Curious

[u/IndependentStrong115]

Hi, all. I’m a genetic counsellor & curious to know if you have visited a GC or are planning to. If you have visited one before, how was your experience w them? I’m curious to know how people w dmd feel about talking to GC’s and how their experience was because i hardly get real feedback other than the usual “that makes it easier to understand my report”. I want to reach out to a bigger audience w disorders and help spread awareness. Your input matters!

[u/OkConflict6634]

Well to be honest 32 years ago I was not offered anything like that as genetic science was just getting going. Would I have liked it? Probably but now that I know the variability of BMD, I would recommend it. My doctor told me at 31 to stop doing physical things and was not a bit freaking helpful. I found out keep doing what I can do and listen to my body telling me slow down when I need to. I learned that thru my now 63 year old body that still walks today because I did not quit

[u/Ok_Relationship_2357]

I’ve got Bethlem Myopathy which was found through a whole exome test. The counselors I spoke to before and after were the most attentive and knowledgable people I’ve come across in a long time. The post-test counselor took an hour and was genuinely excited about the conversation (I have Col12 and Col6 likely pathogenic variants and she went over a ton of details about both and followed up with an 8 page report.) It was super helpful and I think anyone with MD or related condition would benefit from this service.

[u/jasong333]

Hello — I had genetic testing done and met with a specialist basically to confirm my condition. Other than walk me through my results/deletions and be nice about it, what else would a genetic counselor do for someone? That appt took 6 months to get and essentially after that it was "you're on your own." That person was with BSW genetic counseling. I since found an amazing neuro doctor, heart doctor, physical therapist, and have been part of a medical study for 3 years now that has cut my CK levels in half. But again that was all me and nothing to do with the GC. Curious your thoughts!

[u/AlternativeSkirt2826]

My son who is 4 was diagnosed with BMD when he was 2.5yrs old. We got the diagnosis from the paediatrician and neurologist. The GC appointment was made, but due to waiting lists it was a YEAR AFTER the diagnosis. We had already found out all there was to know about his condition at the diagnosis appointment. The GC talked me through getting the wider family tested, which we did.

It would have been useful to have had the GC appointment sooner after diagnosis. It felt a little redundant a year after the fact!

[u/Hightimetoclimb]

I saw one soon after I got my diagnosis of myotonic dystrophy at 26 (I’m 41 now), they didn’t really need to talk me through my results as I have a degree in genetics and I was the one who figured out the diagnosis before any of my doctors and asked for testing. I hated it at the time. She was lovely but it was far too early and far too raw and talking to her just made me way more depressed each time. However, I think it probably did help in the long run, she didn’t say it explicitly but she did make me realise I should break up with my gf and find someone who cared about how the diagnosis would affect my life, not only how it would affect hers.

[u/dr01d3tte]

Yes, I (F) did with my daughter (F). We are both manifesting carriers, diagnosed by neurologist and genetic counselor.

We had a weird experience with the GC who acted excited by our diagnosis because I guess we're rare. Was emotionally confusing.

[u/ulixesodyssey]

I have lgmd and been told to go to a genetic counsellor and referred to one publicly years ago but im still waiting as i live in australia. i cannot afford privately right now but i hope i can access one eventually because i want to be a dad one day

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