Just checking in with you. Hope all is good with you. Have you been able to order deflazecort yet? Just curious to see if you notice differences btn the two steroids. Haven't heard from you in a while and just wanted to say hello! Have a great rest of the week! Jill
Irishgirl I agree with Nicole that I am sorry to hear about your son, but here is some good news. You are in good hands Dr. Leshner is a great Doc. I have known him for about 20 years and he use to take care of my children in Richmond, Va. until he went to DC area. He has alot of knowledge, and if you don't understand something tell him and he will explain it better to you. I have been around DMD for over 20 years. I have seen alot of changes too.
I'm so sorry to hear about your son, Liam. It is news no parents ever imagine they will hear.
Like you, we go to Children's in DC and Dr. Leshner is our doctor as well. He is great and we have had nothing but excellent care from the whole clinic team there.
My son, Tyler, is 9 and was diagnosed with DMD at age 3. He has been on prednisone since then. He had not had any problems with weight gain, but he does have behavioral issues. (He has also been diagnosed with AD/HD and was a handful before the steriods!) His growth has definitely been stunted; he still wears a size 5/6 and is the smallest in his class. But, back when we first started giving him the prednisone, we saw an immediate improvement in his strength.
Where is Aldie, VA? We live in Fredericksburg, VA, in Stafford County. Maybe we could get together sometime.
We will go every 6 mos. to Ohio and Dr. Wong will be the only neuro that we see. We do OT and PT here and have a regular pediatrician. We will start Wyatt on deflazacort after he has his muscle biopsy, which will hopefully be soon! We decided on deflazacort b/c the side effects seem less severe. Even our dr. said that if it was her child, she would use deflazacort. Somewhere on this site (well, it was on the old PPMD main site--just assuming they have it on the new one.) is an article which talks about the differences btn. the two steroids. I will try to locate it and let you know how to access it. I really don't know much about DMD--others know way more than I do but as you know, you find yourself on a huge learning curve when faced with something like this. It is all so confusing and sometimes it seems the more I learn, the more confused I get! It is such a complex disorder. I have been meaning to ask you if the dr. thinks your son might have BMD, not DMD b/c of his late diagnosis and mild symptoms. When we visited Dr. Wong in May, she talked about B/DMD being on a continuum--starting at one end, you have severe, moderate, mild duchenne, then "outliers", then severe, moderate, mild beckers. (Outliers are those in that middle ground--that aren't mild duchenne but not severe beckers either.) I say that to kind of explain how it is kind of the same disease but varies in the severity. That said I'm not sure of the differences btn. a mild duchenne, outlier,or severe beckers. (As in how much longer will one walk, survive, etc. if one has severe BMD vs. mild duchenne or being an outlier.) Just wondering if the drs. had given any indication as to which one. Hope I made a little bit of sense--sometimes I confuse myself=) Later! Jill
I just read your comments on the discussion board. Your son sounds similar to mine in that he is "older" when diagnosed and not displaying typical signs of DMD. Alexander is 9.5 and missing 2 neucleotides on exon 44. We just found out his dx last October but he had signs nobody recognized. He moved slow, fell more often than his peers and wasn't very physical. We didn't care if he wasn't going to grow up to be a football player. We thought his little quirks were typical for "nerds" and fine with us.
Recently we started prednisone and have had "roid rages" to work through. Alexander appears to have gained weight too. I think we will switch to deflazacort soon.
But we have seen several Ped Neuro's lately and they all say Alexander is not typical for DMD. He seems to be a cross between DMD & BMD. I asked what/if any consequence that has on the ultimate prognosis and was told they don't really know yet. Alexander continues to walk although it seems to be slowing, he can climb stairs but does it in a variety of ways one of which is walking upright.
