The Mitochondrial Medicine Center at CHOP

Today is Rare Disease Day! Did you know that physicians and researchers have only known about mitochondrial disease for about 30 years? Yet every 30 minutes, a child is born who will develop a mitochondrial disorder or disease by age 10. There are so many different types of mitochondrial diseases that each one is a rare disease. That’s why today and everyday it’s important that we stand together as a community to bring us together and let our voices be heard. We are proud to care and advocate for our mitochondrial disease patients and families! This photo was taken prior to COVID-19 restrictions.

Carly Scarborough is one of our genetic counseling assistants! She assists with genetic testing authorizations, sample tracking, and research!

Happy Mito Monday! Did you know that our team is working on developing quantitative assays to determine the percentage of mitochondrial abnormalities detected? Click the link below for a list of currently available testing and testing under development! Link: https://www.chop.edu//advanced-testing-mitochondrial-disea

Our team will provide you with relevant mitochondrial disease counseling based on your or your child’s diagnosis, including an overview of mitochondrial disease features and genetics. We will discuss the availability, benefits and limitations of different avenues of testing, as well as discuss initiating any supplement or vitamin therapies. We will also make referrals to other specialists as needed to ensure coordinated long-term care.

This Mito Monday we are highlighting our clinical trials! Are you or your child interested in participating? Click the link below to see what studies we are actively recruiting for! https://www.chop.edu/pages/mitochondrial-disease-research

Happy Mito Monday! Did you know that now, for the first time, researchers and clinicians can hold in their hands a one-stop resource to readily learn about each gene implicated in mitochondrial disease? This first-ever readable encyclopedia for doctors and scientists describing all of the genes in which pathogenic variants have been shown to cause mitochondrial disease is now available thanks to our team! Click the link below for more information about this milestone for the mitochondrial medicine community! https://www.chop.edu//first-its-kind-all-one-resource-gene

Did you know we have a new member of our team? Allison Fantauzzi joins us as the new Administrative Director of our program!

This Mito Monday we are covering research! Have you ever wondered what our research team is up to? Click the link below for the current Mitochondrial Medicine Research Studies and Clinical Trials recruiting now! https://www.chop.edu//mitochondrial-diseas/clinical-trials

Are you using MyCHOP? Use our MyCHOP patient portal to access records, see test results, ask your clinical team questions, initiate video visits, and more. Contact your CHOP doctor's office to request an access code. https://www.chop.edu/mychop/contact

Happy Mito Monday! Have you ever wondered why vision can be affected by mitochondrial disease? The retina and optic nerve use a great amount of energy produced by your mitochondria. If your mitochondria are not functioning properly, we can see mitochondrial retinal disease and optic neuropathy. Symptoms may range from mild to severe and vary depending on which cells in the eye have disrupted mitochondrial function. Click the link below for more information such as treatment options! https://www.chop.edu//mitochondrial-dna-common-mutation-sy

This Mito Monday we are highlighting the integrated diagnostic tests developed at CHOP! These tests can provide a definitive diagnosis, leading to better treatments. New discoveries are happening every day to create additional methods to diagnose mitochondrial disease. Click the link below for the available tests we offer! https://www.chop.edu//advanced-testing-mitochondrial-disea

Did you know that all new patients must complete our new patient questionnaire? The new patient questionnaire reviews your medical history. The questionnaire appears in your patient portal on myCHOP starting 2 weeks prior to the visit. The questionnaire must be completed 72 hours before your scheduled appointment time or your appointment may be cancelled. Contact our office with any questions!

Happy Mito Monday! Did you know that we are a multidisciplinary clinic? In addition to seeing the clinical staff, we also offer appointments with our dietician and physical therapist! These specialists focus on mito-specific assessments, which then helps our clinical staff with their overall assessment of you or your child. https://www.chop.edu//mitochondrial-disease-clinical-center

The answer to yesterday’s question is more than 90%! We hope that you learned something new this week about mitochondrial disease and will help us continue to educate and spread awareness about mitochondrial disease!

The answer to yesterday’s question (what percent of each heart muscle cell is made up of mitochondria?) is 40%! Today’s question: What percent of energy in your body’s cells are produced by mitochondria? Comment your answer below and stay tuned for the answer tomorrow!

The answer to yesterday’s question (how long physicians and researchers have known about mitochondrial disease?) is only 32 years! Today’s Question: Do you know what percent of each heart muscle cell is made up of mitochondria? Comment your answer below and stay tuned for the answer tomorrow!

At two years old, Baron was an enigma. He was small but so were his parents. He wasn’t walking, and he received occupational therapy (OT), physical therapy (PT) and speech therapy but his bloodwork showed nothing. It wasn’t until a New York geneticist diagnosed Baron with a mitochondrial disease known as Leigh syndrome that the family finally began to get answers. They were referred to Dr. Marni Falk, Executive Director of Mitochondrial Medicine at CHOP. Now Baron is five years old and active and playful, taking rests when he needs to but still living a much better life. https://www.chop.edu/stories/leigh-syndrome-baron-s-story

We hope you enjoyed yesterday’s event! Can you answer today’s mitochondrial disease question below? Do you know how long physicians and researchers have known about mitochondrial disease? Comment your answer below and stay tuned for the answer tomorrow!