Author: Adam Heaps

Eugene and Jeanette Horning sat down with Lancaster Farming news to talk about their unique journey raising a special child living with a random gene deletion, only found in 15 other people worldwide at the time of her diagnosis. Olivia is missing a gene that facilitates the brain-muscle connection which requires her to process information in a different way. The Hornings sought advice and care from Clinic of Special Children.

“The clinic is always available to us,” Jeanette said. “It’s hard to explain with words. … On our first visit, Dr. Strauss had so much compassion. We felt like he was caring for our hearts. It felt like family.”

Read the full article here

Dr. Katie Williams spent her last day at CSC on June 1st, traveling this week to continue her pediatric practice in her home state of Wisconsin. We would like to express our gratitude to Dr. Williams for her four years of invaluable service to the Clinic for Special Children through her devotion to the patients and families she’s served, her contributions to original scientific research and her passion for community education.

During her time with CSC, Dr. Williams collaborated with Dr. Devyani Chowdhury from Cardiology Care for Children to design and implement a globally recognized newborn wellness screening protocol. A speaker at Penn State University and PA Office of Rural Health’s 2018 Community and Public Health Conference, she was able to present this project and research to an audience of medical practitioners, professors, government and state representatives, non-profit executives, and students. She has contributed original research to two articles published in peer reviewed journals with three others in progress. Her work and interviews have been featured locally in Lancaster Newspaper, Ephrata Review, and Advertiser, nationally in Genome Magazine, and internationally through Gulf News Magazine out of Dubai.

Dr. Williams passionately involved herself in the education and empowerment of midwives across Pennsylvania. She worked with CSC’s Christine Hendrickson to organize three pulse-oximetry workshops for local midwives and hosted CME accredited midwife conferences at the Clinic. Through her care for Amish and Mennonite children living with rare genetic disease in Lancaster, Dr.Williams created lasting relationships with many families in the community and developed a deep respect and devotion to those she has served. She hopes to continue her care of children from the Plain community in her home state of Wisconsin. We wish her all of the best in her next endeavours.

Please join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a medical home for children living with rare genetic disease.

Register online here
Download our paper application here

Runners, joggers, and walkers are invited to join us for a 3.1 mile easy course starting and ending at the Clinic for Special Children in Strasburg Township along scenic country roads, winding through Lancaster County farmland. Participants will have full use of the closed road as they venture past vineyards, see an Amish schoolhouse, and pass by acres of picturesque Amish farms.

WHERE: The race begins and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.

TIMES: 5K Run/Jog/Walk starts at 8:00 a.m. with awards ceremony following the race.
Registration and packet pick-up will be open on race day from 6 a.m. – 7:30 a.m.

ENTRY FEES:
$25 if registered by Sept 1, includes goody bag and t-shirt (Entry and payment must be received no later than
September 1)
$30 after September 1 (including race day), includes goody bag and t-shirt while supplies last
FREE for children age 3 and under
Optional online registration available here (nominal service fee applies, closes at midnight, Wednesday, September 19)

PRE-PACKET PICK-UP: available Friday, September 21 between 4-7 p.m. at Clinic for Special Children

AWARDS: Medals will be awarded to: 1st overall male and female and top 3 male and female in the following
categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60+

QUESTIONS: Contact Keturah Beiler at kbeiler@comcast.net or 717-687-9407

CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.

If you can’t make the race and you’d like to support us, please SHARE our 5K event with your friends and family or Click Here for event sponsorship opportunities.

After months of development, the CSC laboratory is proud to announce two new tests for spinal muscular atrophy (SMA), tests that have significant implications for the services and care we offer to the patient families we serve. SMA is a devastating genetic disease that is found within the Plain community but also diagnosed world wide. The number one genetic cause of infant death, SMA affects motor nerve cells in the spinal cord and leads to the loss of muscle function. Diagnosed early, some of the debilitating effects of this disorder may be avoided with appropriate treatment. 

Volunteer Dominika Korulczyk worked alongside laboratory director Dr. Erik Puffenberger and CSC’s laboratory team, leading a project to devise two new genetic tests: a carrier test for Spinal Muscular Atrophy (SMA) and a test to distinguish the type of SMA a person is affected with. In the Amish and Mennonite populations, SMA is caused by a homozygous deletion of the SMN1 gene. Affected children inherit one deleted copy from each parent (and thus have no functional SMN1). The new test uses competitive polymerase chain reaction (cPCR) to assess the number of copies of the SMN1 gene (versus a non-deleted gene, ALB) that an individual carries. SMA carriers harbor only one copy of the SMN1 gene.

