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

DDC Clinic ~ Center for Special Needs Children

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Middlefield, OH
DDC Clinic ~ Center for Special Needs Children

A non-profit primary care physicians office serving patients with rare genetic disorders.

12/03/2025

✨ 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 #26 at DDC Clinic is Deafness and Myopia!

What is it? This condition is caused by a change in the SLITRK6 gene. This gene provides the instructions for a protein responsible for the growth of nerve cells in the inner ear as well as eye development. Changes in the gene can lead to hearing and vision loss.

Inheritance: Deafness and Myopia is an autosomal recessive condition. A patient must inherit two abnormal copies of the SLITRK6 gene to be affected. One copy comes from each parent.

The prevalence of the condition is unknown. At DDC Clinic, we currently care for only a handful of patients with Deafness and Myopia. Treatment focuses on managing the symptoms. Hearing aids or cochlear implants may be used for hearing loss, and glasses or contacts may be used for vision loss.

At DDC Clinic, we are committed to early diagnosis and management of Deafness and Myopia along with many other rare genetic conditions. We are proud to provide specialized, comprehensive care to our patients and families.

12/02/2025

Today’s Giving Tuesday is our opportunity to launch into 2026 with purpose and heart. At DDC Clinic, our mission is to enhance the quality of life for people with rare genetic disorders by providing compassionate care, research, and a true medical home.

Thanks to donors like you, we deliver culturally sensitive care, affordable genetic testing, and ongoing support to families who might otherwise have nowhere to turn. Your gift today can make a real difference as we head into the new year — helping us fund essential diagnostic services, research, and patient care.

➡️ Donate now to fuel our mission and give hope to families facing uncertainty.
www.ddcclinic.org/make-a-donation

11/25/2025

What if one gene mutation impacted both your eyes and your teeth?

Jalili syndrome is a rare autosomal recessive condition that is caused by a mutation in the CNNM4 gene. An individual needs two copies of the mutation to be affected. It is estimated that fewer than 50,000 people in the U.S. have Jalili Syndrome.

Symptoms may start appearing during childhood and include:
👁️ Abnormal retinal pigmentation
👁️ Abnormal color vision and visual impairment
👁️ Involuntary rapid eye movements
🦷 Abnormal tooth enamel
🦷 Abnormal tooth color

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

To learn more, visit ddcclinic.org.

11/21/2025

Wishing you a wonderful and safe Thanksgiving! We are grateful for your support and hope you enjoy some quality time with family and friends.

📣 Please note: DDC Clinic will be closed starting at 1 pm on Wednesday, November 26th - Friday, November 28th. We will reopen Monday, December 1st at 9 am.

We look forward to seeing you when we return. Happy Thanksgiving! 🦃

11/20/2025

The spirit of the holidays is about giving, and the most profound gift you can offer is hope. 💝

When you support DDC Clinic, you’re becoming part of an extraordinary story—one that started with a simple act of community and has grown into a globally recognized center for rare genetic disease discovery. We collaborate with leading institutions to diagnose and treat patients earlier, giving families the answers they desperately need.

Your donation fuels groundbreaking genetic research, provides life-changing answers to families, and makes care more affordable and accessible.

Donate the gift of hope this holiday season. Your contribution truly makes a real difference in the lives of our patients and their families, giving them hope for a brighter, healthier future.

Ready to give? ➡️ ddcclinic.org/make-a-donation

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.

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.

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.

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

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.

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.

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.

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

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

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