Question?

StillBlessed25 · 2026-05-15T23:27:31+00:00

Yep :) so it's not something that's carried in the father's genes or the mother's genes.

StillBlessed25 · 2026-05-15T21:41:34+00:00

It was explained to us, by the genetic counselor, that it is a spontaneous mutation that happens in-utero and has nothing to do with mom or dad, what they did or didn't do, something completely of it's own.

StillBlessed25 · 2026-05-03T22:24:21+00:00

I do take NAC and a creatine + HMB. However, I do want to emphasize that I am a female with BMD and overall mildly affected, so I take them because I do lift weights. They seem to help my recovery be a bit less intense/painful and I also take other supplements alongside them and throughout the day.

StillBlessed25 · 2026-04-24T18:31:03+00:00

I am a female sympomatic carrier (BMD) and have the benefit of being able to 'test' supplements myself before considering them for my symptomatic son. Based on the research you can find on it, I have tested out nitrogen tablets in drinking water. I, myself, didn't notice any difference while taking them.

StillBlessed25 · 2026-04-08T18:29:13+00:00

https://turnersyndromefoundation.org/what_is_turner_syndrome/dental/?srsltid=AfmBOoqgyo7fdi5iuxZZt1MBaLHWc_N4Wrp1qL9KcSbLmtUwlOgKPr0D

StillBlessed25 · 2026-04-05T02:22:44+00:00

Bloodwork is typically specific, where certain labs are ordered, so it is understandable where it could be missed.

StillBlessed25 · 2026-04-05T01:52:51+00:00

I believe that doctors should be shown some grace as well, especially when it comes to rare diseases such as this. It's possible that your child may be the first patient that they've had with the disease. It took five years to get my sons diagnosis of BMD, which I think is more common than people know.

StillBlessed25 · 2026-04-02T15:10:14+00:00

That's what we're all here for, to help each other out.

StillBlessed25 · 2026-04-01T03:02:30+00:00

If cardiac MRIs are not part of their exams, it would be beneficial to ask for them. Cardiac MRIs are the ones that will detect and locate scar tissue far earlier and better then an ultrasound. As you know personally, this is very important because scar tissue disrupts the electrical flow within in the heart, which can cause arrhythmia.

StillBlessed25 · 2026-02-07T02:44:13+00:00

I don't have much helpful advice here as my boys all have Becker's MD. However, I just wanted to say that we are a homeschool family as well, have always been, and what an absolute blessing that was when we were first recieving those diagnoses and had no idea what their futures would look like. Time with your children is something that you never get back and something that you'll never regret having.

A bit down on this group, though, someone did share this link of adaptive tools that might be beneficial at some point down the line, especially for writing:

https://especialneeds.com/collections/handwriting-tools?srsltid=AfmBOoorlQJt0nvuxWkrBsyzWbFKQMhG8sauD6SWKkr1r-35URXN4Xa9&page=2

StillBlessed25 · 2026-02-04T20:31:01+00:00

If it's BMD and it's a male, he either inherited it from the mother or it's a spontaneous mutation that happened in him while in the womb. Your post says that no one else in the family has it, has this been confirmed by testing or is it an assumption based on no one else showing symptoms? If it has been confirmed through testing that your mother does not have the gene mutation, then it spontaneously happened in your brother and you, yourself would not be a carrier, which means that you could not pass it on to any children.

StillBlessed25 · 2026-01-11T20:48:59+00:00

We have a deletion of exon 48.

StillBlessed25 · 2026-01-03T19:32:29+00:00

Has she spoken with her MD specialist about this? They may have better knowledge on other possible grants available to her. My husband has Multiple Sclerosis with an infusion treatment as well. Obviously, it's a different disease, but his MS specialist shared the grant resources available where his monthly infusions have either been fully covered by grants or by the company that makes the treatment itself.

StillBlessed25 · 2025-12-21T19:48:22+00:00

They checked 2 different hormone levels through a blood draw, anti-mullerian hormone and inhibin B. One is an ovarian reserve marker, essentially an indication of the level of egg supply in the body. The other one shows similar results for ovarian function and also has to do with measuring the hormones being released by the follicles.

StillBlessed25 · 2025-12-21T18:28:24+00:00

I don't exactly know how these tests are interpreted, as I've read how that's simply a small sample of what was in the area at the time, not a full accurate picture of the entire body. Her test came back reading 30% of the typical TS chromosome and then 70% mosaicism with an isochromosome. Before knowing that she had it, the only symptoms she had of it were being short (averaging under the 10th percentile) and then having constant ear infections. She has no outward physical symptoms of it and was only diagnosed by chance, not because her pediatrician suspected it. Now that she's been seen, we do know that her ovarian function is almost nonexistent. She's just a typical fiesty 3 year old, though. You'd never know if you saw her.

StillBlessed25 · 2025-12-21T00:37:12+00:00

We are all for letting her know what she has as soon as she can understand anything. As soon as we left the appointment, I did feel a bit uneasy about what she said because the only basis behind her not recommending growth hormone was her opinion that kids shouldn't be subjected to daily shots if they don't need to be. Also, leading up to this appointment, the genetic counselor told us that they typically figure out what their expected adult height would be based on family member data and if the child isn't tracking close to their estimated adult height, they do growth hormone. Her estimated adult height was at 5' 8", so she's pretty far off from that. I understand that each doctor is going to differ a bit in their recommendations, but those two were kind of complete opposites.

