Daisy and Huxley were both born with entirely different chromosome abnormalities. But I don’t like the word abnormal. What is normal anyway? Let’s call them chromosome challenges!
We discovered Daisy had a chromosome deletion when she was about 2 weeks old. She is missing a fairly substantial part of chromosome 13 (between q12-q32 for those in the know). Thankfully Daisy is what they call mosaic, meaning not all of the cells in her body have the deletion. I say thankful because this means that her symptoms are reduced slightly. With such a big part of the chromosome missing, if all her cells were like this I dread to think the disabilities she would have.
Medically speaking her chromosome 13 deletion means that she has low muscle tone and developmental delays. But what does this mean for her in everyday life?
- Retinoblastoma (Eye Cancer) – two months of chemotherapy from 3 weeks old, and then laser treatment
- Doesn’t eat. Is fed through a gastrostomy tube in her tummy
- At 2.5 years old she can now sit, but doesn’t like to!
- Hearing Impairment in both ears; she has awesome glittery pink hearing aids (I’ll be somewhat gutted when she gets to an age where I no longer get to choose them!)
- Developmental Dysplasia of the Hips – she was in a hip spica for 6 months
- Serial projectile vomiter – the reason for which we can’t fathom. Could it be too much milk? Could it be a milk intolerance? Could it be reflux? Could it be from being too hot? Could it be her low muscle tone? Prizes for the person that ever works out how to stop it.
- Problems gaining weight
- Small for her age
- Wouldn’t touch anything until she was 1 and a half. Still doesn’t like people to touch her hands!
- We have never had to cut her nails; they are so soft they just seem to tear off without us knowing.
Despite all this, Daisy is one of the most chilled out happy children you could ever have the pleasure of meeting and she touches the hearts of everyone who meets her.
We always planned to have more than one bambino but were concerned after Daisy that any more children would have the same condition. The medical people were fairly confident that it was a one off, because for Daisy to have some ‘normal’ cells, the deletion couldn’t have been there at conception. For reassurance they tested our chromosomes and we got the ok.
So we decided to have another baby. I am not going to pretend I wasn’t a bit worried but I am a scientist and I knew the statistics meant it highly unlikely we’d get another baby with Daisy’s condition. We were offered an amniocentesis, but declined it as we knew it wouldn’t affect our decision to continue with the pregnancy. We did have the nuchal screening but it didn’t come back particularly high risk for my age. I suppose looking back 1 in 278 does seem quite high but it wasn’t for 38 year old me. I gave birth to a beautiful baby boy, Huxley, and all seemed well and we breathed a sigh of relief. Then, the following evening, when he had failed to latch on and was a bit jaundice, the Drs hit us with the fact that they thought he might have Down’s Syndrome. It was a huge shock. But never a disappointment.
Huxley is now nearly 4 months old. He is another happy, content little champ who is doing superbly. The biggest worry for children with Down’s Syndrome is their hearts. Huxley has a small heart murmur but we were told unless he wants to be an astronaut or a deep sea diver he’ll be just grand. Please don’t anyone mention those careers to him!!! He has fairly good muscle tone and he gave us a smile at 6/7 weeks. We are hopeful that he will meet his milestones at around the time he would be expected to.
So thats us. Me (the messy Mrs), him (the tidy tyrant) and two chromawesome kids.
****Update – Daisy at 2 years 11 months and Huxley at 8 months****
- Daisy is now keeping most of her food down thanks to a blended diet (we whizz up food in a blender to a puree consistency and it goes down her gastrostomy button)
- Daisy can now stand up with support
- Daisy is now tasting some foods after watching brother Huxley tuck into food
- Daisy can hold a cup and drink out of it herself (she still doesn’t swallow much of it!)
- Huxley is sitting up on his own and trying to get himself up from lying to sitting
- Huxley is loving his food