Your sister should probably be tested. there is a possibility you aren’t a carrier. About 1/3 of the boys with DMD are born from a spontaneous mutation (menaing it’s not on your gene). there is also a chance that it is not on your gene but you carry the mutation in your eggs. this is called germanic mosasism (sp is wrong).
Your son will walk, maybe just late. My son walked one week before his 2nd birthday.
You won’t really know until you get tested yourself. It’s possible that
it’s a spontanious mutation which occurs to a single egg, you won’t know for
sure unless you get the genetic test.
-----Original Message-----
From: tracym [mailto:dmd-cpt6284@lists.careplace.com]
Sent: Sunday, October 14, 2007 12:43 PM
To: bkwolf@sbcglobal.net
Subject: Re: [dmd] Please help me
I think that it is common for kids who are MR or other learning disabilities to have issues with walking (possibly running and jumping). I was frustrated with my sister because she didn’t insist on my nephew getting tested and toewalking. His pediatrician (who later worked with my sons) may not have realized how late my son was dx and said that the toewalking was related to LD. I don’t think they ever gave a specific dx so all I know is LD. I do also know that it is common for young men with DMD to have Autism but not all boys do. I also realize each time I say boys that although it is rare, girls have been dx with it.
All 3 of my sons had elevated CK and my oldest son had a deletion annalysis done to determine which form of MD he had.
I have 3 sons as you mentioned. Nathan is now 20, Christian is 11 and my son Alex turned 16 on March 29 and died 4 days later on April 2. Thank-you for your compliments. I do very well much of the time and so so much of the time and sometimes, I feel like saying, ok, joke over… give my son back!!!. It can be hard cause the world doesn’t stop just because you loose your child. My son Nathan had a birthday September 1, the sunday before that my cousin died from cancer and the week before that my 16 year old nephew died from side affects of cancer that they had just dx a week or two before his death. His cancer, Non Hodkins Lympoma is treatable but he had developed pnemonia and other issues so they couldn’t save him. Today I held my neices 2 week old baby and he is so sweet, I dearly hope he does not also have DMD. I hope that my sister wasn’t a carrier.
Terri
My son, Ethan, has Autism and DMD. We thought his “clumsiness” was
due only to the Autism, but bloodwork showed us the presence of DMD. I
just read an article about the increased likelihood of having both of
these issues together. In a way, his Autism helps combat the DMD
because he’s so active and rarely sits down. This keeps his heel cord
stretched.
Terri, I’m so sorry for your loss. I’m sure I’ll be looking to
brave people like you for support in the future. Linda
Quoting BlueAngel dmd-cpt6284@lists.careplace.com:
DMD is only a physical disability. Sometimes there can be learning disabilities and some behavior problems but not always and usually it is minor or a medication side effect. I feel that some of that could be expected because of the frustration these boys face. My husband (31, DMD) gets frustrated often over things he cannot do on his own and since I too am disabled (but not as severely as I was as a child) I can understand his frustration more than someone who has not experienced having a disability. My disablility Elhers Danlos is rare and still my diagnosis is not totally figured because there is also Stickler's Syndrome and a bunch of other disorders similar and also rare so I consider the diagnosis of Elhers Danlos at birth and now 26 as what I have. To me diagnosis isnt what matters it is all about the individual and what they are capable of. There are a wide
variety of disabilities out there some are rare so you shouldnt jump to conclusions until you have a firm diagnoses. Give your sons a fair chance because they may be capable of more than anybody including their doctors think. I am sure that both of your sons have strengths and weaknesses like any other child, dont ever look at them as unlucky God has a purpose for all of us.
From: tracym
Reply-To: tracym
To: bobertacollins@hotmail.com
Subject: Re: [dmd] Please help me
Date: Sat, 13 Oct 2007 17:00:44 -0400
>
My son has Autism w/DMD. I read a report this year by Dr. Hinton coorelating the two in somewhere around 30% of the boys ( I can’t remember the exact number).
