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Expanded carrier screening: A review of growing consensus

27 Feb

 

Expanded carrier screening screenshot

5 questions with the lead author

Shivani Nazareth, Director of Women’s Health at Counsyl, sits down with lead author and VP of Clinical Specialists at Counsyl, Gabriel Lazarin, to discuss his recent publication in Seminars of Perinatology: Expanded carrier screening: A review of early implementation and literature”¹

 

Shivani: What do you think led to ACOG, NSGC and other key medical societies to put forth a joint statement on expanded carrier screening?

Gabriel: The realization that expanded carrier screening is here to stay, and that the medical community is in need of guidance from experts in the field. When we first introduced expanded carrier screening in 2010, we were met with a ton of resistance from genetic counselors and physicians.

Now five years later, the authors of the joint statement acknowledge the limitations of relying on ethnicity/ancestry to determine what diseases we offer to patients. Counsyl has played a big part in helping our colleagues offer expanded carrier screening in a clinically responsible way.

I think the joint statement is a testimony to the hard work that many people put into making expanded carrier screening a part of routine care.

Shivani: In your recent publication, you review the broad implementation of expanded carrier screening over the past few years. What did you find most interesting?

Gabriel: Widespread implementation has allowed the clinical community to more objectively estimate carrier frequencies and associated risks. Personally, I found those numbers to be intriguing.

As an example, data from a large multi-ethnic population revealed that the collective incidence of the “rare diseases” exceeded that of open neural tube defects or trisomy 21 in a 20-y old woman. This is a concept that geneticists have long inferred, but now concrete data allows for a more productive discussion of why we offer screening to patients.

Shivani: Can you talk about how we as genetic counselors can start to address pre-test counseling for so many conditions?

Gabriel: Sure, and the review article provides guidance on this as well.

As we screen patients for more conditions, whether it’s carrier screening for recessive diseases or hereditary cancer screening for a large number of genes, it’s fair to say that our current model of pre-test counseling is not sustainable.

Elias and Annas² described the elements of generic informed consent in their New England Journal piece, and we adapted their model for expanded carrier screening. In my paper, I review the ideal elements for pre-test consent, including an overview of disease categories, risk estimates, screening limitations, and next steps for high-risk couples.

Clinicians already do this for ultrasounds and other routine prenatal tests. We’re obviously not going over every possible birth defect that can be picked up on an ultrasound, but we give patients an overview of what to expect.

Shivani: In your paper, you note that there is widespread acceptance of expanded carrier screening, but only 15% of ACOG Fellows are routinely offering it to all of their patients. Why do think this is the case?

Gabriel: From my conversations with genetic counselors and doctors across the country, I suspect there is still some discomfort around how to counsel for a broad array of conditions. I’m hopeful that uptake of expanded carrier screening will grow as we start to agree upon best practices.

Shivani: What would constitute “success” in your eyes, when it comes to implementation?

Gabriel: That’s easy: everyone is offered expanded carrier screening before conception.

We still hear too many stories of couples who have lost children to rare diseases and had no idea screening was available. I think we have an obligation to these parents to change the way screening is practiced, and I will continue to beat this drum until we get there.

 


 

Bios_2

Learn more about the Counsyl Family Prep Screen here.

 


¹Lazarin GA, Haque IS. Expanded carrier screening: A review of early implementation and literature. Semin Perinatol. 2015
²Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med 1994;330:1611-1613

MDs get a “shared language” for discussions on carrier screening

18 Mar

When an oncologist assigns Stage One status to a tumor he’s letting his patient know they’re catching the problem early. It’s the kind of shorthand that’s missing in most clinical conversations about expanded carrier screening. Basically, there’s been no easy way for a doctor to indicate how serious a particular genetic disease is. Gabriel Lazarin, who works closely with physicians in his job as Director of Genetic Counselors on Counsyl’s clinical sales team, decided to see if he could change that.

Gabriel Lazarin at Counsyl headquarters.

Gabriel Lazarin at Counsyl headquarters.

“I wanted to give physicians and patients a shared language,” says Lazarin, who joined Counsyl five years ago as its first genetic counselor. “A way to talk about the impact of a disease in a way that’s more objective than saying “it’s not that bad,” or “it is bad.” Two years ago he helped organize a study to establish a scale for rating genetic diseases and in December the Severity Index was published in Plos One Journal.

