Bringing Cystic Fibrosis to Life: A Conversation with Kori Tolbert

10 May CF_FILM_DAY1_KORI_Select-414

We had the pleasure of speaking with Kori Tolbert after a company screening of the film Three Lives. What we learned about cystic fibrosis and Kori’s attitude towards her condition was truly inspiring.

CF_FILM_DAY1_KORI_Select-414.jpgQ: You share your personal story of living with cystic fibrosis so openly. What motivates you to do this?

A: It’s actually not easy to share so openly. There is a vulnerability that comes with sharing some of these details of my life. I feel that, and it’s a risk I willingly take because I know that sharing openly and honestly has the potential to let people in…in a more personal way. It helps spread awareness, not just about CF as a disease, but CF as a lived experience. Sharing my story is a way of giving the journey some meaning — taking all the “stuff” I have worked through and offering it out into the world. I’d love for my words and actions to make a difference, beyond my personal life. I’d love to leave some impact behind after I am gone. I think that motivates me to do what it takes to share my story in this way.

“I’d love for my words and actions to make a difference, beyond my personal life. I’d love to leave some impact behind after I am gone. I think that motivates me to do what it takes to share my story in this way.”

Q: What do you want physicians to know about genetic testing for cystic fibrosis?

A: I want them to know that it’s important to be truthful and open with their patients. Not every patient will want every piece of information, but let’s not deny it to those who do, based on preconceived notions of what people can handle. I want physicians to know that—as cliché as it sounds—knowledge is power. It’s important for physicians to really stay on top of as much of the leading research as they can in their field. Patients are depending on them to do so.

I also want physicians to know that kindness matters in healthcare, that the delivery of sometimes sensitive information can have an effect on how it is received by a patient.

And finally I want them to know that CARE is the most important part of healthcare. Kindness and consideration of what their patients may have to go through to really matters.

Kori_CANDIDS-73Q: How did the filming of “Three Lives” come to fruition?

A: I actually approached one of the producers at the UCO Media team a year or two ago about creating a film that didn’t just focus on the “hard” aspects of CF, but emphasized what those living with CF do to live an inspired life for another organization. We never made that specific film, but a year or two later, I was then approached about being one of the subjects of this film with for the Just Breathe Christmas Ball. (Just Breathe is an important local organization that helps people living with CF through grants towards medical expenses that are not covered by insurance.)

I think they did a beautiful job with the film. It was a great experience. The underlying goal was to show both the “pleasure” of living a life inspired, and the “pain” that comes with living with cystic fibrosis, and to do it from the perspective of three different lives. I think the film really evolved in its intention and message even while it was being filmed. Ultimately, the producers aspired to create a film not only about CF, but about the universal challenges that each of us face, and how our attitudes towards them can make all the difference.

“Ultimately, the producers aspired to create a film not only about CF, but about the universal challenges that each of us face, and how our attitudes towards them can make all the difference.”

Everyone on the UCO Media team was kind and interested and made me feel as comfortable as they could.

Q: You mentioned during your talk that you started a company that was inspired by your own relationship with medications. Can you tell us more about that?

A: Growing up in the medical system, I noticed that I had developed a sort of love/hate relationship with my medications, and I wanted to shift my thoughts in a positive way so that I could get the most out of my treatments and let go of what did not serve me. I began a labeling system as part of my own care, first writing “Love and Gratitude” on my IV med bags, and then applying this practice to all aspects of my care. It was a way of bringing my self back into the care plan, both by making choices about what I wanted to receive and how I would be in relationship to my treatments.

Booster Jots, my company, grew out of this simple but powerful approach to not only accepting one’s medical journey, but at the deepest level, being a part of it.

At a basic level, Booster Jots is a med labeling/empowerment program for children (people of any age really, but is geared towards children) who are going through treatments. Our company provides the tools for children to design their own labels, and infuse meaning into their daily routine. When parents or caregivers invite a child to think about what the child wants to incorporate into a particular treatment, it’s getting the child to engage with their treatment in a positive and helpful way. An example of this might be a child labeling their inhaler with “Super Powers”. Now, when they need a puff they can breathe in “Super Powers”. It’s adding an aspect of play and imagination into treatments which can sometimes even change the outcome of the treatment. Booster Jots can also be used as a tool to understand more about what’s going on emotionally for the child who is going through a treatment because we are literally asking the child to share what they want or need in their own terms that make sense to them.

“Our company provides the tools for children to design their own labels, and infuse meaning into their daily routine. When parents or caregivers invite a child to think about what the child wants to incorporate into a particular treatment, it’s getting the child to engage with their treatment in a positive and helpful way.”

