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surprised by genetics testing
Hi,
I’m new here and I am just looking to see if anyone else has had a similar experience. My son will be three next month. We had genetics testing done because of totally unrelated issues. He has been in OT and early intervention for sensory issues and problems with gross/fine motor, etc. They wanted to see if he was on the autism spectrum. There were some issues with that chromosome, but it also came up abnormal on the DMD gene…and I am blown away by this as there is no family history of MD. So now he has an appointment at to find out if he has Duchene’s or Becker. They will also be testing me to see if i carry it (because i also have another son 6 months) or to find out if my son just had a weird mutation.
I feel totally confused and I don’t know what to expect. He did meet all of his physical milestones within the normal range but on the later end. He is a toe walker and was often falling, but they chalked that up to neurological problems. Now i don’t know what to expect. He seems to physically healthy and strong. Is it possible for him to have MD but never have symptoms of it? Or should we prepare ourselves that his life will be altered in some ways the disease?
Have any of you discovered a loved one had MD by accident? Any info would be helpful. Thank you very much.
Re: surprised by genetics testingHello
I have limb girdle MD and there is no one else in my family that has or is a carry of any MD gene, the thinking is that maybe in my case it was some weird mutation (lucky me….lol!!!).
Re: surprised by genetics testingWelcome to the forum.
Thanks for posting. We are sorry that you are worried and confused.
It does sound that you are in touch with the right people and they are taking all the right steps. To
try and answer your question, anything is possible. MD encompasses a bewildering number of rare, complex
and very variable conditions. We were amazed when someone told us there were 64 different types. Even
within the more well known phenotypes there is considerable variation. It is possible for symptoms appear at
any time or the rate of progression to alter markedly. There is a lot of work being done in the field of genetics and
testing.It sounds very good that your son is as strong and healthy as he is. Whatever the news they give you the one
thing we are sure of is that the help and support has improved immensely in the last few years. Feel free to ask
whatever questions you need. We do have some members with Beckers."Even if you are not paranoid, it does not mean they are not out to get you!".
Re: surprised by genetics testingI too am a spasmodic mutation for the FSHMD gene, no history in my (large) extended families, I am the unique one!
It maybe (and this us just my uninformed personal opinion here) that it may not be Duchenne or Becker but one of the other myriad of MDs that there are, but those are the names your medical texans gave become aware of.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: surprised by genetics testingHi. My son got diagnosed with muscular dystrophy 3 weeks ago accidently.
when my son turned two he was behind in his delevopment and had many autistic traits. My health visitor refered us to a pedatrician.
After a few assesments he ruled out autism. I then voiced my concerns on my sons short stature. Because me and his dad are very tall. the doctor sent us off for some blood tests one which checked his chromasome. This test came back showing an abnomality in hos x chromasome.
Further tests were made and i got called to see a genetic councilor. I also had my bloods taken.
then we got a phonecall asking to go see genetic councilors at the gebetic science ward at Manchester where we were told my son had a muscular dystrophy. Which was a huge shock! Then 4 days later had an appointment with the neuromuscular specialists who explained it more further and did more assessments to try to diagnose which condition. Ive now been left being told they are yet unsure which but he has the more severe one either becker or duchenne.
then this week got my results back and found out i am a carrier of this gene. But there are no family history of it. So i know how you feel with the whole shock of the diagnosis.Re: surprised by genetics testingAlso my son seems very healthy and like any other 3 year old. He has trouble jumping and running but i never ever imagined it to be MD id never heard of it before. Thats the initial shock is that your child seems ‘normal’ and healthy. Its heart braking. Im only on week 3 and it still hasnt sunk in. I know what you are going through. You will get given a neuromuscular specialist who will explain more. Just ask them everything you need to know x
Re: surprised by genetics testingHello Hannah
Thank you so much for posting. The shock of a sudden condition showing up is awful, I am a ‘non-inherited’ MD-er, no history anywhere but I have FSH.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: surprised by genetics testingHi everyone,
I just wanted to give an update. We just had our appointment at Children’s Hospital. They tested his blood (CPK test). They told me normal range is 175 and his was over 2000. Now they are telling me he needs a muscle biopsy. I’m freaked out about the thought of my 3 year old being put under and having muscle removed (I know it’s just with a small hollow needle, but still). They still haven’t told me if it is DMD or BMD, but they told me it is definitely one of the two. So I guess the muscle biopsy will give me more definitive answers. I just feel awful for him because he is already in preschool on an IEP, he gets OT for sensory issues, he had autistic like behaviors but he does not have autism, and now this. So now he will be seeing more doctors on top of all the ones he already sees and we are still waiting on a behaviorist so we can help him at home. I’m really just trying to breathe and take it one day at a time, but this is so much to process right now.