The result is that a physician can now easily guide patients interested in carrier screening to a customized outcome. There are patients who find it alarming that they’re carriers for early hearing loss, for instance, while others don’t really mind. Patients can choose to be tested for every disease on the panel, including GJB2-related hearing loss, rated 2, or moderate. Or maybe they only want to be evaluated for conditions that have been rated 4, or profound, such as Canavan disease and Smith-Lemli-Opitz Syndrome. The beauty of the Severity Index is that it’s up to patients to decide on their level of tolerance. Says Lazarin, “I hope this starts us down a path of making it easier for physicians to discuss screening with their patients.”

Internship with a genetic counselor sparks a career

Lazarin has always loved science and as an undergrad at Stanford was naturally drawn to genetics. News about the genome was exploding in the early 2000s and when an advisor noticed his interest he suggested Lazarin consider genetic counseling. Intrigued, he shadowed a genetic counselor and discovered he loved it. He spent a couple of years after graduation working in the Stanford admissions office but couldn’t shake the connection he’d felt so he applied to the masters program at the University of Texas Health Science Center at Houston.

IMG_2205Lazarin arrived at Counsyl after a stint working in a high-risk pregnancy clinic in Phoenix doing prenatal genetic counseling. His chance to be a Counsyl client came a couple of years ago when he and his wife, a family physician who lives with him in New York City, decided to have a baby. “I knew to not expect anything bad but I also know from clinical experience that the unexpected happens,” he says. So it was a relief, he says, to find their children weren’t at significant risk. In December, he and his wife welcomed a healthy baby girl.

Lazarin, who recently explained his study approach in a guest post on the DNA Exchange, says he’d love to do more research. “I think we’re helping advance the field of genetic counseling by taking something complicated and turning it into something predictable,” he says. “I’m happy to be working with an organization that’s so willing to share information that benefits everyone.”

 

One Step Closer to Genetic Literacy

11 Nov

At Counsyl, we are starting a free series of educational webinars to promote genetic literacy. Clinical genetics is evolving quickly, and genetic counselors are a limited resource. Physicians and nurses often tell us that it’s hard to keep up. Even as a genetic counselor, I find it challenging to stay current with all of the new clinical applications of genetics, like non-invasive prenatal screening, whole exome sequencing, inherited cancer panels, and personalized genomics. There is plenty of data showing that physicians and nurses are not very comfortable with genetics. Depending on the specialty, some may have only had one course of genetics in school.  At a time when genetics is becoming an integral part of all facets of medicine, this is surely a problem.

Our goal is simple: engage medical professionals through simple and practical tools for education. We’re all about making things accessible at Counsyl. So, mark your calendars and spread the word. Our first webinar is scheduled for January 23, 2014 and the speakers include Caroline Lieber, Dr. John Marshall, and Dr. Bryce Mendelsohn.  The topic is “Understanding Expanded Carrier Screening & Its Benefits to Your Patients.” You can sign up at www.counsyl.com/webinar. Future topics will expand beyond Counsyl to include a broad range of “hot topics.”

For a glimpse of what to expect from our first webinar, check out the bios of our awesome speakers:

Dr. John Marshall

Dr. John Marshall

 

Dr. Marshall has served as Clinical Professor of Obstetrics and Gynecology at UCLA, Chairman of Obstetrics and  Gynecology at Harbor/UCLA Medical Center,  and Clinical Professor of Biomedical Sciences and Medical Education at Mercer University School of Medicine Savannah Campus.  He authored over 100 scientific publications and currently works for Counsyl.

Caroline Lieber

Caroline Lieber

 

Caroline Lieber is the former Director of the Joan Marks Graduate Program in Human Genetics at Sarah Lawrence College. She is actively involved in professional education and recently traveled to Guatemala to assess the provision of genetic counseling services abroad. Caroline is a genetic counseling consultant for Counsyl.

 

Dr. Bryce Mendelsohn

Dr. Bryce Mendelsohn

          

Bryce Mendelsohn received his MD/PhD in Molecular Genetics and Genomics from Washington University in St. Louis. Since that time, he completed a clinical residency in Pediatrics. He studies metabolic disorders and has tremendous interest in the pediatric application of genome-era technologies.

