Alicia's Comments

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At 9:37pm on July 10, 2008, Jill Keenan said…
We are doing good--Wyatt is taking it easy. His leg is sore and he is a bit testy every once in a while but seems to be overall in good spirits and not in pain. Yeah!! Glad it is over!!
I am soooo glad you were able to get in touch with Dr. Wong and her staff. All of the nurses that I've talked to have been super-duper sweet! Shirley is esp. high spirited and upbeat. I don't mind at all if you said I referred you. I was so happy to talk to you and if something I said helped you for the sake of your son (& you=), then I am glad. I was just hoping you didn't take offense when I said I thought you should see another doctor--I just couldn't stand the thought that you were given incorrect or outdated information, which could have huge impacts on your son's life!! I'm not sorry to have given you the info., just sorry if I came across too strong or overbearing--like a "know-it-all!!" I am far from that and still have a looooong way to go--I know squat about this MD world. Glad I could help. Email or call anytime. I will be gone until Aug. 4 and will only have access to the internet until July 16--so don't think I am ignoring you but will get back to you as soon as I can. (If you call my house and leave a msg., my husband can (if he remembers) relay the msg. to me!!)
Great job on how fast you got in touch with Dr. Wong and hope the process goes smoothly! Talk to ya later!
At 1:40am on July 10, 2008, Marla Swope said…
Hi Alicia-
Thank you for your kind words :) It's so nice to have people who know exactly what you are going through. It's not nice that so many families are going through this, but I know you know what I mean.
I love the names you chose for your children :) I'm a stay @ home mom too, and that can be one tough job, but I wouldn't have it any other way. I thought about going into the workforce when Baylor was older, but that was before DMD entered our life.
How is Deacon doing? Was he diagnosed with DMD or BMD? We already knew through DNA testing that Baylor has DMD, but we got his biopsy results today, and they confirmed DMD. No dystrophin, which didn't surprise me, but I'm glad we did the biopsy, because hopefully it will help us know what kind of research will be helpful in his future.
That anesthesiologist really did/does worry me. My husband tells me that I need to send him some information regarding the danger of certain anesthesia's to our boys, so that I can sleep at night. I'm in the process right now of gathering some papers on it. As common of a disease as Duchenne is, you would think that he would be up on this, and even if he wasn't, that he would be considerate and want to learn something important for the safety of future Duchenne patients he may put under. Hopefully he'll choose to educate himself on this issue.
Well, I better hit the hay, Baylor has early OT in the morning.
Take care :)
Marla
At 8:47am on July 4, 2008, Jill Keenan said…
Hi, Alicia! I read that your son has been given the diagnosis of bmd through a muscle biopsy. Is that correct? We are having a biopsy done next week to determine if Wyatt (who is 4) has bmd or dmd b/c his deletion of exons 45-46 is predicted in-frame, usually leading to bmd. They will base their decision on the amt. of dystrophin found-less than 5% is considered dmd; more than 5%-bmd. How did your dr. come to the conclusion of bmd-the amt. of dystrophin? If so, if you don't mind sharing, what was this amt.? I am also curious b/c I think I read that they did not do any dna testing on your son, just the biopsy, right? But yet you don't know what mutation he has. I may be wrong, but I would have thought they would have been able to tell you this from the biopsy. I would ask whomever did the biopsy--maybe they, for some odd reason, did not tell you. I have read that it is so important to know what the mutation is so that you will know what trials/potential treatment(s) will benefit your son b/c all treatments will not benefit all dmd boys. I believe utrophin is for all boys, but PTC 124 is not. It's only for those with a pre-mature stop codon, which accts. for maybe 10-15% of dmd boys. So knowing your mutation is highly recommended. You probably already knew all of this but figured it wouldn't hurt to tell you just in case you hadn't. How long ago did you have the biopsy done? I am nervous about having the biopsy done but feel it is something we should do. The whole being put under makes me nervous, esp. given that our b/dmd boys can have fatal reations to certain types of anesthesia--I do feel confident on that front, as the dr. doing the biopsy does these all the time, mainly for the kids in dmd trials where a biopsy is needed. Wyatt is also the first surgery of the day, which they say is important b/c no one else has used the equipment for putting others under with an anesthesia that might be fatal for b/dmd boys. Sorry for all the questions--just so curious b/c your son has bmd and is younger than my son. (Most drs. will just say dmd b/c of the young age--so glad to hear there are some boys diagnosed with bmd at a young age!! Well, I just re-read that last part and it sounds like I am happy that boys are diagnosed with bmd, which is certainly not the case!! I just meant, that since these young boys have been given a md diagnosis, then I am glad that it is bmd 1)b/c it is less severe than dmd and 2) b/c it might mean that my son could have bmd not dmd even though he was diagnosed at a young age.) Look forward to hearing from you!
At 10:40pm on June 27, 2008, Jennifer Collier said…
Hi Alicia,
Sorry it took so long to get back to you. I have a Vacation Bible School Parent night for my daughter. She'll be five on July 11. How old is your daughter? Sometimes it breaks my heart when she asks when Ryan will be able to play with her. Since he doesn't communicate very well, its hard for her and she gets frustrated with him. We recently moved to Florida from North Carolina. I have to see another doc for his appointments anyway, so I will be able to get my second opinion. I am not sure whether or not I want to put my little guy through the pain of the biopsy. How did Deacon handle it? If you ever need to talk, please feel free to contact me. I am usually not far from the computer!
At 6:30pm on June 27, 2008, Lee Ann Faeth said…
Hi Alicia,
I'm sorry that you have had to join us. My son did not have a muscle biopsy done. He had DNA testing. Who did your son's biopsy? Did they tell you what his CPK level was? I am also assuming that your son has been recently diagnosed. I have to tell you that much of what I have learned since my son's diagnosis has been through all of the wonderful parents here at PPMD. Although my son was diagnosed at an MDA clinic here in Los Angeles they offered me very little guidance or information. My first recommendation would be to contact the clinic that performed your son's biopsy and get a copy of the test results. Then register with Duchenne Connect at www.duchenneconnect.org. Upon registration, they will require you to send them a copy of your son's test results which will then be reviewed by a geneticist. The geneticist will discuss the results in much better detail with you including interpreting your son's mutation. (deletion, duplication, stop codon, nonsense mutation, etc.). This information is very important to know because his future treatment could depend on it.