My son was very autistic like when he was younger but the autistic interventions really help. We’ve done floortime and had huge success with his social skills and communication. We have also taken alot of training in behavior. He’s been so much happier and social. I used to think we were the only ones that got hit with a double wammy but now I see that it seems to be a part of the DMD for many. there is speculation that it depends which part of the gene the mutation is on as to how the boys are cognitively (anthony’s is at the very end). But there’s no proof of that yet.
My son has always toewalked so I know it’s not all due to the DMD. We just stretch him every night and he wears the night splints. Sionce I can still get his heel cords to 90%, I believe he’s toe walking for sensory needs rather than inflexibility.
Terri, I’m so sorry for your loss. I can’t imagine what that must be like. Does your 20 year old have DMD? How is he doing?
DMD is carried by females or is the result of a rare & spontaneous mutation.
I didnt realize that there was a link with autism and DMD so that could also be a possibility. Just make sure you dont make any assumptions until a reasonable diagnosis is made.
Terri,
sometimes it seems like life is a truly cruel joke. I only wish us all a day where the punchline actually makes us laugh. Here’s wishing you and yours good health and happiness and a life well-lived (no matter how long).
Rebecca
Amen Ruby! God does have a purpose for us all. I am 31 with DMD and just published my third novel. Some of the most special people have physical and/or mental disabilities. The world says these kind of people have no place in society, but God says the opposite.
I’m glad that you related this, it is always better coming from someone who actually has the experience. DMD has affected all 3 of my sons. I worry about the TMI factor (Too much information) but here goes,
Nathan (20) is doing well, and of course people who are not going through this may associate doing well with “nothing’s wrong” but I mean that he has no issues with breathing, he can still feed himself although he needs help with cereal sometimes, he doesn’t have problems swallowing except really dry food, he has us set his drinks on the counter so he can drive up get a drink and go about his buisness (he can’t raise a glass), he opts to use the onscreen keyboard instead of a regular one and he can play with his game controls. He needs to be transfered, repositioned, dressed, etc.
Christian (11) needs transfered, dressed etc although he does help a bit. He is starting to have issues raising up his arms so I help him. Once we get him on the toilet he can handle those needs himself. He can use the computer and feed himself.
Terri
-------------- Original message --------------
From: Doggypark dmd-cpt6284@lists.careplace.com
For everyone debating the Autism/DMD issue:
There has been much discussion in Australia regarding dystrophyin and brain function. Certain doctors have different views on whether there are cognitive impairments in boys with Duchenne. We as mums have noted that whilst only 30% of boys are recognised as having a low IQ/suspected autistic tendancies, the other 70% are often affected in different ways.
Our son has a “normal” IQ, but he has a form of Central Auditory Processing Disorder (CAPD). This also affects his short term memory. Other boys are being found to have ADHD or dyslexia (amongst other things.)
Most of the DMD boys we know have some sort of “quirk” when it comes to information processing, however like our son, they have a perfectly normal IQ. We had our son tested, and with the results a new teaching strategy was implemented to accommodate his memory/data processing problems. He came along in leaps and bounds once this was done.
There is a great article on google regarding the role of dystrophin in the central nervous system, it can be found at:
If you are in doubt, print the article off, and take it to your next specialist appointment, so you can discuss it with them. Our doctor is quite used to me bringing in articles and discussing their relevance to our son.
Specialists in neurological conditions know Duchenne - you know your son - and if your gut is telling you something is wrong - follow your instincts. Never be afraid that you will look like a fool if what you are querying turns out to have no connection to your sons condition - as quite often the less common symptoms do get over looked.
And for tracym, I know that right now it feels like the bottom has fallen out of your universe, but hang in there. I can remember when we were in limbo (the time between suspected DMD and confirmed diagnosis) I would cry and pray, and hate the world for what was happening to us.
Once we had the diagnosis, we realised that we had to focus now on diet, medications - anything to improve our little ones quality of life. For the first year the condition was all consuming, but we actually have days now when I forget (if that is the right word) that my son has DMD. (and considering he is in an electric wheelchair that is pretty significant). The fact is that while our life is different to how we had planned, he is still our son. He can be an absolute sod sometimes, and other times butter would not melt in his mouth.
Enjoy the journey and make every memory a good one. It may not feel like it now but laughter will enter your life again, and you will find a strength in you that you never knew you possessed.
