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Newborn Screening for Duchenne – what do you think?
We attended a meeting in London on the 18th of March to discuss the pros and cons of newborn screening for Duchenne muscular dystrophy. Read about it here:
It is a complex issue and we’d like to know what you think.
Kristina.
Re: Newborn Screening for Duchenne – what do you think?my son was just two when diagnosed and i wonder if this had been available,here in England, i would have been listened too,
by the professionals and other family members that something was wrong with my baby,
im still not sure about steriods, though as my son did not react well to them, but at least it would have been a younger intervention.
and given us more time to see how he got on with them.Re: Newborn Screening for Duchenne – what do you think?My son was 4 when diagnosed and I too had several visits to GP, Health visitor and to Hospital before it was realised that I wasn’t a neurotic mother worrying over nothing….he just didn’t move with the confidence of other kids his age, he was so cautious.
I’m a supporter of early diagnosis as I worry what damage is being done with a late diagnosis…my son grew up doing physio, I’m not saying he liked it…but it was part of everyday life and kept him walking until he was about 11.
It is an horrendous thing to be told at any time, but I feel there is/was a lack of support when you are newly diagnosed…I was pregnant at the time too so it seemed the only concern was finding out if I was carrying another child with the same thing, like ‘well that ones no good, lets make sure you don’t have two like it’. Luckily my younger son does not have Duchenne….I always feel that my family was cast adrift by the diagnosis…there was no help…..I felt so alone.
I wonder how the other conditions currently tested via the heal prick test for are supported?
My son is 15 now, clever, bright and gorgeous…Re: Newborn Screening for Duchenne – what do you think?Thanks lizzydrip and lorns1 for your stories. We will pass your comments on to the people at Great Ormond St who are looking at applying for Duchenne to be included in the newborn screening programme.
At the meeting it was mentioned that the situation is similar to that of cystic fibrosis which is included in the current newborn screening programme. There is also no cure for cystic fibrosis, so we should look into the support systems that are in place for people after diagnosis of cystic fibrosis and see if we can learn from their experience.
BW
Kristina.Re: Newborn Screening for Duchenne – what do you think?My son was diagnosed with Duchenne Muscular Dystrophy 1 week before his 4th birthday (it was last year) and I just remember the complete shock and horror when we found out. There is a lot of information on the internet and the first thing we did was to go onto Google and search… the facts came straight to us exactly what was going to happen to our little boy and it was horrific reading – like a horror story but true!!!
The reason we went down this route is because we simply got a phone call on the Saturday morning (just 24 hours after supplying a blood test) that our son had this terrible condition. Then that was it, until our doctor called us later that week. We were left to deal with diagnosis as well as look after our boy and try and hold it in for his sake. It was awful (well horrendous actually) but thankfully we had friends who lived close by to help and support us. Finding out was the worse bit and not having the professional support to explain next steps, etc. straight away was poor. Thankfully the muscular dystrophy campaign website existed which provided lots of useful and informative information.
For me, I think it’s so important we find out asap so we can put all the things into place BUT it is absolutely essential that a team of people are in place to support the parents and help them through those initial stages. For us we had 4 blissful years of not knowing but I would have done things differently had I have known like not go back to work after 9 months maternity leave… instead I would have made the absolute most of his first years instead of him being in nursery. Thankfully after the diagnosis I gave up my job without any hesitation.. and it’s been the best choice I have made.
Re: Newborn Screening for Duchenne – what do you think?Given a diagnosis over the phone! That’s terrible! Thanks for taking the time to tell us your thoughts about it, we have to make sure things are better going forward!
Some more comments from Facebook pasted below:
Naomi Clark-Desender: We live in Manitoba, Canada. All males births were screened for Duchenne at birth for a period of time and our youngest son was one of them. We had never heard the word Duchenne before. He is one of the 6% who is diagnosed without it being passed genetically. He is now 8 years old and rides a bike, swings on the swing set, and runs up stairs. We were able to deal with the grief which comes with the diagnoses and able to focus on the future knowing what can come, but treating him like any other child. We are grateful the diagnosis was at birth.
JoAnne Williamson: All boys in Wales are screened, my son was one of those 12 years ago and he has Limb Girdle Muscular Dystrophy FKRP type 2i, as with Naomi we were glad he was diagnosed with a form of muscular dystrophy at birth (didn’t receive a proper diagnosis of the type until 8 years later) to be able to deal with it and the implications for our other child. However the correct support needs to be in place to deal with the families who receive a positive test result such as family care officers, community paediatricians etc. Its no good screening and then leaving the families to deal with the diagnosis alone. We were lucky that this was all in place. It also helped to be able to plan for school and home adaptations etc as everything takes so long to implement.
Re: Newborn Screening for Duchenne – what do you think?My son was diagnosed when he was 3, mentioned my concerns to my health visiter but was told hes fine, but maybe he wont be the best at sports. 6 months later he started nursery and I mentioned my worries to a different health visitor, inside of a week we were told the horrendous news,[over the telephone] with one doctor saying just go and enjoy him.As a family we hit rock bottom with no support how to cope with this horrendous illness. Slowly we have got through it and getting stronger by the day.Gone on to have two more children another boy who doesnt have duchenne and a girl, [stil dont know if she is a carrier].My son is 11now and stil walking with the help of steroids, hes a very happy lovable boy, he just gets on with it.
If the screening went ahead my concerns would be the lack of support at a time when families are going through a very special time, no time is a good time to find out and it should be upto the parents if there child should be tested or not, and be given the correct information and support.
julieRe: Newborn Screening for Duchenne – what do you think?Welcome to the forum Julie.
Thanks your contribution on this subject. We can see you have had a very busy
and difficult time. It is good that you are coping as well as you are. Another person
with a telephone diagnosis ! Our Dr Kristina will not be pleased with that.Lack of support and horrendous illness sum up your feelings.
Since you had this problem eight years ago the MDC have put in place a network
of Regional Care Advisors. These people are specially trained and really can help
at all stages.http://www.muscular-dystrophy.org/how_we_help_you/care_and_support/care_advisors
Welcome to the forum.
"Even if you are not paranoid, it does not mean they are not out to get you!".
Re: Newborn Screening for Duchenne – what do you think?On the 25th the MDC were asking for people’s opinions on this very difficult subject :-
"Even if you are not paranoid, it does not mean they are not out to get you!".
Re: Newborn Screening for Duchenne – what do you think?Hi Julie,
Welcome to the forum. It would be really great if you could take the time to do our survey. We want to find out if newborn screening is something that families want and if it does go ahead we need to make sure that it is done right! The survey takes 10-15 minutes:
If you have any questions, research or otherwise, fire away.
Best wishes,
Kristina.
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