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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.

 


 

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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

Transparency in non-invasive prenatal screening (NIPS) results reporting

23 Feb

 

Individualized PPV and why it matters

5 Questions with Dr. James Goldberg, FACOG, FACMG

1. What is Positive Predictive Value (PPV)?

Dr. Goldberg: Positive predictive value (PPV) is the likelihood that a positive result is associated with an affected pregnancy. PPV is based on test performance as well as prevalence of disorders.

For conditions like Down syndrome, for example, both maternal and gestational age impact the prevalence of the condition, and should be factored into the PPV calculation, thereby generating an individualized or patient-specific PPV.

Individualized PPV is not a new concept for OB/GYNs — it is equivalent to the patient-specific risk estimates obtained from traditional maternal serum aneuploidy screening.

Just like in serum screening, we take the sensitivity and specificity of the test (test accuracy), the patient’s prior risk based on maternal and gestational age, and test results to compute an adjusted post-test risk.

The clinical community has had some trouble transitioning this same concept to cell-free DNA. I believe this is because we were first focused on the high sensitivity and specificity of non-invasive prenatal screening (NIPS).

2. How is PPV different than the sensitivity and specificity of a test?

Dr. Goldberg: There are a lot of numbers associated with a screening test that let a provider know how well the test performs at a population level, including sensitivity, specificity, false positive rate, and test failure rate.

Some may confuse PPV with sensitivity and specificity. Sensitivity is the chance an affected pregnancy would have a positive result, and specificity is the chance an unaffected pregnancy would have a negative result — for most non-invasive prenatal aneuploidy screens these numbers are about 99%.  

While this speaks to the performance of the test, those values play just one part in determining a patient’s actual risk. The other crucial piece is the patient’s prior risk. What was her chance of having an affected pregnancy before she walked in the door? For disorders like Down syndrome, this depends on her maternal and gestational age, which will be different for every patient.

For example, let’s compare two patients with the same positive NIPS result for Down syndrome:

A 25 y/o patient at 16 weeks has a PPV of 27.7%, giving her a 27.7% chance of having an affected pregnancy.
A 42 y/o patient at 12 weeks with the same result has a PPV of 91.6%, giving her a 91.6% chance of having an affected pregnancy.

3. Why is PPV important?

Dr. Goldberg: NIPS is a highly accurate test and has decreased the need for invasive testing like amniocentesis by more than 60%¹ in the last several years.

But, NIPS is not a diagnostic test — it is a screening test.

When there is a positive result, providers and their patients then have the choice to pursue diagnostic testing such as amniocentesis or CVS to confirm the result.

This is a critical point because some patients may hear “99% accurate” and believe there is a 99% chance their baby is affected. Then, they may opt to take action without confirmation when their risk is actually much lower.  As you can see from the examples above there can be significant differences.

An individualized or patient specific PPV is the only number that reports the likelihood that a test result is correct for that particular patient. It specifies the individual patient’s risk after a positive test result — in the same way that traditional serum screening results have been reported for decades.

4. What do the medical societies say?

Dr. Goldberg: Most of the initial recommendations related to NIPS were commentaries on the accuracy and use of the test. Recently, both ACOG and SMFM² ³ have released recommendations citing individualized PPV as an important aspect of NIPS reporting that should be included for all patient results.

“Given the importance of these data in providing accurate and understandable information to patients regarding screening test results, ACOG and SMFM encourage all laboratories to report results with PPV and residual risk values.” ²

It is also cited in this commentary that no-calls should be treated as screen positives, and that genetic counseling should be offered to all patients, even those with negative results.

5. What is Counsyl doing to address this?

Dr. Goldberg: Last year at SMFM, when I had just joined Counsyl as the Chief Medical Officer, we began discussing the importance of PPV. I felt this was absolutely crucial; and I’m proud to say we now include individualized PPV and negative residual risk on all our Informed Pregnancy Screen reports.

 

Sample IPS report

Sample Report – Counsyl Informed Pregnancy Screen

 

Counsyl is the first lab to include individualized PPV on reports so there is no need to calculate it separately. The low test failure rate of the Informed Pregnancy Screen also means fewer redraws and less anxiety for patients. We want to ensure that clinicians have what they need to responsibly offer NIPS and guide next steps for a patient’s care.

There are a lot of NIPS options available but not all tests are created equal.

While the accuracy of most NIPS options are about the same, the experience for the patient and provider can be very different.