Thanks to the team’s work, we are now able to offer this customized genetic testing for SMA in our on-site laboratory at a very low cost. The new carrier test will be offered for the same price as our other carrier tests ($50). CSC’s laboratory team and clinical team are able to work together to make a fast and accurate SMA diagnosis, beginning treatment almost quickly and preventing the progression of symptoms for this rare genetic disease. 

In our spring 2018 newsletter, read the intimate story of Ken and Joanna Weaver’s journey with rare genetic disease, raising four boys with spinal muscular atrophy (SMA) in a vision of hope, joy, and love. Also in this issue, we reveal new services offered for patients and their families, auction news, details about our upcoming events, and progress updates on some of our ongoing research projects. We highlight two inspiring stories of outreach including CSC’s first international mission trip to Mexico and a collaborative newborn wellness screen project that saved a local life.

Read CSC’s spring 2018 newsletter here

Published this weekend by Lancaster Newspaper and LancasterOnline, read Dr. Kevin Strauss’s special feature written about CSC’s practical application of genomic medicine to develop innovative therapies for children living with rare genetic disease, ‘Case of a Brazilian boy, genomic medicine and a county clinic.’ Read the full article here.

Each year, CSC releases an annual report, expressing gratitude to all of our supporters and relaying the impacts of their generosity through stories. Today we are releasing our 2017 report. In the report we highlight the journey of a family with Spinal Muscular Atrophy, important advances in research, and the ways we have engaged the communities we serve. We are also presenting the story about the incredible impact one beautiful woman, Esther Davies, made on the Clinic for Special Children and the Plain communities through a lifetime of passion and advocacy. We are now sharing her story with a heavy heart as we learned of Esther’s passing last evening. We invite you to help us celebrate her through our thank you to Esther and her friend, John Thackrah found on page 13. On behalf of the board and staff of CSC and the countless children who have benefitted from her kindness, we wish to express our sincere gratitude and condolences to Esther’s friends and family.

Read CSC’s 2017 Annual Report Here

Midwifery Pearls: Caring for the Newborn

Clinic for Special Children’s 2018 Midwife Conference
Thursday, May 24th | 8:30 a.m. to 4:30 p.m.
at Clinic for Special Children in Strasburg, PA

*Please Register by May 18th

This event is designed to provide midwives with the most up-to-date information, emphasizing recent developments in midwifery healthcare practice and to provide key solutions to the latest challenges faced by midwives. We also present a comprehensive review of disease screening and management for commonly encountered diseases in Amish and Mennonite communities. This course is intended for certified nurse midwives, lay nurse midwives, and others interested in the care of newborns.

View the full conference brochure and agenda HERE

Register below with your credit card
or print and mail your registration form and check:

Checks written to: Clinic for Special Children
Mail to: 535 Bunker Hill Road
Strasburg, PA 17579

For additional questions about our conference, please contact:

Christine Hendrickson, RNC
E-mail: chendrickson@clinicforspecialchildren.org
Phone: 717-687-9407

Last week, Clinic for Special Children’s Dr. Kevin Strauss (Medical Director) and Teresa Rineer (Development Director) traveled to Scottsdale, Arizona to participate in a special philanthropic event organized to help children living with rare disorders and raise awareness about CSC’s work with rare genetic disease. Retired White Sox pitcher Jesse Crain and his wife Becky partnered with the Newkirk family to host a “Swing FORE the Kids” Topgolf tournament through the Crain Family Foundation. The money that was raised from the event will be used to help subsidize the cost of travel to CSC for children living with rare genetic conditions, helping them access the specialized care they need.

The Crain Family Foundation generously hosted this event in partnership with Kris and Maureen Newkirk, parents of a child cared for by our Clinic, Charlie Newkirk. Seeking the best care for their son living with a rare genetic disease called Glutaric Acidemia Type 1, Kris and Maureen traveled from Arizona to the Clinic for Special Children. Visiting CSC was a “game-changer” for Kris.

“Dr. Strauss met with us for three hours to examine Charlie and make adjustments to his treatment.  As the world’s foremost expert in GA1, he gave us a level of comfort that no other provider could possibly give to us,” Kris told the Crain Family Foundation.

The whole Newkirk family (Kris, Maureen, Henry, Paul and Charlie) graciously hosted Dr. Strauss and Teresa for a family style dinner on Sunday night before the Topgolf event. Kris and Maureen introduced Dr. Strauss and Teresa to several other families and children affected by a rare genetic disease, creating meaningful memories and lasting relationships. Read the rest of the Newkirk’s story here.

The Crain Family Foundation’s “Swing FORE the Kids” event on Monday evening, February 26th, drew a diverse crowd of at least 40 professional atheletes and coaches, community members, family and friends, and others who share a passion for raising awareness about rare disease. Attendees were offered the opportunity to play golf with celebrity athletes, bid on a variety of items through a silent auction, and enjoy great food, drink, and camaraderie in support of the Clinic’s cause.

