Please help me

Duchenne Muscular Dystrophy
#41

They DO NOT Need to do a biopsy. My son has a poiont mutaiton - also known as a stop codon. PLEASE contact University of Utah and ask for Kevin Flannigan. He will find the point mutaiton from a blood test for FREE. You will join his study and he will send you a blood kit.
if it is a point mutation- that is the drug PTC124 is working on.
If you need information- email me and i will gladley put you in touch with these people.

I can also find info as to who is doing the same sequencing over there.
Let me know if you would like some help.

#42

Try Prof Kate Bushby (email Kate.Bushby@ncl.ac.uk)
Her profile is as follows:
My main interests and expertise lie in the field of inherited neuromuscular diseases and in particular the muscular dystrophies. Work in this area ranges from basic lab science identifying the genes and proteins involved in these disorders, working out their function and effects of their absence to clinical trials. With Professor Volker Straub I am co-ordinating the EU funded Network of Excellence TREAT-NMD which has the aim of accelerating translational research in neuromuscular diseases through the establishment of a durable network of expert centres.
If her team can’t help you, she will point you in the right direction of who can do the gene sequence for you in the UK
:slight_smile: (a blood test is a lot quicker than a muscle biopsy, and a lot less painful.)
Failing that send me your contact details, and I will pass them onto the ANRI (Australian Neuromuscular research Institute) as they were doing the sequencing off saliva samples, and offered to do my nephew who lives in the UK, so I know they can use samples from far and wide :slight_smile: I don’t know if they are still doing them, but I am more than happy to find out for you.
The tests do take a while to do, but you will then know what you are up against.
Keep your chin up, and know we are all thinking of you.

#43

my son is five and was diagnosed with dmd 3 months ago and hes does have a learning dysability,iv been going threw alot of emotions,its very hard for me to deal ,but i know god has a purpose so i go with thant , god bless all.

----- Original Message ----
From: Ruby Cullet dmd-cpt6284@lists.careplace.com
To: sanany31@yahoo.com
Sent: Monday, October 15, 2007 9:31:05 AM
Subject: Re: [dmd] Please help me

#44

Hi. My son was diagnosed at 19 months with DMD. He is 6 1/2 now. Have complete faith in yourself and the mom in you. Wish for only positive things to happen and that’ll keep your son and you happy no matter what his diagnosis or prognosis. It sure is difficult to accept the diagnosis at the very beginning but when we wish only happiness for our children, all our decisions get powered by that will.

Take care.

Anitha

sanany31 dmd-cpt6284@lists.careplace.com wrote:

#45

Hi, my son has DMD he was dx at the age of five he will be nine on dec.26.He
had a hard time in school, staying on task. He could not stay focus long
enough to get his work done, so he fell below grade level. Then I read that your
brain needs dyscrophin to work properly. But because boys with DMD don’t
produce it they act like kids with ADD. Some Boys are dx with ADD then later
they find out it is DMD causing the problems. They can treat the boys with the
same meds they do kids with ADD. My son has been on meds for less then a year,
now he is back on grade level and making A’s and B’s on his report card. in
regular class.

************************************** See what’s new at http://www.aol.com

#46

Hi,
I know its really hard right now. its the hardest when you first find out and you feel as if your entire world has stopped. but its going to be okay. it might not get easier, but you will learn to deal with it. there are a lot of good things too that come along with the diagnosis. it makes you really appreciate life, your children and your family. it makes you realize what your priorities are in life and you will have more compassion, love and patience for the people around you. my son is 6 years old, he was dx two years ago when he was four. he has a hard time in school as well, and is becoming more and more weak. at times i feel as if i am going to break, but we manage to make it through. the hugs, the kisses, love is our strength. i wish you and your family the best, and may you find strength and courage through your son and family.

Mainhia

sanany31 dmd-cpt6284@lists.careplace.com wrote:

#47

Thank you so much for your time in writing me back – I really appreatiate it.

It feels good to talk to someone that is going through exactly what I’m going through. Its very hard on all my family but i have faith that god will help me through this.

Lots of love
Ana

#48

well, keep in touch. we’ll have your family in our prayers.

sanany31 dmd-cpt6284@lists.careplace.com wrote:

#49

i will and, you and your family will also be in my prayers

#50

Well, we finally saw the neurologist this afternoon (after almost 3 moonths of waiting). He had a good look at Sam (now almost 16 months old) and said that were it not for the fact that we are so vigilant with him due to the problems his older brother Callum has then this would probably not hav been picked up at this stage… He was quite honest in that he said that there would not really be any other reason for the CK to be so elevated apart from MD, and specifically DMD or BMD, as limb girdle or other dystrophies would not cause CK elevations of this degree. He took more bloods to repeat CK test and we will get the results of that tomorrow afternoon. He has also scheduled a biopsy for the beginning of January. I feel quite hollow… I am on eggshells now until we get the results of the CK test - it terrifies me to think what it will be this time.

Tracy

#51

I’m so sorry to hear your news. Please don’t get a biopsy. He doesn’t need
one. That is outdated info. They can do a gene sequencing instead. Please
let me recommend someone for you to call.

Best Wishes,
Jill Anne Castle

#52

They had promised to call us today to let us know the results… We sat by the phone all day jumping out of our skin every time it rang and then barking at whoever it was to get off the line… And no word. We left 2 messages with the neurologist’s secretary. William has to work tomorrow so I will be here on my own with the boys all day waiting for the phone to ring…

#53

Yes, I agree. It doesn’t matter at this point if it turns out to be DMD or
BMD, it’s treated the same. My son never had a biopsy, and I’d never agree
to one for him unless it was a requirement for a clinical trial. He had the
genetic test to determine his deletions, it’s a whole lot less invasive.

Good luck!
Brian

#54

My oldest son had dna testing that shows a deletion. He had a biopsy a year and half later to “see what we were dealing with” as one doctor put it. My son wasn’t typical of what they see everyday at the MDA clinic. The biopsy showed adequate amounts of dystrophin despite the dna results. We have been told that is is possible that he has another form of md. Right now we are retesting him. We’ve been told he may have FSH-D instead. We shall see. I wanted to share with you our experience to illustrate that sometimes a biopsy is more beneficial than just a diagnosis based on dna. The doctors are still trying to decide what is going on with our son. His cpks were not extremely elevated like your son’s levels. In fact his last test was only 707. I would urge you to go for the biopsy. It was a HUGE help to our doctors and gave us hope. I wish the best for your family.

Sherri-Lynn Neal
dsneal2000@juno.com

#56

Sam’s CK Levels came back at 2150 - slightly down but not significantly. Muscle biopsy booked for 16 January. Doc says his best guess is becker as he usually sees levels 10000+ in DMD, but he cant say anything for sure till the biopsy. He also found it hard to get Sam’s reflexes the other day so he says there may be something going on with the nerves also.
I guess we can stop kidding ourselves that the first results were a fluke and a terrible mistake:-(

Re the biopsy - his DNA has already been tested for deletions and duplications which apparently accounts for 60-70% of DMD cases but nothing showed so doc says it would be impossible to do any further sequencing without a biopsy to tell them where to look.

Says we will know from the bioppsy within a few days whether its DMD or BMD when they look at the dystrophin levels in the muscle.

Thanks for all your support and prayers
Tracy

#57

We did the sequencing three times and they finally found a stop codon. Kevin
Flannigan in Utah can do the sequence if you want. Good luck with your
decisions. Whatever you do will be the best for your family.

Best Wishes,
Jill Anne Castle