Growth and Progress for Patient Care

As 2015 approaches and we conclude our 25th anniversary year, the clinic has added two new positions that reflect steady progress for the care and support of our patients!

Karlla Brigatti joined CSC this past October as our first genetic counselor. With Karlla’s help, the families we serve will gain a deeper understanding of new diagnosis, risks within their family, and how our team is working towards treatments and preventative strategies. Karlla is also helping to organize research efforts with Drs. Strauss and Puffenberger so that we can find answers faster and make the most effective use of advanced technologies.

Mindy Kuebler joined CSC this past November as our second laboratory technician. With the growth of the clinic’s molecular lab (DNA testing), Mindy brings a vital skill set to our diagnostic capabilities. She is responsible for daily clinical research testing including DNA isolation, sanger sequencing, cytoscan arrays, and light scanner assays. Mindy is also helping to verify samples sent for exome sequencing, our most advanced tool for identifying new disorders. Last but not least, Mindy is now organizing the clinic’s journal club, a new weekly ritual for our clinicians and scientists. New scientific literature is presented and discussed to keep our team up to date with the latest advances!

These wonderful additions to the team are made possible through a new collaborative initiative with Regeneron Pharmaceuticals. With the company’s help, we are now receiving exome sequencing for the next 3 years and operating support to fund our most important asset – our talented staff. Despite all the progress made, 50% of our patients are left without a molecular diagnosis. Regeneron has invested in our unique approach to clinical care and research so that we can begin to uncover a molecular diagnosis for many more children.

Patient care at CSC begins with diagnosis and prevention!

3 years of “Hearing” with Nemours

In November of 2011, a team from Nemours Alfred I. duPont Hospital for Children came to see patients at the clinic suffering from hearing loss. 3 years later, we have worked together to help over 60 families and have published two peer-reviewed scientific papers, including a novel hearing loss gene.

“The Clinic for Special Children is a unique place of healing that offers the opportunity to identify and habilitate hearing loss in a population of children that could not otherwise be served,” says Dr. Robert O’Reilly, pediatric otologist at Nemours. “The clinic’s paradigm for effective use of medical resources has pushed our team to develop new modes of delivery for cochlear implant patients, which serves as a model for the broader population.”

This year, Nemours’ annual “Hear We Go” 5K raised over $20,000 for hearing research, family education, and much needed equipment. To help the clinic, Dr. O’Reilly and the team from Nemours have donated funds to supply the clinic with state of the art audiologic testing and hearing aid dispensing equipment. hearwego

“The clinic is a special place for me because our research efforts are always driven by patients and families,” says Dr. Thierry Morlet, Head of Auditory Physiology & Psychoacoustics Research Lab. “Nemours and clinic staff work collaboratively, combining pediatric sub-specialty care with the latest in hearing research technologies.”

Patients at the clinic now come for regular check-ups with our doctors and then walk down the hall to visit a team of sub-specialists like Drs. O’Reilly and Morlet. Collaboration and sub-specialty integration have become the key ingredients to solving complex problems for our patients. From early hearing interventions like digital hearing aids and cochlear implants to the discovery of novel hearing loss genes – our clinical care continues to drive research, and our research leads to better outcomes for children.

We are grateful for the generous support and collaborative spirit from our friends at Nemours, and we look forward to many more successful translational research projects to come!

PICTURED L-R: Erin Field, PA-C, Robert O’Reilly, MD, Thierry Morlet, PhD, and Ethan Basset, MD

Thank you for a Record Auction Season!

30,000 donuts sold, 900 lbs. of whoopie pie filling prepared, chicken BBQ sold out by 1:00PM, over 1,650 bidders and over 7,000 attendees

Just a few unbelievable statistics from our Lancaster County benefit auction! We are grateful for the support of so many friends last Saturday – a record year in every way. Our staff was especially moved by Dr. Puffenberger’s first-ever auction speech, and we all feel privileged to serve special children throughout Pennsylvania, across the country, and around the world.