Ultimately, I’d love to teach this concept to health care providers. Teaching this concept would be a powerful way to revolutionize our healthcare system — something all of you at Counsyl are very familiar with in your own way. I see teaching the Booster Jots concept to medical providers as calling on them to pay attention and see value in what patients want for themselves. I think getting health care providers on board will be even more powerful than patients and families using the concept on their own. As with any project of passion, there’s a longer story, and anyone interested in the extended version can find it at https://boosterjots.com/#kori’s-story.

Q: What are your thoughts about genetic testing for Kori Rickcystic fibrosis?

A: I believe in the importance of having information, and then making decisions that align with your personal values. My husband Rick and I had genetic testing done to find out if he was a carrier of CF. It was important to us to know our odds of having a child with CF before we began trying to have children. It turned out that Rick is not a carrier.

Since that time, I have experienced some shifts in my own health, and as a result, we are choosing not to be biological parents. That is a choice we made together as a couple, with information at our disposal.

Generally speaking, genetic testing might not be something that people have been comfortable talking to me about. (That has already started to change since giving this talk.) People may worry that I would take offense if they wanted to prevent having a baby with CF, as if that somehow would make my life with CF less valuable. I don’t believe that is the case. I can separate myself from the situation and see that parents wanting to prevent CF and wanting to know about their options is a very logical and smart thing for them to be considering, and I would tell them so. Once people know the information, I would also say that I trust them to take the action that feels right for them. I think I would have the same approach with anyone I was talking to, whether it was a friend, family member or stranger.

There are options now for couples to pursue having a biological child without CF. I cannot tell anyone what the right choice is for them, but I believe it is worth their consideration. Their life as a family, and their child’s life, could be very different depending on the steps they take or don’t take. If someone does turn out to be a carrier and chooses to get pregnant naturally knowing that information, I would tell them that it’s important that it can be life-changing to look into the resources now available for dealing with this condition, before they are faced with having a newborn that is diagnosed with CF.

As I have shared before, and would say again to others, living with CF is currently no easy job. It takes a lifetime of dedication. At the very least, it’s worth educating yourself about it.

Q: Anything else you would like to share?

I want to thank the Counsyl team for inviting me to share my story. It gives me hope to see a company like Counsyl making sincere efforts not to just “fight a disease” but to understand what it’s like for people who are living with the disease. That kind of interest and dedication is incredibly important in healthcare.

Three Lives – A Film about Cystic Fibrosis

This short film was funded and produced UCO (www.uco.media) in association with The Just Breathe Foundation (www.justbreathecf.org)

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

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

23 Feb JG Bio

 

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

How design is driving change in healthcare

11 Jan

design_for_good.png

Designing for healthcare can force you to rethink everything you thought you knew about how people behave. The industry’s dense thicket of lawyers, privacy regulations, and outdated technology is easily the most frustrating part of a designer’s job – but it also creates opportunities. And the chance to improve on the way healthcare is delivered is hugely motivating. Exhilarating, even.

These are a few of the conclusions drawn by the designers who recently spoke about what their jobs in healthcare mean to them. Hosted in San Francisco by Opower, Design for Good panelists included:

  • Moderator David Webster, who led IDEO’s global Health & Wellness practice
  • Jesse Silver, VP of Product for Omada Health, which focuses on promoting healthy behavioral changes
  • Susan Dybbs, Head of Design at Collective Health, which works to improve employer-sponsored health insurance
  • Laura Martini, Director of Product Design for Counsyl

The group weighed in a number of topics, including how to create a user-centered experience in a world where the fax machine can still call the shots, and how design can benefit in a mission-driven company culture.

If attendance is any indication, design in healthcare is a hot topic. Nearly 150 people packed the event. “It’s refreshing hearing from other designers facing the same kinds of challenges we are,” says Martini. “Many of the ‘best practices’ in design – like short onboarding flows or clever website animations – don’t make sense in medicine. Working in this space gives you a chance to reinvent what good design looks like.”

Below are a few clips from the event.

What challenges are specific to designing for healthcare?

 

No designer can work effectively to improve health care without first becoming familiar with the regulatory environment. Developing an understanding of everything from HIPAA, to FDA requirements, to insurance coding is simply part of the job. The result can be a pace that’s “a little bit slow-moving at times,” says Jesse Silver.

But challenges can also turn out to be opportunities. Martini talked about Counsyl’s decision to improve healthcare delivery by taking on the industry’s price transparency problem.