Celebrity appearances included, but are not limited to, Jon Lester, Trevor Plouffe, Drew Butera, Brian Duensing, Mark Teahen, Paul Konerko, TJ McFarland, Jonny Gomes, Evan Longoria, Mark Melancon, Brandon Webb, Mike Sweeney, Chris Snyder, George Brett, Ron Villone, Mike Madano, Brendan Perlini, Gordon Beckham, Nate Jones, Matt Albers, Alex Cobb, and Hector Santiago!

See coverage of the event by “Good Morning, Arizona” here.

On behalf of the whole team at Clinic for Special Children, we would like to extend a heartfelt THANK YOU to everyone who helped to make this day possible and for welcoming us. It is truly inspirational to witness the manifestation of CSC’s mission come alive through the altruism of others both at home and halfway across the country. We couldn’t do what we do without you. Thank you!

Through a partnership between the Clinic for Special Children in Strasburg, PA, Cardiology Care for Children in Lancaster, PA, and midwives throughout the region, babies born at home are receiving vital wellness screenings and, if a problem is detected, get immediate medical care before they become critically ill.

The test, called pulse oximetry, measures the newborn’s oxygen levels to detect heart defects, lung disease, and infections. Mallory Sensenig of Denver, PA, realized first hand the importance of the screening when, within hours of delivering her daughter, Josephine, her nurse midwife, Danielle Malik, found the newborn’s oxygen levels below normal.

The little girl was immediately seen by Pediatric cardiologist Dr. Devyani Chowdhury of Cardiology Care for Children. Dr. Chowdhury did not detect any heart problems and recommended the baby to Heart of Lancaster. Baby Josephine was admitted to the Neonatal Intensive Care Unit where she was treated for fluid in her lungs. After two days, her parents were able to take her home to her four brothers and sisters.

On January 25, Josephine celebrated her one-year birthday and is a normal, healthy toddler. “Initially I was worried because this had not happened to my other children,” Mallory recalled. “But my mind was put at ease after we got to the hospital and she received the care she needed.”

The at-home wellness screening program was developed in 2015 by Clinic for Special Children Pediatrician Dr. Katie Williams and Dr. Devyani Chowdhury after Pennsylvania state law mandated, in 2014, that pulse oximetry screenings be performed at 24 to 48 hours of age as part of every newborn’s physical examination regardless of their place of birth.

Dr. Chowdhury’s protocol, based on models used in Europe and the Netherlands where there are many home births, requires screenings be performed before the midwife leaves the mother and the baby, typically when the baby is 3 to 5 hours old, and a second screening per the state requirement from 24 to 48 hours after birth.

While pulse oximetry screenings were readily available to babies born in hospitals, how were babies born in birthing centers or at home to be screened? The test is only reliable if performed using the right equipment and by trained personnel.

“Many midwives wanted to provide pulse oximetry screenings to the newborns but did not have the equipment or training,” said Dr. Williams. “Dr. Chowdhury developed the screening protocol and worked with the clinic to find initial funding to purchase the pulse oximeters. We held our first workshop to train midwives on using the equipment in September 2015.”

Since then, nearly 2,000 newborns have received wellness screenings by midwives. As a result of the in-home screenings, seven newborns have been identified with heart or lung problems and received care before potentially becoming critically ill.

The simple, noninvasive screening involves placing a soft band on the baby’s hand and foot to measure blood oxygen levels. It detects cyanosis, or blueness, that can be a sign of serious heart defects, lung disease, and infections in newborns that frequently cannot be seen by the naked eye, even by experienced midwives or obstetricians.

The doctors realized another benefit to the pulse oximetry screenings – in addition to identifying heart defects, the screenings also detected lung infections before children became symptomatic.

“There can be multiple reasons why there is low oxygen saturation in a baby’s blood level beyond congenital heart disease,” explained Dr. Chowdhury. “The pulse oximeter has empowered the midwives and helped them screen for conditions in addition to heart problems so that babies identified at risk can receive further medical attention and care.”

Currently, 33 midwives and Birth Care in Georgetown, PA, use 51 pulse oximeters while attending deliveries in Pennsylvania, Delaware and Maryland through donations from McDonald House Charities, Abby’s Foundation and Hershey Rotary.

Dr. Chowdhury noted the program is gaining global appeal, especially in countries where a large number of births are out of hospital and there is very high neonatal mortality. She first presented on the program in 2015 at the Global Health Forum in Geneva, Switzerland, and most recently in July at the World Congress of Pediatric Cardiology and Cardiac Surgery in Barcelona, Spain.

