Happy Belated Birthday to your little princess! I hope she had a wonderful time celebrating her birthday. Thank you so much for asking your husband about the stell cell therapy. I really appreciate the information from him. Take your time in replying to me. I’m sure your life is very hectic. I hope we can all get together for a Seattle Duchenne meet-up group one day. I’m busy with work during the week but could come on a weekend. Thanks again for your kindness, Ruth! I’m very grateful that I “met” you. Have a fantastic weekend with your family!
Thank you so much for your fast reply. It was very helpful and informative, and I really appreciate it! My brother is going to talk to the researchers at Leiden University in the Netherlands about enrolling my nephews in a clinical trial for an exon-skipping 45 drug. He and his wife are reluctant to put the twins on steroids, but I think the boys must take steroids to be eligible for the clinical trial. My brother and his wife want to move to the US to be near family, but it looks like they will have to stay in Amsterdam for the clinical trial.
I’m very sorry to hear that there is no exon skipping drug available for your son. I refuse to give up hope, and I really do believe that advances in medicine will help ALL of the boys who have Duchenne. I’m so glad that your son is happy and thriving. That is what matters the most. I am inspired by his strong spirit and upbeat attitude. Your son and daughter are very lucky to be adopted by you and your husband. My brother and I are Vietnamese-American, and my brother’s wife is from El Salvador, so my nephews are half Vietnamese-half Hispanic. They are very skinny right now. The twins are my brother and his wife’s only children.
Thank you for telling me about your brother-in-law’s book. I’m glad that he wrote about his caregiving experience and about Duchenne. I saw that it is being made into a movie. That is great! I hope your brother and Casey can attend the movie premiere.
I have not joined any Facebook groups because I do not have a FB account. You are right about the sad stories. There are some posts on the message boards that make me cry and feel hopeless. I am trying to stay positive and follow your advice about adjusting how you envision the future. Thank you again for your emails, Ruth. My family and I are deeply grateful for your help, support and encouragement! Let’s stay in touch.
It’s Tracy (TConway) from Redmond, WA. I hope you and your beautiful son are doing well! My twin nephews were recently diagnosed with Duchenne. We just found out that they both have Exon 46-48 deletion. They will turn 4 years old in May. They are currently living in Amsterdam because of my brother’s job there.
Is it okay if I ask you some questions? My nephews’ doctor said that steroids is the standard course of treatment. But, I have read about some parents who have declined steroid treatment for their boys due to the side effects (stunted growth, weight gain, etc.). What do you think about this? Also, I found some clinics in Central America and China that will do stem cell therapy for boys with Duchenne. Do you think this is something worth pursuing?
I’m so sorry to bother you with all of these questions. I will not be offended if you cannot answer them. I don’t anyone else who has any knowledge or experience with Duchenne. My brother and his wife are devastated with the news about their boys, so I am trying to help by doing some research for them.
Thank you for reaching out to me. Until my nephew's recent diagnosis, I had never heard of this disease and did not realize the severity of it. I have been learning as much as I can in the past few weeks and keeping my hopes up. Thank you for your kindness. Your little boy is adorable!
Hi Ruth, just trying to connect with some of the other Washington families out there as there are many of us. We need to have an event to get us all together. I think FACES is supposed to do that but we never hear anything about it.
Yes, Brayden is older then Micah. My boys are adopted so there is no bio connection between then, thus why Bryaden does not have DMD. Micah is also cognitively delayed and we have faced many challenges in this area! he is in third grade but at about kindergarten level for all work (except language--talking that is) lol the kids can talk.
We are not able to go to the Muscle Walk this year but our good friends the Zenobios are (Addison is their son) you need to see if you can find them, they are wonderful!!
well, hoping we can all get together sometime in the near future!
I would love to meet you and talk. I can not meet during the week either, Mark and I work. You seem so together and I still cry every moment alone. My e-mail is email@example.com and my phone number is 425-265-9939. Jacob does not know anything so when they answer the phone just ask for me and give me a second to get outside or upstairs to be alone. Mark is in denial and I cry all the time. How can that be good for Jacob!
Hi Ruth, My little boy is 7 years old and has deletion 45. He has been on deflazacort for 6 months. Jacob was just diagnossed in January. Are there any support group or any kind of help out there for us? I have left Jennifer at the MDA office two phone messages and some emails but have never even talked to her. I feel so uninformed and when I look stuff up online it brings me to a place of deep depression. Thank you for replying, I thought Jacob was the only one with this horrible illness out there. Oh, how does this website work? I want to be friends with Char but tried and failed.
I actually drew blood on Mia soon after she arrived from Vietnam, as she was hospitalized for pneumonia in the ICU where I worked at the Children's. She kept repeating this word that the poor new, french speaking parents had absolutely now clue what it meant. She appeared very calm, but kept saying ki, ki (hard i, sounding like high). Then a few weeks later when she was better and discharged, the dad brought her back to the clinic for the "international adoption" blood work that we do to check for HIV, hepatitis, rubella, etc., and the dad was relieved that it was me again going to draw the blood because he found I was very gentle and she didn't cry (adoptive parents are usually more anxious and worried about everything than biological parents). And I remember them that day, and discussing her repeating that word. So the dad is very touched that almost 2 years later now, I remember them from all the kids I see each year, and his proof is that I mentioned that she was repeating that word.
