Author Archives: estierose

Egg Freezing-Now a Job Perk?

8886048502_44698ab556_zBig companies, such as Apple and Facebook, have recently announced that their female employees would be offered free “egg freezing.” The idea behind the process of egg freezing, or oocyte cryopreservation, is that a woman who is not ready to have children may freeze her eggs and later re-implant them in her uterus via an in vitro-fertilization process when she is ready for children.  Freezing eggs puts a halt on their biological activity and, literally, ‘freezes them in time.’

A woman’s eggs stay with her from pre-birth until menopause, so just like we get older, so do our eggs. Our eggs don’t gray and wrinkle, but they certainly age; and the aging process may cause serious issues in the chromosomes of the eggs. You have probably heard that the risk for Down syndrome (a condition caused by having an extra chromosome 21) is increased in older moms. That is because their older eggs are more prone to having errors in meiosis, the process of chromosome division.

The cost of egg freezing nears $10,000 for every round, plus $500 or more annually for storage. It seems like these large companies are finding that losing their valuable employees to maternity leave and family time is detrimental, and that women should feel encouraged to plan out the lives they want if they want to get set on their careers first. Not surprisingly, there has been a lot of buzz around these announcements from Apple and Facebook, ranging from full support to skepticism of using egg freezing for non-medical purposes (one particular piece I enjoyed reading was an op-ed in the New York Times from a few weeks ago).

While career building may be a valid motive to freeze eggs, there are other reasons a woman may consider this process. I have been asked whether egg freezing would be a good option from some women who have not yet met the man with whom they want to build a family, in case they do not get a chance to start their family until they are older. There are also medical reasons a woman may decide to freeze her eggs. For example, women who undergo cancer treatment which may be toxic to their eggs may decide to preserve their eggs before they begin their therapy.  In addition, women facing certain genetic conditions that lead to premature failure of ovarian function may also choose to freeze their eggs–some examples include those with Turner syndrome or fragile X premutation carriers. In addition, women who are BRCA carriers may opt to remove their ovaries to reduce their risk of developing breast and ovarian cancer, but may not be ready to have children. These women could freeze their eggs for a later pregnancy.

Of course I also need to mention that older women who are having babies (whether or not the eggs have been cryopreserved) tend to have older spouses. Because of the large number of cell divisions in spermatogenesis, the process of sperm development, the mutation rate in certain genes is higher in men than women, and increases with age. So we are finding that certain genetic diseases are more common in babies with older dads as well. Such diseases include certain forms of dwarfism, some types of craniofacial disorders, and some more complex diseases such as autism, schizophrenia and cancers.

The American Society for Reproductive Medicine does not recommend the use of egg freezing for purposes of delaying childbearing, since data on safety, the efficacy, and the cost-effectiveness, and emotional risks are insufficient. They say that “marketing this technology for the purpose of deferring childbearing may give women false hope and encourage women to delay childbearing.” Nevertheless, egg freezing for career reasons is a reality. But should it be?

BRCA testing for all Jews? BRCA testing for everyone?

news 2Co-written by PJGH genetic counselors Estie Rose and Chani Wiesman

This week was a very busy and exciting week for us at the Program for Jewish Genetic Health (PJGH)!  Late last week, the New York Times published two articles describing the findings and ramifications of published research conducted by renowned geneticists in the US and Israel. The first article describes a study done by Dr. Ephrat Levy-Lahad at Shaare Zedek hospital, who concluded that ALL Ashkenazi (Eastern European) Jewish individuals should be tested for BRCA mutations—not just those individuals with family histories of breast and/or ovarian cancers. Since about 1 in 40 Ashkenazis will carry a cancer-predisposing BRCA mutation, genetic testing was suggested for everyone at a young age.  Then, in case a mutation is present, it is better to find out at a preventable stage.

The second article quotes the scientist who discovered BRCA’s association with cancer and who partnered on the Israeli study, Dr. Mary –Claire King. Dr. King’s statements took this one step further, as she called for screening all American woman 30 or older regardless of race or ethnic background—not just Ashkenazis!