My understanding, and I could be wrong, is that the symptoms can occur quickly. It appears no one really knows when/if he will stop walking, ect...therefore we have a little scooter on hand and available for when that happens. Also we have taken steps to keep Alexander's bedroom/bath/play areas downstairs. We try to get him in the pool 1 hour daily (swimming and sunlight is great for DMD) we try to ignore his loud yelling (good for respitory I think), we have obtained a dog to be trained this summer to be his helper, we will start PT soon and night splints and we allow him to cut back on homework when he gets too tired per our arrangement with his school. All this while trying not to let his spirits get down and by hiding our sadness as much as possible. I know it sounds like a lot but really with a little help from friends it has come together quickly.
Have you checked into exon skipping? PTC might not be the solution for your son, he has deletions, right? Exon skipping is in 3rd phase clinical trials in the UK. My understanding is the trial is going in a positive direction and we should know more by Dec this year. Should this work, it should come in time for your son. But please do some research at this websight and ask your MD.
Anyway, I hope some of this info helps. Feel free to ask anything, anytime. We are here for you.
Yes I live in Texas—Houston, and we traveled to Ohio for the first time this past May. We were completely impressed with the care we received from Dr. Wong and her team. Sounds like you are at one of the Wellstone Centers and at the clinic that Hoffman runs, so you have landed at a great facility. I think there is a lot of research going on there, so that is exciting. The lady I spoke of that is on this site—her name is Tina and her son is Mark. (Just search for “Tina” on the members list—she doesn’t list her last name.) A friend sent me a link to their caringbridge site, and they are quite active in fundraising, up on the latest research, etc. You might want to send her a msg. as I bet she would have so much information to offer.
If I’m not mistaken, I believe the exon skipping of 51 will “work” for your son, given his deletions. (I say “work” b/c they say each child will react differently to the treatment.) That is great that Liam did not show signs before now—maybe he is a mild DMD. Sounds like you already have everything in place for him—OT, PT, IEP’s, etc. He sounds like a very happy and lovable little guy!
We put a pool in last summer (before we knew about his DMD), and he just loves to swim and has become quit the fish. I am so glad since it is one type of excercise that is good for our boys. Good luck building your pool; we had quite the time getting ours done. We started mid-April, and were told it would take 5 weeks (which is about the norm for here)--2 weeks before school got out. I figured that gave us an extra 2 wks for any mishaps but should be good to go for end of the year swim parties. Well, finally toward the end of August, we were able to swim--a week before the new school year started=(
Good luck on trying to have a baby girl—Liam would probably love and enjoy the antics of a younger sibling. I know Wyatt would love to have a “baby” around the house—he LOVES babies. But we have 4 (3 girls and Wyatt—the youngest), so I feel that we are done and he can play with other people's babies=)
I completely agree with your thought of no regrets!! Try as you might to not have any regrets with “normal” children, you do take things for granted—most do! And now we do have the “forced” insight to not take one single thing for granted and enjoy every smile, every laugh, every silly joke that gets repeated over and over, every curious question, etc. I have to make sure to balance this with my other 3 and husband, as well, and not forget that they could be taken at any moment from my life. Some days I am better at this than others, but I just keep trying!
Hi Noreen! Sorry for the late response--I was gone for the weekend and didn’t have access to the internet. I will try to answer your questions.
