Hello everyone! . I am joining this group because I am so scared my son has one of the MD's. Let's just say I feel as if I am waiting for the other shoe to drop. Keaten born in March of '06. Got fi…
Hello everyone! . I am joining this group because I am so scared my son has one of the MD's.
Let's just say I feel as if I am waiting for the other shoe to drop.
Keaten born in March of '06. Got first shots in May, then spent the next 21 days in Oakland Children Hospital, almost died, blood transfusions, spinal taps, CT, x-rays, the whole 9, at only 8 weeks old. (they say was not a vaccine reaction, but we're not sure)
After that, his liver reads were totally out of whack, for months. So we did all of the hep tests, because of the blood transfusions. all clear.
Then finally at 1 1/2 he had a liver biopsy, all clear.
During this time they noticed his CK was elevated (and stayed elevated) for months and because there were other pressing issues with him, like 6 months of GERD! and the liver stuff and they skated around the MD issue, but talked about it in hush tones, you know doctors they get so specialized and wont go outside their comfort zone.
Anyway, he is almost 3, and still gets so exhausted. He sleeps through the night 8:30 pm- 6am and still everyday takes a 4 hour nap. If he misses his nap the next day he is toast, and sleeps all day.
I have told docs at Stanford about this and they joked if only they could sleep so much.
Of course with the MD, in the air I have read about it.
It is hard not to see things that make me worry. Like the extreme fatigue after activity and just in general.
Walks on his toes, a lot. His calf muscles do not feel like his sisters, kind of rubbery and when he is really tired he sleeps with his eyes open.
He always goes up steps left foot first one at a time, still cant get the two foot gait down.
He also crashes a lot, always saying... "I okay Mommy"
I guess I joined just to talk to other moms about their experiences. I wrote the MDA group that is in Modesto,Ca (close to us.) and the lady said they were ready to see him at UC DAVIS, whenever. She said she had sent his info along to the docs there and they said to bring him in.
But I am nervous. Another doc said time will only tell. He really has been such a pin cushion for so long, My husband and I decided it was time to just enjoy him for awhile without stressing out.
(I don't tell him how worried I am, but I know he knows)
argh. He also keeps having an elevated body temp. That stays at 99-101, but I am told not to worry.
Thanks for listening. I would love to hear others early experiences with MD.
I really feel like I need to talk.
Deirdre
Let's just say I feel as if I am waiting for the other shoe to drop.
Keaten born in March of '06. Got first shots in May, then spent the next 21 days in Oakland Children Hospital, almost died, blood transfusions, spinal taps, CT, x-rays, the whole 9, at only 8 weeks old. (they say was not a vaccine reaction, but we're not sure)
After that, his liver reads were totally out of whack, for months. So we did all of the hep tests, because of the blood transfusions. all clear.
Then finally at 1 1/2 he had a liver biopsy, all clear.
During this time they noticed his CK was elevated (and stayed elevated) for months and because there were other pressing issues with him, like 6 months of GERD! and the liver stuff and they skated around the MD issue, but talked about it in hush tones, you know doctors they get so specialized and wont go outside their comfort zone.
Anyway, he is almost 3, and still gets so exhausted. He sleeps through the night 8:30 pm- 6am and still everyday takes a 4 hour nap. If he misses his nap the next day he is toast, and sleeps all day.
I have told docs at Stanford about this and they joked if only they could sleep so much.
Of course with the MD, in the air I have read about it.
It is hard not to see things that make me worry. Like the extreme fatigue after activity and just in general.
Walks on his toes, a lot. His calf muscles do not feel like his sisters, kind of rubbery and when he is really tired he sleeps with his eyes open.
He always goes up steps left foot first one at a time, still cant get the two foot gait down.
He also crashes a lot, always saying... "I okay Mommy"
I guess I joined just to talk to other moms about their experiences. I wrote the MDA group that is in Modesto,Ca (close to us.) and the lady said they were ready to see him at UC DAVIS, whenever. She said she had sent his info along to the docs there and they said to bring him in.
But I am nervous. Another doc said time will only tell. He really has been such a pin cushion for so long, My husband and I decided it was time to just enjoy him for awhile without stressing out.
(I don't tell him how worried I am, but I know he knows)
argh. He also keeps having an elevated body temp. That stays at 99-101, but I am told not to worry.
Thanks for listening. I would love to hear others early experiences with MD.
I really feel like I need to talk.
Deirdre
Comment
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Comment by Char Burke on March 13, 2009 at 12:05am
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Hi Diedre,
I am wondering if you have had any more tests or have received any more info. With DMD you will see CPK levels at ten times where they should be. For i.e., my CPK may be 100 and when Will's was diagnosed, it was 26,000. Often times, the more mild form of DMD, called BMD, the CPK is usually about in the 1k range...but not always. There is a type of Limb Girdle MD that mimics DMD and there are other MD's as well. I think DMD is very common compared to some of the other MD's. You could look at symptoms on MDA web site.