 

For suggestions on future webinars or a chance to speak on a hot topic, submit ideas to Kenny Wong, Director of Genetic Services at Counsyl, by filling out this form: http://csyl.us/qzfPO

A Fun Friday Post

25 Oct

We were so amused by this rap video on the discovery of DNA, we just had to share. Enjoy!

No better time in history

4 Sep

My wife has a fatal, dominant genetic disease, and in spite of this, I count us among the luckiest people to have ever lived. 

Mostly this is because we have each other.  But also because we have careers we love, a cause we’re passionate about, and a fiery hope that animates our every day.  All of which is new, and inextricably tied to the era in which we live.

When we found out in December 2011 that she had inherited from her late mother the mutation that causes fatal familial insomnia, we had no background in science.  I had studied city planning and she had studied law, and we had careers we felt okay about and no particular cause other than living a good life.  But we weren’t willing to take bad news sitting down, and because it was the 21st century, we didn’t have to.

I see now that I had never shown proper gratitude for the Internet until that time in our lives.  We embarked on a heretofore-impossible binge of Wikipedia and Open Access papers, learning everything we could about fatal familial insomnia.  It’s a genetic prion disease, meaning the mutation creates a deformed version of the otherwise-innocuous prion protein (PrP), causing it to form infectious protein particles called prions, which can spread across the brain. 

To record and organize our thoughts we created a WordPress blog, CureFFI.org.  After some night classes, Sonia swapped her old job for a position working with induced pluripotent stem cells and I swapped mine for a position in bioinformatics – surely two of the world’s newer job titles – in a Huntington’s disease lab.  The blog continued to be a repository for all we learned, and eventually it became half of my brain.  Writing posts is how I check that I understand a new concept.  Searching for them is how I find that one citation I need or grab that version of the Python code that I know for sure worked.  When our site went down for a few days in Fall 2012, my productivity dropped by half.

Something else remarkable happened.  From the beginning we’d been cold-emailing prion researchers we’d heard about or read about to try to talk to them and hear what they were working on, with about a 20% reply rate at best.  As the months went by and posts piled up, our blog began to hit top 5 in the Google rankings for the incredibly specific terms that only people in the field would ever search for: PrP alpha cleavage, conformation-dependent immunoassay, doxycycline CJD.  Soon I started getting messages through the Contact Us form from names I only knew as authors on papers, saying they liked the blog and would I like to Skype sometime.

A few months ago, I got one such contact from Dr. Armin Giese, a researcher who had read my review of the new anti-prion drug candidate he had just published: anle138b.  He turned out to have ambitious plans to push the molecule towards clinical trials and he told me everything he was working on.   I wanted to know if this compound would work against genetic prion diseases, and he didn’t have any data on this.  So last week our non-profit, Prion Alliance, launched a crowdfunding campaign on Microryza to fund a study of this drug in a model of GSS, a genetic prion disease not unlike fatal familial insomnia.  Our friends and family donated first, but within a week, more than half of the donor list was names we’d never seen before: friends of friends who had seen retweets, reshares, news feed updates.  People there was simply no way we could have reached before the social media era.  (Shameless plug: the campaign runs through 9/27 – check it out!)

But despite my soaring gratitude for living in the day of Wikipedia, WordPress, Twitter and Microryza, by far the most indispensable technology for this whole enterprise is: genetic testing.  The mean age of onset for fatal familial insomnia is 49.  Sonia is 29.  When in history has anyone had twenty whole years to dodge a bullet?  As the pace of technology accelerates, the scythe of death seems to move slower in comparison.

The kind of genetic testing we did – sending a blood sample in for Sanger sequencing – isn’t actually as new as the other technologies I mention.  It’s been available to patients pretty much since the mutations that cause most genetic diseases started to be discovered a couple of decades ago – 1992 in the case of fatal familial insomnia.  But it’s on the rise – perhaps due to greater awareness, generational change, anti-discrimination legislation, who knows why else.  In any case, it’s just beginning to achieve its transformative potential. 