Our inboxes have been flooded and the phones have been ringing all week with inquires about these articles.  So how do we feel about these statements? If you have been listening to the news, the media made it sound like these are new ‘guidelines’ or ‘recommendations,’ but we prefer the word ‘opinions.’ These opinions come from a good place, where people want to prevent illness, but they are also somewhat controversial and may be considered by some to be extreme.

For starters, we think it is important to take a step back and spell out what’s so important about BRCA in the Jewish community.  After that, we will get to the “PJGH response” to these studies.

We have spoken about BRCA many (many, many!) times in this blog, but we never actually told you why it is related to the Jewish community (our oversight!). BRCA1 and BRCA2 mutations (mistakes in the genes) cause a significantly increased risk for breast and ovarian cancer, as well as some other cancers.  Just like there are certain mutations for other diseases that are more common in the Ashkenazi Jewish population, there are three specific mutations in the BRCA genes that are more commonly found in the Ashkenazi Jewish population. Numerous studies have found that between 1 in 40 and 1 in 100 Ashkenazi Jews will carry one of those three BRCA mutations and are therefore likely at an increased risk for cancer. If someone is Ashkenazi Jewish and has a BRCA mutation, the vast majority of the time, it is one of those three mutations. Furthermore, that 1 in 40 – 1 in 100 carrier frequency holds true regardless of personal or family history of cancer. So if you take any random group of 100 Ashkenazi Jews, 1 or 2 of them is likely to carry a BRCA mutation, even if he/she doesn’t have a personal or family history of cancer.

This is a big deal, and it’s a huge community issue.

So what is our current response?

Genetic Testing at Birth-Is it too Early?

 

UntitledI recently saw a 50-something year old man for a cancer genetic counseling session. When we got to the concept that mutations in the BRCA genes may increase someone’s risk to develop breast and/or ovarian cancer, he was amazed. He said to me, “If the technology exists for someone to know his or her genetic risk to develop cancer, and there may be something to do to reduce these risks, wouldn’t it make sense to learn this information when someone is young?”

I was pleased to hear this question since it proved to me that he was really paying attention, and although he didn’t realize it, he touched on an issue which is very timely in the world of genetics and ethics.  The issue of whole genome sequencing (reading through all of someone’s genes to look for variation) is a hot topic in genetics. Currently, the reasons we might order any genetic testing are if there is an underlying medical issue for the individual, a family history of an issue, or if someone is from an ethnic group that has known founder mutations for particular diseases. When we do this sort of testing, we are looking for relevant mutations in one or more genes or chromosomes.

But recently, scientists have introduced the notion of testing the entire genome of all newborns-even those who are seemingly healthy. (Note: I am not talking about the Newborn Screening panel—AKA “heel stick test” or “PKU test”—which is mandatory in the United States, and tests for about 30-55 diseases, depending on the state).  And to make things sound even more exciting, the first baby to ever have his genome sequenced prenatally was born last month in California!

Back in November 2012, Nicole blogged about her discomfort of whole genome testing, as opposed to targeting the genetic testing to the medical issue at hand.  When we do whole genome sequencing, we are going to learn about that person’s traits, carrier status, predispositions to childhood and adult-onset disease,  and we may even diagnose a disease, possibly presymptomatically (ie- before the person even starts exhibiting symptoms). Some might think that all this information is great, since it’s better to know now than to be surprised when it happens.

Others believe that this type of testing for newborns is unethical. Here are a couple of reasons why:

1-The genes belong to the child, not the parents. Shouldn’t it be up to that child to make this decision?

2- Say we learn that the child is genetically predisposed to having Parkinson’s disease. This most likely will not happen for another 50 or so years, and it may never happen at all.  Does he want to be that person who is just waiting to get sick? This may cause anxiety, stigma, and may change the way his family and friends perceives him.

