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Infants with Duchenne’s
Hi everyone, greetings from Ireland.
I’ll spare you all the long stone and cut to the chase. My partner has a history of Duchenne’s in her family, she had two uncles who died but luckily her brother is fine. We had been led to believe that she was not a carrier but after she gave birth to our son she found out that she had not been given tests as a child to find anything out which she was assured she had been given. After months of waiting she had genetic tests and we found out yesterday that she is a carrier for Duchenne’s. Our son is one year old in less that two weeks. So far we can see nothing wrong. He started walking 10 days ago and walks everywhere and he’s been standing since 8 months. He seems strong and healthy but I know that’s no guarantee. There seems to be so much conflicting information online that this seemed the best place to turn. What should we look out for? Thanks for any replies,
Tom.
Re: Infants with Duchenne’sHello Tom [and Maria]
Yes the wonderful internet world can bombard you with so much information, not all hepful and like you said, some conflicting. But this is the difficulty with MD, everyone’s MD is unique to them in how it progresses, where to and when. if only it followed a strict defined path. The main website has some amazing leaflets, articles and help pages, but most are geared towards those already diagnosed or with strong symptoms.
The only page I have found about symptom listing is on the NHS site NHS Symptom Sheet … although it is pretty non-specific.
On Facebook there is a family support group which may put you i contact with other parents who have toddlers who can explain how they noticed symptoms in their little ones DMD Support Group
As your wife has been diagnosed as a carrier, would it be possible to push for your little one to be tested?
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: Infants with Duchenne’sThanks for all the info. That’s very helpful. We’re hopefully getting him tested soon, just waiting for the referral at the moment. Yesterday he started jumping and he’s only 11 months so we’re taking that as a good sign.
Re: Infants with Duchenne’sThat does sound encouraging.
I have ask HQ whether there is any info geared towards people who have recently discovered that they are a carrier. I will post here if I find anything.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: Infants with Duchenne’sHi Tom,
Sorry to hear about the problems with the genetic testing for your partner. I’ll try to answer your questions – and if I miss anything, or there’s anything else you want to ask please let me know – either by posting here or by email (n.bennett@muscular-dystrophy.org).
Most boys with no family history of Duchenne muscular dystrophy aren’t diagnosed until the first signs of Duchenne muscular dystrophy appear – usually problems with muscle function (for example difficulty running and jumping), enlarged calf muscles and/or delayed speech development.
With your partner’s diagnosis as a carrier of Duchenne muscular dystrophy, it would be worth talking to your GP and asking for your son to be tested. They should be able to refer you for genetic testing which will give you a definite answer about whether your son has Duchenne muscular dystrophy.
There certainly is a lot of information available about this condition on the internet. There’s an interesting piece in the latest issue of our Target research magazine called wading through the information jungle which might be worth a read (http://issuu.com/musculardystrophycampaign/docs/targetresearch_1of4_2013_web) and as a starting point, you might want to read the Duchenne muscualr dystrophy factsheet on the main website (http://www.muscular-dystrophy.org/assets/0003/0162/Duchenne_MD.pdf) which has information on the early symptoms and the diagnosis of the condition.
I hope that is some help. If you have more questions please feel free to email me.
Neil
Re: Infants with Duchenne’sHi Tom,
I have two boys with Duchenne, and like you a wife with a family history of the condition (although she already knew she had it). We had both of our lads tested (a blood test) when a few months old – they are now 7 & 6 respectively. As your wife is now confirmed as being a carrier I would also look into having your wife tested for Cardiomyopathy (which is a weakening of the hearts muscles making up the chambers). The reason I say this is because around 10% of women who are carriers suffer from this condition also. (My wife does).
She takes medication to help her heart muscles, and has checkups at our local hospital every couple of years. Please don’t think ‘Oh My Gosh!!!’ but it’s just worthy pointing it out to you both…
Take care and be strong! together we can beat this wasting disease!!!!
Kind Regards,
Mike Taylor
Re: Infants with Duchenne’sThank you for all this info. I will wade through it all. I hadn’t realised that a late development in speech was also a sign. With our boy this is the only thing he is behind in. He’s now running, climbing and had great fine motor skills but he’s not saying a single word at 13 months. His mother is Spanish so we are raising him bilingually so hopefully that’s where the delay is coming from. We have our appointment with paediatric consultant next week and they will hopefully be testing soon.
Re: Infants with Duchenne’sHi Everybody,
We have seen the paediatric consultant now. He passed the physical exam with flying colours and the consultant said she hadn’t seen a one year old with such good motor skills at that age in a long time which is very pleasing. He had blood taked for a creatine kinase test and a genetic test (which takes months and months here). We got the creatine test result back today and his level was 220. The doctor said that 170 was the upper limit but that 220 isn’t that bad. She said that most children she had seen with dystrophy had levels in the 1000’s and normally above 2000. So she said it’s good and she thinks he’s fine but obviously any elevation in this test is worrying us a lot. Saying that he started to climb this week and we can’t keep him off things so we are still positive but we don’t know what to make of the results so far…Thanks again for all your very helpful replies.
Tom.
Re: Infants with Duchenne’sHi all,
We’ve had Michael’s genetic results back and it came back negative. He doesn’t have Duchenne’s. We were confident considering how active he is but it’s such a relief to get the news. Obviously, this is something that will still effect us as my partner is a carrier and has muscle weakness and we are waiting to have her tested for cardiomyopathy. It will also effect any decision in regard to future children. Thank you to everyone who gave us advice and got in contact…we will continue to read the forum and we hope to raise money to dystrophy charities here in Ireland…
Tom.
Re: Infants with Duchenne’sGood to hear from you Tom. The test results must have been something of a relief. Don’t forget even as carrier we have some wonderful people who can give adivce and support if/when needed.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
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