On the clinic’s 25th anniversary, we thank you for all that you do to support our mission.


A Day in the Lab

I feel a prick as the needle is quickly inserted. Red trickles out as the sun moves in, beginning my day in the lab at the clinic.

My goal is to learn about genetic testing – why that is so important and how the clinic does it in a way that differs from the majority of research labs. The children come with nothing more than symptoms, the doctors have to tell them why those are showing up, and the lab is the place to find the answers. And I am acting the role of geneticist, biochemist, and laboratory technician. But since it is my DNA, I am also playing the part of patient.

Here’s what I found.

-Genetic testing is an astoundingly long and meticulous process.

Becky, the laboratory technician, guides me in the use of a device called a centrifuge to remove from my blood its red blood cells and undissolved proteins (the molecules the do the work of cells). We add many chemicals using a hand-held gadget called a pipette to suck up less than an eighth of a teaspoon of fluid, shaking the tube with the help of a vibrating Vortex machine to create a homogenous mixture. After many steps in what seems like an uber-recipe for chocolate souffle, I end up with a tiny opaque corkscrew, the width of a fingernail. My DNA! I cannot believe that something so tiny, the consistency of something I would blow into a tissue, holds all the information that makes me who I am and the potential for whom I will become.DSCF5587

-DNA mutations can be horrific

Becky and I tested my amino acid levels, which can be thought of as the building blocks of proteins. If I had had an amino acid called L-alloisoleucine in my plasma, I would have been diagnosed with Maple Syrup Urine Disease, a horrific condition that plagues roughly 1/400 Old Order Mennonites as well as children throughout the world. The name comes from the sweet odor of the urine and ear wax. If untreated, the disease can cause seizures, coma, and death. With time and tremendous effort, the Clinic came up with a nutritional supplement that can work around the altered amino acid. The team now tests its infant patients for the disease so treatment can begin before the child is 24 hours old.

-There’s so much “stuff” you can do to DNA

Adam, the Clinic’s Administrative Director and Laboratory Scientist made many, many copies of my DNA in a machine that performs the so-called Polymerase Chain Reaction. It is something like a molecular Xerox machine that reproduces me-in-a-test-tube, over and over. I am cloning myself by amplifying my DNA. How cool!

-DNA codes for not only diseases, but also features

Adam and I “melted” apart the two strands of my DNA, tracking the temperature at which the melting occurred. That gives a clue as to whether or not a mutation exists. We tested my DNA for a mutation that causes Maple Syrup Urine Disease. Thankfully, I was negative for this mutation. I am however, a carrier for blue eyes (so my future children may be blue-eyed).

-I can eat cheese without fear

Adam and I analyzed a short section of DNA that resides in my mitochondria (Yep DNA is present there as well and in the nucleus of cells). I remember from my science classes at Brookline High that mitochondria are the hot dog-shaped structures that act as batteries for cells. From that test, I discovered that I am lactose tolerant, unlike most of the world. That means that my plans to study abroad in France will fill with great joy, as I scarf down plenty of chèvre on my baguette!

Why does the clinic need its laboratory, even more than I need my cheese? Because to the kids who come to the clinic wanting answers for their problems, DNA analysis can provide many. I learn that most clinical labs -the ones where you get pregnancy or cholesterol tests – do not do routine genetic or amino acid testing. Yet, when uncovering genetic illness, knowing the DNA-make-up is everything. The clinic charges money for these tests, but it is the bare minimum of the cost of the test itself. Thus, the Clinic works hard to get the extra money to cover the time and work of Becky, Adam, and others in the lab. That’s where the annual auction and donations come in. The Clinic staff helped me understand. Hopefully, my experience will help you.

I now know that I don’t have Maple Syrup Urine Disease, am a carrier for blue eyes, and am lactose tolerant. I am a couple steps closer to discovering who I am. Who will I be? Someone who makes it part of her life to champion causes like the powerful work of this tiny lab.

