Support
The world of chronic illness is an interesting one. I've mentioned before that I am part of an email support group. I reported this morning the results of the kids bone marrow biopsy and the other news of abnormal telomere's and pancreas issues on the 'list'. It's a good place where people understand the crazy parts, the discouraging parts, the sad parts and can celebrate the joys and milestones.
Within 30 minutes of my post, I had two phone calls from mom's who are in the exact same 'limbo' we are in and whose children have also tested positive for abnormally short telomeres. One lady even called me while she was boarding a plane. She happens to be the Vice President of the Dyskeratosis Congenita (DC) Outreach Registry. We were able to talk for about 15 minutes but she crammed a lot of information into that short amount of time.
Her daughter hasn't had the genetic testing of the disease but is being treated as a clinical DC patient because of the signs and symptoms she has. Her daughter was diagnosed by the same doctor that we see in Seattle only this family lives in Texas! Once again, there is no doubt in my mind that finding Dr. Shimamura was no coincidence but rather a miracle. Her daughter is the 56th person to be diagnosed in the United States. Dyskeratosis Congenita is an 'Orphan' disease because it is so rare, only one in 2 million births. There are less than 200 DC patients in the world!
When I stop to consider the odds, I think it's impossible that all three of my kids have this. On the other hand, when I read the symptoms of it, I think it's impossible that they don't have it! It's so confusing and discouraging. The bottom line is, the kids definitely fall somewhere between SDS, Mito and DC and who knows what else. There are only a handful of diseases with shortened Telomeres so I feel we are getting close.
So, now comes the hard part. I have to find a way to get the genetic tests financed that our doctor wants in order to move ahead. If we don't do the genetic testing, we remain stuck, just putting out fires instead of being proactive. One of the mom's who called me today told me about a program at the National Institute of Health in Bethesda that will pay for the genetic testing if we can somehow be invited into their study of DC. Incidently, I met the Hematologist at NIH 11 years ago. She is a world famous Hematologist and when we met, she was so intrigued with my kids, she invited us to be in her Bone Marrow Failure Studies so we have been with her for all these years, sending blood samples every so often and filling out questionaires yearly and phone interviews periodically. Dr. Alter at NIH is also heading up the DC study and is good friends with Dr. Shimamura in Seattle so this may just work out in our favor. I understand though that we would be required to travel to Maryland if we are accepted unless we can work it all out through Seattle.
No rest for the weary...I wonder what it is going to feel like when a doctor looks me in the eye and says with 100% confidence, "Your children have...."
Within 30 minutes of my post, I had two phone calls from mom's who are in the exact same 'limbo' we are in and whose children have also tested positive for abnormally short telomeres. One lady even called me while she was boarding a plane. She happens to be the Vice President of the Dyskeratosis Congenita (DC) Outreach Registry. We were able to talk for about 15 minutes but she crammed a lot of information into that short amount of time.
Her daughter hasn't had the genetic testing of the disease but is being treated as a clinical DC patient because of the signs and symptoms she has. Her daughter was diagnosed by the same doctor that we see in Seattle only this family lives in Texas! Once again, there is no doubt in my mind that finding Dr. Shimamura was no coincidence but rather a miracle. Her daughter is the 56th person to be diagnosed in the United States. Dyskeratosis Congenita is an 'Orphan' disease because it is so rare, only one in 2 million births. There are less than 200 DC patients in the world!
When I stop to consider the odds, I think it's impossible that all three of my kids have this. On the other hand, when I read the symptoms of it, I think it's impossible that they don't have it! It's so confusing and discouraging. The bottom line is, the kids definitely fall somewhere between SDS, Mito and DC and who knows what else. There are only a handful of diseases with shortened Telomeres so I feel we are getting close.
So, now comes the hard part. I have to find a way to get the genetic tests financed that our doctor wants in order to move ahead. If we don't do the genetic testing, we remain stuck, just putting out fires instead of being proactive. One of the mom's who called me today told me about a program at the National Institute of Health in Bethesda that will pay for the genetic testing if we can somehow be invited into their study of DC. Incidently, I met the Hematologist at NIH 11 years ago. She is a world famous Hematologist and when we met, she was so intrigued with my kids, she invited us to be in her Bone Marrow Failure Studies so we have been with her for all these years, sending blood samples every so often and filling out questionaires yearly and phone interviews periodically. Dr. Alter at NIH is also heading up the DC study and is good friends with Dr. Shimamura in Seattle so this may just work out in our favor. I understand though that we would be required to travel to Maryland if we are accepted unless we can work it all out through Seattle.
No rest for the weary...I wonder what it is going to feel like when a doctor looks me in the eye and says with 100% confidence, "Your children have...."
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