As screening becomes more broadly available, Counsyl is working to address the challenges integrating broader screening into an already busy practice with our customizable platform of additional services.

We partner with clinics to serve as an extension of the office with results delivery, on-demand genetic counseling for both positive and negative results, and transparent billing policies. This decreases patient anxiety and enables seamless integration into clinical practice so clinicians can stay focused on patient care — that makes all the difference.

 


 

JG Bio

 

 

 

 

 

 

 

Learn more about the Informed Pregnancy Screen here.

Recommended articles of interest:

 


 

¹Benn P, Curnow KJ, Chapman S, Michalopoulos SN, Hornberger J, Rabinowitz M (2015) An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS ONE 10(7): e0132313. doi:10.1371/journal.pone.0132313
²Cell-free DNA screening for fetal aneuploidy. Committee Opinion No. 640. American College of Obstetricians and Gynecologists. Obstet Gynecol 2015;126:e31–7
³Society for Maternal-Fetal Medicine (SMFM) Publications Committee. #36 Prenatal aneuploidy screening using cell-free DNA. AJOG 2015, 212(6):711-716

Our Forever Baby

16 Sep

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I’m no expert in genetics, but one thing I know for sure; genetic testing has changed the course of my life.

My husband Ryan and I met on a college cross-cultural trip to England. Less than a year later, we were dating and three years later, we were married. He pursued me with all his might, and I gave in – I thank God for my weakness every day. His gentle heart, sensitivity, goofiness, and ability to run faster than anyone I know won me over. Ryan is the textbook definition of a well-rounded man, and I like to think I’m his perfect counterpart.  Where he lacks patience, I can wait forever. Where I lack tolerance, he accepts without hesitation.

He proposed where we went on our first official date – Hershey Park. It was amongst the loud thunder of a roller coaster and screaming kids that he got down on one knee and asked me to be his – forever. The ring was upside down and I wasn’t sure whether to laugh or cry. Of course, I said “yes!” Our wedding day was the most perfect, sunny day ever. Naturally, we got married inside. I’d never risk rain, I’m a big planner (read, “control freak”),  and it was really a perfect day. I remember several weeks later, a friend said, “Erin, I don’t know anyone who looked as happy as you on their wedding day. You looked truly happy.” I’ve been known to wear my emotions on my sleeve and this time it paid off – to have my family and friends see the joy I felt was a true blessing.

And so that’s when the love story of “us” got started. We knew that we were quite the pair right from the start, but it wasn’t until we started trying to have kids that our destiny began to unfold before our eyes.  Simply “getting pregnant” wasn’t working.  I intuitively felt like something was wrong, and after 6 months of Clomid {to initiate ovulation}, 1 month additional hormones, 1 failed IUI, and 2 failed IVF cycles, I knew something was wrong. We actually attempted 3 IVF cycles, but one was switched to an IUI because of the lack of viable eggs. I was on the highest dosage of medication and still….only 2 eggs. Our fertility specialist suggested I get tested for Fragile X syndrome, which could cause premature ovarian failure – this might provide an answer to our problem. It just made sense to get tested for Fragile X, as well as, 100+ genetic diseases in a Counsyl test.

We felt assured that it would be a $100 test to give us some comfort in knowing nothing was wrong and we could continue with hope and trust that my supplements would boost my eggs and get us the healthy embryos we needed to transfer! I remember the call we got from our nurse like it was yesterday. She said “we just got your Counsyl results and it’s….interesting” (insert crickets and my rapid heartbeat here). After what felt like forever she asked me if I had a piece of paper and would like to “write some things down.”

Ummm…okay.

When you don’t say “Hereditary Thymine-Uraciluria” every day it’s kind of hard to get out in one breath – it took her several + a spelling. After I hung up the phone, I knew that the direction of our lives had changed. I knew my plans were certainly not my own and nothing was going to continue as planned. Ryan and I both were on the same page here and thought aloud: “seriously?” Was there really one more thing?

Our parents had the same reaction to the news. We were all kind of in disbelief. None of us knew anything about Hereditary Thymine Uraciluria – nothing. All we knew was that our child would be at 25% risk for a genetic disease that could cause serious mental and physical disabilities.

I always knew Ryan and I were a special pair, but the risk for both of us to be carriers was 1/10,000. If that’s not special, I’m not sure what is. So we did what we’ve been doing throughout our entire journey; researched our options, talked with genetic counselors, and prayed that God’s perfect plan would continue to reveal itself to us. And it has. The Counsyl test was what one might call “the straw that broke the camel’s back.” With no transfer-worthy embryos, old acting ovaries, and a really random genetic disease mutation, we felt God was trying to tell us something – “stop trying to do it yourselves!”

