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Duchenne Parents

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Duchenne Parents

Members: 247
Latest Activity: Jul 13

Discussions

Duchenne specialist

Started by Kimberly Damron. Last reply by Claire Diemler Feb 22, 2012. 6 Replies

Becker Studies?

Started by Andrew Kerr Sep 10, 2011. 0 Replies

Nectar T

Started by farhad. Last reply by Jamie M. Jan 26, 2010. 3 Replies

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Comment by Nancy DiDomenico on March 14, 2011 at 4:22pm

Hello,  I am new to the site but not to DMD. My son Vincent was diagnosed in June of 1998 when he was 5. He is 17 right now. He started using a wheelchair when i was almost 13. It was hard at first he couldn't understand why. He is doing well. If anyone would like to chat leave me a message.

Comment by Candace Miller on February 22, 2011 at 8:14pm

Hello Everyone!  I have 2 sons with DMD.  Joseph will be 6 on Thursday and Ethan just turned 1.  Joseph was diagnosed when I was 2 months pregnant with his brother.  Ethan was diagnosed at 2 months old.  It has been a rough the last year and a half but we're surviving!  I am always willing to talk so if you ever need someone to talk to or to just listen feel free to send me a message!

Comment by Perlita & Gordy Hains on February 2, 2011 at 1:57pm
Dental issue - Levi is 4 & went to dentist yesterday and has 2 teeth on both sides ( the same teeth) that are decaying badly.  At his last visit all was ok -  has anyone had dental issues w/ their boys?  Levi is NOT on steroids yet... maybe related to calcium?? Not sure.   The dentist said he's never seen anything like it.  if anyone has ideas let me know??  thx  perlita
Comment by Katherine Blake on December 29, 2010 at 4:40am

Hi everyone -

I am so very glad to have found a group like this.  Just completing our dx and this is a very scary and completing overwhelming time for us.  Our son is 7 and we were taken by surprise by an MD dx.  I do know that it will all work out, and all will be well ...but I have moments of ripping pain/grief knowing that this is a pretty tough journey we have started.  I look forward to listening and talking with you all as we go through this. 

Comment by Shellie Buriak on September 20, 2010 at 12:16pm
We did do full sequencing of dystrophin gene and no mutations found either. The whole gammit is being done. They say he is in the 2% that may never get a actual diagnosis.
Comment by Kristin Linke on August 30, 2010 at 6:45pm
Shelie,
My son was diagnosed with DMD September last year. It took from April-Sept. to get a diagnoses. We did not suspect any muscular disease though. Our son had gone to the endocrinologist to find out his growth hormone level. He had stop growing for a long period of time. Unfortunately through the testing other things came up. He had elevated liver enzymes, which sent us to the GI. The GI ran test, sonograms of the liver, With more blood test came more bad news. He not only had elevated liver enzymes, but his CK levels were in the 13-14,000's. We are now in the care of Doctor Bach at UMDNJ, also with the Muscular Dystrophy Association (MDA). He is one of the top doctors for DMD Patient's. Do not give up, there will be a cure.
Comment by farhad on August 30, 2010 at 1:57pm
Hi Shellie:
Normally if MLPA method does not find deletions/ duplications, it is recommended to go through full sequencing of dystrophin gene that will find out point mutations, or other minor mutations. Bests
Comment by Shellie Buriak on August 30, 2010 at 1:39pm
We just found out my son has DMD as of October last year. He has had his DNA sent many places and because of no known Exon or mutation. A muscle biopsy was done. still no official diagnosis. Very frustrating!!!!! We know it is DMD because of very elevated CK level, enlarged calves and his falling and Gowers manuever to get off floor. Is anybody else living in limbo on figuring out how their son is diagnosed. At this point it probably would not matter due to no cure, but if a clinical trail comes up we will not be able to participate due to no official Exon. Just wondering if anyone is in the same shoes. Take Care!!!!!
Comment by Pooja Gupta on June 5, 2010 at 1:52am
After receiving the shock that my son suffers from Duchenne (recently), it is comforting to be a part of this group. Hope and pray that we can play a role in ensuring a better future for our children
Comment by Ofir Arad on April 7, 2010 at 6:59pm
Hi Kristin, I'm sorry about the diagnosis of your son. My son Eyal (2 years) was fully diagnosed last January. He has a non sense stop mutation at exon 61. We noticed that he used to fall very much but the doctor said that it is not unusual. Then we saw that is liver enzymes were elevated but his liver was OK. The doctor said that maybe he had an infection and his liver enzymes will stabilize by them self. He is so happy and he looks so healthy and strong that we couldn't believe that something can be wrong. Then another doctor suspected that it could be the muscle. One day we had a phone call from his doctor saying that it seems that his liver enzymes were lowering and the day after they that his CK were elevated. The genetic test didn't reveal any mutation, but the doctor said that maybe it was a punctual mutation and we did him a muscle biopsy that revealed the non-sense stop mutation. At the same time we knew that my wife was pregnant. It was very strang because we were very sad because of the diagnosis of our son and happy at the same time for waiting for another baby but we was also very worried about the health of the new baby. It was too early to know the sex of the baby by ultrasound but then we found that ther is a way to know the sex of the baby with a blood test. After the second month of pregnancy there is enough cells of the baby in the blood of the mother and you can search the Y chromosome in the blood of the mother if you find its a boy if not its a girl with 95-98% of probablility. We did this test and in 2 days we knew that we are waiting a girl! I reccommend you to dot this test. I have found this web in english that commercialyse this test http://www.tellmepinkorblue.com/ but maybe you can find somthing better in a lab or an hospital near your home.
 

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