Jeff and I finally got the call from Cedars Sinai confirming that they wanted our DNA for research purposes. While I was talking with our contact there I had a few questions about SRPS. Since Cedars has the most active research on SRPS I thought maybe I could get some straight answers.
Most of what we know about our condition has come from reading case studies on the internet that have been published in medical journals. Although these papers contain some background information and theory, they tend to be very specific to the type of SRPS they are diagnosing and the conditions of the specific baby they examined. They also frequently contradict each other, since groups come up with different theories about SRPS.
I would like to know the incidence rate of the SRPS gene, if the four types of SRPS are actual subtypes or just different expressions within a spectrum, and how many cases of SRPS they receive every year/or have received total. The different case studies provide different answers to all of these questions, so it has been hard to decide what to believe.
I am very curious to know about other families with this condition because I feel very alone.
Our contact at Cedars was not able to give me many answers, although she did direct me to the Luca John Foundation, which was founded by an SRPS family and exists to support research of skeletal dysplasias. Additionally, she did tell me that SRPS might not be one syndrome, but rather a few separate syndromes that look really similar (and hence have been classified together) but that may be caused by completely different genetic mutations, and that these mutations probably don’t interact together. If this is true, and the different subtypes of SRPS are different, then the incidence rate for SRPS (which would have to be divided out among the types) would be even lower, and Jeff and I would be even bigger freaks of nature than originally thought. She couldn’t tell me the number of cases they have or how many they receive each year, ostensibly because of a computer problem. I felt a little irritated that she didn’t offer to get back to me when her computer started working again, but I got the distinct impression that she was annoyed by my questions. That makes me pretty mad, because I am giving them my DNA. They could at least reciprocate with a little information.
Update: Since writing the above post I have been in contact with a few other SRPS families! We are so excited about this development. I will post about it soon.
Most of what we know about our condition has come from reading case studies on the internet that have been published in medical journals. Although these papers contain some background information and theory, they tend to be very specific to the type of SRPS they are diagnosing and the conditions of the specific baby they examined. They also frequently contradict each other, since groups come up with different theories about SRPS.
I would like to know the incidence rate of the SRPS gene, if the four types of SRPS are actual subtypes or just different expressions within a spectrum, and how many cases of SRPS they receive every year/or have received total. The different case studies provide different answers to all of these questions, so it has been hard to decide what to believe.
I am very curious to know about other families with this condition because I feel very alone.
Our contact at Cedars was not able to give me many answers, although she did direct me to the Luca John Foundation, which was founded by an SRPS family and exists to support research of skeletal dysplasias. Additionally, she did tell me that SRPS might not be one syndrome, but rather a few separate syndromes that look really similar (and hence have been classified together) but that may be caused by completely different genetic mutations, and that these mutations probably don’t interact together. If this is true, and the different subtypes of SRPS are different, then the incidence rate for SRPS (which would have to be divided out among the types) would be even lower, and Jeff and I would be even bigger freaks of nature than originally thought. She couldn’t tell me the number of cases they have or how many they receive each year, ostensibly because of a computer problem. I felt a little irritated that she didn’t offer to get back to me when her computer started working again, but I got the distinct impression that she was annoyed by my questions. That makes me pretty mad, because I am giving them my DNA. They could at least reciprocate with a little information.
Update: Since writing the above post I have been in contact with a few other SRPS families! We are so excited about this development. I will post about it soon.
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1 comment:
I am sorry she gave you such a hard time but am so excited about the connection with the other families.
Love you
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