I felt immediate relief in knowing what we were going to do, and then I was hit by what it really meant. We both feel that God was directing us to stop, but WOW was it hard to accept. Making the decision to adopt is one thing, but accepting it is something completely different. The desire for us to have children has never wavered throughout our journey. I don’t have words to express the joy and excitement I feel for what’s ahead for us. I know, with certainty, that God continues to work in our lives and the baby He blesses us with will be a gift.

Our families couldn’t be more excited. We wasted no time initiating the adoption process and we’re officially waiting to hear from the agency. This means that any day now, we could get a call saying “you’re parents!” I imagine that will be another life changing moment. Although this process has felt impossible at times, I thank God for bringing us through it…although that might sound crazy! I’ve discovered strength that I didn’t know I had and have felt peace that only arrives after the hardest of storms.

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I’d encourage anyone going through the throngs of infertility to remain hopeful, stay informed on all that’s happening and don’t be afraid to steer away from the plans you create for yourself. We’ve decided that no matter how long we have to wait for our “forever baby” we’re starting our “happily ever after” right now. The desire of our hearts will be fulfilled, and I cannot begin to imagine how special and unique that will be for us.

Erin and her husband Ryan live minutes from “The Sweetest Place on Earth,” Hershey, Pennsylvania. Erin loves to stay active, spend time with her dog Phinley, and update her personal blog.  Erin currently works as an elementary school computer teacher and is looking forward to her dream job as “mom.”

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.  

No Limits on Creativity

15 Jul

DwayneWe met Dwayne Szot at the Annual Families of SMA conference in Anaheim, CA and were amazed by his ability to use art to engage members of the SMA community.  Dwayne was kind enough to sit down with Counsyl and discuss his work.

Q: What inspired you to create Zot Artz?

Dwayne: “As a youth, I lived in a foster home in the rural midwest and two of my foster siblings had cerebral palsy.  I grew up with people of all abilities around me, and I distinctly remember a day when I had to carry my foster sister to catch a bus down a country road in Michigan. She wouldn’t have made it all the way down that hill on her crutches in time to catch the bus.  Experiences like that influenced my worldview and gave me the courage in the late 1980s and early 1990s to create an entirely different artform.  My first painting wheelchair was a sculptural endeavor straight out of Willy Wonka, with twirling parts and crazy gadgets. It was funded by the National Endowment for the Arts and the focus of my master’s thesis.  I was painting with my sculptural wheelchair painting machine in downtown Detroit, and I recall a disabled gentleman asking if he could drive the machine.  At that moment, my work of art became a tool for art, and this gentleman was transformed into an artist. The art was not merely in the sculptural design, but in the ability to transform the human spirit. My art became alive. It became a force for change in the lives of people with disabilities.  I imagine that painting with a wheelchair is like leaving footprints in the sand or creating snow angels in the winter.  You become one with your world. You create your mark.”

Q: What role does technology play in your artwork?

D: “I don’t think what I do is very high-tech, but it fills a need by fostering a new way for all individuals to create. I have always been fascinated with mechanical design and built machines  to enable my own artwork.  I used machines to apply color to very large surfaces, like buildings and frozen lakes.  This passion combined with my life experience gave me the insight to respond to the universal need for creative expression.  I build all of the attachments myself, and I think of my art as a different application of technology— a very human application.”

Q: Can you describe your artists?

D: “There are individuals of all abilities at our events. I bring together children and adults with and without disabilities to create and have fun.  Many of the artists have cystic fibrosis, spinal muscular atrophy, hearing or visual impairments, cerebral palsy, autism, muscular dystrophy, spina bifida, other health conditions. Having each participant use the same tools for art minimizes the focus on disability.  The process of creativity allows the artists to be engaged from start to finish; cut if you can cut, tear if that’s easier. We bring different worlds together without setting limits on ability.”

Q: What happens to those big murals after the event?

D: “We make 50-foot paintings, and then we cut them up into smaller gifts, like cards, gift boxes or stretched canvas pieces.  It’s a gift on many levels: it’s a gift to be able to be present and make art, it’s a gift to help children be creative, and it’s a gift to give back to the community.  For me, that is what art is all about.  It’s a concept to enrich peoples’ lives, rather than some crazy art idea.”

Q: How do you decide what to create in your studio?