I know there is so much to absorb upon learning of our sons diagnosis that I don't want to bombard you with too much information at one time. There is also a wealth of information on our old forum here. http://forums.parentprojectmd.org/cgi-bin/yabb/YaBB.cgi. You can use the search feature to find more information on mutations as well as Becker MD.

I wish you and your family the best.
At 3:36pm on June 27, 2008, Jennifer Shumsky said…
Hi Alicia,
We are not "to far" from you, only about 4 hours in Shakopee, MN (20 min south of the Twin Cities). How old is Deacon? What clinic are you going to? I am assuming you are newer to your diagnosis, I'm sorry you had to find us. My son is 6.5, he was diagnosed when he was 4 and he is doing great. His diagnosis is DMD, but he is actually doing quite well, so we take one day at a time and see where he falls on the spectrum of BDMD and DMD. Take care and if you are ever in MN we'd love to meet you!
At 1:54pm on June 27, 2008, Jennifer Collier said…
Hi again. Ryan crawled around 13 months, and walked around 22 months. He was very limited speech and communication skills. He has been in speech therapy, physical therapy, and occupational therapy for over a year now. We recently moved to Florida from North Carolina. Now he is getting no services because he has to be re-evaluated in the state of florida (a whole different story!) Our doctor said he didn't need a muscle biopsy because the DNA test came back positive, but it was not conclusive. I hate to doubt a doctor (especially one highly-trained at Duke) but how can he be for sure about Ryan's diagnosis? I am so glad you contacted me. When was your son diagnosed? We learned Ryan's results on May 29, 2008. This is all soooo new!!! And scary!
At 11:40am on June 27, 2008, Jennifer Collier said…
Hi Alicia. I was wondering how your doctor distinguished between BMD and DMD for your son. The DNA test for Ryan came back positive for DMD/BMD - and was not conclusive between the two. If he has to have either one, I would rather he have BMD because it seems like he would have his strength longer. Is he showing signs of the disease? My son will be three on August 30, 2008. He has delays in speech, but is still gaining strength and walking fine. He was never typicval in development, always a little late with milestones. He really isn't showing any signs specific to DMD yet. His doctor says it is Duchenne and not Becker because of its early onset - but I do not believe it is onset yet. The only reason he was tested was becuase they could not find any other reasons for his delays from birth. But like I said it was not conclusive. I would love to chat with you. I am going to add you as a friend. Please keep in contact - I want as much advice as possible.
At 11:38am on June 27, 2008, Kathy Brock said…
Alicia thank you so much for responding. This is all so sad. It's the emotional end of it that I struggle to find an out let. I imagine it's the same for all. I was in therapy a couple of times and was told, "You just have to deal with it." No really? The friends I was close to find this too over whelming to hear about. Which I understand. I can't imagine what it is like for you being your only son. How old is your son Alicia? What is his name? I will be seeing my son, daughter in law and grandson, Jacob this weekend. I am very greatful for that. For some reason I always feel better when I'm near them. I like to spoil them all while they are here. If you don't mind sharing these things with me Alicia how many other children do you have? I'm only asking because I do care even if I don't know you personaly. Thanks again for writting me. You will be in my thoughts and prayers. Sincerely, Kathy
At 10:35am on June 27, 2008, alicia said…
my 3 year old son was recentley diagnosed w/ becker md not dmd i guess i'm just looking for any one else who might be familiar w/ this or have any advice for me

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