Alicia's Comments

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At 2:02pm on July 31, 2009, Windy Jackerson said…
Hi all. My son was diagnosed this past September with DMD but now we are not so sure. He did not have any del/dup but had a point mutation at splice site exon 50. I registered with Duchenne connect and spoke to a counselor there who told me that it would be hard to diagnose my son at this point with DMD but possibly it could be BMD, but time would tell. He has not had a muscle biopsy. I was told it was not necessary since his DNA testing came back positive in the sequencing. This all so confusing to us. She also told me that a child who has del/dup would 100% of the time have DMD. Can anyone shed some light into this. He had developmental delays early on and his CPK was 18,000 when it was first checked. He never crawled and started walking at 18months. He will 3 in March. He has gained strength but is still weak getting up from the floor. He is not using the gowers movement. He does not have any learning disabilities, he is quite intelligent! I also had DNA testing and I am not a carrier. If anyone's son was diagnosed with Becker, can you please contact me so we can talk. We just really need answers. We have not taken him to the MDA clinic as of yet but are planning to very soon. We live outside of Orlando, Fl. Any help would be appreciated. Thanks and God Bless!!
At 11:00am on April 5, 2009, Jill Keenan said…
Hi Alicia! Just wanted to see how things are going for you all? How is Deacon doing on the steroids? Hope he adjusted well and that you aren't seeing too many side effects! I'm soooo sorry to hear that the dx was changed!!!!!! That must have been quite a blow!!! At least you can know that Dr. Wong will take such good care of your son! If you would have stayed where you were, Deacon would not have been given the chance to start steroids so early, if at all!! And you wouldn't have the correct diagnosis!
Take care and hang in there!
Jill
At 5:39pm on January 13, 2009, Vicky Williamson said…
Alicia, Trempealeau is about 20 miles north of La Crosse so we probably live about 125 miles away from Wisconsin Rapids. That would be quite a trek for a bake sale. Thank you for offering! Vicky
At 1:48pm on October 20, 2008, donna said…
what is the name of the angel holding the boys hand?
At 12:35am on September 25, 2008, Jill Keenan said…
Howdy ho, Alicia! Hope you and yours have been well. Just wanted to give you an update on Wyatt's biopsy. Dr. Wong called about 2 wks ago to tell us that he has 25-50% dystrophin and put him in the mild to moderate bmd!! We were so thrilled! We were thinking at best he would be considered a severe bmd but most likely a moderate dmd. We had heard that the minimum amt. you needed for dystrophin to be useful was 3-10%, so this is way beyond our wildest dreams. We are just over the moon, to say the least! She told us that he has hypotonia (low muscle tone) as well, which is makes him seem to presenting with md symptoms now. I had never heard of hypotonia so am trying to study up on it now. When we return in Feb. to Cincy, Dr. Wong said she wanted to run tests to see what is causing the hypotonia. Hope we can get some answers but are just overjoyed with the bmd diagnosis=) Just wanted to share our news with ya--I bet you are getting anxious to get to Cincy, huh? I am --so she can help interpret your dna and biopsy tests, and whatever esle you had done but couldn't get great help in deciphering what it meant.
Anyway, take care and I'll chat with ya later! Jill
At 10:30am on August 27, 2008, Julie Gilmore said…
Hi Alicia,
Mitchell has Graston won't even try to explain it as there is an international site that shows the technique with videos :
http://www.grastontechnique.com/Slide_Show.html
We go twice a week, and it has really helped Mitchell.
Your son is still quite young, so at this stage it would only offer a slight benefit, however as he gets older (and once his heels start lifting off the floor) that will be the time that Graston will really pay off.

It has long been found that keeping the heels on the floor keeps boys walking longer. Our chiro has just done Graston on a child with DMD whose heels were a good 2" off the floor. After each graston session his heels "dropped" anywhere from 1/2" - 1". Now bearing in mind this was on a child who had not had their heels on the ground for some time, so I'm confident that early intervention with Graston before the heels lift too much will prove very successful at keeping the tendons from contracting prematurely.

