DDC Clinic ~ Center for Special Needs Children

DDC Clinic ~ Center for Special Needs Children A non-profit primary care physicians office serving patients with rare genetic disorders.

✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨We are highlighting the 30 most frequent genetic conditions we see her...
11/19/2025

✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨

We are highlighting the 30 most frequent genetic conditions we see here at DDC Clinic. Each post is dedicated to raising awareness, exploring unique facts, and detailing our specialized care. Follow along to learn about these rare genetic conditions!

Condition #27 at DDC Clinic is Friedreich Ataxia (FA or FRDA)!

What is FA? It is the most common form of hereditary ataxia in the U.S. FA, discovered in the 1860s by Nicholaus Friedreich, is caused by a change (mutation) in the FXN gene. The condition leads to progressive damage of the nervous system, affecting the spinal cord, peripheral nerves, and the cerebellum. Treatment for FA focuses on managing the symptoms and complications.

Symptom onset usually begins between ages 5 and 15. The condition causes progressive nerve damage, leading to:
🔹 Loss of balance and coordination
🔹 Muscle weakness and fatigue
🔹 Slow/slurred speech and difficulty swallowing
🔹 Scoliosis and foot deformities
🔹 Hearing and vision loss
🔹 Heart problems such as cardiomyopathy

Inheritance: FA is inherited in an autosomal recessive pattern. This means that an individual needs two copies of the mutation in the FXN gene to be affected. One copy is inherited from their mom and one copy is inherited from their dad.

FA affects approximately 5,000 individuals in the United States and approximately 15,000 people worldwide. DDC Clinic currently cares for a handful of these patients.

At DDC Clinic, we are proud to provide specialized, comprehensive care and unwavering support to our FA patients and families.

✨ Shining a light on Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP) ✨IDDRP is a rare autosomal rec...
11/18/2025

✨ Shining a light on Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP) ✨

IDDRP is a rare autosomal recessive condition caused by a mutation in the SCAPER gene. This means that individuals need two copies of the mutation in order to be affected.

Individuals have vision problems and impaired intellectual development. Some patients may also be diagnosed with attention-deficit/hyperactivity disorder (ADHD).

At DDC Clinic, our lab is able to test for IDDRP through targeted variant analysis. The condition is also included on our Genetic Awareness Panel (GAP). 🧬

To learn more, visit ddcclinic.org.

What a phenomenal turnout at Lockkeepers for our Compassionate Care, Global Impact event! We were honored to welcome bus...
11/17/2025

What a phenomenal turnout at Lockkeepers for our Compassionate Care, Global Impact event! We were honored to welcome business and foundation leaders, medical professionals, and many new friends eager to learn about the life-changing work happening at DDC Clinic.

From its humble beginnings in rural Geauga County to its groundbreaking research recognized around the world, DDC Clinic continues to make a powerful impact in the rare genetic disease community. Guests heard inspiring stories of innovation, collaboration, and hope—including partnerships with leading institutions like Cleveland Clinic , UPMC , Harvard Medical School , and University Hospitals .

To our growing community of supporters and advocates: thank you. Your belief in our mission helps us deliver answers to families facing rare genetic diseases—and together, we are truly changing lives.

Today is Genetic Counselor Appreciation Day! 🧬We proudly recognize the compassion and expertise of our phenomenal Geneti...
11/13/2025

Today is Genetic Counselor Appreciation Day! 🧬

We proudly recognize the compassion and expertise of our phenomenal Genetic Counselor, Garrett, and GCs around the world!

Garrett provides essential support and clarity to our patients and families through every stage of the genetics journey. He uses his advanced training to:
🔹Explain complex inheritance patterns
🔹Ensure families receive the right genetic tests
🔹Interpret complicated test results

But Garrett’s dedication extends far beyond the walls of DDC! He also assists providers nationwide who may be unfamiliar with rare genetic diseases (especially those affecting the Amish community) and the unique testing options available.

We appreciate Garrett’s compassion and expertise here at DDC Clinic and for supporting patients and providers everywhere. Thank you, Garrett!

Learn more about Garrett and his work: ddcclinic.org/our-physicians

Thank you Lillian Kuri and the Cleveland Foundation for visiting us at DDC Clinic today. Twenty-five years ago, your su...
11/05/2025

Thank you Lillian Kuri and the Cleveland Foundation for visiting us at DDC Clinic today. Twenty-five years ago, your support helped us get started, and as we have grown into an internationally recognized research facility, you’ve continued to stand by us as we serve individuals and families with rare genetic diseases.

We’re so grateful you took the time to see firsthand our research facility — where compassionate, high-quality care meets globally recognized diagnostic testing and treatment.

✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨We are highlighting the 30 most frequent genetic conditions we see her...
11/05/2025

✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨

We are highlighting the 30 most frequent genetic conditions we see here at DDC Clinic. Each post is dedicated to raising awareness, exploring unique facts, and detailing our specialized care. Follow along to learn about these rare genetic conditions!

Condition #28 at DDC Clinic is Amish Nemaline Myopathy (ANM)!

What is ANM? Also called NEM5A, ANM is a form of Nemaline Myopathy, a severe and rare muscular disorder. It is caused by a change in the TNNT1 gene. ANM results in progressive muscle weakness, particularly in the face, neck, and trunk. Onset is typically soon after birth or in early infancy.

