Early Years (diagnois-age 6)

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Early Years (diagnois-age 6)

Members: 174
Latest Activity: May 16, 2018

Discussions

Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

Started by Archana Maringanti. Last reply by Jay Griffin Apr 6, 2016. 1 Reply

Which exons are to be skipped for deletions in exons 46-47 ?

Started by Archana Maringanti. Last reply by Archana Maringanti Mar 29, 2016. 2 Replies

Exon 50 deletion?

Started by Corinne King Mar 5, 2015. 0 Replies

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Comment by Joshua's mom on April 15, 2009 at 11:01am
I was tested first. After I showed negative, they tested my husband because his father had a form of MD before he died and they wanted to make sure it wasn't that instead because it shows some of the same results at birth. He proved negative as well. That's why he was tested. Our geneticist is fabulous and we wouldn't give her up for the world!

Naomi

Naomi
Comment by Ofelia Marin on April 15, 2009 at 10:37am
Naomi,

It is very surprising to me to hear that any doctor involved in the newborn screening or having a basic knowledge about DMD or just having read the basics about this genetic disorder would advice to test your husband for the gene mutation. First, the gene is on the X chromosome which comes from the mother. Boys get the Y chromosome from their fathers, so NOT the chromosome containing the defective gene! Then w/o any connection to your son's DMD, if your husband would have the gene mutation he would have DMD. Who advised you to have your husband tested? I would stay away from those doctors or genetic consultants.

Ofelia
Comment by Joshua's mom on March 10, 2009 at 4:11pm
Hi everyone,
Joshua is 6 now, but he was diagnosed at 6 weeks. In Manitoba, Canada all boys born are tested even if it isn't in the family. My husband and I were both tested and neither one of us had the gene so Joshua was just one of the 6% of the 1 in 3500 who have Duchenne. Now, looking back, we are glad we knew so early, but at the same time we never really were able to "enjoy" his infancy like we did his brother's. We virtually went into mourning.
We were able to start researching, start him on all the supplements, and start taking all the precautionary measures to try to extend his abilities as long as we can. We got him into physio, speech therapy, OT, bedtime boots, start supplements and steroids, start researching and find support networks such as this one. He is only 6 now, but he knows as much about his body as we do. He answers most all the doctors questions himself when it comes to how he's feeling and his symptoms. He can explain to his class what he has and what it does to his body. He talks openly about being in a wheelchair later on. We too collect cans and the whole community contributes. He finds one and says "here's another can for my wheelchair". Our boys are smart and I consider them to be 'old soles'. They've lived many lives and now they chose to see what it is like to live a life like this.

Naomi
Comment by Nicole Chiaramonte on February 24, 2009 at 1:54pm
I see the neur. at St.Joseph which is the MDA in Tampa. I'm not sure if he prescribes deflazacort. But she could call the office. And my son also Dr.Chung in Tampa.
Comment by Leslie Guzman on February 24, 2009 at 12:53pm
Hi Nicole, who is the Doctor you see in Florida? I have a friend that needs a Doctor in Miami that would be OK on prescribing Deflazacort. Do you know of any?

Brenna - My very personal advice is this - I haven't seen any "magic pill" yet. However, I do believe in alternatives that can help and can be a good promise. However, time runs... I would start with steroids and once he is stable try non-harmful alternatives with close monitoring from your doctor.

Leslie

Leslie
Comment by Nicole Chiaramonte on February 24, 2009 at 11:14am
My son is 5 years old. He was dignosed when he was 3. He is on predisone. He has not had any problems with it. We just went back last week to the MDA here in florida and the doctor up the dose to 1 and 1 & a half at night.
Comment by Brenna on January 14, 2009 at 12:00pm
Sawyer was diagnosed in Oct. 08'. We have decided to start our son on steroids. Some of our family members pressure us with magic pills or miracle cures. What should we believe and how should we approach this subject when it comes up? I feel like we are wasting precious time if we give these other things a shot before steroids. Have any of you tried alteratives? PLEASE HELP! There are days when I wish that people would support our ideas and not give us there opinion or suggestion. I'm 100% on the steroid band wagon and my husband is only 50% on it -- this is tearing us appart! Sawyer needs us to be on the same page.
Needing some support- Brenna
Comment by Char Burke on January 11, 2009 at 12:06pm
Hi newly diagnosed parents,
We were diagnosed after being followed by a neurologist here in Seattle, WA for a year. The neuro noticed the gower's maneuver in his office and order a CPK test. He didn't tell us why the CPK and I didn't ask b/c the apt was an hour and I was tired. When I got home though, I looked it up on the internet and freaked out. The test came in at 26k and his nurse called me at work. I asked her what it meant and if it was life threatening and she responded yes. I totally broke down at work and from that point on, it was a nightmare.

The neuro next ordered a gene test - for deletion only. That took many months and came back negative. Next he ordered a sequencing gene test and that was inconclusive....that took 3 months or so. By then, I was beside myself and I had been emailing Pat Furlong. She suggested that I contact Dr. Wong and I did (Cincinnati Children's) and she wasthe one who caught that the neuro did not order the duplication test at the same time as the deletion test. I called him and he said it was done. About a week later, he admitted he was wrong. I and ordered it. By then, I went ahead with the neuro's recommendation of getting a muscle biopsy. We were at an apt. with surgeon's at Children's Seattle and I was explaining to him that we didn't know the outcome of the duplication test when he pulled it up on his laptop. It showed duplication 54-57. I knew from that point on, it was DMD. When we got home the doc. was on vacation and I talked to his back up. What a nightmare....

