Hello. My name is Ginger and I have a 4 year old son Jaxx (will be 5 in January) and a son Liam who just turned 2. We are currently waiting genetic tests results for Jaxx. His pre-school teacher noticed he had an awkward run and was having trouble standing on one foot and was a bit slower than the other kids climbing. We honestly didn't think anything about it. We voiced our concerns with our pediatrician and then also with an orthopedic doctor and both said Jaxx was perfectly normal other than being a bit awkward. We finally had our pediatrician refer us to a neurologist who checked his ck levels. They came back around 10,000 and he told us over the phone mind you that he probably had muscular dystrophy and it was most likely the most fatal kind. He offered to refer us to the local MD Clinic here in TN and hung up. I was devastated. My husband and I had struggled for years to get pregnant and both of our sons are true miracles. We finally got in at the MD Clinic and they went over our family history, checked Jaxx out physically and had him do several things and then sent the bloodwork off for genetic testing, which was 3 weeks ago. He mentioned possibly Duchennes, but also possible Beckers considering our son doesn't have large calves and gets up off the floor pretty easily and also can run and jump, but we are stuck waiting. He met all his milestones on time, other than walking a bit late at 17 months and was an early talker. During this time I begged my pediatrician to check my younger sons ck levels even though he is much more physical and active and met all his milestones, even walking much earlier, but we were devastated when he told us they too were elevated although his levels were much less at 3,000. My son was sick at the time and also had to be stuck numerous times for the blood draw, but my heart sank because I'm so scared they both have Duchennes! I have no family history and I'm feeling so lost and confused. I have spent every single day and night since that visit in August reading and researching, but I'm just left feeling anxious and scared!
This is a terrible time for you, and I sympathize.
There's not much you can do but wait to see the results. However, even if it is Duchenne, and I really hope it's not, your entering our community at a time when there are clinical trials happening all over that are giving all of us so much hope. Until the last few years, all we could do was give them steroids and hope for treatments. Today, there are trials for several treatments that are showing fantastic results that should make a long term change for our boys. On top of that, your boys are still young. Even if it is Duchenne, you have time. Your months ahead will be filled with doctor appointments, various therapists, and others. You'll get to know everything you want to about it, but in the meantime, you still have two wonderful children.
Our kids were diagnosed about 6 years ago and are now approaching 10 and 7 years old. Our day to day lives aren't much different that other families with kids that age. They go to school. They play in gym and recess. They go to birthday parties, and we take them to the park to play. They take some pills in the morning, and as our Neurologist recommended, they take some extra vitamins. We do some stretches with them nightly, and we take them to therapy (swimming and horseback riding) once a week. It's comparable to taking kids to hockey or baseball. They don't think of it as therapy, they think of it as riding a horse and going swimming. They love it.
So while it probably won't help, try to breathe deep and relax a little. Even the worst case scenario for you is so much better than it was even a few years ago. Your lives won't change all at once, and the little bit they do is easy to handle if you just focus on the fact that you have to wonderful little boys.
PS: Your kids are adorable!
Thank you so much for responding. It means so much to hear from people that know what I'm going through and how I'm feeling. My boys are my world as I'm sure your understand that completely! The waiting is so hard, but the support from our community and family has helped so much! I know so much has changed just in the last 5 years...it's remarkable. No matter the test results I have now become an official lifetime supporter of MD. These boys deserve to have full lives! So wonderful to hear that your boys are doing well. This news has just been so overwhelming and I can't seem to focus on anything except the future, which I know is not the right thing to be doing! Thank you again for your post and kind words about my boys!
I'm a genetic counselor with PPMD. I'm so glad you found us and reached out through our Community Page. You will be able to connect with many wonderful parents (like Andrew!) who can help guide you through this journey, if it comes to that.
Once you receive the genetic test results, feel free to email (firstname.lastname@example.org) me with any questions. You can also call me at 201-937-1408. I'd be happy to review the report and discuss the results with you.
In the meantime, please try to focus on your two wonderful boys and try to remain positive. Like Andrew said, there is so much hope and excitement in our community now. We have many potential treatments in clinical trials, or soon to be in trials, that will hopefully change the course of the disease for boys diagnosed now.
Ann Martin, MS, CGC, Genetic Counselor and DuchenneConnect Coordinator
Thank you so much Ann. I truly appreciate that!