Our son has been non ambulant for 3 years now, but the improvement to his contractures was remarkable - it has increased Mitchells range of motion, which combined with regular stretches has made a big difference to him.

Hope that helps,

Jules
At 9:09am on August 15, 2008, Julie Gilmore said…
Hi Alicia,
was leaving a message for Jill and noticed your post re chiros. We have had Mitch at the chiro's for 6 months but not for "cracking" - for Graston. If you want to know more drop me a line and I'll give you more info. Mitch is the first DMD boy to have the treatment (that any practioners know of) and we have been really happy with the results. :-)
At 5:17pm on August 14, 2008, Jill Keenan said…
Haven't heard anything about Chiropractors in regards to md. But it's funny that you mention that b/c I just went out with a friend of mine whose hubby is a chiropractor and she was telling me some interesting stuff he does with regards to nutrition. He is a health nut! She is going to drop off a book for me today that he wants me to read, so I'll let you know what I think. I can also ask him about adjustments for our boys and see what he says. (Although, I don't think he has any md patients.) It can't hurt to ask.
At 4:40pm on August 14, 2008, Jill Keenan said…
I just saw on the "Dr. Wong Visits" group, that you have your first appt. in Dec. I am so happy for you. She is one smart cookie and I think you will come away with the feeling that you are in good hands with a doctor who knows her stuff--and will find the answer if she doesn't know it=) Good luck!
At 12:47pm on August 5, 2008, Jill Keenan said…
Alicia,
I sooo "enjoyed" the conference! I was, however, on information overload. I tried taking noted but man, those presenters talk at lightning speed, so I gave up after the first day and just occasionally jotted down info. here and there. It was great to meet so many parents and talk and share our stories. I was really interested in what the researchers said about upcoming trials but was disappointed that things just aren't moving fast enough!! I want a GREAT treatment yesterday. Most clinical trials will be starting in a year and some can be completed quickly (one researcher said w/in 18 mos) others will take longer (maybe 3 yrs.). But I am soooo very grateful that things are on the horizon and that researchers are dedicated to finding something for our boys. Most agree that treatment will be a cocktail of several drugs that target certain areas. We heard about some promising drugs and can't wait to see these progress to viable treatments for our boys. The one that I think is the most promising will be utrophin. This will work for ALL the boys and it is something our bodies produce already. I hope you can go next year--you will learn so much and I would love to meet you!
Have you gotten an appt. date to see Wong yet? Were you able to press your original dr. for info. about the specific mutation? Our next appt. with Wong is Feb. 17. It would be great ifwe happen to be there at the same time=)
Hope all is going great in your neck of the woods and that you are feeling and doing well with all of this md stuff. Jill
At 10:52am on July 25, 2008, Jennifer Collier said…
Ryan is also doing very well. I am trying very hard to get him in to a preschool for children with special needs. In addition to the DMD, Ryan also has significant delays in the area of speech and communication. I think a special education setting will benefit him greatly. They said he should automatically qualify due to the diagnosis of DMD, but the speech is what he really needs. My mom, sister, and a few friends have joined PPMD to support my family. I am very blessed to be surrounded by wonderful friends and family! I am very glad to hear about Deacon. How is the scar from the biopsy? I am considering a muscle biopsy for Ryan. Dr. Wong is in Cinncinnati, right? If he wasn't so far from Florida, I would love to see him as well. Ryan doesn't have his first appointment at the MDA clinic until mid-September. I look forward to talking to you. I get a lot of comfort from knowing I am not alone in this. Thanks for all of the kind words!
At 10:28pm on July 24, 2008, Jennifer Collier said…
HI Alicia,
Thanks for looking at my new pictures. Your family is beautiful! How's Deacon doing?
At 8:33pm on July 24, 2008, MommaToo said…
Hey-sorry it took so long to get back with you. Brandon was diagnosed at the age of 6. His dad and I had dated for about 5 months, and had been married for only 4 months when i took hime to the doc. She had experience in working with kids with DMD, so she picked it up the first visit. I was crushed! I felt like someone had ripped out my heart. I got very very depressed and cried for weeks. Then one day I just said ok, this is the cards we are dealt. Lets try to play the best hand we can with them. Although far from a perfect life, we just focus on making sure he experiences a lifetime of memories in the time we are able to .
At 5:33pm on July 23, 2008, Charlott said…
Hi Alicia. My son is 12 years old. He walks on his toes , runs and climbs stairs a little slowly . Other than that he is pretty strong. One question I would have is about muslce cramps. My son got one at night that was so bad he could not walk for the rest of the day. I thought maybe he over did but he said no. I was just wondering if this is normal for md patients.
At 9:45pm on July 21, 2008, MommaToo said…
My son is 13. ( Quick response to your blog- i used to get so upset when kids would be mean to Brandon. I would always scold them and tell their parents that Brandon has enough trouble standing without their little one's pushing him. I really did not mean to sound like that, but when Brandon was newly diagnosed, I was psycho mom and had tunnel vision when it come to Brandon. now that I look at it, i know I over reacted a bit!
At 8:52pm on July 21, 2008, MommaToo said…
Thank you. My son's biological Mom sent me a link and I was so thrilled to see this!
At 10:50pm on July 14, 2008, Johanna Schroeder said…
Alicia,
Thanks for the message. I have 2 boys with Duchenne's. Justin age 7 on Sept 4 and Jason 4. We see Dr. Wong once a year and she is so wonderful. Our two children are on steroids and our doing quite well. Thanks again. Take care. Johanna
At 11:53am on July 14, 2008, Misty VanderWeele said…
Try Craigs list for your bottle cap quest, have you heard of it?? Google it and check it out.

