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Old 02-25-2013, 07:45 AM   #3
PK860 PK860 is offline
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Join Date: Feb 2013
Location: New York
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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

Last edited by Administrator; 03-01-2013 at 10:52 AM.

 
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