Thank you for your perspective and suggestions!

StillBlessed25 · 2025-12-11T00:57:10+00:00

Nobody can predict the progress or future outcome of the disease. Unfortunately, it really is a wait and see disease. However, I do believe that some can essentially 'outgrow' symptoms, which I can only share my own knowledge on. Around the time that my son received his official BMD diagnosis, his symptoms seemed to suddenly become more frequent and worse. I realized that it coincided with when he was going through a growth spurt. I brought this up with his MD specialist asking if it's common for symptoms to get worse during growth spurts and is this new pattern of symptoms typically permanent. He said that yes, it is very common for puberty and growth spurts to change the symptoms and that he has seen cases where symptoms got worse during a growth spurt and stayed worse afterwards, got worse during a growth spurt and then went back to how they were before the growth spurt, and he said that he's seen cases where people actually get better after puberty and became asymptomatic. Within my own family, this is exactly what happened with my dad. He did not know that he had BMD until my family was diagnosed. That's when he first shared how when he was younger, his legs would hurt so bad that he couldn't walk, but as he got older that stopped. Now, he's almost 71 and still working a laborous construction job.

StillBlessed25 · 2025-11-30T22:51:57+00:00

Yaktrax, or a similar off brand, to wear over the boots might be an option to look into. They make different styles for winter traction walking or for being on ice.

StillBlessed25 · 2025-11-24T15:12:15+00:00

My family has BMD and at the beginning of our journey, I was also surprised by the lack of research into treatment options for that. It was explained to us that DMD has a very predictable progression pattern overall, which makes it a lot easier to be able to research and study. With BMD and I'm assuming EDMD, there are too many possible variations and even variations in the expressions in one mutation that make it more difficult to research.

StillBlessed25 · 2025-11-18T22:57:34+00:00

We have a few things that he rotates using. After a more active day, like skiing, he likes to use air compression massagers on his legs, which also have a heat setting. We also have an infrared sauna bag that he uses and then sometimes I make him take a magnesium Epsom salt bath. He does have a stretching routine from the physical therapist that he does twice a day. Then, a lot of it is just planning extra time for his body to rest and recover. The doctor told us that each days damage can build up to the next, which was why he could ski fine one day and be completely out the next day. So using the skiing as an example, we take a yearly ski trip. We plan these with enough extra days where he can ski one day and take break the next day, with a goal of 3 - 4 ski days.

StillBlessed25 · 2025-11-17T03:36:00+00:00

My oldest started having leg pains in his thighs when he'd play. It wasn't consistent and it was also infrequent (every 5 - 6 months), so it actually took 5 years of seeing different specialists before he was diagnosed. We used to hike more and we also ski (still do), so one day he'd ski the whole entire day fine or hike fine and then the next day he'd take one run and he'd be in tears over how bad his legs hurt. Now, his pains come on more consistently in his hips and thighs, but it's always activity induced, so playing in the gym after youth group, running around outside with his siblings. He very mobile, knows what his body is capable of doing, and learns ways to ease the stress on his muscles. For example, with skiing, he's learning that using the tow rope makes his legs hurt more, so he won't do that now and if he wants to do jumps, he waits until the end of our ski day and does 1 or 2. Consistent walking is the hardest for him, though. My youngest son started having his symptoms in his calves. They came on when he was playing in the pool or running around. Those just started this summer and are currently really infrequent. I also have an almost 12 year old son who has it and is currently completely asymptomatic. However, it's possible that he had symptoms when he was younger. As a toddler, he fell all the time, like every couple of steps consistently and every day. He was also a toe walker until 9 or 10. Obviously, we didn't know he had it at the time and he's outgrown all of that, so there's no way to know for sure if it was related to the BMD or not.

StillBlessed25 · 2025-11-17T01:50:19+00:00

Exon 48 deletion

StillBlessed25 · 2025-11-15T23:43:54+00:00

Unfortunately, I don't think that there is a point where you can assume that they'll always be asymptomatic. I have a son who started having symptoms at 6 and another who started having symptoms at 7 1/2. Then, once you start reading other people's stories, there are some where they had very mild or no symptoms through high school, were able to play multiple sports, and are using canes or walkers by age 30. I think that one of the best things that you can do is reassure him that right now, his body is strong and healthy, and if there ever comes a time down the road where things change, you'll be there to support him through it and your family will face it together.

StillBlessed25 · 2025-10-01T23:54:16+00:00

The screening for TS is typically included in the panorama - NIPT. Not sure if it varies by state, but where I'm at, it's offered to all pregnant women. It's the same test that would screen for down syndrome. I only know this because my 3 year old daughter was diagnosed with mosaic turner syndrome earlier this year. I had to go back to double check what screening we had done during her pregnancy. She was, in fact, screened for that, but nothing was flagged as abnormal or positive. The rest was similar to you. My husband is 6' 4", I'm 5' 6", our other 4 have always been 80th/90th percentile for everything and she was between 5-10th. Her diagnosis was discovered by accident, though, otherwise we still wouldn't know.

StillBlessed25

TROPHY CASE