before the surgery because I was religious about feeding him every 3 hours, even through the night. This was my valiant attempt to get him to put on weight. Once he had the feeding tube he was getting more each feed and so went longer in between and I finally stopped the night feeds. This meant that his blood sugars would drop, never so low that he lapsed into a hypoglycaemic coma thank goodness, but low enough to make him lethargic and irritable. The lethargy and irritability immediately resolved after he had eaten. It was made worse at the time because he wasn't tolerating the formula that the dietician had him on and he had chronic diarrhoea.

I spoke to other parents of children with CHARGE syndrome and some found the same thing. Alex's paediatrician referred us back to the GI doctor who laughed at the idea he even wrote back to the paediatrician and told him that I was just a neurotic mother and that Alex couldn't possibly be hypoglycaemic!! After a few months when the problem didn't resolve the paediatrician (one terrific doctor who actually BELIEVES parents!!!) referred us to an endocrinologist. The endocrinologist was also disbelieving but agreed to check him for hypoglycaemia just to keep me happy and also for growth hormone deficiency (GHD) as he was still quite small for his age and this is a known problem in children with CHARGE.

A few weeks later we were admitted to the New Children's Hospital at Westmead and Alex was fasted and his blood sugar levels were monitored regularly. Within 8 hours Alex's blood sugar was so low that he got very, very floppy and started to lapse into unconsciousness. The nurse could not end the test and give him something to eat until the doctor had been called. So convinced was he that Alex did not have hypoglycaemia that he wasn't even in the hospital and could not be reached! The test was eventually stopped when Alex's blood sugar levels got so low he started to have convulsions. How hard it was for me to watch Alex go through that and they still needed to do the growth hormone testing!

They gave him a little while to recover from the hypoglycaemia and then did the growth hormone testing. They decided not to do the Arginine challenge, which is the more reliable GH test but instead they did a short test. I was too traumatised from watching Alex go through the hypoglycaemic crisis to argue. The results eventually came back that he was producing "some" growth hormone. I now know that he should still at some stage have the long GH test to see how much, but at this stage we are keeping it on the back burner.

As a result of the hypoglycaemia diagnosis Alex must have small frequent feeds and lots of complex carbohydrates to keep his blood sugars level and in addition he is fed continuously overnight by a kangaroo pump. Although this sounds terrible, once diagnosed it has been fairly easy to control and the best part is that I no longer have a child that is irritable and cranky. We never did go back to the GI doctor, but I know that he heard about the hypoglycaemic diagnosis!! I have seen him in the hospital since but he always avoids me and never speaks to me at all!!!!

Alex having dinner with his tube

Unfortunately the intermittent apneas have not been easy to diagnose and treat. Alex continued to suffer from these and they were not completely alleviated by the C-PAP though they were certainly a lot better! They still scare me to death and a few have been very worrying. I know that one day we will get an answer. In the meantime Alex is still on an apnea monitor which can be a pain but it is definitely better than not having one!! A lot of time this year was also spent in hospital unfortunately trying to sort out the medical issues and because of repeated respiratory tract infections. Alex seems to catch anything and everything that is going around.

I know that all this makes it seem like Alex is a very sickly child and a lot of work, which it is, but in most other ways Alex was a pretty "normal" and obnoxious toddler, said most lovingly. He is the light of my life!

The surgery for the g-tube also seemed to be a turning point developmentally and Alex came ahead in leaps and bounds. It was like we had taken the pressure off him to survive and he could devote his energies into being a child.

Alex never really crawled for long and spent a long time "cruising" the furniture. He loved animals to the extreme and would do anything to play with his cat. Unfortunately after losing 2 kittens in a short space of time we decided to venture into the world of dogs and approached the NSW Guide Dog Association for a Pets as Therapy dog (PAT). And so entered Jasmine into our lives.

Jasmine soon became Alex's best friend and they were inseparable. They literally did everything together, including mischief! Jasmine was also better than any walking frame and more tolerant than people were. Alex would hang on to her and walk around the house. One very special day at about 19 months Alex let go and Jasmine kept walking, Alex followed.....he was walking!! This was a truly magical day I am sure you could hear my squeals of delight half way across town. Soon after the physiotherapist decided that he could come back yearly for monitoring as his gross motor skills were quite age appropriate really.

Alex and Jasmine

It was about this time that we saw the original genetics team again to update them on Alexander's progress. They were suitably amazed and impressed. After reviewing all the information they agreed that Alex possibly did have CHARGE Association but that maybe he had something called Di-George sequence (a micro-deletion on the 22^nd chromosome) because of the endocrine problems. So another chromosome study, a FISH test, was arranged. The results of that chromosome test came through on June 24th 1996, a day I will remember for the rest of my life. I had always spoken to the genetic counsellor when I phoned but on this occasion she went and found the doctor to speak with me..... alarm bells started ringing....... and they really started to chime when she started the conversation with "we weren't expecting this". She told me that the tests showed Alex had mosaic Trisomy 18. Despite all my years of working in disability I had never heard of it and no-one could tell me a great deal except to say that most children die at a very young age, so little was known.

No one can offer me any real answers as to why the original chromosome report came back as "normal". It can't have been contaminated by maternal cells as it was a "normal male" karyotype. The two possible explanations that I have been offered are that a) only the "normal" cells grew when the karyotype was cultured - very rare but it can happen. (a less than 0.01% chance) Or b) that somehow the blood samples got mixed up with someone else's. I was at Alex's crib when the blood was drawn and that certainly is a possibility in my mind. Without spending a fortune getting DNA testing done on the original slides, which may or may not work, I will never know the answer to that question.

And so started my quest to find out more. This wasn't easy as not a lot was written. What information that was available through the medical literature was grim and old. It talked of cases not people, statistics not life. Despite the fact that it wasn't uncommon people just didn't talk about a syndrome where the children often died. Eventually I found SOFT USA, thanks to a very special OPTUS international operator late one night. SOFT USA and SOFT UK were my salvation sharing real people who had also been there and a lot more up to date and accurate information than was available directly from the medical people. Most importantly I found out that NOT all children with Trisomy die. That there were some "children" in their 20's, 30's and 40's with this disorder. And not just children with mosaic T-18, many of these had "full" trisomy 18!!

The diagnosis was also a great blessing at least now we knew why Alex was having problems and we were in contact with others even if they were on the other side of the world

I often wonder if life would have been easier if we had had the correct diagnosis from birth or even before birth. My life was very complicated before Alex was born and that plus my single parent status, I know that had I received a pre-natal diagnosis along with the grim predictions of the medical profession I would have terminated the pregnancy. I am still very upset that the results of the prenatal AFP were not explained and follow up testing was not done. I have coped though and I will cope but I admit that I am a very different person now to what I was before Alex was born, for the better I think. I don't think it would have been any help to have the diagnosis sooner after Alex was born. After talking with many other parents I think that even less would have been done to help Alex because the medical profession are often so reluctant to treat our children because they view T-18 as being incompatible with life. It may have made my life easier as we could have implemented monitors etc a lot earlier and we certainly would have not been as surprised by all the problems. I am still very bothered by the knowledge that had Alex died in those early days, which is not uncommon in children with T-18, I would never have known the reason why and would almost certainly have blamed myself.

Visitors since 1st June 1999

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