D: “What I do is in direct response to life. The people I meet and love, friends and colleagues of all abilities.  For instance, I was ‘chalking up’ in a school classroom with kids of different abilities.  I took one of the kids out of his wheelchair so he could participate, but in doing so, I realized that he was completely out of his comfort zone.  That inspired me to create Chalk Walk and Roll, which is basically a simple way of allowing children in wheelchairs to draw with chalk on the ground.  It hadn’t occurred to me that there was a need for such a device until I saw a child struggling to draw on pavement with chalk, which is something we all do as kids.”

Q: What are you working on now?

D: “I’m working on Squirt Me, which is a backpack-like device that hangs from the back of the wheelchair.  It is switch activated and can squirt water.  We’re testing it out with paint now to see if we can use it as a mechanism for creating artwork.”

Q: Tell us about one of your most memorable Zot Artz moments.

D: “The Families of SMA conference was extremely memorable.  I have a passion for reaching out to children and siblings of all abilities.  The conference gave me both ends of the spectrum.  As an art guy, I’m more like a conductor than a creator.  The energy of the day contributes to the score.  That conference was the song of the day.”

Dwayne Szot, founder and president of Zot Artz, is just the right combination of artist, engineer, and big brother to excel at helping children with disabilities experience the joy of creating art. Szot’s education focused on art, starting with commercial and graphic art in high school. Winning graphic arts contests helped him attend the Kendall College of Art and Design at Ferris University in Grand Rapids, Michigan. He received a Master’s in Fine Art from the Cranbrook Academy of Art. He founded Zot Artz to create adaptive art tools and make them available to teachers, therapists, residential providers, hospitals, parks, and other facilities that could offer art experiences to children.

A Mother Wanting Better for the Next Generation

9 May

I grew up in what you might euphemistically call a “broken home.” My father, emotionally and physically hurt in WWII, had turned to alcohol. He had a difficult time holding down a job, meaning my mother, two older brothers and I, the kid sister, uprooted ourselves on annual moves until my parents divorced when I was in elementary school. This made our family life calmer, but money was tight. We scraped by, but only due to my mother’s sheer determination. After a tumultuous childhood, I wanted nothing more than what most parents want: to create a safe, stable and loving home for my own children. As an adult, I made it my goal to have a life of ‘ones’ for my children. One school. One home. One father.

Adding to the challenges of childhood was that I was born without my right arm, below the elbow. While there have been physical challenges along the way, the more difficult ones for me were the emotional ones of so easily being identified by other kids as different and odd. I always knew that if I were to become pregnant, I would do everything in my power to give my baby the most healthy start possible.

In my mid-twenties, I was well on my way to accomplishing this goal. I’d finished college, started a career, and found Stuart, a man with the most stable profession in existence: tenured University professor. I didn’t smoke, kept a healthy weight, and exercised regularly. Soon, Stuart and I had saved up for a small rambler nestled in a safe Minneapolis neighborhood. The two-bedroom home had one master bedroom and another in which we soon set up a crib and covered the walls in flowered wallpaper.

Every parent prepares for their baby in their own ways. I’ll always remember that summer of ’82 when my husband was frantic to get the kitchen ceiling painted before the baby came, as if no self-respecting parent would raise a child in a home without a fresh coat of paint on the kitchen ceiling.

I was very concerned about protecting the baby growing inside me from anything that might harm them. After visiting the doctor to confirm I was pregnant, I stopped by Target to pick up covers for the electrical sockets and promptly installed them. That’s right, my child barely had a heartbeat and I was babyproofing the house. You can never be too safe. For the entire pregnancy, I ate right, didn’t touch alcohol and did everything the doctors asked of me – including drinking the full 72 ounces of water before my ultrasound and letting them draw endless blood for tests despite my phobia of needles. My OB was a delightful, emotional Italian who hugged patients and expectant fathers alike. He was well aware of our concerns for a healthy baby and shared with us the reassuring ultrasound news that our baby had, as is the classic refrain of many new parents, “all ten fingers and toes.” The pregnancy went well, except for the hot and humid summer days when, in our air condition-less home, and 8 1/2 months pregnant, my only refuge was a bathtub of cold water.