Article written by Frieda Schmidt and published by The Ephrata Review on February 14, 2018

Photography by Preston Groff Photography

As we strive to stay at the forefront of medical innovation and revolutionary therapies for complex genetic disorders, Clinic for Special Children becomes an important site for the first gene therapy clinical trial for Crigler-Najjar Syndrome in the world.

“From Blue Lights to Gene Therapy: The Intriguing History of Crigler-Najjar Syndrome” talks about the Clinic for Special Children’s role in this piece of medical history.

Read the article here

Patient focused research has always been an important component of CSC’s mission.  We strive to translate research and medical knowledge into practical benefit for the patient families we serve.  In order to better support our research programs, we have some exciting staff changes to announce.  A Research Operations team has been established to manage and organize ongoing and future research.  Karlla Brigatti, MS, LCGC has been appointed the Research Operations Director and will lead the team.  Karlla will also join the leadership team of the Clinic.  Millie Young, RN has been appointed the Research Nurse and will work with Karlla and the rest of the CSC team to achieve research goals.  Keturah Beiler, RN has moved from a part-time nurse to a full-time nurse and will be providing clinical support to Dr. Strauss.  We hope these changes will further advance our mission of serving children and adults who suffer from genetic and other complex disorders!

This week we celebrate a very important staff milestone: our laboratory director, Dr. Erik Puffenberger’s, 20th anniversary of employment at the Clinic for Special Children. Over the last 20 years Dr. Puffenberger, PhD has devoted his service at CSC to determining the genetic causes of disease in order to help improve and save the lives of those living with rare genetic conditions. For about eight years, he performed all functions of our laboratory by himself including genetic testing, scientific research, and laboratory analytics. He has contributed original research and findings to many peer-reviewed publications, sharing knowledge that has been translated into effective medical care. Because of his expertise and dedication, CSC is now able to offer affordable world-class laboratory services with unparalleled efficiency. Thank you for your service!

Please join me in welcoming Teresa Rineer, BS to CSC as our Development Director. Teresa graduated magna cum laude from Millersville University with her Bachelors of Science degree in communications and a concentration in public relations. She is currently a member of the Association of Fundraising Professionals.

As the Clinic for Special Children’s Development Director, Teresa is responsible for providing opportunities for support, stewarding philanthropic relationships, and serving on CSC’s leadership team. Prior to joining the Clinic, Teresa was the Associate Director of Development for a continuing care retirement community where she significantly increased revenues for special events and exceeded fundraising goals for the organization. She says of her service in development, “It is rewarding knowing that my work helps provide underserved individuals with state of the art care and essential services that they need and deserve.”

“I am honored to be a part of the Clinic Team and feel grateful to be able to share my passion for helping others, along with my professional experience and education in a way that will support the Clinic’s mission and help the patients at CSC. I look forward to building lasting relationships with donors, patients and their family members, as well as the Clinic’s staff and Board.”

Welcome, Teresa!

Auction Time is Near!

Join us for our 2018 auction season! Come out for days of fun, food, and fellowship.

7:00 AM Breakfast | 8:30 Auctions Begin | Physician Remarks and Quilts to Follow 

Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers at our auctions. A variety of food choices will be featured including chicken barbecue, freshly made pies, donuts, whoopie pies, ice cream and more! The proceeds from the annual benefit auctions are a major source of revenue for the Clinic for Special Children.

June 2, 2018 | Union County Auction
Buffalo Valley Produce Auction
22 Violet Road
Mifflinburg, PA 17844

Flower Auction and Rib Dinner | June 1, 2018
5pm-8pm

→ Directions
→ Sale Bill

June 16, 2018 | Lancaster County Auction
Leola Produce Auction
135 Brethren Church Road
Leola, PA 17540

→ Directions
→ Sale Bill

June 23, 2018 | Shippensburg Auction
Cumberland Valley Produce Auction
101 Springfield Road
Shippensburg, PA 17257

→ Directions

July 14, 2018 | Blooming Grove Auction
Blooming Grove Auction Inc.
1091 Free Road
Shiloh, OH 44878

→ Directions

September 8, 2018 | Blair County Auction
Morrison’s Cove Produce
174 Windy Acres Lane
Roaring Spring, PA 16673

→ Directions

Cindy Bo, MBA, a member of CSC’s board of directors and Chief Strategy & Business Development Officer at A.I. duPont Hospital for Children| Nemours, delivered a compelling TEDx talk with an inspiring message about how some of the greatest business lessons can been learned through life experience in the selfless acts of others. The lessons she speaks to are universal: “hustle for what you want to achieve, be humble always, honor diversity, embrace challenging but positive change, and always anticipate the needs of others.” Her talk serves as a tribute to those who sacrifice in order to provide us all with a better life.

