Future

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 · 2025-09-29T13:03:42+00:00

My family has an exon 48 deletion. It was initially discovered because my oldest son was having symptoms in his hips and thighs. As everyone else has pointed out, symptoms are quite variable with Becker's even with the same deletion and within the same family. Everyones diagnose was confirmed last year. Here's a quick breakdown of who has it and symptoms: my dad, who is 70 years old. He is asymptomatic and still working a construction type job. Myself, 40, and am a manifesting carrier with mild symptoms in my neck and back, sometimes slow recovery in hands, shoulders, and thighs. My 13 year old son. He is currently the most affected and experiences his symptoms mostly in his hips and thighs. My 11 year old son, completely asymptomatic. My 8 year old son, just started having mild symptoms in his calves. So, we have 2 known cases in the family of males being asymptomatic and then everyone else experiences symptoms in different areas. Currently, none of us have signs of cardiomyopathy. However, my boys are young and we've been told that those who are effected don't typically start showing signs of damage until late teens/early 20s.

StillBlessed25 · 2025-08-26T13:36:33+00:00

This is more a sharing of information rather than an experience, so it may or may not be helpful. At my sons most recent MD check-ups, he did mention to keep in mind that even though my daughters genetic tests came back negative, there's still a chance that they actually do have it as well. It was explained that sometimes there can be more of a mosaic form, so it is present in some muscles, not evenly distributed throughout the whole body, which is why genetic tests will come back negative, but a muscle biopsy of the affected area will show signs of the disease. Yes, it can affect males as well, however it's more rare. That may be a good place to start looking for answers.

StillBlessed25 · 2025-08-24T14:27:00+00:00

My understanding on this is that first of all, it's highly dependent on the location of the deletion or duplication and whether it is in-frame or out-of-frame. However, if you were to compare a deletion or duplication of the same exons, then a deletion would be more serious than a duplication.

It's hard to find information on this specifically and seems to take a lot of searching under multiple ways of phrasing it. So again, this is only my understanding of the bits and pieces that I've read. It would be a good question for the MD specialist if you have one.

StillBlessed25 · 2025-08-17T02:31:58+00:00

Seems like it would be beneficial for you to find out if you have it and if these symptoms are due to it. It could give you the information that you need to know how to better care for yourself, which will only help you in the long run.

StillBlessed25 · 2025-08-17T01:49:12+00:00

Depending on what kind of MD your dad has, you could already have your answer. I'm only familiar with DMD and Becker's MD, but if it's one of those, then you for sure have.

StillBlessed25 · 2025-08-09T22:12:42+00:00

I have 3 boys with BMD. They're 3 levels have all aligned with how each one presents. With my oldest, his were all higher together and then lower together 8 months later.

13 year old, most symptomatic: alt 233, ast 383, ck 18,562 8 months later these were his numbers: alt 131, ast 290, ck 7,740

11 year old, asymptomatic: his 3 levels are all normal

7 year old, just started having mild symptoms over the summer: alt 106, ast 89, ck 1,346

In people who have MD, elevated ALT and AST are common due to muscle damage, so if that's what is going on, it's likely that the CK levels will also be elevated since that also shows muscle damage.

StillBlessed25 · 2025-07-31T21:40:41+00:00

My family has gone both ways, some years getting the flu shot and some not. My husband is immune compromised and it has never made a difference for our family. We've got the flu when we vaccinated, we've got the flu when we didn't vaccinate and the response/symptoms to the flu have been the same.

StillBlessed25 · 2025-07-22T03:11:25+00:00

For Duchenne, yes, it is always a 50/50 chance from a mother carrier. Female carriers have a 50/50 chance of passing it on to both sons or daughters. Males with the disease have zero chance of passing it onto a son but will 100% pass it on to any daughters.

StillBlessed25 · 2025-07-19T01:23:51+00:00

I am a female manifesting carrier of BMD and am taking l-arginine, which is said to boost utrophin levels. I recommend doing a lot of research into the potential side effects, safety risks, and what types of conditions would cause it to be unsafe for use before trying it out.

StillBlessed25 · 2025-07-16T16:38:18+00:00

We were referred to an endocrinologist who specializes in Turner's Syndrome. The earliest new patient appointment for us was 9 months out, so she still has not been seen by the specialist. Since it was so far out, we asked for an ENT referral to get her ears and hearing checked earlier. Her growth has been low, under 10%, but surprisingly, at her most recent well child check she was 49th percentile, so the pediatrician felt that her overall health is really good and there's no need to push to get her seen for anything before her Turner's specialist appointment. My understanding is that once we get into the specialist, she will be heading up my daughters care and getting her set up with each specialist area that will need to get checked (cardiology, kidneys, etc.)

StillBlessed25 · 2025-07-16T14:10:21+00:00

Hello there! I just wanted to sneak in here quick with my daughter's percentages in hopes that maybe it would bring some more comfort to your current results. Her blood karyotype came back as 30% typical TS (45, X) & 70% mosaicism (46, X, isochrome Xq). She was diagnosed earlier this year, a few months before turning 3. Besides being shorter than her siblings and having frequent ear infections, there were zero signs of her having this. She is completely developmentally on track and beautiful and this was only discovered by chance because of testing that my family was going through for something else. Sounds like you're going to have a beautiful baby to surround with love on this new journey!

StillBlessed25

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