10 Years of Live Transplants with Children’s Hospital of Pittsburgh

Over 80 liver transplants and counting for CSC patients and the talented team at the Children’s Hospital of Pittsburgh led by Dr. George Mazariegos!

2014 marks the Clinic’s 25th Anniversary, but it also marks 10 years of hope for patients with Maple Syrup Urine Disease and Crigler-Najjar Syndrome. Like many great scientific discoveries, this story begins by chance. An early MSUD patient needed a new liver as a result of vitamin A toxicity. Our doctors hypothesized that a new liver could also help correct MSUD’s unique metabolic problem, but this was only an educated guess. Not only did the liver transplant save this patient’s life, the transplant effectively cured her MSUD. Overnight, she was freed from daily medical formula, a low protein diet, and frequent blood tests.

Another surprising twist to the story is that many MSUD patients are able to donate their liver to the much needed pool in what is known as a “Domino Transplant.”

In essence, our MSUD patients are given a new lease on life while also saving another in the process.

We continue to search for new ways to use liver transplants as a therapeutic tool for our community’s children. The next 10 years of collaboration hold great promise for patient care and scientific discovery. Many thanks to the Children’s Hospital of Pittsburgh and to the many families who came to celebrate this week!

From Lancaster County to Georgetown University

Editors Note: Elizabeth was accepted into Georgetown University, and starts her freshman year this fall. She chose to write her college essay on her experience at the Clinic, and we wanted to share this with you as part of her wonderful Rumspringa blog. Congratulations, Elizabeth! 


As I hold the test tube to the light, I see it: a tiny opaque ribbon, the size of a fingernail. Just an hour ago, this had been my blood. After pipetting chemical after chemical, pouring, mixing, shaking, and filtering, I now had my “little ribbon,” my DNA, which holds all the information of who I am and the potential for who I will be. At this moment, the spiral of my life is in my hands. And I know I am unique.

I came here to the backcountry of Strasburg, Pennsylvania to understand this individuality, not in a chemical sense, but rather in a communal one. Here lies the Clinic for Special Children, a pediatric practice serving the Amish and Mennonites. Erected, literally, in the middle of a cornfield, the Clinic is unique in using high-tech tools to discover the roots of genetic illnesses in patients who drive horses and buggies. I journeyed to the Clinic to get a taste of how special these children really are, whereupon I put myself in their shoes, testing my own DNA for the same genetic illnesses that they might have.

In the beginning, this opportunity seemed like a long shot. The Clinic has an internship program, however, it is limited to undergraduates and medical students. As a rising twelfth grader, I loved science and children. I wanted to experience what it is like to help in a medical setting. Thus, I created a plan to launch a social media campaign and drafted a proposal to raise awareness and money for the Clinic’s mission. I would shadow the doctors, work in the lab, meet the families, and soak up anything I could. With that information, I would create a blog, Facebook messages, and Instagram posts. The Clinic staff was intrigued. And there I was in the lab, testing my DNA.

From my “little ribbon,” I learned that I carry the genes for blue eyes, lactose tolerance, and a common mitochondrial mutation. I also discovered that I do not have a severe genetic condition called maple syrup urine disease, thank goodness. In the Clinic, I came to know the importance of cultural understanding and bedside manner, as pediatrician Dr. Kevin Strauss sleuthed and explained serious ailments to white-bonneted and suspender-clad patients. I also ventured out into the community. I ate pizza in the homes of three Amish families, rode in a pony cart along with Amish children, drank milk straight from a cow’s udder, and helped can peaches. DSCF6903

These moments wove together to teach me the values of community and culture in relation to individuality. I come from the “Brookline, Massachusetts bubble,” where high school is a vehicle to jam-pack a resume by volunteering at soup kitchens, tutoring underprivileged children, or organizing bake sales to help African children buy goats. All of this check-marking has become so routine as to be commonplace. I wanted to break that mold.