3- If someone learns from a young age that he has a genetic predisposition to a condition, he may ignore the other (non-genetic) risk factors. For example, let’s say someone learns that he has a genetic variant that leads to a high chance of developing diabetes. He may not try to eat healthy foods or exercise or go for checkups because he believes that his genes alone will determine his risk for diabetes. This is what we call “genetic determinism.”

I told my patient that he did not realize that he had opened up a can of worms and that we would need a whole new session just to discuss his question. But he definitely got me thinking.

 

Genetics and Athletics

heart basketballLast week while my husband and I watched the NBA draft, we were touched to see 20 year old Isaiah Austin receive a ceremonial pick by the NBA. Austin is a star center for Baylor’s basketball team and has been projected to be a first round pick in the next NBA draft.  When he went for his routine physical, his electrocardiogram was abnormal, and Austin was sent for a more comprehensive cardiac workup. Soon after, he was diagnosed with the genetic condition known as Marfan syndrome and was advised by his doctors to quit playing competitive basketball.

At 7’1”, Austin’s height makes him an asset to any basketball team, but his height also is telling of his condition. Marfan syndrome is a connective tissue disorder.  Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, such as the heart, blood vessels, bones, joints, and eyes. The classic “Marfanoid habitus” is someone who is very tall and thin, with long fingers, flexible joints, scoliosis, and a chest that sinks in. Some features of Marfan features, such as aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body), can be life-threatening. So while some signs of Marfan are easy to see, some affected individuals may have the disease and not even know. Those affected individuals are at highest risk to have sudden cardiac death (SCD), since they might not be seeing their doctors or reducing their risks of aortic dissection or lung collapse.

Each year, SCD claims more than 300,000 lives in the United States. Up to 10% of cases of sudden cardiac death in general, and 25% of cases involving a family history, are thought to have a hereditary basis. Aside from Marfan, there are other conditions which can include SCD—some of these conditions include Long QT, Brugada syndrome and hypertrophic cardiomyopathy. Most inherited arrhythmia conditions such as those mentioned have an autosomal dominant inheritance pattern. If someone has it, there is a 50% chance he or she will pass it on to each child.  For many of the SCD diseases, genetic testing can help establish a diagnosis and may serve as a tool to screen family members.  Medications, medical surveillance, and reducing physical activity can save lives. As with Austin, knowing your risk before something devastating happens is key.

Austin was tested for Marfan because he had an abnormal screening test, but most athletes do not engage in genetic testing.  Sports-related genetic testing is not widely used, but is available. While many professional sports organizations have shown interest in having players screened for conditions such as sickle cell disease and hypertrophic cardiomyopathy, GINA issues arise and players’ genetic information is no longer legally accessible to their employers.  Recently, more than a dozen companies have started  to offer sports-related personal genomics tests and services. The “DNAthlete: Athletic Profile” provides consumers with genetic information related to endurance, muscle mass and strength, and grip strength. While the clinical utility of this information is up for debate, many athletes may want this information so they can integrate it into their training regimens.

“I have a whole life ahead of me,” Austin said. “I’m not going to sit here and I’m not going to sulk about not being able to play basketball anymore, because I can still be involved with the game somehow or some way.”

When asked what’s next, Austin responded “Everything.”  And that is exactly why he was the NBA’s most valuable draft pick.

Updating Your Carrier Screening

update carrier screening croppedWhen I was at a recent sisterhood event at my synagogue, a friend of mine approached me to ask if she should “do her genetic testing again” since she and her husband were first tested in 2007 and have not been tested since. I answered with an emphatic “YES!” I appreciated that she knew to even ask this question, but our conversation got me thinking. Do other people know that new diseases are regularly being added to the Ashkenazi  Jewish panel?

The best time to get screened is well before a pregnancy. Since the 1980s when Tay-Sachs testing was introduced to the Ashkenazi Jewish world, there has been much progress in the realm of genetic testing. Currently, we screen for about 18 diseases that are common in this population. And testing for Sephardi and Mizrahi Jews as well as Jews of mixed ancestry has become more commonplace. But someone who was tested in 2001, for example, and was negative, is not “in the clear” since many more diseases have been added to the panel since then.