Here’s one example of why.  Prion diseases are rare, but they seem even rarer than they are because they’re so rapidly fatal.  These illnesses claim about 250 lives per year in the U.S. but the average time from first symptom to death for the most common forms of the disease is just a few months, meaning that probably only 100 or 200 Americans are sick with a prion disease at any given time.  This is a matter of incidence versus prevalence.  The latest estimates for Huntington’s disease would give it an incidence of about 1100 new cases per year in the U.S., making it a bit more than four times as deadly as prion diseases, but with a median disease duration around 20 years its prevalence is more like 100 times that of prion diseases.  And it shows: the number of Huntington’s disease advocates doing everything from blogging to organizing fundraising walks is enormous.  By contrast I find that when I search Twitter for #prion, a significant percentage of Tweets are my own.

This is why when Dr. Giese first contacted me about anle138b, he said I’d changed his thinking on prion diseases.  He had always assumed that the low prevalence of prion diseases put a fundamental limit on how significant a patient advocacy contingent could exist to push research forward.  Unlike in Huntington’s disease, which is 100% genetic, most prion disease cases are sporadic – we have no earthly idea why they happen – and to make matters worse, they’re hard to diagnose.  Most patients don’t get a correct diagnosis until 2/3 of the disease has already passed.  By the time the family hears the words “Creutzfelt-Jakob disease” their loved one is inches from death.  They are devastated, but by this point there is nothing they can do for their loved one.  A soulful and devoted few do choose to get involved in research or advocacy – these are incredible people whom I admire and respect deeply – but most just pick up the pieces of their lives and move on.

But here, Dr. Giese said, was a new animal: someone armed with genetic information, with 20 years to devote their life to a cure.  Obviously, Sonia and I are far from the first – we’ve now met tens of other genetic prion disease carriers on Facebook, the blogosphere, and at the CJD Foundation conference – though we might be the first to become scientists.  But collectively we, all of us, are a new animal.

30,000-odd Americans die in traffic accidents each year.  Safety is improving year by year, but I submit to you that if the 300,000 people who will die this way in the next decade knew who they were today and could vote and advocate and fundraise to forestall their own fate, it would be improving a whole lot faster.  But until an accident happens, its hypothetical victim is no one in particular, it’s just a Schroedinger’s cat, .0001 of each of us.

For genetic diseases it doesn’t have to be this way: testing can give us decades of advance notice to take action.  Of course, for genetic results that are immediately actionable, such as Angelina Jolie’s BRCA mutation, the benefits to the individual are clear (though that isn’t the end of debate on the matter).  For diseases with no treatment or cure today, whether to get tested is a deeply personal decision.  We think there are lots of good reasons to do it, but that doesn’t mean it’s right for everyone.  However, at an aggregate, societal level, the benefits of genetic testing are undeniable.  We finally have the power in our hands to analyze enormous datasets, and that means we need enormous numbers of people – every one of the thousands of datapoints in my Huntington’s disease datasets is a single brave person who made a personal decision to enroll in a clinical study and share their genetic information.  And we need more.  So too with every private dollar that’s fundraised, every NIH dollar that’s allocated, and every discovery made by researchers who became scientists after learning their own genetic status – and by researchers inspired by a personal connection to patients they care about.

One of the arguments I’ve heard for not getting tested is the fear of determinism; that knowing one’s fate might taint every day in between.  I submit there is no such thing as genetic determinism.  None of us know our fates.  We only know that the future is what we make it.

Eric Minikel is a Computational Scientist at the Center for Human Genetic Research at Massachusetts General Hospital and a co-founder of Prion Alliance, a non-profit research foundation devoted to finding a treatment or cure for human prion diseases.  He and Sonia Vallabh changed careers and started Prion Alliance in 2012 after learning that Sonia had inherited the genetic mutation that causes fatal familial insomnia.  The views expressed here are Eric’s own.

 

Sullivan’s Life Sheds Light on SMA

15 Aug

August is Spinal Muscular Atrophy (SMA) awareness month.  Shivani Nazareth, one of our genetic counselors, spoke with Brittany Madore about her experience with SMA.  By sharing her story, Brittany hopes to inspire doctors to provide SMA screening routinely and families to understand their options. Brittany is a hospice nurse who deals with end-of-life issues on a daily basis.  Her story gets to the heart of why carrier screening prior to pregnancy is ideal, and sheds light on how to improve access to carrier screening across the country.

Q: How did you meet your significant other?

Brittany: We met on eHarmony.  People laugh when we say that, but these days, lots of people meet that way.

Q: What steps did you take to prepare for a family?