I arrived hoping that the Clinic could help me step outside the bounds of my environment, which insists on excellence at any cost. The community welcomed me and made me feel more than excellent. I felt special. Now I know that whatever I do with my life, I will carry this feeling with me and, most importantly, create the means to offer it to others. I can say now that I want to foster a career in which I apply scientific knowledge and share it with others, while working with different cultures. Maybe I will incorporate art therapy into a clinical practice, serving minorities, or teach science to foreign students. I cannot predict the particulars, but I do know this: to be unique in Brookline language is to stand out, but to be special in Clinic terms is to join in, becoming one with something much larger – a community that values me for who I am and fits so tight that we achieve excellence together.

Three Top Female Scientists from Franklin & Marshall College

Franklin & Marshall College is one of the Clinic’s closest friends and collaborative institutions. Since 2006, Drs. Puffenberger, Strauss, and Morton have co-taught a capstone course in biology at the college called, “Plain People & Modern Medicine.” The Clinic is also integrally involved in F&M’s second Howard Hughes Medical Institute grant (HHMI), which helps to fund key research projects leading to faster diagnosis and better treatments for our patients.

We believe our shared investment in education and research is crucial for future clinician-scientists, and we have three top female scientists to prove it.


Rebecca Willert (Becky) joined the Clinic’s team in 2012 as our Laboratory Technician after graduating from F&M with a bachelor’s of arts in biology. Becky was one of many talented students who worked in Professor Rob Jinks‘ lab and also took the Clinic’s biology course during her senior year. Because of Becky’s work in the Jinks lab, she is now a published author on our 2012 PLoS One publication. We will greatly miss Becky’s keen skill in the laboratory, but we are glad she is continuing her education at Drexel University’s Physician Assistant Program!

Abigail Benkert (Abby) was our 2013-2014 Avery Fellow. She too took our “Plain People & Modern Medicine” course, and she graduated from F&M in 2013 with a bachelor’s of arts in neuroscience. Like Becky, Abby also developed her scientific rigor by working in the Jinks lab at F&M. Over the last year, Abby has led independent research on a disease called Congenital Adrenal Hyperplasia (CAH). Her work is helping to define new treatment protocols for this disease that will improve the care for many CSC patients. We are also fortunate that Abby has decided to stay at the Clinic as our laboratory technician for one more year prior to medical school.

Nancy Presnick (pictured right) is the latest example of a top female scientist from Franklin & Marshall. DSCF3400Graduating just two months ago with a bachelor’s of arts in neuroscience, Nancy is spending ten weeks at the Clinic. She is the recipient of the Eyler Award for biochemistry, biology, and chemistry from F&M, which has funded her summer research at CSC. She is helping to develop a new test for ACTH, an important hormone in the management of Congenital Adrenal Hyperplasia. Nancy is also helping Dr. Puffenberger with clinical diagnostic testing and genetic sequencing. Not surprising, Nancy is another Jinks lab graduate, and she also took our course during her senior year.

A winning combination – The Jinks Lab, the Clinic’s capstone course, and independent research that helps to improve the lives of children.


We are grateful for our continued partnership with Franklin & Marshall College, and we thank Becky, Abby, and Nancy for their inspiring dedication to our mission! These bright, young minds represent a new generation of clinician-scientists that will propel our work forward for years to come.


The Summer Newsletter is Here

Hot off the presses, it’s our summer newsletter! If you didn’t receive a copy via snail mail, you can download the PDF here. We have included 25th Anniversary highlights, personal stories from our research fellows, a welcome to our new pediatrician, and many other great updates on research and collaborative efforts. The newsletter has kept our friends up to date since the beginning, and we hope you enjoy the latest edition!

Download the PDF here → Summer Newsletter

A New Voice in the Front Office

We are pleased to introduce Yalonda Kosek as the Clinic’s new Medical Receptionist. Yalonda started this April and brings over 5 years of experience to the Clinic’s front office. You will hear her friendly voice whenever you call the Clinic, and she’ll be happy to help with scheduling a visit or connecting you to the rest of the CSC team. Yalonda is also a big help to Erica with day to day clinical operations!