Some people just "stick with you", there's a connection. And you are one of those people Ruth. Thank you.
Andrea (I will shut up now before PPMD kicks me out again!)
Hi Ruth (of the "looks like a kiss, sounds like a fart" moniker), I'm still hanging around. Staying out of trouble for the most part (NOT!) Sent the boys to and from school today for the first time by bus. It's only a 10 or 12 seater, very modern and rather low-rise, so only 2 stairs and they are only about 4 inches high, so very doable for Simon compared to the big, old buses with stairs 2 feet high! I was always scared he would fall and break his teeth when he went on a field trip. Simon is in grade 6 (off to high school next year, i can't believe it!) and Will in grade 3, already "forgetting" his homework.
I would like to share my new blog with you if you are interested. "Off the LIst" and "On the Eve of Simon's 11th Birthday" are already on there. My therapist just convinced me to "share" it with my husband, who of course became fixated on the first one about him "Spooning Leads to Forking". I guess calling him a "moron" was a tad harsh, but I explained that I needed a word to rhyme with "lawn". You're a poet, you understand!!!
The neighbors across the street (she's a neurology resident trained by Simon's neurologist, but we didn't know that when we moved last November, I just knew she looked really, really familiar) have 2 adopted Vietnemese children. Samuel (5 and just started kidergarten like Jason) and Mia (just turned 3). They are very sweet, and I think of your little guy when I see them.
My message is too long (as usual), so I will continue on another. See ya soon.
hi ruth i am so sorry that i have not gotten back to you, how are you. i am great . finlay feeling well enough bounce back form the sinus infection. my mom rase or still rase me even thought am going to be 41 on 20 of july. my mom is a single mom, i have many phycial challenge but i do let that get me down, i have muscle that were weak, and it took 14 operation to get them strong again, plus i have l earn challenge a, anixty dessprisson. a father who could not cope with a child with phyciall chalenge. that made me what i am . i am gift just like jason is a gift which made me decide that i will be doing the seattle rock and rool half marathon on june 25 plus i will rase close to onte thoussand dollars. kimmy watters
Hi Ruth - We live in Seattle, WA and we have a son 8 years old. We are older parents like you all and just wanted to let you know that this is a great organization for knowledge and support. Do you go to Children's Seattle? We go to Children's Cincinnati and Seattle. Here is my email firstname.lastname@example.org if you have any questions, etc. So sorry about the diagnosis - it is one of the worst things to go through but there is alot of research going on. Be sure to get your son on the registeries and know his mutation. Char Burke
As far as school goes and the other children, Jeni is right, having his teacher well informed is a tremendous help. Does your son see Occupational/Physical Therapists? Athen is part of the Early Intervention Program through the school district. He has a language pathologist, PT, and OT. He sees each once a week, it has made a world of difference and boosts his confidence. His speech has even improved dramatically!
Dear Ruth, I'm glad we connected, it sounds like our sons have a lot in common. Athen initially was being evaluated because of his speech/cognitive delay, we never expected the dr. to ask if we have ever considered that the underlying problem could be a muscle disease. Athen does not jump, he barely runs, falls down regularly, but has an amazing attention to detail, and is very creative. I am so proud of him, he has always had this will about him that makes him mentally strong and determined. However, he gets bored with abc's and 123's lessons. He would much rather play with Play-Doh and set up tracks for his train ors or hot wheels lol :)
I'm trying to respond to all of your posts, hopefully you know which answer goes with which one!
I was very worried about the big kids and Colin at school, too. But it has been so great. Just be sure the teacher knows about his condition, and the OT and PT will help out with that. There is a book you can get from PPMD to give to Jason's teacher and PE teacher (if you want him to participate in PE). Most people, like myself, have never heard of Duchenne muscular dystrophy, so it is a learning process for most.
It may seem hopeless, but our boys can still have girlfriends, I think. I will tell you about the young men I was able to meet in Denver at the PPMD conference. They were doing so well, it gave me a lot of hope. As far as a cure, there are lots being worked on right now. So it really isn't all that far-fetched. I can tell you about that when we talk, too.
Colin is such a sweetie, too- all the DMD boys I have met are. They are very special, I feel. It is sad, but I feel we have to keep our chins up for our kids. We all have lives to lead, especially our boys! Some days are really hard to do that, though.
Ruth, assuming you have been going to Seattle Childrens, have you met Dr. Apkon yet? Did you talk to Dr. Gospe? He may have told you what Jason's deletion is, but Dr. Apkon can tell you, and when/if you meet with the genetic counselor, they can explain it.
I can explain it more when we talk in person or on the phone- it is hard to explain. There is not enough to really predict how things will go with the disease based on the deletion.
Ruth, I know what you mean!! I never knew I could be so resilient and heal mentally so fast. Regarding your question about deletions, I am new to it also. I heard that depending on where the exon is missing, you can sometimes determine the severity of the disease. For example, I learned that exon 44 is the 'high-risk' region of the dystrophin gene and the heart can go weaker sooner. Only three members here that I know of have exon 44 missing. My son has speech and cognitive delay and now I am wondering if it has something to do with the deletion. Anyhow, take care and good to hear from you.