Could my child be disabled, like me?

[qzk]

This is my first thread at this forum - I only found out about this a few days ago.

I have a concern and would like some advice on it before I do anything about it.

I myslef am disabled - suffering from SMA 2 - and have been confined to a wheelchair since childhood. I started walking when I was 18 months but then stopped a year later. I was then diagnosed with this genetic illness. I then used crutches, then a manual wheelchair - and when I was 12 I had a powered wheelchair. So over 10 years I lost strength in most of mu muscles. I now am able to just about use my fingers and feed myself and do other minor things with my hands. I am in my mid-30s.

I got married with an able-bodied woman a good while ago and we were then blessed with a young daughter (who is 30 months right now). Before we tried for a child we did see a genetic specialist and he informed us - after a few tests - that the chances of a child of us getting the same disease as I have was 1 in 8000. This was because my wife was not carrying both forms of the gene. Apparently everyone carries one form of the gene but in my case I carry both forms - hence my condition. But my wife is 'normal'. The reason I am the way I am is my parents both carried both forms of the gene and the odds of their children having this illness was 1 in 4. And that indeed was the case - I have 6 other siblings and 1 other is same as me.

After getting this good news from the genetist we tried for a child and my wife conceived the normal way. The baby was born and everythging was well and she developed above-average than a normal baby. She was born 6 lbs and is right now 18 kilos - 3 kilos above weight. She started walking when she was 13 months old and is now running around more than her mother. She even tires her out sometimes.

However - the baby has recently stareted complaining about leg pains - sometimes in her thighs - sometimes in her limbs - and sometimes in her knees. Its never for too long but it stops her from doing whatever activity she is involved in and she jumps onto the bed - gets a drink and rests for 20 minutes or so. When you ask her about the pain she explains where it is. After a while she gets up and starts jumping around normally.

My wife is unaware of my concerns but I am worried. As I think these pains could be early signs of the disiese I have. I cant be sure until I get the baby checked out but to do that I will need to make my concerns aware to my wife. And that I dont want to do as she is very tempremental to these kinds of issues. The mere thought of her child might be disabled could send her over the edge. She is already on anti-depressents due to another issue with her father and brother.

I have researched online about early signs but cant seem to get any solid answers.

Any advice on how I can get about on this would be more than appreciated.

Hi qzk,

I didn't know anything about SMA 2 until I read your post and did a quick search online, but I didn't want to leave your post unanswered.

My husband was diagnosed with a genetic disorder (Marfan Syndrome) just before he went into his teens. Like you and your wife, we went for genetic counselling when we decided that we would like to have children. Marfans is autosomal dominant, so any child of ours had a 50/50 chance of inheriting it.

Despite these odds, we went ahead and I had a healthy son. We went on to have another child, a daughter, who has inherited Marfans. Both children had the genetic test when they were babies - they are now aged 8 and 7, as although there is no cure I would rather know what I was up against (if anything).

The hospital obviously knew about my husband's condition, and had intended to see both children regularly in the several relevant clinics, to ensure that they weren't developing any problems. Having a negative genetic test meant that at least our son didn't have these multiple check ups. We had contact with the Clinical Geneticist through the first 18 months or so, and we have been told that we can see them when the children are ready to ask questions of their own.

My daughter had more regular check ups and they did find problems much earlier than if we'd just let her be. It did mean that she had to start taking heart medication when she was 18 months old, but it is strangely reassuring that they monitor her so closely, as the heart complications with Marfans can be fatal.

Without rambling on any more (sorry!), I understand how stressful it can be to have a child that may or may not have a genetic condition. I think that it might be worth getting a referral back to Clinical Genetics/Genetic Counselling as a family. They were excellent with us, there was no pressure to have any tests if we didn't want them. Your daughter's leg pain might just be simple growing pains - but if they aren't, there may be ways of monitoring/managing her condition now that weren't available when you were a child.

qzk - it's a horrid feeling that you may have given your child something you have isn't it? You have my sympathy. I had a completely different spinal problem from you as a child and am waiting to discuss my DS1 with my GP on Monday.

All I can say is that you need to discuss any concerns you may have with your GP / Consultant.

I just didn't want your post to be ignored.