For almost 4 years, Adam Heaps has been a key asset to the Clinic’s laboratory. Adam started as our laboratory technician and was quickly promoted to laboratory scientist as he helped to coordinate much of the day to day clinical and research testing. We are now pleased to share that Adam has taken on even more responsibility as the Clinic’s Administrative Director. Our longtime Executive Director, Caroline Morton, is transitioning her administrative duties to Adam’s capable hands, but Caroline will continue at the Clinic as our co-founder and head writer for the Clinic’s newsletter.

In our 25th anniversary year, we also celebrate a growing, talented, and dedicated team!


We’re Hiring!

Calling all Genetic Counselors & Laboratory Technicians!

Please see the details below, and send a cover letter and resume to Adam Heaps:


Position: Part-time Genetic Counselor / Project Coordinator.

The position is part-time (3 days a week), Monday – Friday, 9:00 AM to 5:00 PM.

The Clinic for Special Children is a non-profit medical and laboratory service for children with complex genetic disorders, primarily in the Mennonite and Amish communities.  The Clinic serves children and families by translating advances in genetics into timely diagnoses and accessible, comprehensive medical care, and by developing better understanding of heritable diseases.  More information about the Clinic’s mission, services and research can be found at

The Clinic is looking for a highly motivated individual to join our team as a “Genetic Counselor / Project Coordinator.”  The individual would work closely with medical and laboratory staff to coordinate all aspects of a collaborative exome sequencing project.  The position will be available for 3 years pending funding.  Responsibilities will include: constructing family pedigrees from various sources, determining possible inheritance patterns, tracking project outcomes, tracking patient progress through the study, determining genetic risk for individuals and families, educating families about genetic testing technologies and genetic disease risk, ensure patients are properly consented and follow IRB and study guidelines.

An applicant must have:

  • M.S. in genetic counseling
  • Board certification by the American Board of Genetic Counseling (ABGC)
  • Excellent clinical skills and the ability to explain complicated medical/genetic concepts in a simple way
  • Experience with exome sequencing data, incidental findings and standard genetic reporting guidelines
  • Experience and knowledge of various genetic technologies
  • Excellent organizational, multi-tasking and teamwork skills


Position: Full-time Laboratory Technician

The position is full-time, Monday – Friday, 9:00 AM to 5:00 PM.

The Clinic for Special Children is a non-profit medical and laboratory service for children with complex genetic disorders, primarily in the Mennonite and Amish communities. The Clinic serves children and families by translating advances in genetics into timely diagnoses and accessible, comprehensive medical care, and by developing better understanding of heritable diseases. More information about the Clinic’s mission, services and research can be found at

The Clinic is looking for a highly motivated individual to join our team as a “Laboratory Technician.” The position will be available for 3 years pending funding. The individual would be responsible for completing various molecular assays in a timely fashion using established protocols. Responsibilities will include: Sanger sequencing, running microarrays, primer design, genotyping by high-resolution melting curve analysis, and DNA isolation from whole blood.

 An applicant must have:

  • B.S./B.A. in biology, chemistry, biochemistry or a related field
  • Strong knowledge and interest in the genetic causes of human disease
  • Experience with molecular techniques and assays
  • Experience working in a laboratory setting
  • Excellent organizational, multi-tasking, record keeping and teamwork skills
  • The ability to communicate clearly with medical/scientific professionals and families

 An applicant would ideally have:

  •  Experience working in a CLIA certified laboratory
  • Experience with Affymetrix CytoScan arrays

Please Welcome our 2015 Avery Fellow, Aarti Rao!

We’re happy to announce our 3rd Avery Fellow, Aarti Rao! Aarti comes to the Clinic from Swarthmore College with a Bachelor’s of Arts in Honors Sociology, Anthropology, and Biology. We were impressed by Aarti’s public health research within fifteen villages of Chura, Rajastan, a desert region in northern India. Aarti assessed the utilization of maternal and newborn health services, then developed and distributed “Emergency Birth Plans” for women in villages with high rates of infant mortality. Expanding on her work in public health, Aarti will help CSC to develop new measures of efficacy and educational tools for the children and families we serve.