Says Martini, “It shouldn’t take Silicon Valley engineers and a lot of time and resources and years of effort to be able to give patients a simple answer to the question, ‘How much will this cost me?’”

What can users teach us about designing for healthcare?

 

In a world where technology is helping businesses everywhere achieve frictionless transactions, it can be a struggle for designers to keep in mind that’s not what always works in healthcare. Sometimes patients reject slicker and faster in favor of deeper relationships with a company, as Jesse Silver’s team discovered in the course of working with diabetics to make healthy lifestyle changes.

“We have people calling up to tell us they want the onboarding process to be longer because they want us to understand them,” says Silver.

And in many clinics the fax machine is still a critical part of clinical workflow, says Martini, which means “you have to design fax-first.” In healthcare, it’s about facilitating human-to-human interaction and not just coming up with solutions to enabling technology.

How can the desire to make the world a better place fuel good design?

 

Each designer on the panel noted the advantages that come from working for a mission-driven company. They credited the “desire to make the world a better place,” in Martini’s words, for not only inspiring designers but for creating a corporate culture that supports good design.

“Designers, I think, by nature are passionate and usually driven by some mission,” says Jesse Silver. “And so, if they’re aligned with your mission, then design flows more smoothly throughout the entire organization.”

Design for Good: Rethinking Healthcare

If you’ve got time, grab some popcorn and check out the entire event.

 

 

Counsyl Appoints Ted Snelgrove as Chief Business Officer

8 Jan

Ted

SAN FRANCISCO–(BUSINESS WIRE)–Counsyl, a health technology company that offers DNA testing for diseases that can impact men, women and their children, today announced that Ted Snelgrove has joined the company as Chief Business Officer. With more than 25 years of commercial, product management and team leadership experience, Mr. Snelgrove will be responsible for driving product management and commercial strategies for Counsyl.

“As we’ve grown rapidly, Ted’s experience and seasoned operating instincts are directly relevant,” said Ramji Srinivasan, cofounder and chief executive officer of Counsyl. “With his help, we can continue to scale the company to serve millions of new patients and tens of thousands of physicians.”

Mr. Snelgrove has deep experience in the molecular diagnostic sector, having built and led the original commercial team at Genomic Health that created and launched the Oncotype DX product line. He later helped build Crescendo Bioscience — now part of Myriad Genetics — where his Team developed a strong disease management franchise in rheumatology with the Vectra DA system. Ted also served as CEO at CellScape, an early player in the NIPT market. Most recently, Ted was the Oncology/Hematology Business Unit Head at Jazz Pharmaceuticals, where he led a fast growing division focused on hematologic malignancies and stem cell transplant. He got his start in the industry at Eli Lilly and progressed through commercial and strategy roles at Immunex, Amgen and ALZA. He received an MBA in Marketing from the University of Michigan and previously served as an officer in the US Navy.

“I’m excited to join Counsyl, as it aligns with my passion of being part of a high growth, mission-driven company,” said Snelgrove. “I look forward to working with the Counsyl leadership team to drive innovation that makes DNA testing more accessible. Ramji has assembled a great team and I am honored to come in at this stage and help the Company move to the next level.”

Counsyl offers DNA testing for key times in people’s lives – for those starting a family, and for those at risk for inherited cancer. For more information on Counsyl, please visit www.counsyl.com.

About Counsyl

Counsyl is a health technology company that offers DNA testing for diseases that can impact men, women and their children. The Counsyl philosophy is simple: screen for diseases where advanced knowledge makes a difference in health outcomes, whether it’s changing a behavior, pursuing preventative measures, or simply preparing for what lies ahead.

The Counsyl team includes an accomplished group of problem-solvers — top engineers, scientists, and designers — who are taking the lead on building the modern clinical laboratory. Scientific rigor, custom robotics, and software are at the heart of every Counsyl product, resulting in better, faster and more affordable screens that are broadly accessible. Beyond the laboratory, Counsyl offers doctors and patients a technology platform for results delivery in real time, with on-demand access to board-certified genetic counselors.

Counsyl has screened more than 500,000 patients and served more than 6,000 health care professionals in its CLIA-certified, CAP-accredited and NYS CLEP-permitted clinical laboratory. The company has raised a total of $102 million and is privately backed by RSTP, Goldman Sachs Asset Management, Founders Fund, Felicis Ventures, David Drummond, and other high profile investors.