Yes, Wyatt is my son with DMD and he is 4 ½ yrs old. In Oct. 2006, I took him to an orthopedic b/c I thought he had sprained/broken his foot (turns out it was nothing). While I was there I mentioned that he had an odd gait—kind of pigeon-toed. The dr. checked him out and said that he would just out grow it—nothing to worry about. She even commented on his muscular legs. I said the takes after his dad. So, a year later when he still had not outgrown this odd gait, we figured we better take him—thinking he MIGHT need some PT to help with the feet turning out. Our pediatrician had him stand from a seated position, jump, etc. then sent us for a blood test. She called that evening to tell us he had some form of MD! We were devastated!!!! But until I looked it up on the computer, I had NO idea it was fatal—just thought he’d be in a wheelchair. We waited for 2 months (Dec. 21, 2007) to get in at Texas Children’s Hospital here in Houston to see Dr. Lotze and he said it looked like DMD and ran some blood work on Wyatt. We waited another 2 mos. (Feb. 22, 2008) to get those results. Dr. Lotze told us it was DMD and that Wyatt had a deletion of exon 45 & 46. Well, we went home and did some research on missing exons 45 & 46 and found that it usually leads to BMD b/c it is an in-frame deletion. Lotze knew nothing about this—he said that beckers was in the “lower” range of #’s-single digits to the 20’s, which is completely not true! W went in mid May to see Dr. Wong in OH, and she walked in with a paper (one we had already read) which states that the 45-46 usually leads to BMD. We knew we liked her right away—she had actually done some research about our son and his deletions BEFORE we ever saw her. She did say that 10% of the time, this 45-46 deletion presents as a DMD, and given his early age of onset, was probably DMD. We wanted to know for sure so we are waiting for an appt. to have a muscle biopsy done. This should tell us, among other things, the amt. of dystrophin he has. If it’s less than 5%, it will be DMD, more than 5%, BMD. Hopefully we will soon get an appt b/c we can’t start him on steroids until this is done. We will put him on deflazacort b/c the side effects are less severe but it is just as effective but it does cost more b/c insurance does not cover this. I have all the info. on how to order this if and when you get to that step. I too have heard of the behavioral side effects but have heard that this usually happens when behavior is already an issue and the steroid just makes it worse. I know 2 people who have their son’s on them and they haven’t noticed any significant behavioral changes, but there weren’t’ really any problems before.
Wyatt is in pre-school –he won’t start kindergarten until Aug. 2009 and he will be at a public school. We started PT and OT in March. PT is weekly for an hour and it is in the water, so I guess it is technically aquatic therapy, which they say is better for their muscles. PT is such an important aspect in their life so I feel it is imperative to find a PT who has worked with DMD boys or is at least willing to learn all they can about how a DMD should receive PT. We also do OT but only every other week. He has some fine motor sill issues—like writing, zipping zippers, etc. Sometimes I think this is a combo of DMD and being the baby & only boy in our family—he definitely gets babied!!!!
I for one am not planning on telling Wyatt that his life span will be shortened! When he is older, we will revisit that topic and decide then what we think is best. I don’t want to make this one of those self-fulfilling prophecies, where I tell him and he just decides to give up! Plus I don’t think a child should have that burden place on them at such an early age—it’s hard enough for me and I’m 37! Some feel very strongly about telling them –they feel like you shouldn’t lie to your child but man, I’d rather lie than lay the hard truth on them when they are so young. I “lie” about Santa, the Easter Bunny, and the tooth fairy, as many do and feel like it gives children magical moments that are just priceless on the joy scale! But that is just me. You have to do what you think is best for your child—would he want to know now or later? Will he resent you if you don’t’/didn’t tell him sooner??? Tough decisions!
I am not a carrier but not sure about my girls. They recommend testing them a) when they can understand what they are being tested for and b) when they are at an age where they might become sexually active. The genetics counselor said that they have a 10-15% (I think those were the figures—pretty close if they aren’t exact) chance of being a carrier.
Wyatt is doing well. He seems to have okay strength but he can’t run as fast as his peers, likes to be carried or in a stroller if we are walking for very long, and he goes up the stairs one foot at a time.
I don’t know much about Dr. Hoffman but do know there is a lady on here who takes her son there—last name is Carson. I will find out more for you and let you know. I am right with you–I would take Wyatt anywhere in the world for care and treatment!