Clinic for Special Children was featured in the Fall 2017 issue of Lancaster Physician Magazine for our partnership with WellSpan Philhaven in providing therapies for children who suffer from behavioral health challenges, many times coinciding with an underlying genetic condition. We partner with Dr. John Dolena and psychologist Jennifer Hailey, both pictured above in a photograph from Lancaster Physician’s article, to help children and families build the skills necessary to cope with and overcome behavioral issues or development delays. Read the article here on pages 10 and 11!

Lancaster Physician Fall 2017

Watch our newest video to learn about how the Clinic for Special Children helps to make medical care more accessible for the Plain communities. Talk by CSC staff members Dr. Kevin Strauss (Medical Director), Dr. Erik Puffenberger (Laboratory Director), and Adam Heaps (Executive Director) in Ephrata, PA.

Click Here to Watch the Video

The countdown to the 2017 Extraordinary Give is on! On November 17, 2017 donations will be accepted from 12 midnight – 11:59 PM as part of Lancaster County’s largest day on online giving. Every dollar donated at ExtraGive.org on November 17th will be stretch by a pool of at least $300,000 from the Lancaster County Community Foundation, Rodgers & Associates, and other corporate sponsors AND there are at least $50,000 in EXTRA prizes you can win for the causes you care about.

Donating is simple. On November 17th, visit ExtraGive.org at select ‘Clinic for Special Children’ as your non-profit organization of choice. If you would prefer to donate over the phone, please call the Clinic on November 17th between the hours of 9am and 5pm and we would be happy to receive your gift over the phone.

In 2016, nearly 60% of our revenue came from charitable contributions and benefit events.

Visit us on November 17th in Lancaster City at the Citizen’s Bank Fountain across from Lancaster Central Market for our 4th Annual Whoopie Pie Toss in celebration of the ExtraOrdinary Give!

For additional information, please contact Kim Calderwood at 717-687-9407 or kcalderwood@clinicforspecialchildren.org.

Join us and take a run along the scenic Welsh Mountain on Saturday, October 21!

The event is a 5k & 10k Run/Walk event at the Welsh Mountain Park/Community Center just outside New Holland. The run is through country roads with a great autumn view of the valley. Entrants are requested to bring 2 non-perishable food items along with the $15 fee for 5k, $20 fee for 10k, $5 fee for kids. Proceeds from the race supports the New Holland Boy Scout Troop 48. Donated food items are provided to the ESSN/New Holland Area Food Bank. Snacks, drinks, fruit, refreshments provided.

Registration: 8am – 10am Kid’s Fun Run: Starts at 9:30 am 5k and 10k Run/Walk: Starts at 10am

Click Here to Register!

Twelve-year-old Lewis Martin, living with a previously lethal disease (SMA), became the first child in the world to receive a new, effective medication through a specializing catheter designed by a physician that had been evaluating Lewis at the Clinic for Special Children. His story is one of hope, medical ingenuity, and the love and dedication of a group of physicians including CSC’s Medical Director, Dr. Kevin Strauss, who refused to give up hope. Read Lewis’s full story, read about our upcoming events and current research, or browse our bulletin board of special event photos in our fall 2017 newsletter here:

CSC Fall 2017 Newsletter

Matt Demczko, MD and Mike Fox, MD, two former fellow pediatricians at CSC, were featured in The Daily Item’s ‘Plain folk, complex problems: Valley grads doctor Amish families’ for their unique work on the cutting edge of care with the Amish community.

The Clinic for Special Children enjoyed the privilege of working closely with the two physicians who are helping lead efforts to open a new medical clinic in Dover, Delaware to serve the local Amish community. The new clinic will be the first of its kind to offer services directed toward children with special needs in southern Delaware. Designed and managed to closely replicate the Clinic for Special Children in Strasburg, the vision of the clinic is to provide a local, comprehensive medical home for medically complex Amish and Mennonite children in the Dover area, and to improve the health of the communities that they serve by utilizing translational research and modern technologies.

“There is so much to learn yet about caring for the Amish and Mennonite and the unique conditions they are faced with,” Demczko said. “We learn something new each day that helps make our practice better, which helps us make more and more of an impact with those who may need it most.”

Read about their unique opportunity, how they’ve overcome barriers to care, and their rewarding results here: Plain folk, complex problems: Valley grads doctor Amish families

Join us for our Blair County Auction, our last auction of the season! Come out for a day of fun, food and fellowship! 

Blair County Auction | September 9, 2017
Morrison’s Cove Produce
174 Windy Acres Lane|Roaring Spring, PA 16673

7:00 AM Breakfast | 8:30 Auction Begins | Physician Remarks and Quilts to Follow

Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers at our auctions. A variety of food choices will be featured including chicken barbecue, freshly made pies, donuts, whoopie pies, ice cream and more! The proceeds from the annual benefit auctions are a major source of revenue for both the Clinic for Special Children.

