Hi Kelly, I just saw your message from June. My son is 13 this year and yes 3to7 deletion. We are on Deflazcort 3/4 of a pill, Spirolactane, Cardveil, Lortsan, and Fosomax. We were hoping to have his steroid lowered but they saw some fibrosis and said we need to start Spirolactane and double the dose of Cardveil. My son is doing well, walking great but does tire easily. He did put on 20lbs I believe due to being less active. Trying to get him to do more things. I have decided to Home school him this year. I couldn't have a piece of mind knowing his health problems. I'm fortunate not to have to work outside the house, so far he loves it. Please update me on how Cade is doing. Are you guys still seeing Dr Wong?
Kelly, were about to go to Cinn to see Wong and have the skin biopsy done, you said Cade didn't feel it during, what about after? Was there a sore? I would like to know so I can be prepared with the fall out.
hI, kELLY I just saw your post about the sleep study, my son did have one done this past Jan. when we were at Cincinatti Childrens hospital. THe results were he has mild to moderate sleep apnea and was advised to have his tonsils out, well after talking to Dr Wong about this she advised we wait 6 months since he just started Deflazcort to see if that may shrink the tonsils. We will probably have another sleep study done when we return to Dr Wong in August.
Thank you for getting back to me. Ironically I have just started weeding through the system, have gone on a few tours and applied at a few charter schools just in the past week. Avery will be starting Kindergarten in the fall. We have our annual IEP coming up in April and I would really appreciate any suggestions you could think of prior to our meeting. I have felt so "safe" having him in a private preschool but this move to a public school has me unnerved. I just want to make sure that I'm making the best decision for him.
I just wanted to say hi and introduce myself to you considering that we live so close to each other. My son Avery will be 5 in April and has a "duplication" of exons 3-7, which was orginally diagnosed by the neuro at UCLA as a deletion due to misinterpretation of the results. It was a huge mistake on their part, which is why we also no longer go to UCLA and travel to visit Dr. Wong as well. Your son is adorable!
Of course I remember you and your husband when you came to one of our meetings. I was wondering if you were ever going to come back. Thank you for answering my discussion. I appreciate the feedback. Glad to hear from you. Cade is adorable - love the pic.
She didn't really suggest anything. But I don't think they know that much about us. They did have me get an echocardiogram and they wanted me to follow up every years. But I didn't really make a big deal about it because I think I have known all along than my body was different. I know that if I put a little weight on I feel alot worse but now it is so hard to lose since I had chemo. I go up and down. I definently feel better when I execise and do my streches. I do take a mulitvitamin, CoQ20 and glucosamine. And I start the moring with 4 advil and a hot shower. I have a hot tub and that really helps. I don't know if I would have made it through chemo without it. And it really helps the boys too. I can't take prednizone because I have this condintion called lymphedema from my mastectomy. I makes my right arm and hand swell. But the streching helps that too. But they give you alot of personal attention in OH. Much different then of experences in Boston. Let me know if she suggests anything to you. My regular doctor I think may think I am a bit of a hypochondriac, but can you blame me? He is really good though.
Gald you wrote back. Since I found out I have been looking for other 3-7 deletion families to share my story with. The worse case senerio is so scary I wanted to help at least give some people more hope.
We about me. I have always felt I was a little different all of my life. I was always very clutsy and uncoordinated as a child. I was really bad a sports and gym class was like a nightmare as was recess. Kids always made fun of me and I was always last to be picked for team. Kids would say do we have to have Eileen on our team? I took ballet from first to 8th grade. I really loved it but I was never as flexible as the other girls and stumbled a lot. I can still hear the instructor telling me to stand up straight and straigten my legs, but I was trying really hard to do that already. My body always looked really muscular even though I felt really week. My calf muscles looked liked I was lifting weights and my arm muscles were so much bigger than other girls my size. I was always thin but I felt like a freak. I could never run well and I would get really winded. I would get these horrible stiff neck and muscle cramps and my Mom would say oh they are just growing pains. I always had a cold or sinus infection or ear infection. As I got older I did seem to get alot stronger. I made up my own exersice and streching routines. I loved to walk. But if I overdid things my muscles would really hurt and burn the next day. My joints always popped like an old person. I just thought that was normal. I found I had a love of gardening and that became my "sport".
I made me feel like a normal person finally. When I was married to my first husband he always complained about how I was always tired or sick. He thought I was just trying to avoid him or doing things with him. That I need to see a doctor to find out what was wrong with me. He thought it was a mental problem. This in part lead to the end of our marraige. He left me when older son was 1 year old. This set me off exercising again like crazy. I got really thin and in shape. I felt really strong for the first time in my life. It made me mentally stronger too. I met my new husband a year later and had his son too. When I carried Jared my jaw started really locking up. My jaws was popping out of the socket and I damaged the muscles and developed TMJ. I ended up going to PT for it. When they evaluated me they found I had mild scoliosis and problems with my sholder and back muscles and poor flexiblity in many areas. The therapist said it was lucky I had done ballet and all that our I would have been in much worse condition. So that set me up with more exercises that really helped my fexiblity and posture. I was feeling really good for a while. When I was 31 I found a lump in my right breast and it turned out to be cancer. I had a mastectomy and went throught chemo. I really took alot out of me. My muscles really atrophied and now 6 years latter I still don't feel as stong as I did before and I feel much lest flexible that before. If I overdue it in the garden I really am sore the next day. So when they boys were diagnosed their was a part of me that was like see I knew their was something wrong with me. It was made so much sense now. My regular doctor didn't really think anything of it but when I saw Dr.Wong and told her all this she took a look at my legs and agreed with me. And of couse I have the same deletion as the test showed. I have really learned to trust myself over doctors about my body and not feel like a hypochondriac and fight for what I know is what I need. I of course felt so much guilt about my boys because I have a family history of this. But I can't imagine my life with out them. They are my life. All of this has made me a strong person and I know I can do whatever it takes to help and care for them. I am so glad to have PPMD in my life and for all of us. And I want you to know you are not alone and I am here if you need me. It is so weird everytime I find another family I feel like I have found a lost reletive. Thanks for contacting me. Please stay in touch -Eileen
My boys and I have deletion 3-7 also. We also see Dr. Wong. Calvin is now 12 and walking really well and has been on deflazacort for 2 years. He was diagnosed when he was 9. Jared is 9 and he also is on deflazacort and still loves to run.
I wanted you to know about my uncle and 2 first cousins who had this. My uncle lived to be 39 and by cousins both lived into their 40's all with really no treatment at all. They never had any resp. problems. Do you have any family history?
I am been looking for people with kids diagnosed with MD a little later on in life. Some of you mention that your kids are missing 3-7. My son, who will be 9 in November, is missing 48-50. He showed little symptoms until his 8th year. He runs, slower than his peers, jumps, climbs a climbing wall, hikes, goes up and down stairs, gets up from the floor easily - athough sometimes in gower and sometimes not. Liam could do all this prior to starting steroids at age 8. He is not on Deflazacort - for a monthand we have not seen the night and day strength changes because he was fairly strong before - it seemed. We initially started prednisone and Liam was so totally hyper on it and ravenous that we had to stop and switch to Deflazacort which we now feel in wonderful - not crazy appetite and no hyperactivity. We love this. But my question is this - will our sons be around in their 40 and 50? I read so much of those children diagnosed earlier and are in wheelchairs by age 14. I just don;t get this - our children are older, does that mean they will live longer? I know I'm totally naive here, but I would love some advice from people who know what this really is. Some of those people we used to know have gone into hiding when they heard the MD diagnosis. And that sucks too. Please help me out of my horrid MD day.
Thanks to all.