MOSAIC MOMENTS

Yesterday, I explained about the different percentages of cells in mosaic Down syndrome and why percentages do, and don’t matter.

During that discussion, my great friend Heather asked if you could know where the percentage of affected cells were located in the body. This is a Great question Heather, and one that comes up often within IMDSA’s support group.

This is what is so frustrating for parents of children with mosaic Down syndrome. As a parent, you receive the diagnosis for mosaic Down syndrome for your child. You are told that there are a percentage of affected cells somewhere in the body. This could affect developmental milestones…or it might not. It could affect cognitive learning…or it might not. It could affect health…or it might not.

For the parent of the child with Down syndrome, things are not black and white or cut and dry either. But there seems to be less of a question mark about what might or might not happen.

I am certainly not saying, “Hey! At least you know your child will be delayed!” It is more that for parents of children with mosaic Down syndrome, they just don’t know what to expect. (Thankfully, that is beginning to change a little since IMDSA is helping so many with information and research)

So, many parents ask the question of how can they find out what areas will be affected. Where are the affected cells located? Is there any way to find out?

There is a way to find out, however it isn’t very practical and honestly it would help in any way to know ahead of time.

The only way to find out where the cells are located would be to do a biopsy on every area of the body.

For example, you want to know if your baby is going to have a heart condition, you would take a sample from the heart. (By the way, the majority of heart conditions associated with Down syndrome and mosaic Down syndrome are easily repairable and the children usually bounce back extremely fast from the surgery)

If you wanted to know if your child was going to have low muscle tone, you would biopsy the muscles to see if the affected cells were there.

If you wanted to know about learning problems, you would biopsy the brain to find the affected cells. This would be practically every part of the brain, since each part does something different.

So, to answer this question, really… no… there is no way to tell. It is just one of those “wait and see” things. And for most parents that is the hard part. It is like waiting for a time bomb to go off. You think it will happen…. you are pretty sure it will…. but you don’t know when to expect it, so you sit and wonder about it.

In some ways, not knowing can be a blessing in disguise. I didn’t know that Tim had mosaic Down syndrome until he was 2 1/2 years old. Although I wondered why he was delayed, I didn’t sit and wait for some new delay to happen.For me, I automatically expected Tim to do everything that everyone else did. I didn’t hold him back from things and I encouraged him to excell. By not knowing what to expect, I had no preconceived notions of what would go wrong.

I think it is much better to live in the present. Not the past. Not the future. But today. There is no way of ever knowing what will happen with anyone’s life from moment to moment. You could have a car wreck tomorrow morning and receive brain damage or wind up paralyzed.

If someone was able to tell you without a doubt your child with have trouble in this area or that area. Or your child will have this health problem or that…. What would you do with that information? Would it change anything? Would it ease your mind to know that your child would have trouble with 6th grade math? Or, would it trouble your mind even more because you would realize there was nothing you could do about it?

Thanks Heather for the question! Everyone-please feel free to ask any questions by clicking my comments section under each posting. I am here to help! All you have to do is ask!

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