One thing I did want to pass on to you is the genetic testing. If they do test for DMD, the test for mutations should include both a deletion and a duplication at the same time. If you can imagine that the dystrophin gene is like a large elongated rubber band. With in that area are millions of amino acids that are set up in a very specific order; c,t,g a. The order is of these are very important and there are complex steps that each area makes - like a production assembly line. The end product is dystrophin which acts like an shock absorber or anchor to the muscle cells. Without the anchor, the muscles cells leak calcium and cpk enzyme. The genetics refer to the genetic error as duplications, deletions, point mutations, stop condons, introns, etc. The dystrophin gene is 79 exons long but I have read in Dr Chamberlain's book that the exon is actually 85 exons long. Anyway, the area that the error is in - many believe - can determine specific things about the disease. For i.e., it was recently discovered that duplications at the beginning of the gene are not as severe and maybe more BMD like.
The second genetic test would be the sequencing test to look to see if the amino acids are out of order. This test more time b/c of the labor intensive process that they go through.
Because of the genetic blood testing that they have now, you most likely won't have to have a muscle biopsy done.
Another thing you could do is look into your family tree. DMD is passed down from the 'X' chromosome so it possibly could run in your family....passed down from the mother's side. But, it can also be spontaneous as well....
This is a great web site if you need support. Just reach out. Hope your son does not have DMD.
Char Burke
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Comment by Deirdre on February 17, 2009 at 10:18am
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Thank You so much everyone!
He is seeing several doctors in March for his 3rd bday checkup. I am also having him assessed for all of his motor skills, fine/gross/ language dev and such. I will be discussing futher testing and follow-ups to his wacky CK levels as well as his liver reads. Plus his fatigue, and sleeping with eyes open.
Believe me I am not delaying on his health for long. I call this the holding pattern where I am enjoying him.
He walked at about 13 months and moves well now, but he still cannot alternate feet going up stairs. Left foot first (always) and then right foot on same step, then left foot up on next, then right foot on same step, and so on. On the way down he butt scoots most of the time, if he stands you can tell it is not a fluid motion, and always has to hold the hand rail up or down. This and the tiptoeing and crashing he does makes me curious.
He turns three on 3/22 so I will be vigilant at his next doctors and will bring up all of my concerns.
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I recall sending all my son's symptoms to Pat Furlong and it was like a bullet point sheet of DMD. I am wondering when your son has begun walking or if he has yet. Our son was a very late walker and that's one of the signs....I think delayed mile stones are common....The CPK is another key to MD. I recall our son was very weak and had poor balance as well....Some of the best care is in Cincinnati, OH with Dr. Wong. There is also the Uni of Utah with Kevin Flannigan....Good luck and keep us posted on how he is doing. He is a great little guy - and we pray it's not MD. Char Burke
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Comment by Julio Chojeda Torres on February 10, 2009 at 11:29am
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Hi Diedre
Certainly your son knows that you are worried. Only help him do things he can not do by himself but let him do all things he can do by himself. My mother did this when I was a child and I am still fighting agains my condition and working to cover my basic needs.
Julio Chojeda Torres
Striving to reach 2015
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Thank Kim! I know I am just prolonging my stress, by waiting on taking him to UC Davis. But he really just needs to be a kid right now, does that make any sense??
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Comment by Laurie Barton on February 6, 2009 at 9:45pm
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Hi Dierdre,
The anticipation is a killer sometimes; it seems like we spend a lot of time waiting for the other shoe to drop. We got my older son's diagnosis at age 4 when my younger son was 9 months old; I decided to wait for testing. I still felt like the other shoe was hanging over my head, though. It really didn't go away. My son's are older; if we had then what's available now for our boys, I wouldn't have waited.
Sounds like Keaten is not really stable right now. It seems like that's the most important thing to resolve right now. (I hope that advice is OK with you.)
It's also amazing how kids sense our anxiety. I could feel my anxiety level jump about a month before each clinic visit; then, I immediately started to relax. I also planned some kind of "field trip" after each clinic visit...to the park, to the merry-go-round, ice cream...not a bribe, but something for all of us to look forward to...to end the day with something that was more relaxing. Yes, relaxing for me, too. It helped.
Take care,
Laurie
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Comment by Kim Maddux on February 6, 2009 at 5:41pm
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Hi - I live in the San Ramon area...not sure how far you live from me. Anyway my son Alex was diagnosed 4 years ago at age 4. We went to Stanford first (I will never go there again). The bedside manner was horrible. We actually take our son to Cincinnati Children's Hospital... as many families do on this group. I have heard good things about US Davis. I do think you need a confirmed diagnosis so you can get propery therapy/treatment for him. A DNA/blood test will confirm. My son does not get tired like yours, never took long naps, etc. Not sure what's that all about. It is very scary but this website has great advice and support. Please use as needed. If you want to chat over the phone, let me know. My home email is kim@manda.net if you want to email me your phone #.
I know it's overwhelming. Get informed and take it one day at a time. Take care. Kim
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He has already passed out this morning so, pic later of legs. He is just always so darn tired!
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They were never, in the upper thousands like what I have read about, buthigher than they should be. The reads were never taken when he was first sick, and I have read that the CK numbers can change?
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Comment by Angela on February 6, 2009 at 1:56pm
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What was the number on your son's CK levels? I think you would feel better if you took the trip to US Davis and either confirmed & started treatment or eleminated this option. This sounds crazy, but you might take a picture of his calves to share. . .
Good luck!! I know this is a very tough time!
Ang :)
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