World Technology Summit Awards Counsyl for Innovation in Health & Medicine

25 Nov

What do 3-D printing of soft tissues, space travel to Pluto and population screening for rare diseases have in common? One word: innovation. Last week in New York City, some of the brightest minds across the globe gathered for the World Technology Summit, an inspiring two-day event featuring short talks from scientists, engineers and entrepreneurs aspiring to better the world. Speakers included Craig Venter, one of the first scientists to sequence the human genome, Jennifer Doudna, pioneer of CRISPR technology, and our very own, Shivani Nazareth, talking about what Counsyl is doing and why it matters.

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Three main themes dominated the stage environmental sustainability, genomic health, and the future. One panel was aptly titled, “The World in 2025, 2035, and 2045.” What does that look like? It’s world where carbon emissions are reused to create drinkable water, plastic is highly degradable, farms are vertical and sustained in warehouses. On the genetics front, it’s a world where everyone has access to important information about their DNA, and genes can be used to predict more than just health susceptibilities. And finally, it’s a world that expands beyond the earth, perhaps a time when our grandchildren will look at our planet from afar and say, “that’s where my parents’ parents were born.”

Gabe_Shivani_WTN.jpgAt the end of the summit, a black tie gala included awards for innovation in various categories, including “health and medicine” for which Counsyl won. A perfect end to an exhilarating evening, and an award that could not have been earned without the hard work and commitment of each person who makes Counsyl thrive. Well done, team!

 

A long search leads to a diagnosis and the birth of a foundation

13 Nov
Melissa and her daughter Ginny.

Melissa and her daughter Ginny.

When my daughter Ginny was born seven years ago I immediately knew something wasn’t right. Call it mother’s intuition. She failed her newborn hearing test and, as she grew older, we learned she had poor muscle tone, trouble feeding, and struggled to meet basic milestones.  She developed very slowly, but steadily made small amounts of progress.

It would take two years before we knew what was wrong.

Before her first birthday, we had started what I have come to call our diagnostic odyssey. We saw an otolaryngologist, neurologist, geneticist, neurosurgeon – and the list went on and on.   

We did an MRI of her brain and it was abnormal. The neurologist thought she’d had a stroke in utero and wasn’t all that concerned. But I pushed for more physical therapy, more occupational therapy, and more speech therapy. I knew something wasn’t right.

Our local geneticist put Ginny through another round of testing. By this time we knew she had vision as well as hearing loss so Ginny was tested for Leigh Syndrome  and Usher Syndrome. We kept working and evaluating her, and I kept learning more about various genetic diseases.

We finally got a diagnosis in May 2010, just before Ginny turned two. She had Peroxisome Biogenesis Disorder – Zellweger Spectrum Disorder (PBD-ZSD), a genetic, terminal, neurodegenerative condition that affects all major systems in the body. Sensorineural hearing loss, vision loss, retinitis pigmentosa, kidney and liver issues, osteoporosis and adrenal insufficiency can all be symptoms of PBD-ZSD.

I told our doctor, “I really need to talk to another parent.”

It was a terrifying and daunting diagnosis to receive as a parent. We dropped everything and drove to Baltimore to meet with a physician who had experience with PBD-ZSD at Kennedy Krieger Institute at Johns Hopkins University.

He evaluated Ginny and answered all our questions, which included “How long will she live? Will she lose all her hearing and vision? Can we have other children?”  At the end of our three-hour visit with him, I asked whether he could give me the name of another family going through this. I told him, I really need to talk to another parent. He gave me the name of another mom. That night I connected with her and shortly afterwards we launched The Global Foundation for Peroxisomal Disorders.  

The mission of the GFPD is to foster research on PBD-ZSD and provide support to families facing this devastating disease. The GFPD just celebrated its fifth birthday and we have accomplished much in a short period of time.  We’ve hosted several Family and Scientific Conferences and granted $140,000 to researchers looking for viable treatments for PBD-ZSD.

Five of my relatives have been tested by Counsyl and I believe there will be several more.

Ginny passed away in April so it has been a challenging year. Her death has motivated my extended family to get the Counsyl test and find out whether they, too, are carriers for this disease. I recommend Counsyl because the PEX 1 genes can be detected along with a myriad of other genetic diseases. Five of my relatives have already reached out to Counsyl and I believe there will be several more. I come from a big family, many of whom are in the process of getting married and thinking about having children.

I was never screened when I was pregnant with Ginny. I asked my doctor about prenatal genetic screening because my husband’s mother died of ALS. I was told “You’re healthy and have no family history of genetic disease. It’s not something you need to do.” Here’s what I now tell anyone who will listen: “The best thing we can do to combat genetic disease is to make sure babies aren’t born with one.”

-Melissa Bryce Gamble

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