Duchenne is not an ending - it’s a beginning - to a journey that will teach you more about the power of human spirit than most parents ever have the honour of learning.
Happy gilmore,
I am so excited about your entry. First off, the last sentence that you wrote was brilliant and will probably stick with me forever. I also printed up the article and will read it shortly. My son, as I said, has autistic spectrum tendencies as well as ADHD. He also has auditory processing issues. For so long, professionals tried to say he was mentally retarded and when I finally got them to do non-vebal testing his scores mostly fell in the typical range with a few specific deficits. I am VERY interested in any information you have regarding learning. I would like to hear all about the methodology you are using. Jos Hendrickson has done studies relating the way our kiddos learn to dyslexia but i really need help with how to apply that.
Any information you have will be greatly appreciated!!!
We just had our appointment with genetics. They have Sam’s blood DNA and are starting the first swathe of tests tomorrow. They said that would take about 2-3 weeks and if that doesn’t show it up they then send it to London, to Guys Hospital for them to strip it down to the next level. She says for it to have shown so early, for him to have obvious muscle weakness, also the way he sticks his bum out (?) when he is on his feet plus the fact that there have been no boys on the maternal side for the past 3 generations all point to DMD. I have just held him as he fell asleep. He is so innocent. This is just too awful to believe. Please God don’t let this happen. I feel so powerless and helpless. I can’t kiss him better.
Tracy, you are obviously a very good mama. No matter what they tell you is the diagnosis, just keep holding him tight. I’m crossing my fingers for you both and, as Milo repeats to himself when a movie gets too scary, ‘I’m thinking good thoughts, I’m thinking good thoughts’ . . .
Rebecca
I’m sorry if you’ve already said, but have they done a CK level first? That can give them an answer in only a few days BEFORE they go through the longer tests or even while you are waiting.
They did ck last thursday and came back to me within 2 hours to say the levels were over 3000. Apparently they dont have a huge amount of data on what the ck levels would be in DMD at 14 months as its usually not diagnosed until later, but the high ck combined with his existing muscle weakness (cant lift head off floor when on tummy, cant do baby push up, cant get from lying to sitting, cant pull to stand, no standing balance, very weak arms, etc) makes them think DMD. I suppose while we are waiting that means there is still hope, but the genetics doc seemed very bleak about the outcome.
I received the letter telling me my oldest son MIGHT have DMD the same day I found out that I was pregnant with my youngest son. By the time he was born I had received a dx on both of my older sons. As a result my son was dx by the time he was 1 month old. His ck results were around 14,000. Are they going to do a blood test to determine which form he may have? They used blood tests for the deletion annylysis but by this time they may have other blood tests they can do.
Terri
http://news.bbc.co.uk/1/hi/health/7052453.stm
I dont know if this was reported in the US - its about a trial they are starting in the UK…
Tracy x
Just to update you on Sam…
We got word from the genetics doc the other day - by letter, not by phone (I had been jumping our of my skin and feeling sick every day waiting for them to ring). Apparently they have tested Sam’s dystrophin gene for point deletions and duplications (??) which would be easy for them to see as it would make the genetic code shorter or longer… Apparently this is the case on 60-70% of DMD. His gene did not have these, so they said that there are 2 possibilities - 1. he may have DMD caused by a point mutation (which they said would be like looking for a needle in a haystack) or 2. It is s different sort of MD.
They now need to a biopsy, to tell them what further DNA testing they need to do (they will then send it to Guys in London as they dont have the lab equiplent for this in Belfast).
This means that we are on a waiting list to see the only (!!!) paediatric neurologist in NI, and even though we have been graded urgent it will be January before he can see us for a consultation, then God knows how long til they schedule the biopsy, the 2 weeks to wait for the results of that and then however long for whatever DNA tests Guys have to do.
So it looks like we will still be in this awful limbo til bloody Easter next year. I have been on the phone all week with doctors and their gatekeepers (secretaries who think they are God) - I am getting nowhere. I know that this waiting does not change what the outcome will be, and I know we are doing everything we can (physio etc) but my head is totally pickled. Any ideas?
Tracy