How is Liam doing? What made you or the doctors think something was wrong? What grade is he in? I think it would be a good idea to get some things in place at his school before it starts again in the fall. I have heard that change is hard in a lot of schools for certain accomodations. I thinkn there is a thread for the IEP's that need to be done--I am not familiar with these as Wyatt is still in pre-school, but would be happy to help you find a way to navigate that area! Feel free to ask me anymore questions. My email is firstname.lastname@example.org. If you email me, I can give you my phone number and you can call me, as well. I would be more than happy to talk to you. Hope you can find the strength to keep plugging along—just take it a day at a time. It does get “easier” (for lack of a better word) as the days go by—maybe b/c it is just too hard to live at that level of pain everyday. Talk to you soon. Jill
Let me see if I can answer all your questions for you. My son was diagnosed at age 9, we went to speak to his Dr. after his 3rd grade teacher and the school's PE teacher came to us with some concerns. She did the initial CK test and then referred us to the neurologist. He diagnosed him with MD most likely Beckers after a physical exam and ordered a DNA test which came back as not picking up any deletions or mutations. He then ordered a muscle biopsy with showed that there was no dystrophin present in the muscle sample tested. We had another DNA test done at the City of Hope here in Southern California and it also came back as unable to find and deletions or mutations. We have never been given a definite Duchenne's or Becker's diagnosis. He has never taken steroids since he was already dealing with a weight issue they didn't want to risk him gaining any more weight. He also has a seizure disorder and takes 3 anti-seizure meds. He has not had a seizure for over a year. Yeah! He just began serial casting to stretch out his heel cords on Thursday, we go back next Thursday and they take these off, check his range of motion and recast giving it some more stretch. They say it will take anywhere from 3 to 6 weeks. Fortunately he can take a few steps in the walking casts they put on, and that helps a lot. Especially since he is about 5'8" and 190 pounds.
If I left any questions unanswered just let me know and I will try to answer them for you.
I have a 5 1/2 yr old with Duchenne, and I see you only live about 30 minutes from me. We live in Warrenton. I was just up at Camp Highroad with my 5th grader, so I went by Aldie. Are you going to Children's Hospital in DC?
I am so sorry you had to join our little "family" but hopefully you will find this group of people just as we have...caring, compassionate and informed. We are new here as my husband said on a different message board (Paul Cliff). We have known about our son's diagnosis aprox 8 mos. Our son is 9.5 and is missing 2 neucleotides on exon 44. He is walking and runs, sort of. I too am a stay at home mom.
I know how shocking and terrible receiving this diagnosis is. I am sad hearing there is another!! Don't hesitate to ask for anything...all the info is here.
I am so sorry to hear about your son's diagnosis. We all know what you are going through b/c we have all been there, so you have come to the right place. It took me a couple of weeks to find this msg. board after our preliminary diagnosis but I learned sooooo much from reading all the posts. I don't know if you have discovered the "old" msg board on PPMD's main web page but it is full of valuable information. I also will tell you that I read (just like you probably have) that boys with DMD don't live past their teens and have since found that to be outdated information. While there are a few who die early, generally they are living to their mid-to late twenties, and quite a few beyond that. I know that still seems like an unbelievable thing to happen to your precious son, but every day counts. There are quite a few promising medicines on the horizon~mainly b/c of Pat Furlong and PPMD pushing for it. There are a handful of real specialists in DMD, who are commited to saving our boys. I don't know them all but here are a few--Dr. Wong at Cincinnati Childrens, Dr. Hoffman (he is the one who discovered the dystrophin gene) in the D.C. are, and Dr. Flannigan (sp?) at the Univ. of UT. We just went to Dr. Wong in May and were totally impressed with her and her team. She is current on her knowledge of DMD, etc. She treats the whole disease--we saw PT, nutrition, genetics, had an ekg and echocardiagram, bone age and bone density tests done, and she ran a whole bunch of tests from about 5 vials of blood!! The other doc's I mentioned appoach care the same way--at least that is my understanding. PPMD is also holding their yearly connect conference in July (there is a link to registration on the home page) and think this would be a great way to gain valuable info. and meet other parents. We are going for the first time as our diagnosis was only 6 months ago. I hope this helps a little and I haven't overloaded you--just gave you info. that I would have wanted to know in the beginning. Feel free to contact me anytime--I am still in learning mode and what I don't know, we can find others who do!! I will be praying for you! Jill
P.S. Several "groups" have started for those from the same state, country, etc. Not sure if VA is on there but you could always start one and hopefully find someone that lives close to you.