Many people ask me, “If I am already married, why should I bother updating my testing? It will only make me more anxious as I continue having children.” My response is that I’d rather find out that you are both carriers of the same genetic disorder by doing a blood test, rather than finding out after you have an affected child. There are other options besides for stopping childbearing, rolling the dice with each pregnancy, and breaking up! Other family planning options include testing the fetus early in the pregnancy, using an egg or sperm donor, and adoption. In-vitro fertilization with pre-implantation genetic diagnosis (PGD) is another great alternative for couples who want to know their child’s genetic status before it is even in-utero. By doing genetic testing this early on, a couple will avoid getting pregnant with an affected embryo and will circumvent any ethical or issues related to Jewish law that may arise.  Robin’s Story, a short public service announcement on MyJewishGeneticHealth.com, will open your eyes as to the importance of updating your screening and learning your options. And be sure to register to watch Dr. Lieman’s longer webinar about PGD and Chani’s lesson about preconception carrier screening!

Finally, while testing for diseases that are common in specific populations is currently recommended by professional genetics groups, there are labs who are now offering screening for many more diseases. These expanded carrier screening panels claim to be “one size fits all” and are marketed to all ethnicities, but a negative result on a broader screening does not fully eliminate the risk of having a child affected with one of the tested disorders, it only reduces the risk. Furthermore, expanded carrier screening does not cover all diseases that could affect offspring.

I wish I could go into every synagogue, preschool, sisterhood, and other places where women in their childbearing years hang out to remind them to update their carrier screening! But since that is impossible, please take the time to mention it to your family and friends and help me spread the message. Let’s avoid heartache together!

Your Genes are not (always) your Destiny

crystal ball It seems that over the course of any medical show series on TV, there will inevitably be a character who has     been tested for the genetic condition called Huntington’s disease (HD). I’ve seen it a million times between        ER, Grey’s Anatomy, and House, but recently I have even seen it even in the non-hospital setting on           Breaking Bad. In fact, when I googled it, I even came across a Wikipedia page called “List of Huntington’s     disease media depictions.”

So why is Huntington’s such an appealing topic in the media? Well, for starters the progression of the disease is so steep, that it is startling.Huntington’s is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems starting at around age 40. Life expectancy in HD is generally around 20 years following the onset of visible symptoms and there is no treatment or cure. When I was in grad school, I visited the Huntington’s Disease Unit at Terence Cardinal Cooke Health Care Center. I remember meeting a woman who was in her 50s who used to be a law librarian, and also a 40-something year old man who was a former judge in the New York State Supreme Court.Both were obviously very intelligent individuals, but were now experiencing severe muscle jerks called chorea, dementia, and disturbed behavior, among many other neurological problems. I remember leaving the unit that day and calling my husband on my way out to warn him that I would be in a depressed mood.

Huntington’s disease is “100%, or completely, penetrant,” which means that people who have the genetic mutation at birth will definitely develop the disease to some degree at some point in their lives. The interesting thing is that these people are not surprised when it happens to them, because only people who have affected parents will be affected. Affected individuals have a 50% risk of passing the disease mutation to each of their children. So while not all children of affected individuals will inherit the disease, if you do have Huntington’s, you have inevitably seen one of your parents suffer from it before. There are many ethical issues that arise in the realm of genetic testing in Huntington’s families–issues such as when to test an individual, determining the psychological well-being of the individual prior to testing, disclosing this information to partners, and doing prenatal diagnosis with the possibility of selective abortion, to name a few. The combination of the disease course, severity, and these ethical issues obviously makes for good plot lines.