Brittany: We planned on having kids at some point in the future, but due to a birth control “slip” we were about 2-years ahead of schedule.  We did all of the usual tests with nothing invasive because we had no high-risk issues.  I was 29 and very healthy and had already carried and delivered a healthy little girl (now 9 years old).  There was never any talk about genetic conditions other than cystic fibrosis and Down syndrome.  My pregnancy was normal and healthy.  He kicked and moved normally, and I never had any complications.  My water broke on my due date and we had a beautiful, uncomplicated birth.  Dad actually delivered him (go Dad!) and his big sister cut his cord.

Sullivan

We named our baby boy Timothy Sullivan.  He was 8 lbs 3 oz; slept great, loved to be cuddled, and he breastfed like a champ.  When he was about 4-5 weeks old, we started to notice that he didn’t attempt to lift his head.  My mother and I discussed some other behaviors that seemed a little off… like his fairly quiet cry, and the fact that he didn’t kick his legs.  By about 6 weeks old he was “doll-like,” meaning that whatever position I placed him in was how he stayed.  He was eating well, sleeping well, and was smiling and making eye contact.  We called our pediatrician and when we brought Sullivan in, he was immediately concerned and checked his reflexes, which were all absent.  Being a nurse, I knew that meant some pretty horrible possibilities.

I was up that night searching the Internet for about 2 hours.  I found his diagnosis that night.  I found descriptions of symptoms and pictures of other babies who had inherited it as well.  He had every sign of it!  The next morning, we went to see a pediatric neurologist for diagnostics. The ride into the neurology office was hell.  I knew what we were going to learn at that visit and to have your worst fears confirmed is such a terrible feeling.  The neurologist assessed him for about 30 seconds and asked if we had found anything online.  I was holding my baby’s hand with my face buried on the exam table next to him while trying to enunciate slowly and keep from crying and I said: Spinal.  Muscular.  Atrophy.  Her reply was simple, and I will never forget the reluctance and the sadness in her voice.  At the end of a long sigh she softly said “Yeah.”  I immediately sobbed all of the tears I had been holding back all morning.  I didn’t need any other information.  I knew she had just given my beautiful 49-day-old son a terminal diagnosis with a prognosis of 4-8 weeks.

Q: What kinds of medical decisions did you have to make for your son, and how did they affect your relationship with your spouse, family, friends?

Brittany: We decided on absolutely no intervention. That meant no immunizations, no deep suctioning, no machines to help him breath, no feeding tube, no surgeries, no doctor appointments.  Hospice provided a baby scale so we could weigh him at home.  After his diagnosis, we never brought him to another doctor appointment of any kind.  No therapy.  No dietician.  Nothing.  We very literally took him home to love him.  We didn’t want to waste precious time driving to doctors.  His car rides were few and far between and he required a special flat car seat.  Thankfully, we agreed on all decisions.  Our family also supported our decisions.  We did not get any negativity about our decisions in any way.  If there was hope, that would have been a different story.  But we had none.  He was going to die… soon, and there was nothing we could do about it.  We agreed that a short, wonderful life was better than a life paralyzed, in a wheelchair, with no ability to talk, eat, cough, or hold your bowels.  We chose quality over quantity.

Q: How did your career affect your ability to handle your son’s diagnosis?

Brittany: I am a hospice nurse, and I absolutely love my job.  I am very thankful to have had experience in “end of life” issues, symptom management, and grief.  Within hours of Sullivan’s diagnosis, we requested an order for hospice and the agency I work for provided it.  I felt very comfortable receiving hospice care from my coworkers, as they were also my friends.  One of the most common effects of this disease is the loss of the ability to suck and swallow.  With the help of my coworkers, we decided not to intervene with the process of the disease at all.  We did not want to “buy” any extra time with our son because the price is never up front.  There are risks with feeding artificially and we did not want to cause more harm than good.  We focused on making every minute happy and discomfort-free.  We welcomed all friends and family to come visit any time.  We have pictures and video of everyone holding, kissing, and talking to him.  We baptized him with 100 friends and family gathered around.  We put a Christmas tree up before Thanksgiving because we knew his time was short and wanted him to see the Christmas lights.  We took him to his sister’s Christmas concert because we knew he would love to watch her perform and hear her sing.  We tried to enrich his life with sensory experiences and the love of family and friends.  He loved to lick cantaloupe, apples, and chocolate.  He tried ice cream, greek yogurt, and blueberry crisp.  He didn’t like the feeling of the Christmas tree in his palm and he made an awful face when he licked a salty chip.  He watched Finding Nemo and Elmo Singing with the Stars during the very few times he could not be held.  He had a bath every single day and he loved the water.  He loved watching the fire in the woodstove glow and the ceiling fan turn.  He lit up when he heard his mom, dad, or sister talk.  He enriched our lives in such a profound way.