The Avery Fellowship program is a vital component to the Clinic’s mission. By integrating talented students into our team for a yearlong program, we are sharing 25 years of advancements with the clinician-scientists of the future. In turn, talented students like Aarti are helping the Clinic to maintain a culture of innovation and growth. To learn more about the program, visit our research page:

We are grateful for the many individuals and private foundations who have supported the Avery Fellowship. If you are interested in learning how you can support this program, please contact Matthew Sware at 717.687.9407.

The Clinic’s Celebration Garden Grows!

DSCF9258It is often said that the Plain people of Lancaster County have something very important to teach us about community. We are fortunate at the Clinic for Special Children to be reminded of this each time a family comes to our office seeking care for a special child. It starts with our building, which was raised like a barn by donated materials and labor. We admire the families, neighbors, churches, and businesses that nurture young, vulnerable lives with the extraordinary support that takes form at our annual benefit auctions. Now in our 25th year, we recognize more than ever how the spirit of community can turn a great idea into reality, for children in Lancaster County and throughout the world. To paraphrase our co-founder, we are “…better scientists, better physicians, and more thoughtful people” because of what we learn from the communities we serve.

Our community of supporters grew this year as we embarked on a project to celebrate the Clinic’s 25th Anniversary. Many private donations and countless volunteer hours have made a beautiful garden come to life. We would like to publicly thank the local businesses that selflessly stepped forward. With no promise of headline news or advertising, these partners donated over $50,000 of design, labor, equipment, and materials for our garden:

Jim’s Landscaping – Design, site preparation, flagstone path, and plant material

L&L Restoration Stone Masonry – Masonry/Hardscaping

Huber’s Nursery – over 50 shrubs and perennials

Jordan Electric – outdoor lighting installation

Tomlinson Bomberger – design and installation of over 20 shrubs and perennials as well as a new Japanese maple tree

American Period Lighting – handmade brass light fixture and post

Garden Spot Village Retirement Community – mulch delivery, equipment, and volunteer leading

Miko Lawn & Landscaping – pruning, waste removal, and volunteer leading

Earth, Turf, and Blooms – volunteer leading

Tuscarora Hardwoods – 15 cubic yards of mulch

Isaac’s Famous Grilled Sandwiches – food for planting day

Subway of Greenfield – food for planting day

DSCF9267In truth, it is not just the Plain people who embody the spirit of community; this spirit is engrained within all of Lancaster County. On the Clinic for Special Children’s 25thAnniversary, we thank our friends, new and old, who have stepped forward to support our mission. In the words of Margaret Mead, “Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.

A very special thank you to Bob Goodhart, who helped us conceptualize the garden and make our planting day a great success for our volunteer families and staff.

You can read more about our planting day from the Lancaster Newspaper’s Sunday edition:






CSC Participates in the 2014 Designathon with PCAD

The Clinic is participating in the 2014 Designathon with the Pennsylvania College of Art & Design! For 24 hours starting this Friday, February 21st, students will work through the night to help the Clinic with several graphic and web design projects. We’re grateful for the opportunity to work with PCAD and look forward to sharing their work with our friends around the world! Read more about the Designathon here:

An English Girl’s Rumspringa – New Blog at CSC

Last summer, we were delighted to host Elizabeth Gura Gavin at the Clinic. A rising senior in high school, Elizabeth set out to write a personal account of the Clinic that would capture our work and mission for a younger readership. We’re excited to share her blog with you, and we think readers of all ages will enjoy her thoughtful reflections.

We’ll post a new entry each week and send updates to our Facebook Page. Please enjoy “An English Girl’s Rumspringa,” and pass it along to your friends and family!

Thank you for your hard work, Elizabeth!