When I went into labor on August 14th, just two weeks shy of my due date I was prepared. My pajamas were packed, I had a pillow ready to bring with me to the hospital, and the kitchen ceiling had been re-painted. I worked at a clinic down the street from the hospital and drove myself. I remember the labor being fairly routine. Although, being my first child, I didn’t really know what to expect beyond a lot of practiced breathing and pushing. When baby girl Martini arrived, the OB delivered her and Stuart cut the umbilical cord. But something wasn’t quite right. The baby was small — only five pounds. Were we sure of the dates? Yes, we were sure she was nearly full term. She was breathing, and cried, and I got to hold her on my chest for a few minutes. But the OB was uneasy and wanted her checked out in the nursery. The resident took her away and Stu and I waited in the delivery room together, as I was being sewn up. A while later, the resident reappeared outside the room and, through the window, gave us the thumbs up. To this day, I wonder why he gave us the thumbs up when something was clearly very wrong.

Stuart and I were taken to a recovery room. Just the two of us. No baby. And we waited. And waited some more. The doctors wanted to do more checking. And it was night time. And dark. And we waited some more. The pediatrician on call at the hospital that night was Dr. Sally Callwell. We didn’t know it at the time, but she was fresh from being head resident at the highly respected University of Minnesota Medical School’s Pediatric Program. She was brilliant and, thankfully, compassionate.  

She came into our darkened room. With news. Our baby, now named Sarah, had several characteristics that were of concern. Broad thumbs and broad toes. Her small size. What sounded like a heart murmur (she would later need open heart surgery at 6 months of age to repair a seriously malformed heart). She had consulted the medical library, and told us “I believe she has Rubinstein Taybi Syndrome.” She went on to itemize other characteristics described in the literature – significant mental retardation, short stature, heart issues, and language problems.

Our baby. How could that be? It all felt terribly wrong. In this moment, with these words, our lives felt shattered. We told her “We hope you are wrong.” Dr. Colwell looked at us and quietly responded “I hope I am wrong, too.” We later found out it was the first time she had ever given a diagnosis like this to parents.

However, this brilliant doctor had precisely diagnosed this rare condition, as confirmed the next day by a consulting expert. The following months were filled with feeding Sarah round-the-clock as we helped her gain weight for the open heart surgery that would be required to help her survive into infancy. Sarah had little suck reflex, and every ounce of pumped breast milk we got down was a celebration, compulsively tracked in spreadsheets we created. The cardiologist determined she would need extensive, life-saving surgery in not too many months. The immediate goal was to feed her as much as we could, to build up her weight to help her survive the upcoming surgery, but not to wait so long her body outgrew her heart’s ability to sustain it. Those months were a roller coaster of nurturing, waiting and watching. With so much energy spent on the baby, there was little time for Stuart and me to focus on our relationship. We were exhausted and heartbroken. I realized how fragile my dream of a stable home for my children truly was.  

Sarah survived this surgery, and many that followed. A couple of years passed, and it was time for us to consider whether we felt brave enough to risk trying to bring another baby into our lives. We desperately wanted another child, but knew our relationship would likely not survive another baby with as many health needs as Sarah. We were told it was extremely unlikely a second child would have Sarah’s genetic disorder, since it was a dominant, random mutation. After much soul-searching, and with the support of family and close friends, we took a leap. The first time around, we’d been eager and excited as most first-time parents are. This time, a cloud of worry hung over our heads.

When you’ve had an “adverse outcome” with a pregnancy, you become a fundamentally different couple– stronger, perhaps, but certainly more wary. A psychologist friend of ours calls parents who have had experiences like ours: “A different breed of cat.” A local hospital even had a special birthing class for couples like us, who wanted to prepare for a second birth but for whom there was an element of mourning connected with a previous birth. Many parents spend time debating whether they want a boy or a girl, or obsess over names. All we wanted was a baby who was healthy and a marriage that could survive the trials of a new addition.

Back in the mid ’80s there weren’t many tests you could perform to know whether your baby might have health problems, but Stuart and I chose to do everything available to us, including ultrasounds and amniocentesis. With one child with extensive special needs already in our lives, we would do anything to protect our young family from another, knowing that it may rip our marriage further apart. If the Counsyl test had been available back then, we would have done it in a heartbeat. I am grateful that this generation of parents, like our second daughter and her husband, has this information available to them if they want it.

After nine long months, I went into labor again. After a labor that felt like days (although my husband confirms it was less than twenty hours) the only outcome I wasn’t expecting was to have my baby delivered, cleaned up and handed back to me, to nurse in the privacy of a hospital recovery room. No monitors or doctors, just mom, dad and baby. Our OB, who knew the family history, called for a pediatrician to check her out in the recovery room: “Just because.” When he held her up in the air and she filled the room with an objecting cry, we were alarmed. He reassured us — “A lusty cry is music to a pediatrician’s ears.” After he left, our newborn baby energetically nursed at one breast, then the other, I burped her, and she calmly fell asleep in my arms. Just like that. So easy.