About the same time, I lost my mother after she had been in the hospital for many months. I felt like my world had imploded. But I have survived and you will too. The good thing is that your son is young and I think there will be some major breakthroughs soon. Not cures - but something to really slow the disease down. Care in getting exponentially better all the time to help our boys live longer. I even found out about a set of twins age 50 with DMD. So, please try and think there is hope. You can leave me messages on my home page here or email me at charlatte2@comcast.net I know it's hard but you will make it....and you will be the best parents for your son....Fondly, Char Burke
p.s. Things to do to help
1- take care of you
2 - don't compare your child to others - Will's develop was much slower with miles stones
3 - learn and do daily stretches yourself
4 - get night boots
5 - think steroids - read Dr. Bigger's articles on results
6 - CoQ10
7 - D3
8 - Protandim
9 - vitamins
10 - get him into therapy swimming
11 - read to him every day - 20 min.or more
12 - get him early developmental intervention care
13 - love him like no tomorrow
14 use PPMD board to help you process this. Consider therapy with good counselor to help you process this. It's big.
15 - fund raise
16 - get yourself good support system
17 get a really, really good doc. - we go to Cincinnati to Dr. Wong....
If I think of more -
Comment by Char Burke on January 11, 2009 at 12:01pm
Hi newly diagnosed parents,
We were diagnosed after being followed by a neurologist here in Seattle, WA for a year. The neuro noticed the gower's maneuver in his office and order a CPK test. He didn't tell us why the CPK and I didn't ask b/c the apt was an hour and I was tired. When I got home though, I looked it up on the internet and freaked out. The test came in at 26k and his nurse called me at work. I asked her what it meant and if it was life threatening and she responded yes. I totally broke down at work and from that point on, it was a nightmare.

The neuro next ordered a gene test - for deletion only. That took many months and came back negative. Next he ordered a sequencing gene test and that was inconclusive....that took 3 months or so. By then, I was beside myself and I had been emailing Pat Furlong. She suggested that I contact Dr. Wong and I did (Cincinnati Children's) and she wasthe one who caught that the neuro did not order the duplication test at the same time as the deletion test. I called him and he said it was done. About a week later, he admitted he was wrong. I and ordered it. By then, I went ahead with the neuro's recommendation of getting a muscle biopsy. We were at an apt. with surgeon's at Children's Seattle and I was explaining to him that we didn't know the outcome of the duplication test when he pulled it up on his laptop. It showed duplication 54-57. I knew from that point on, it was DMD. When we got home the doc. was on vacation and I talked to his back up. What a nightmare....

About the same time, I lost my mother after she had been in the hospital for many months. I felt like my world had imploded. But I have survived and you will too. The good thing is that your son is young and I think there will be some major breakthroughs soon. Not cures - but something to really slow the disease down. Care in getting exponentially better all the time to help our boys live longer. I even found out about a set of twins age 50 with DMD. So, please try and think there is hope. You can leave me messages on my home page here or email me at charlatte2@comcast.net I know it's hard but you will make it....and you will be the best parents for your son....Fondly, Char Burke
Comment by Char Burke on January 11, 2009 at 11:59am
Hi newly diagnosed parents,
We were diagnosed after being followed by a neurologist here in Seattle, WA for a year. The neuro noticed the gower's maneuver in his office and order a CPK test. He didn't tell us why the CPK and I didn't ask b/c the apt was an hour and I was tired. When I got home though, I looked it up on the internet and freaked out. The test came in at 26k and his nurse called me at work. I asked her what it meant and if it was life threatening and she responded yes. I totally broke down at work and from that point on, it was a nightmare.

The neuro next ordered a gene test - for deletion only. That took many months and came back negative. Next he ordered a sequencing gene test and that was inconclusive....that took 3 months or so. By then, I was beside myself and I had been emailing Pat Furlong. She suggested that I contact Dr. Wong and I did (Cincinnati Children's) and she wasthe one who caught that the neuro did not order the duplication test at the same time as the deletion test. I called him and he said it was done. About a week later, he admitted he was wrong. I and ordered it. By then, I went ahead with the neuro's recommendation of getting a muscle biopsy. We were at an apt. with surgeon's at Children's Seattle and I was explaining to him that we didn't know the outcome of the duplication test when he pulled it up on his laptop. It showed duplication 54-57. I knew from that point on, it was DMD. When we got home the doc. was on vacation and I talked to his back up. What a nightmare....

About the same time, I lost my mother after she had been in the hospital for many months. I felt like my world had imploded. But I have survived and you will too. The good thing is that your son is young and I think there will be some major breakthroughs soon. Not cures - but something to really slow the disease down. Care in getting exponentially better all the time to help our boys live longer. I even found out about a set of twins age 50 with DMD. So, please try and think there is hope. You can leave me messages on my home page here or email me at charlatte2@comcast.net I know it's hard but you will make it....and you will be the best parents for your son....Fondly, Char Burke
 

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