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PK860 02-12-2013 03:42 PM

collagen vi spectrum disorder
 
Hello,

I am new to this board and am posting for the first time.

I have Bethlem Myopathy (or as my doctors prefer to call it, a collagen vi spectrum disorder). I have had contractures and general muscle weakness my whole life, but was only correctly diagnosed this past year through genetic testing. I do not experience muscle pain or fatigue; there are just some things I cannot do easily, like climb stairs without leaning heavily on a railing or stand from a low chair without leaning on something.

I am curious to learn others' experiences. In addition, my husband and I are planning to start a family (we are undergoing PGD, which should prevent passing along the condition), and I am very interested to learn about other womens' experiences with pregnancy.

Thanks so much!
PK860

nicegrl578 02-18-2013 12:32 PM

Re: collagen vi spectrum disorder
 
PK860,

Welcome! I saw your posting the other day but things have been hectic around here for me. :) Anyways, I'm SO glad you posted on here. I also have Bethlem Myopathy, only clinically diagnosed. Your profile says you are from New York, can I ask how you got your genetic testing? Did you have to pay for it or did insurance cover it? I am having SUCH a hard time. My insurance says they cover it but one of the labs say they won't work through my insurance company because they reimburse to their client (instead of to the lab) so they said they can't risk nonpayment. They said I must pay out of pocket so (to make a long story short lol) I haven't had genetic testing done yet.

I've had contractures my whole life with borderline weak muscles. I do fairly well all in all but I can't over-do it or I'll be down for a couple days (even though I still push myself). I CAN climb stairs without a railing but after so many my legs get extremely weak and then I start having trouble. My main complaint it fatigue and muscle burning-type pain (similar to like when you go to the gym and do reps on a machine...lactic acid?).

I, too, am extremely interested in hearing other women's stories who have gotten pregnant with this.

How much does your condition impact your life? Most people can't tell I have this (except if I show them my contractures) and I can do most things just like everyone else. I would say I'm on the mild side of the spectrum.

I hope to hear back from you soon. So glad to talk to someone else with this.

Melissa

PK860 02-25-2013 07:45 AM

Re: collagen vi spectrum disorder
 
Hi Melissa,

I apologize for being so slow to respond! The past couple of weeks has been absolutely crazy with work and travel. I promise I will be better at writing back in the future.

First off, I'm so glad you replied! It's really nice to be able to discuss Bethlem with someone who also has it.

As for your question about insurance, getting the tests covered can certainly be a challenge. My insurance covered my tests through Athena Diagnostics. How the billing works (whether they bill you or will first work through your insurance) may depend on your insurance policy. You may want to call your insurance company and see if they ever cover it and, if they do, what labs they will work with, and go from there. Alternatively, and this may be your best option, I would highly recommend getting in touch with Dr. Bonnemann at the National Institute of Health. He has devoted his career to studying collagen vi disorders (ie, Bethlem and Ulrich) and is absolutely amazing. I spent two days at NIH working with him and his team; they ran a bunch of tests (including taking a very small skin biopsy to confirm my diagnosis) and gave me so much insight into the state of research on collagen vi disorders. It was an intense two days, but very uplifting to know there are people devoting so much time to promising treatments. Everything, except for travel costs, is covered by NIH, so there is no need to get your insurance involved at all. It could be a great way to get your diagnosis confirmed and also learn a lot about your condition and the medical research surrounding it.

As for your second question, I would say that the condition generally has a minimal impact on my life - except for when it has a huge impact on it. Day to day, I do what I want. I commute to work, I run around the office all day, get together with friends, take long walks in the park, etc. I've also traveled all over the world without too many issues. Still, the condition is a constant presence; a long flight of stairs will slow me down (though will not stop me), and I will never run a marathon (not that I would want to anyway). And sometimes it is a very big deal. Now, for example, my husband and I want to have a child, but I am worried about passing along the condition (which is generally a dominant gene, and so would be passed along 50% of the time). The big fear is that, since it is a spectrum disorder and the same gene can lead to the relatively mild Bethlem or the more severe Ulrich, there is no guarantee that our child would not have the more severe form of the disease. So, although I am otherwise very healthy, we have to do IVF with PGD, which is an amazing process, but certainly no panacea.

Anway, I look forward to chatting with you further about all these issues.

All the best,
PK860

nicegrl578 02-28-2013 12:50 PM

Re: collagen vi spectrum disorder
 
You're totally fine! I'm slow to respond too because I've been really busy at work and with school. I'll try to get better too.

:) I'm really happy to have you to discuss things with too.

Yes, I was referred to Athena diagnotics too but Athena said they won't work with BCBS because it sends the payment to the patient (me) instead of directly to the lab. I feel like I've been outcasted by them but I guess I can understand why they do it (they want to be paid lol). My insurance company WILL pay for the tests. I've already called and given them CPT codes. Wow!! Thank you SOOOOO much for this information on NIH and Dr. Bonnemann...I've never heard of this center or him before. I really appreciate you giving me this information.

I never thought of the condition being worse than my current state for them..as a possibility at least. Does your insurance cover IVF or is this something you pay for out of pocket? I'm just curious about what the future might hold for myself. Are you able to use your eggs and your husband's sperm then (I hope that wasn't too forward a question)? I don't think I want to use a donor's stuff. Also, does IVF give you better odds of not passing on the gene?

--Melissa

PK860 03-04-2013 08:44 AM

Re: collagen vi spectrum disorder
 
Hi again,

I'm glad the information about NIH is helpful! I highly recommend getting in touch, even if you don't visit right away.

I'm very lucky regarding IVF; my insurance is paying for pretty much everything. We are able to use my eggs and my husband's sperm (not too forward at all! when you undergo IVF, you let go of any squeamishness about these things very quickly!). What happens is, I undergo a typical IVF cycle. Then, when the eggs are fertilized, the clinic biopsies a cell from each embryo, which is sent for testing at a genetics lab. The lab tests each cell for the problematic gene, and then tells us which ones are not carriers (this is called PGD). We then can use the non-carrier embryos with far lower risk of passing on the condition. It's pretty amazing, but very stressful. IVF alone has no gaurantees, even if, like me, you have no fertility problems. And then PGD adds a whole extra layer of uncertainty. When it all goes smoothly though, it makes it 97% certain that we will not pass on the gene, which is far better than the 50% chance we'd otherwise have!

Things are improving so quickly with IVF/PGD technology; I'm sure it will be even better when you are at that point.

In your discussions regarding pregnancy with Bethlem, what have you learned? At this point, I'm very curious about how women manage in carrying the baby and delivery.

Thanks!
PK860

koroline 04-16-2013 03:19 PM

Re: collagen vi spectrum disorder
 
Hi!
I am also diagnosed with Bethlem myopahy and very interested to hear about women that have been through a pregnancy with this disease.
Im also interested in hearing about all your experiences living with it.
Hope to hear back from you :)

KB


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