Luckily, most genetic diseases are not 100% penetrant. Individuals who carry the genetic mutation for diseases with “incomplete, or reduced, penetrance” are not guaranteed to develop the disease. Incomplete penetrance often is seen with familial cancer syndromes. For example, many people with a mutation in the BRCA1 or BRCA2 gene will develop breast or ovarian cancer during their lifetime, but some people will not. Individuals with a mutation in a mismatch repair gene associated with Lynch syndrome are likely to develop colon cancer and other GI-related cancers, but this is not definite. Doctors cannot predict which people with these mutations will develop cancer or when the tumors will develop. These familial cancers also may appear to “skip” generations due to incomplete penetrance.

While there is, at this time, nothing that can be done to prevent Huntington’s disease, the good news is that individuals with BRCA or Lynch-related mutations can take actions to reduce their risk of developing cancer.  Carriers may consider risk-reducing surgeries: female BRCA carriers may have mastectomies and/or oophorectomies, and some many individuals with Lynch syndrome will have colonic resections. Additionally, these carriers will increase surveillance with more rigorous screenings (think mammograms and colonoscopies), and many will try to alter their lifestyle with diet and exercise.

Isn’t it encouraging to know that all the stuff you’ve inherited from your parents (the good and the bad) is  not necessarily your fate?

Philip’s Dad, an Inspiration

Last week, my neighbor invited me over to meet his friend, Philip, and Philip’s dad.  Philip is a 26 year old man who has familial dysautonomia (FD). FD is a genetic disease that affects the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Many individuals with FD have learning disabilities and many are wheelchair-bound. FD is one of the most common genetic conditions in the Ashkenazi Jewish population, with a carrier frequency of about 1 in 30. Today, Ashkenazi Jews around the world are routinely screened for mutations in the FD gene–among many other diseases–through genetics clinics and private physicians’ offices (click here for screening resources offered by our Program for Jewish Genetic Health). Without the ability to identify and counsel carriers, the disease’s incidence among Ashkenazi babies would be 1 in 3,600!

Philip and his father greeted me with smiles and were eager to talk with me about one of Philip’s fascinations and expertises, the Jewish calendar. Since I am not too familiar with the nuances of the calendar and lunar holidays, we ended up reminiscing about popular Nickelodeon game shows from the 1990s (which was a lot of fun!). Philip’s father stuck around for this conversation. I was surprised since he could have taken a much-needed break to schmooze with the adults in the house. I had a great time talking to Philip—but I also spent a lot of time watching his father.

I thought I would share a few things I learned from Philip’s father, as well as from other parents of kids with genetic diseases and other special needs. These may seem obvious, but I find these to be very helpful in my own day-to-day experiences:

1)      If you try hard enough, you can become a more patient person. Even though it was difficult for Philip to tell long stories, his father would allow him to go at his own pace instead of interjecting.This is definitely the hardest lesson for me to incorporate into my life!

2)      Try to focus on what is, not what is not. When I first saw Philip, I saw a man with difficulties and disabilities, but I noticed that his dad simply viewed him as a son. Maybe I need to change how I perceive things.

3)      Try to turn your difficult situations into something positive for others.  Philip’s dad runs a local fundraiser for FD awareness every year in the community and runs marathons to support finding cures this condition!  And many of the support organizations out there were founded by parents of affected children who felt the need to help other parents who were going through the same experience.

4) Remember to laugh sometimes. I can not count how many times Philip and his dad joked around and laughed about silly things. I sensed that they both try not to focus on the obvious medical issues, but to look at the positive and fun things about life.

Everyone copes with difficulties in different ways, and what I saw from Philip’s dad in that 1 hour does not necessarily reflect how he always behaves. Also, there is no one “right way” when it comes to dealing with individuals with special needs. But from that one 1 hour, I was inspired.

Here are some good resources if you or someone you know would like a place to turn to:

Chai Lifeline, offering a number of services for Jewish children with life threatening illness

Jewish Genetic Disease Consortium, an organization of many smaller, more disease-specific, groups

Ramah Special Needs Programs, providing a range of camping experiences for children with special needs

Yachad, The National Jewish Council for Disabilities, dedicated to addressing the needs of all Jewish individuals with disabilities and ensuring their inclusion in every aspect of Jewish life

The Friendship Circle,  a Jewish organization for children with special needs, with over 79 locations worldwide

“Far from the Tree”, a book by Andrew Solomon telling stories of parents who not only learn to deal with their exceptional children, but also find profound meaning in doing so

Blogger’s note: I wrote this blog about 2 months ago, but never ended up posting it. Philip passed away last week, one week after his 27th birthday. Philip was an inspiration to me and our community.  May God comfort his family , together with all the mourners of Zion and Jerusalem.