Candace Kendig

KaLynn Loeven

Here is a video WGAL News Channel 8 Susquehanna Valley, Pa featured on their 6 PM broadcast earlier this month. Although about 90% of CSC patients are from the Old Order Amish or Mennonite communities, around 10% are patients like Lucas and Davi. We strive to increase the quality of life and alleviate suffering for children with genetic disorders from all over the world, serving patients from 20 countries.

Click Here to Watch CSC’s Feature Video

A behind the scenes preview of the making of the video!

National Day of Prayer Community Breakfast

Scenic Village Conference Center @ Harvest Drive

3368 Harvest Drive, Gordonville, PA

7am-9am

Join us this Thursday for a free Community Prayer Breakfast for the National Day of Prayer in support of the Clinic for Special Children!

Breakfast will be served from 7am-8am with a prayer service to follow. Join in fellowship, worship, song, and prayer with local community members, special guests, volunteers, CSC staff, and worship leaders to commemorate this year’s National Day of Prayer.

Though there is no set fee for the event, donations will be accepted to benefit the Clinic for Special Children.

Thank you in advance for your support! We look forward to seeing you there!

Read the Clinic for Special Children’s Spring 2017 newsletter here! Featured in this issue are auction details including dates and locations, staff changes, exciting updates to CSC’s collaborative translational medicine projects, personal patient stories, letters, and testimonies, a local cardiologist’s inspiring story of courage, determination, and success, announcements about our upcoming events and meetings, and more!

CSC’s Spring 2017 Newsletter

Please join us for a lecture by the Clinic for Special Children on how we can come together to support special children by saving healthcare costs, while improving the quality and effectiveness of medical care in your community.

CARING FOR SPECIAL CHILDREN
IN YOUR COMMUNITIES
A Talk by the Clinic for Special Children (CSC)
2pm-4pm | April 22, 2017
Fairview Reception Center
141 Jackson Road, Lebanon, PA 17042
and
2pm-4pm | May 6, 2017
Martindale Mennonite Fellowship Center
352 Martindale Road, Ephrata, PA 17522

Learn about:

• What is new and exciting at the Clinic for Special Children!
• How the Clinic’s model of care creates a medical home for children living with rare genetic conditions
• How CSC makes difficult-to-access specialty medical services accessible to children with special needs
• How innovations in healthcare are being used to keep the children in your communities healthy
• What you can do to help

Refreshments and fellowship to follow talks. All are welcome.

We are delighted to present to you the Clinic for Special Children’s 2016 Annual Report. The past year has been a year of innovation and growth as the Clinic continues lead the world of personalized genomic medicine. Through a focus on providing comprehensive local medical care, integrating science and clinical medicine, and sharing knowledge to improve the health of children who suffer from genetic disorders, the Clinic for Special Children serves as a unique model for rare disease that continues to inspire physicians, scientists, and the communities we serve.

In 2016, the Clinic for Special Children’s pediatric clinical team provided specialized medical care for 1,083 active patients living with rare genetic disorders from 40 states and 17 countries. CSC’s laboratory scientists conducted invaluable research, leading to the identification of 33 new disease-causing genetic variants. The Clinic’s expanded capability for the provision of specialty medical services has helped strengthen its position as a trusted medical home in our community.

The inspiring story of the vitality of Conor Martin, a 3-year-old boy living with Maple Syrup Urine Disease, is a testament to the effectiveness of the Clinic’s unique model of personalized genomic medicine. “We are truly grateful to the Clinic for being our medical home. CSC is a haven where we can receive not only the medical care Conor needs, but a place that focuses on the emotional needs of the whole family,” says Conor’s mom. Read his full story and the rest of our 2016 annual report here: >>2016 Annual Report<<

Please join us in celebrating Rare Disease Day! This specially designated day is devoted to raising awareness amongst the general public, researchers, policy makers, and many others whose lives are impacted by rare disease. We hope that the day’s activities and campaigns serve as an inspiration and empower people in our community and beyond to make a difference in the lives of patients living with rare disease. We invite you to follow this link to make a gift in honor of Rare Disease Day! Thank you for your support and enthusiasm for a cause very dear to our hearts. Please browse our website to learn more about what the Clinic for Special Children does in our community to help patients living with rare disease every day.

We are excited to introduce to you Keturah Beiler, the newest member of our CSC clinical team! Keturah earned her associates degree and nursing certification through Harrisburg Area Community College. As a part-time registered nurse with the Clinic, she will be organizing and administering immunizations, assisting with general patient care, and will be supporting the specialists who volunteer their time to the Clinic. “Having grown up in a Beachy Amish household, it is exciting and fulfilling for me to think of giving back to members of the Plain community who have influenced who I am today. I am passionate about serving people and helping the most vulnerable among us, our children.” Welcome, Keturah!