Q: How old was your son when he died?

Brittany: He was 4 months old when he passed at home in my arms, with his daddy holding his hand and his nana stroking his legs.  More precisely, he was 130 days old.

Q: What do you hope to do for other families by talking about your son?

Brittany: I want SMA to be as widely known as cystic fibrosis and Down syndrome.  It is considered a rare disease but is too common for no one to have heard of it.  My OB and PCP had never heard of it.  My mother and I are both nurses and had never heard of it.  So many babies die of this disease and carrier testing is available.  I want everyone to be informed about the reality of genetic diseases and be offered the option of carrier screening.  Healthy parents can have healthy pregnancies and give birth to a terminally ill baby.  Carrier screening could have prevented my son and my family from suffering.

Q: How did you proceed with trying to plan for more children?

Brittany: We decided to have the full Counsyl test to confirm our carrier status for SMA and see if there were any other risks.  We have decided to have a chorionic villus sampling (CVS) between 11-13 weeks of pregnancy, and terminate a pregnancy that was SMA affected.  We personally will not put another baby through SMA and feel that our older child should not suffer the loss of another sibling.  Another family I know called an early termination an “early goodbye.”  I think that about sums it up.  We will have to say goodbye one way or another, so we prefer to say goodbye before the suffering starts.

Q: For the sake of physicians and genetic counselors who care for patients like yourself, can you describe the experience of attempting to get carrier screening?

Brittany: There are currently no providers in the state of Maine who will order the Counsyl test.  My OB offered to order SMA carrier screening through another lab, but it was several hundreds of dollars and not covered under my insurance.  We really wanted to have the Counsyl test because we wanted information on other genetic diseases, as well as SMA carrier confirmation.  Since we had insurance, the Counsyl test was only $99 each and provided lots of information.  We didn’t understand why we should pay hundreds or thousands of dollars for confirmation of carrier status.  We just watched our baby die of SMA… that was confirmation enough.  It was very important for us to learn of other hidden disease causing genes, especially since they were available at such an affordable rate.  After talking with a Counsyl representative and obtaining a list of providers in New Hampshire and Massachusetts, I contacted the closest one and made a new patient appointment.  They would not order any testing without actually becoming a patient.  I had all of my files sent to the office, which took about 2-3 weeks.  I called my insurance company to make sure they covered a visit outside my state of residence, which they did.  I then waited a month for the appointment.  I also requested the day off of work as the travel would take up most of the day.  The day of the appointment I drove a total of about 5 hours round trip and spent 1 hour in the building.  After speaking with the doctor and even telling her the story of losing my baby to SMA, she denied my request to have the Universal Panel through Counsyl and sent me home without a test kit.  I cried all the way home.  I didn’t understand how such a simple request could be so hard to fulfill.  I called the Counsyl representative again and he gave me information that I could take back to the office.  The doctor was misinformed and she was not giving me the correct information.  When I called the office the next day I spoke with their nurse practitioner that totally understood my request and my dilemma.  She ordered the test on the spot.  Since I did not have a test kit, the new dilemma was waiting for it to come in the mail.  Again, Counsyl assisted me in getting test kit codes for the provider so they could be mailed out a.s.a.p.  I had my blood drawn the next day and my significant other provided his saliva sample for his kit.  We had our results in 10 days.  The Counsyl kit detected carrier status for both of us.  It also detected 4 other mutations for him.  We went a step further and ordered another kit for myself to have sequencing done for the mutations he was positive for (another affordable $299). It cost us about $500 to have all of our counsyl testing done and the results are priceless.

Q: Is there anything else you would like people to know?