Family Health Histories: We All Have Them

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Last Thanksgiving, Chani wrote a great blog post to remind people that family health history is one of the best tools that we have to assess genetic risks for our patients, and to encourage our readers to discuss this topic over the holidays. This Thanksgiving, I am thinking about this some more and I would like to add another element to this theme.

Recently, I have met with several families with mental health issues. Many of them are particularly worried about the stigma that this can have on the affected individual. But beyond that, I am finding that the siblings of those individuals are concerned about their “marriageability.” These siblings worry that they may not be desirable for fear of developing mental illness themselves and of passing on the mental health problem to the next generation.

It is important to note that all forms of mental illness are multifactorial. This means that there is some genetic component that can actually involve multiple genes, as well as some environmental or situational component to trigger its onset. This is why it is not surprising to see that mental illness will ‘run in a family,’ but that not everyone will be affected.  So if a brother has mental illness, each of his siblings and his nieces and nephews will have a higher-than-average risk to develop the same or a related condition, but this is not definite.

Dr. Goldwaser (one of our fantastic genetics attendings) once said something very smart and sensitive that also has been touched on in another blog from our program and at some of our events. We all have something in our families—whether it is mental illness, predisposition to cancer, or more common conditions like diabetes or hypertension. And some of us don’t even realize we have things going on. But the fact is that we are all carriers of about 5-10 autosomal recessive diseases! So while some things may be more public and seem more apparent than others, others are less conspicuous. But they are still there. Nobody is exempt.

I am finding that mental health issues are particularly taboo. People are so scared to talk about this, and even more so, to get involved with families who are affected. This is not unreasonable—we all know which life challenges we think we can handle and which ones we cannot. But I want to urge you this Thanksgiving not only to be open about health history, but to be sensitive to the fact that if you dig deep enough, you will be sure to find something genetic in just about any family. Why should mental health issues be more disqualifying in the realm of marriage compatibility than any other disease?

 

The “Other” Genetic Test

Fragile-X-infographic-400-square-300x300When people inquire about how many diseases are on our Ashkenazi panel, we tell them that we currently offer screening for 18 conditions that are distinctly Ashkenazi , plus another two that are common in all populations. I have already blogged about spinal muscular atrophy, the first of those “extras”.  Today I want to review why screening for the other one, fragile X syndrome, is more complex.

Fragile X syndrome is the most common inherited form of mental retardation in boys. Affected individuals demonstrate varying degrees of intellectual and behavioral disability, sensory disorders, connective tissue problems, and physical features. About 1 in 250 women are carriers of fragile X syndrome.

When we offer fragile X screening in our clinic, we find that some patients decline. This is because fragile X carrier screening is not the same as screening for the other 19 autosomal recessive conditions. Why?

Firstly, fragile X syndrome is not recessive; it is X-linked. In the context of pre-conception screening for the next generation, only females are screened for fragile X syndrome.  If you are a carrier of an X- linked disease, you are at risk to have an affected child, regardless of your partner’s results.  Therefore, finding out that you a carrier of an X- linked disease may have a more significant impact than finding out you are a carrier of a recessive disease.

Secondly, fragile X carriers may have certain health issues. While we usually tell our patients that being a carrier has no impact on your health, this may not be true of fragile X carriers. Female premutation carriers have a 20-30% risk of developing “primary ovarian insufficiency.” This condition may lead to infertility and/or early menopause.  Male premutation carriers have a 30-40% risk for Fragile X Associated Tremor/Ataxia syndrome (FXTAS), which is often compared to Parkinson’s disease. Female fragile X carriers can develop FXTAS as well (~8% risk), however it is more common in males. So while carriers will not develop fragile X syndrome, they may at risk to develop other medical conditions. Some people want to learn more about their own health risks, while others come in to learn about their offspring only.

