Last week we got the call from our geneticist saying that Cedars confirmed our diagnosis of Short-rib Polydactyly Syndrome (SRPS). I was really surprised to hear from her so soon, because we were originally told that confirmation would take 3 to 6 months. Finding out that the experts agreed with the diagnosis of SRPS really upset me, which took me by surprise because I thought that I had accepted the original diagnosis. I didn’t realize that I still had hope that they were wrong.
The doctors at Cedars also assigned us a type, Type 1- Saldino-Noonan. The medical literature on SRPS debates the accuracy of typing cases because SRPS has so many possible variations. Right now doctors have identified four types of SRPS, and each case is assigned to one of these sub-categories. However, many of the case studies (which is what most of the medical literature consists of) demonstrate that often the babies diagnosed with SRPS don't fit very well in any of the types. This leads scientists to believe that SRPS might have a spectrum of expression.
If there are indeed types, and SRPS is caused by different variations in whatever gene it effects, then Jeff and I could expect future pregnancies affected by SRPS to work out very similarly to Leah's. We would expect our gene combination to result in many of the same problems next time around. The timeline on the pregnancy might differ, based on the progression of the hydrops, but we would expect to see the rest of her problems repeated.
However, if SRPS has a spectrum of expression then we would have no idea what to expect. Not all babies with SRPS have cystic kidneys that cause oligohydramnios (lack of fluid), in fact often skeletal dysplasia results in hydramnios (an excess of fluid). SRPS babies can have other internal anomalies, as well as cleft lips and palates, ear deformities, and sex reversal. Some babies with SRPS even have a normal number of fingers and toes, although most have extra. No babies with SRPS survive.
We are hoping that they discover that typing is accurate, although it appears that the consensus is leaning towards spectrum. I would rather have a defined set of things to expect should we choose to get pregnant again, especially now that I know how many bad things can happen with SRPS, thanks to all my research.
I mentioned earlier that Cedars gave us our diagnosis more quickly than we expected. Apparently they worked to get it done quickly because they are actively researching SRPS right now. They believe they are very close to identifying the gene, in fact it may be only months before they find it. Jeff and I have been accepted into their research study, so soon we will be signing more consent forms and sending them our blood.
The doctors at Cedars also assigned us a type, Type 1- Saldino-Noonan. The medical literature on SRPS debates the accuracy of typing cases because SRPS has so many possible variations. Right now doctors have identified four types of SRPS, and each case is assigned to one of these sub-categories. However, many of the case studies (which is what most of the medical literature consists of) demonstrate that often the babies diagnosed with SRPS don't fit very well in any of the types. This leads scientists to believe that SRPS might have a spectrum of expression.
If there are indeed types, and SRPS is caused by different variations in whatever gene it effects, then Jeff and I could expect future pregnancies affected by SRPS to work out very similarly to Leah's. We would expect our gene combination to result in many of the same problems next time around. The timeline on the pregnancy might differ, based on the progression of the hydrops, but we would expect to see the rest of her problems repeated.
However, if SRPS has a spectrum of expression then we would have no idea what to expect. Not all babies with SRPS have cystic kidneys that cause oligohydramnios (lack of fluid), in fact often skeletal dysplasia results in hydramnios (an excess of fluid). SRPS babies can have other internal anomalies, as well as cleft lips and palates, ear deformities, and sex reversal. Some babies with SRPS even have a normal number of fingers and toes, although most have extra. No babies with SRPS survive.
We are hoping that they discover that typing is accurate, although it appears that the consensus is leaning towards spectrum. I would rather have a defined set of things to expect should we choose to get pregnant again, especially now that I know how many bad things can happen with SRPS, thanks to all my research.
I mentioned earlier that Cedars gave us our diagnosis more quickly than we expected. Apparently they worked to get it done quickly because they are actively researching SRPS right now. They believe they are very close to identifying the gene, in fact it may be only months before they find it. Jeff and I have been accepted into their research study, so soon we will be signing more consent forms and sending them our blood.
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2 comments:
Hello,
I have been looking for all sorts of information on other people who have had children with SRPS. Me and my partner have lost two babies to it. We also sent over our babies medical records to find out the type. Have you guys had any success at a healthy baby?
My baby is 8 months old and still alive. Normal fingers and toes and they claim he has short rib...something.... Feel free to reach out.
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