I think carrier screening is crucial to increasing awareness of SMA and in both treating and preventing it. And with SMA carrier prevalence as high as 1 in every 40 people, it is high time that SMA joins Cystic Fibrosis as a routine option for potential parents. I know most families impacted by SMA feel the same way and the Claire Altman Heine Foundation is working diligently to address this very complex issue.
This is not simple. And although the American College of Medical Genetics (ACMG) came out with a clear report stating, “Because SMA is a common genetic disorder in all populations, carrier testing should be offered to ALL couples regardless of race or ethnicity”, the American College of Obstetrics and Gynecology (ACOG) has yet to endorse SMA carrier screening (or any new carrier screening for that matter). And until they do, OBGYNs will continue to be misinformed about prevalence and pass that misinformation on to their patients. That means that every single day a new child (or several) is diagnosed with SMA — a death sentence. (On a side note — although most OBGYNs do not yet talk to potential parents about SMA, many fertility clinics are beginning to make SMA carrier testing part of their regular screening litany prior to any treatment.)
Why is carrier screening important? Simple. Besides the obvious issue of providing prenatal options to couples who learn they are SMA carriers, there are clear studies that prove the earlier breathing and feeding interventions are given to SMA infants, the longer the life expectancy. And, many of the promising potential treatments that involve drug compounds to treat infants with SMA, require pre-symptomatic infants. Yes, PRE-symptomatic. That means with the current system, most newly diagnosed babies will not qualify for treatment because the disease has already started to ravage their little bodies by the time they are diagnosed.
Part of the issue stems from a patent issue. Just like the Breast Cancer genes (BRCA1 and BRCA2), the U.S. Patents and Trademark Office has allowed drug companies to patent many of the genes in our bodies. Yes, I know — ludicrous. What this means for potential parents is that Athena Diagnostics owns the SMA gene and the test that determines if you are a carrier and can, therefore, charge whatever they want. Currently about $800. They also control licensing to other labs, creating a monopoly. This is wrong. And in May, the ACLU filed a lawsuit about this very issue. (It is in process).
So, why do I bring all of this up — because I’m frustrated. I’m frustrated by this bureaucracy. I’m frustrated that this is not an issue of lack of science or technology. I’m frustrated that, basically, it boils down to money!
But, there is a new study that may help pave the way for SMA carrier screening to be offered to more women — and I want to do everything in my power to help! Please help this study by calling Dr. Zadeh – (650)721-1439. There is no blood work needed. There is no cost to you. Dr. Zadeh simply needs access to your medical records — specifically the neck measurement of the fetus done around 10 weeks. Any mother who has or had a child with SMA can be part of this study.
From: Neda Zadeh, M.D. — To the Claire Altman Heine Foundation:
You are invited to participate in a research study on the possible association between Nuchal Translucency (NT) measurement and fetuses affected with Spinal Muscular Atrophy (SMA). Our goal is to determine whether there is an association between increased NT measurements and SMA. If so, diagnostic testing for SMA may be offered to women with increased NT and no evidence of a chromosome abnormality of the fetus. We are only recruiting mothers of children confirmed to have SMA by molecular testing.
Involvement in this study is entirely voluntary and confidential. It will require your permission to access particular medical records for both you and your child. Your participation will not involve invasive procedures such as blood draw or tissue sampling. There will be no monetary compensation for your participation.
If you are interested in participating, or would like to hear more about this study, please contact me at (650)721-1439.
Sincerely
Neda Zadeh, M.D.
Medical Genetics Fellow
Stanford University
Division of Medical Genetics
On another side note, when I called Dr. Zadeh (she’s super nice, by the way) she informed me that Stanford is now urging ALL potential parents to have SMA carrier screening because of the HIGH 1 in 40 rate. Yeah! They are one of the leading medical centers for a reason!!!
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