Finally, fragile X screening results may not be as simple as “carrier” or “non-carrier”.  I am not going to go into a detailed lesson about the fragile X mutation in this blog, but the take home message is that one may be identified as an “intermediate carrier,” which is basically a pre-carrier. This person is not a carrier, so her child will most likely not be affected with fragile X. But the mutation may change over time, causing generations down the line to become true carriers ( what we call “premutation carriers”). Some patients are confused as how to proceed with prenatal or preconception genetic testing when they learn they are intermediate carriers.

So you can see why fragile X screening is not so simple. Currently, the American College of Medical Genetics and Genomics only recommends screening women for fragile X if there is a family history of it or any other form of mental retardation, or if the patient asks for it. There is no doubt that getting screened may be helpful for family planning purposes, but it may come with a price tag of more information than you had initially wanted.

To learn more about fragile X syndrome, visit the National Fragile X Foundation. They have a fantastic infographic about fragile X (part of which is shown at the top of this blog).

August is “SMA Awareness Month”

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In an attempt to express interest in my career, my husband likes to send me interesting links to news stories and videos that relate to genetics. He likes even more to send me links to his fantasy baseball players’ accomplishments. This week was his crowning achievement, as he sent me one that combined genetics and baseball. It was a video and article from ESPN.com about a 6 year old boy and his twin sister, both of whom have spinal muscular atrophy (SMA). The boy’s dream was to play for the Arizona Diamondbacks. The video is incredible and is a real tear-jerker!

If you or your partner has been pregnant in the past few years, you might have heard of SMA since your OB/GYN may have offered you genetic testing for this condition. SMA is an inherited disease of the motor nerves that causes muscle weakness and atrophy (wasting). Motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. So if the motor nerves are not working properly, these bodily functions are compromised.  In his book “Genetic Rounds,” pediatric geneticist Dr. Robert Marion (Einstein) describes SMA as “the childhood equivalent of the better-known, but also poorly understood, amyotrophic lateral sclerosis, more commonly known as Lou Gehrig’s disease…” (pgs 85-86). SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and is the leading cause of infant death. There are four types of SMA, which range from lethal in infancy to a less severe form that develops in adulthood.

Like other Ashkenazi Jewish diseases we have talked about on this blog, SMA is inherited in an autosomal recessive pattern. So if both parents in a couple are carriers of SMA, there is a 1 in 4 chance for them to have a child who is affected.

The reason many OB/GYNs order SMA testing is because in 2008, the American College of Medical Genetics and Genomics came out with a Practice Guideline that said: “Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity.” Recent studies have shown that the carrier frequency is about 1 in 56 in the general population, and about 1 in 67 in the Ashkenazi Jewish population.

If you look at our current panel of diseases for screening our Ashkenazi patients, you will see that based on carrier frequency, SMA is actually more common than many of the other diseases on the panel. I would like to point out that even though it is more common, SMA does not fall under the category of “Ashkenazi Jewish genetic diseases.” This is because those conditions have known “founder mutations,” or genetic changes that are frequent in that specific population. SMA mutations are common in ALL populations, not just in Ashkenazi Jews. Since we often see patients who come for Ashkenazi testing before a pregnancy, we recommend that they also get screened for SMA at the same time. This is also true for the Sephardic and non-Jewish patients we see.

August is “SMA Awareness Month.” To learn more about SMA and the research initiatives to treat it, go online to the SMA Foundation website.  Personally, I am made aware of SMA every day since my neighbor is affected with type II SMA and I see her playing outside in her wheelchair all the time. But for those of you who do not know anyone who is affected, try to become aware that this condition exists. Make sure to get screened before a pregnancy or early into one, and spread the word to your child-bearing friends and family. You could really make the difference!

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