Brittany:  Although I believe our decisions were the best for our family, we believe all families make decisions that are best for their families.  We do not judge others for their decisions even if they are quite different than ours.  Our goal is to raise awareness and spread the word about available and affordable carrier testing. We are thankful to have these results to guide us, and we hope other families can have these results prior to the loss of a beloved child. Our hearts are full of love for our precious boy, but our memories and pictures are all that we have left of him.

Brittany and her daughterBrittany, age 30, lives with her significant other, Tim, and their 9-year-old daughter in southern Maine.  She graduated from nursing school in 2007 and has spent 5 years in the role of a Hospice Nurse, providing care to terminally ill patients and their families.  

Honoring My Son

23 Jul

Evan UngerleiderMy first child, Evan, was born in August of 1994.  We joyfully watched him grow and develop normally for the next six months.  He was a happy baby, always smiling and laughing.  We had all the normal hopes and dreams for his future.  As Evan got older, we noticed a few things that concerned us.  Our friends’ children were rolling over, sitting up, crawling, standing, and interacting with others. Evan was not able to do any of this; he just watched the other children, smiled and laughed at them.  With time, his laughter began to fade and his observations became a distant stare.  We also started to notice that he was having difficulty eating.  Jeff and I tried hard to fight the tendency to compare Evan to other children his age, but by 10 months, we could no longer ignore the signs.

We took Evan to the pediatrician for a well-visit and were advised to see a pediatric neurologist.  The next three months were spent hopping from doctor to doctor, hospital to hospital, where Evan underwent numerous uncomfortable and often painful tests.  At thirteen months we still had no diagnosis and he continued to lose milestones.  Then, midway through an eye exam, a “cherry-red” spot was noted on Evan’s retina.  The doctor told us that this was an almost certain indicator that Evan had Tay-Sachs disease.

The diagnosis did in fact turn out to be Tay-Sachs disease. Hearing this news was beyond devastating; it was like having a dagger stabbed through my heart.  We discovered that Evan would not live to reach his fifth birthday.  Hopes and dreams of watching Evan grow up happy and healthy quickly turned to grief and anger about losing him forever.

Jeff and I wanted to care for Evan at home so that we could spend as much time with him as possible. Evan’s disease quickly progressed -he suffered multiple seizures daily and had respiratory difficulty, which required us to provide chest physical therapy and frequent suctioning. He eventually became blind and deaf.  We had a feeding tube surgically inserted so that Evan would be able to stay properly nourished and medicated.  Through all this, we tried our best to create a lifetime of memories with Evan in the short time he had left.  We took him to the park, pool, beach and zoo regularly.  He was constantly surrounded by people who loved him.  Evan lost his battle with Tay-Sachs when he was almost 4 ½ years old.  Although we knew that his disease was terminal, we were completely shocked when he died.  There is no way to prepare yourself for the death of a child.

To honor Evan, I decided to turn our tragedy into something positive so that other families would be spared the suffering that we experienced.  Having a child with a rare disease has made me realize the importance of raising awareness about Tay-Sachs and the related genetic diseases.  Since Evan’s diagnosis, I have been involved with the National Tay-Sachs & Allied Diseases Association (NTSAD) on both a local chapter level and on the national level.  I am currently the President of NTSAD and the Co-President of the New York Area Chapter of NTSAD.  This organization has provided me with ways to channel my loss and sadness over Evan’s passing by working towards education, research and family support services.

Jeff and I now have three other beautiful and healthy children who fill our lives with joy and give us the strength to carry on.  With each of my subsequent pregnancies I was able to have a CVS test performed to rule out the presence of Tay-Sachs.   Our children have grown up helping Jeff and I honor Evan by getting involved in all fundraisers that we have run.  Not a day goes by when I do not think about my first son and how my life would be if he were still alive.

ShariShari Ungerleider is the Project Coordinator for the Jewish Genetic Disease Consortium, where she runs educational programs for the medical, rabbinic and lay Jewish communities about the importance of preconception carrier screening for Jewish genetic diseases.  Shari, along with her husband Jeff and father Stanley Michelman, founded the Evan Lee Ungerleider Foundation when her son was diagnosed with Tay-Sachs disease.  This Foundation is part of the National Tay-Sachs & Allied Diseases Association, New York Area Chapter, where Shari been a board member for over 15 years.  Shari has four children: Evan (mentioned above), Justin, Leigh and Sydney.  She lives in Wayne, NJ with her family.

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