Key Symptoms:
🔹Hypotonia (low muscle tone)
🔹Pectus carinatum (a chest wall deformity)
🔹Severe respiratory insufficiency
🔹Feeding/swallowing difficulties
🔹Contractures (joint deformities)

ANM often leads to early childhood death due to severe respiratory failure. Life expectancy rarely exceeds two years of age. Less than 1,000 people in the US have the condition, and at DDC Clinic, we see a handful of patients affected by it.

Inheritance: ANM is an autosomal recessive condition. A patient must inherit two abnormal copies of the TNNT1 gene (one from each parent) to have the condition. If they inherit only one abnormal copy, they are a carrier for the condition.

Treatment for ANM focuses on controlling the symptoms with supportive care, therapy, and respiratory support. Research is currently focused on AAV gene therapy to restrict the expression of the TNNT1 gene.

DDC Clinic is proud to serve as a committed partner to our ANM families, providing specialized, comprehensive care and unwavering support throughout their journey.

🧬 Understanding Hermansky-Pudlak Syndrome-1 (HPS-1)Caused by a mutation in the HPS1 gene, HPS-1 is a severe autosomal re...
11/04/2025

🧬 Understanding Hermansky-Pudlak Syndrome-1 (HPS-1)

Caused by a mutation in the HPS1 gene, HPS-1 is a severe autosomal recessive condition - meaning an individual needs two copies of the genetic mutation to be affected.

Some symptoms individuals with the condition may experience include:
🔹Light skin, hair, and eye color as well as vision impairment
🔹Easy bruising and excessive bleeding
🔹Progressive, fatal scarring of the lungs

A distinct HPS1 founder mutation has been identified in the Amish community. At DDC Clinic, our lab offers targeted testing for this Amish founder variant. This variant is also included on our Genetic Awareness Panel (GAP).

To learn more visit ddcclinic.org.

This month we are celebrating 5 years of incredible work from our Laboratory Technologist, Oliver! Happy 5th Anniversary...
11/03/2025

This month we are celebrating 5 years of incredible work from our Laboratory Technologist, Oliver! Happy 5th Anniversary! 🎊

Oliver started as an intern before officially joining the team in November of 2020. Today, he’s a vital Technologist, expertly handling DNA extractions and performing complex genetic tests like our targeted variant tests and GAP testing.

Thank you, Oliver, for five years of hard work and dedication to patient care!

Interested in learning more about Oliver and the rest of our staff? Visit: ddcclinic.org/staff-and-board-of-directors.

At DDC Clinic, our team is committed to being ready for any situation. That’s why our staff participates in American Hea...
10/31/2025

At DDC Clinic, our team is committed to being ready for any situation. That’s why our staff participates in American Heart Association–approved CPR and Automated External Defibrillator (AED) training.

This training ensures every team member knows how to respond quickly if someone experiences cardiac arrest or a heart-related emergency — from locating equipment to performing resuscitation confidently.

It’s especially important in our Family Heart Center, where we care for patients at higher risk for sudden cardiac events. Being prepared means providing the best possible care when seconds matter.

Looking ahead, we plan to bring this life-saving training to the broader community, including offering CPR classes to the Amish community in our area, helping families be ready to act in emergencies.

If you are interested in learning more or donating to our mission, visit ddcclinic.org/make-a-donation

This month we had the privilege of celebrating two staff member birthdays! Please join us in wishing Erma and Virginia b...
10/30/2025

This month we had the privilege of celebrating two staff member birthdays! Please join us in wishing Erma and Virginia both a happy birthday! 🎂

Thank you both for all the work you do for our clinic, patients, and families. We love celebrating our staff! Get to know our entire staff at ddcclinic.org/staff-and-board-of-directors.

Thank you NEO Amish Country for recognizing DDC Clinic! To learn more about our clinic visit ddcclinic.org.
10/29/2025

Thank you NEO Amish Country for recognizing DDC Clinic!

To learn more about our clinic visit ddcclinic.org.

✨ Shining a light on HERC2-Related Disorder ✨Also known as blue eye delay or Intellectual Developmental Disorder-38, HER...
10/28/2025

✨ Shining a light on HERC2-Related Disorder ✨

Also known as blue eye delay or Intellectual Developmental Disorder-38, HERC2-related disorder is an autosomal recessive condition–meaning an individual needs two copies of the mutation in the HERC2 gene to be affected.

The condition shares many clinical features with Angelman Syndrome, including developmental delays, intellectual disability, movement disorders, and, in some cases, features of autism spectrum disorder.

The global prevalence is unknown, but a specific founder mutation has been identified in several Old Order Amish and Mennonite families.

At DDC Clinic, our lab is able to test for HERC2-related disorder through targeted variant analysis. The condition is also included on our Genetic Awareness Panel (GAP).

To learn more, visit ddcclinic.org.

Address

14567 Madison Road
Middlefield, OH
44062

Opening Hours

Monday 9am - 5pm
Tuesday 9am - 5pm
Wednesday 9am - 5pm
Thursday 9am - 5pm
Friday 9am - 5pm

Telephone

+14406321668

Website

https://www.ddcclinic.org/make-a-donation/

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