Re: surprised by genetics testingI know it is asking the impossible, but try not to worry about things ahead, enjoy the now. I can appreciate the terror of a biopsy but everything will be fine and he will soon forget any discomfort.
You are correct, there is a lot to process with information coming from every angle.
Thanks for coming back to update us.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: surprised by genetics testingThey dont know if my 3 year old had DMD or BMD.
they are putting off a muscle biopsy. And hes being seen again in September.
Least you are going to know the full diagnosis. The waiting is hard.
Also boys with DMD have behavoural problems such as autism and ADD or ADHD. But mild. So ive been told.
have you had your genetic test done? I found out im a carrier
Such a shame its put me off having anymore.
Go though so many emotions. Its hard! Especially when you feel alone with no one knowing what you are going through.Re: surprised by genetics testingHannah,
Sounds like we are in the same boat. Our storu is so similar! They tested me as well and I came back as a carrier also. I am so upset about this because no one in my family has ever had MD, so I never thought about genetic testing before I was pregnant or during my pregnancy.And obviously I love my son so I have no regrets, I just feel awful that he has this. I am also stressed because I have another son aged 8 months and I know they will want to test him as well, but I’m just not ready for that. I need to just see this through first before I start even dealing with the possibility that my other son could have this as well. And it is so hard because I come from a VERY small family. My sons are all they have….no other cousins. We thought about having more, but now we feel it would be irresponsible to do so now that we know what might happen. Plus depending on if it turns out to be DMD or BMD, we don’t know what this going to mean financially in terms of care, so we want to make sure that we are giving him all of our support and resources, so we probably shouldn’t have any more kids. I’d just hard when that choice is taken away from you like this. We are also struggling because besides my family, other people in my life are not being very supportive. My two best friends from college that I’ve known for 10 years have seen to vanished since I told them and I’m shocked because they also have young kids. We are doing to the Muscle Walk in MA in June, so we are registering with the MDA and hoping to meet other families that we can connect with.
Re: surprised by genetics testingHi.
add me to face book Hannah Mount Burnley then can talk better, if you want.
Yeah similar stories. No body in my family have had MD either. My mum got tested a month ago to see if she has it cause if she has then 50/50 chance my sisters do and 50/50 their kids could carry it/have it.
Genetic councilor told me if you get pregnant you tell them and there is a test ypu can do at 9 weeks to find out the sex of the baby. If it is a boy there is another test to see if the boy also has DMD OR BMD.
I really hope that your youngest son hasnt got it.
that it really shitty that your friends have done that. Maybe they dont know what to say. But my friends have children same ages and they have all been surportive.
Its hard to except it isnt it cause to me my sons a normal 3 year old.
You do what you want to and dont rush into testing your youngest. Its a lot to take in as it is.
I think its good to talk to people going through it cause nobody understands.Re: surprised by genetics testingHannah,
I will add you today. Be on the look out for a friend request from Amy.
I also wanted to let you know that I contacted my insurance company to find out if they cover PGD/IVF. The rep I talked to was so rude to me. A simple yes or no answer would have sufficed, but he gave me an attitude and said, “now you’re talking about blonde hair, blue eyes and we won’t cover getting selective.” I’m not trying to create a designer baby, in fact, I don’t even know if I want anymore kids, but I just wanted to have my facts. I ended up reporting him to a supervisor.
I have also designed to fight for the rights of other women. If insurance covers abortions and IVF for infertile couples, then I feel it is only fair to cover couples who want children but know they have potentially life altering or fatal genetic diseases that they don’t feel comfortable passing on to e a potential child. I reached out to my state senator who is trying to pass a bill on this asking how I can help. If my family and I are going to deal with this situation, I feel it is important to try to bring about something positive that we can do to help others. At least that will make me feel a little better.
Re: surprised by genetics testingMy 3 year old has muscle weakness and motor delays and they are considering testing him for muscular dystrophies with a muscle biopsy. What was the biopsy procedure like? Which muscle? Was the child uncomfortable afterwards? I’m fairly scared about it.
Re: surprised by genetics testingHi Hanniel,
I am still waiting for a consult with the neuromuscular clinic to schedule the muscle biopsy, so I can’t attest to it yet. A friend of my had to have a muscle biopsy done on her son when he was an infant because he was born with “floppy baby syndrome” a form of CP. They do have to put them under anesthesia and they use a very thin needle. I have been told that it is not a painful procedure. I am also nervous about this as well. I will post about how it went once he has it done.
Re: surprised by genetics testingHi Amy.
Have you spoken to a geneticist?
I have been told that if i decided to have children you can have a test at 7 weeks to find out the sex and if its a boy you can have future tests to find out if the boy has the same condition.
also my son hasnt had a biopsy. They are unsure whether its duchenne or becker.
but i know there are complications with ansthetics for people with muscular dystropy so thats why they are waiting to see if he shows more symptoms before they do a biopsy.
I didnt get a request Amy. X
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