When Sarah was born with health problems, it tempered our ability to celebrate that birth. The happiness over our new arrival was overshadowed by our concerns for her survival and the recognition of significant challenges ahead. The second time around was very different: Laura arrived on her due date of December 30th. We called her our little tax deduction.The next evening some close friends snuck champagne into my hospital room for the best New Year’s Eve celebration we’ve ever had.

The Martini Family

Mary Martini has a degree in biology and has worked in healthcare administration in Minnesota for over thirty years. She is the proud mother of two “old babies,” one of whom now works at Counsyl. Her life experience has made her a firm believer in the value of genetic information in making health decisions.

Genetic Counseling: Up Close and Personal

2 May

I have always found my job as a genetic counselor to be rewarding. Most of my patients come to see me in a state of anxiety and stress, and after talking with them and doing whatever genetic testing we agree upon, most of the time I have good news to tell them. On those rare occasions when things do not go as hoped, I try to be there for my patients in whichever ways they want me to be.

Just 2 years after the start of my career, I was offered an opportunity that I could not turn down—not only to continue seeing patients, but also to serve as the genetic counselor for Yeshiva University’s up-and-coming Program for Jewish Genetic Health (PJGH). The PJGH is based in New York City and was established with the vision that nobody in the Jewish community facing a genetic health issue should be deprived of proper care due to lack of awareness, financial barriers, or difficulty in navigating the healthcare system. My roles within the PJGH would be to develop educational opportunities for the Jewish community and its leaders, and to see Jewish patients for genetic counseling and testing in the most affordable and accessible ways. As a Yeshiva graduate and Orthodox Jew, adding this ‘community’ component to my job has been a dream — I get to do what I love doing as a genetic counselor, and I also get to do it within my own community.

But, there are some challenges. Many patients come to me before considering a pregnancy, and as you can imagine, many of them are in their 20s and 30s. I myself am in my mid-20s, so many of my patients are my peers — friends, friends of friends, people I know from college or synagogue etc.  The New York Jewish community is in fact very interconnected which makes genetic counseling a bit uncomfortable for the patient.

During a genetic counseling session, a counselor will ask basic questions about who is who in the family and will construct a medical family tree. Counselors are trained to ask about each individual’s medical history and when things get complicated, they often ask follow up questions to delve more into the condition. We are not doing this to be nosy, but rather to assess whether the condition is hereditary and if so, what is the risk for the patient to be affected or to have a child with that same condition.

Some ‘intrusive’ questions that are asked in a prenatal or cancer genetic counseling session include: Are you currently taking oral contraceptives? How old were you when you started menopause? Have you had any miscarriages? Does your brother have a formal diagnosis for his autism? Would you be interested in being referred to a therapist or support group?

I find that my patients outside of PJGH are more at ease discussing medical issues with me than my PJGH ones. It’s easier to open up to a complete stranger than to a personal acquaintance, which makes sense to me. If I know in advance that something uncomfortable may come up, I will ask a fellow genetic counselor to see the patient instead of me. It’s impossible to always know in advance what will come up in a session. On days when situations like this arise, I find myself doubting whether I am the right liaison between genetics and my community. But in the interest of the patient and to do my job as thoroughly as possible, I cannot stop asking questions just because I sense that my patient is not comfortable.

Before I made the decision to take on the PJGH part of my job, I was on the way back from a successful screening event at the Jewish Theological Seminary with one of the founders of the PJGH. We were stuck in terrible New York traffic and we had a lot of time to chat. She told me the Jewish saying in Hebrew: “Kol yisroel areivim ze la’ze,” which roughly translates into, “We are all responsible for one another.” And how right she was. I formally accepted the position at PJGH the very next day and I never doubted it for a minute. How lucky I am that I get to use the skills I learned in school to help my own people — no matter how awkward it may get from time to time!

Esther D. Rose, GCEstie Rose received her undergraduate degree in Biology in 2007 from Stern College. She received her Masters in Genetic Counseling in 2009 from the Mount Sinai School of Medicine. Estie currently works as a genetic counselor and Instructor at Montefiore Medical Center and Einstein, where she specializes in reproductive and cancer genetics. Within the Program for Jewish Genetic Health, she is involved in community outreach and education, and screening events.

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