Recently CSC hosted students, teachers, and administrators visiting from Juniata College in Huntingdon, PA who were interested in learning about our unique model of healthcare, research, and communications. This group represented a diversity of different health majors and professional backgrounds from the college. We were inspired not only by their passion and engagement, but also by all that this group has already accomplished in their own community. These are the faces of our future doctors, nurses, genetic counselors, health communications professionals, and nutritionists. We are very grateful to have been a part of their journey to make a positive change in our world.

Auction Time is Near!

Join us for our 2017 auction season! Come out for days of fun, food and fellowship at our 2017 auctions!

7:00 AM Breakfast | 8:30 Auction Begins | Physician Remarks and Quilts to Follow 

Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers at our auctions. A variety of food choices will be featured including chicken barbecue, freshly made pies, donuts, whoopie pies, ice cream and more! The proceeds from the annual benefit auctions are a major source of revenue for both the Clinic for Special Children.

June 3, 2017 | Union County Auction
Buffalo Valley Produce Auction
22 Violet Road
Mifflinburg, PA 17844

June 17, 2017 | Lancaster County Auction
Leola Produce Auction
135 Brethren Church Road
Leola, PA 17540

June 24, 2017 | Shippensburg Auction
Shippensburg Auction Center
1120 Ritner Highway
Shippensburg, PA 17257

July 8, 2017 | Blooming Grove Auction
Blooming Grove Auction Inc.
1091 Free Road
Shiloh, OH 44878

September 9, 2017 | Blair County Auction
Morrison’s Cove Produce
174 Windy Acres Lane
Roaring Spring, PA 16673

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Dr. Matt Demczko recently completed a six month fellowship with the Clinic for Special Children. Dr. Demczko is a 2008 graduate of Franklin and Marshall College where he majored in biology and religious studies with a specific focus in genetics. Through one of his courses, Intro to Genetics, he became very interested in the genetics of rare disease, eventually helping to teach and recruit fellow students to the class. He received his medical degree from Jefferson Medical College in Philadelphia and completed his pediatric training through Nemours/A.I. DuPont Hospital for Children with a third year spent serving as chief resident. It was this experience and training that introduced Dr. Demczko to a collaborative vision between CSC and Nemours to open a pediatric clinic that will focus on treating predominantly Amish children with rare genetic disorders in the Dover, Delaware community. In preparation for opening the new clinic, Dr. Demczko sought a fellowship with CSC in order to integrate himself into a training program that would give him the unique opportunity to care for Amish and Mennonite children living with rare genetic disorders. We are grateful for his contributions to our clinical care and special research projects during his time here and we wish him the best of luck with his future endeavors. Read about Dr. Demczko’s full story and progress updates in our upcoming spring newsletter.

November 2016

This is the time of year we surround ourselves with the love of family and friends and give thanks for our many blessings. At the Clinic for Special Children, we give thanks for you; your trust and support allow us to alleviate suffering and change lives.

We are inspired to share children’s stories, like that of Sara, a compassionate and vibrant teenager who first started to suffer from motor disability as an infant. Sara’s disease progressed rapidly, until she was finally confined to a wheelchair by the age of 6.  Thereafter, she suffered daily from severe dystonia, involuntary and forceful muscle contractions that impose painful contortions on the body and interfere with the smooth, intentional movements we otherwise take for granted.  Through the help of the Clinic, Sara was diagnosed with a rare genetic condition called tyrosine hydroxylase deficiency, more commonly known as Segawa Syndrome, which is caused by mutations of the TH gene. Our doctors used this crucial information to offer Sara a precise, safe, and life changing therapy in the form of L-DOPA, a chemical indispensible to normal motor function of the brain. Slowly her muscles loosened, she regained purposeful movement of her hands, her voice gained power and fluidity and she was able to stand on her own two feet. Now is able to function as a typical teenager, Sara texts, talks and snapchats with her friends. She is gaining strength daily and has set a goal of walking in May!

Segawa Syndrome is one of more than 220 genetic disorders we treat and diagnose at the Clinic, and for most of these conditions, we are able to reduce the burden of disease, prevent disability, or prolong life in ways that transform the lives of children and their loved ones. Our personalized approach to genomic medicine often illuminates understanding about complex diseases found throughout the world, and advances science and patient care one child at a time.

Working together, we can enrich the lives of children like Sara, and your support is vital to this mission! Last year more than 60% of our financial support was raised from charitable sources. Whether you donate your talent, buy a quilt from a benefit auction, send a generous holiday gift, or donate each month, we are grateful for you!