Hope this helps : )

Misty
At 4:39pm on July 13, 2008, Jill Keenan said…
Hi Alicia! I loved looking at your pictures--your kiddos are gorgeous! As for changing your profile pic., the only thing I know to do is to click on "change my photo" link which is right underneath the profile pic. That will send you to your profile info. page. Click on the profile pic. box and it will bring up a page where it will ask u 2 upload a photo or change photo--something along those lines. And you should be able to upload whatever pic. you want and use it for your profile pic. If you have already tried this and it didn't work, maybe email Ryan Fischer and he should be able to help you or find someone who can!! Good luck!
Wyatt had his biopsy on his upper right thigh, which I assumed was common b/c the ones I have heard about have all been on the thigh. That said--I don't know many that have had biopsies--maybe 5-6, so take what I say with a grain of salt. But I do know one mom on here whose son had his on the back of his calf--I had never heard of that but that doesn't mean anything. I had also heard that some boys in the PTC124 trial were having it taken from their arm?? I think different drs. have their own way of doing things and am assuming that it doesn't really matter where they get the muscle.
Anyway, I am heading out in the morning, and will try to check on here and my email when I can. Have a great 3 wks and I'll chat with you when I get back! Jill
At 9:28pm on July 11, 2008, Jill Keenan said…
Alicia,
This is what one of the dad's had to say about the info. I gave him about Deacon:

Hi Jill,

Asking Franco is a really good idea. He helped me many times in the past when I was trying to figure this stuff out.

As for your friends son, I do not know too much about BMD, but I believe there should still be specific exon(s) mutations found on the dystrophin gene. So, seeing that no common deletion or duplication was seen kind of baffles me. When at the Utah database, I have seen reports of BMD patients with deletions, duplications, and stops. CLICK HERE for the University of Utah Genome Center.

Was a blood test done prior to the muscle biopsy? If so, what did that say?

Our friends sons location wasn't found for a while, eventually, they found out their son had a duplication of 2 exons. I have heard of others later finding out that their son had LGMD instead. I guess I would tell your friend to keep pushing until an exact mutation/location is found because, for me, it would be harder not knowing exactly what was happening to my son. Because you mention “nucleotide position 7318” I going to guess (and I emphasize GUESS) that the location is between exons 50 & 51.

Sorry I couldn't help more on the terminology of your friends report. I just suggest to them to keep pushing for an answer.

Take care,

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