Warmly,

Kevin Strauss, MD                                             Christine Stickler, JD

Medical Director                                                 Development Director

To make a gift online: Click Here

To mail a donation check, please mail to:

535 Bunker Hill Road

Strasburg, PA 17579

For additional information about gifting to the Clinic for Special Children, please contact our development director:

Christine Stickler: 717-687-9407

For the 5th year in a row, CSC joined over 400 nonprofits looking for support during Lancaster County’s Extraordinary Give. Just 24 hours produced over 138 individual gifts and raised over $35,000 for the Clinic this! Best of all, each gift is stretched by matching funds and bonus awards. One day of extra giving from our global community makes an extraordinary difference for the children and families we serve.

Our model continues to drive the medical innovations of tomorrow by focusing on one child at a time.

Our local friends joined us at the Citizen’s Bank Fountain Across from the Lancaster Central Market for a very special Whoopie Pie Toss. We would like to extend a special thank you to Bird-in-Hand Bakery for providing the pies.

Thank you once again for your unwavering support and for the privilege of caring for your special children.

We are grateful to be able to share our patients’ inspiring stories with you like the following narrative by Living in the Light’s Levi Gershkowitz. Conor is an energetic two year old with a larger than life personality, living with Maple Syrup Urine Disease (MSUD). His mother, Julia, walks the reader through their family’s most vulnerable, challenging moments along Conor’s healthcare journey and shares how she found purpose and peace amongst tribulation. “His condition draws us together,” Julia says. “There are multiple times when we have had to lay him on the altar and say ‘Okay God, he’s in your hands.’ And we trust that God really is doing what he needs to. We are blessed with Conor, and he is in God’s hands.” Find his full story below.

We are so excited that our genetic counselor, Karlla Brigatti, was featured in Code Talkers, Genome Magazine’s book written to honor genetics experts who profoundly impact healthcare while communicating with extraordinary compassion and care. A patient reflects, “Her dedication, support, and compassion are unparalleled in an age when medicine has become so corporate. She is always willing to take a phone call, answer an email, or make a connection – literally even from a Brazilian rainforest.” Click the link below for her full excerpt. Congratulations, Karlla!

We would like to extend a big ‘thank you’ to Dr. Katie Williams and Dr. Devyani Chowdhury for their F&M talk on Bringing Advanced Medical Technology to the Plain Community. Dr. Williams and Dr. Chowdhury shared their empowering stories detailing how two projects they have been working on for the last few years that started as small grassroots initiatives (Newborn Pulse-Ox Program and ApoB study) have turned into large scale internationally recognized studies, changing global health protocols in newborn screenings and the way technology is incorporated into rural medicine.

Both doctors took the time to share their empowering stories of their humble journeys into healthcare, Dr. Williams coming from a rural dairy farm in Wisconsin and Dr. Chowdhury from a remote area of India with no schools. Their message rang clear: No matter what your background, your challenges or unexpected changes in your life’s path, one passionate person working on creative projects of any size has the ability to change their community and the world.

Dr. Vincent Carson, our first staff pediatric neurologist, was featured in an inspiring interview by LNP and LancasterOnline.

As the number of patients under the Clinic’s care grows, it is important to ensure that our clinical staff grows in parallel. We are proud to announce that Dr. Vincent Carson joined CSC’s team in July 2016. Dr. Carson committed to becoming a member of CSC’s staff in the summer of 2015 during his last year of residency. We remain dedicated to providing the highest quality of clinical care for our patients. By attracting top medical professionals to CSC, we will continue to fulfill our mission for many years to come.

Dr. Carson is a pediatrician and child neurologist. As a neurologist he specializes in disorders of the brain, spinal cord, nerves, and muscles. Personally, he has a special interest in the genetics of brain disease. He earned a bachelor’s degree in Biochemistry and Molecular Biology from Penn State University in 2004 and a medical degree from Drexel University in 2011. Dr. Carson recently completed his pediatric and child neurology training at the Children’s Hospital of Pittsburgh. He has affiliations with the American Academy of Neurology and the Child Neurology Society.

Dr. Carson, his wife Jen, and their four children were excited to move back to their native Lancaster County, which brings them close to their extended family again. When he isn’t seeing patients or with his family, you may find Dr. Carson playing ice hockey on a local community team!
Dr. Carson is thrilled to offer his expertise and service to children with special needs.

Read Dr. Carson’s welcome feature by LancasterOnline and LNP below!

Dr. Katie Williams was interviewed recently for a feature in Gulf News Magazine out of Dubai, highlighting her expertise on Ellis-van Creveld syndrome (EVC), a rare genetic disorder that causes dwarfism. The Clinic for Special Children currently treats the largest number of EVC children in the world.

Thank you to Dr. Williams for the international impact she’s made in translational medicine for the children and providers who will benefit from her knowledge and advice. Click the link to the right for the full interview.