The Mitochondrial Medicine Center at CHOP

Mito Med 2024 is right around the corner! Will we see you in Cleveland, OH in a few weeks?

ATTENTION: Attendees! Please download the Conference app and be ready -- Doc Is In session sign ups will launch in the Mito Med Conference app on Monday, June 10 at 12pm eastern. Watch your email for more details!

Davis’ initial mitochondrial disease outlook was grim, but a refined diagnosis at CHOP led to treatment that put him on a path with a bright future.

Leigh Syndrome/EARS2: Davis’ Story | Children's Hospital of Philadelphia

This Mito Monday we are highlighting our research! If mitochondrial disease is suspected to be the underlying cause of your or your child’s medical concerns, you will have the opportunity to participate in various ongoing research studies we currently have to offer. Our researchers are actively working on identifying better ways to diagnose and treat mitochondrial disease, identifying new genetic causes of mitochondrial disease and characterizing exactly how mitochondrial disease affects the body. Click the link below for more information.

Mitochondrial Disease Research | Children's Hospital of Philadelphia Learn about mitochondrial disease research at Children's Hospital of Philadelphia's Mitochondrial Medicine.

Join Hanger Clinic on 6/22/24 from 9am-3pm at this FREE, family-friendly event to play some accessible board games, participate in educational workshops that discuss fitness, wellness, nutrition, and skin care, and join others during adaptive activities. Click the link below to learn more and RSVP.

Adaptive Recreational Activity Day | Hanger Clinic You’re invited to join Hanger Clinic for our 3rd Annual Adaptive Recreational Activity Day! We look forward to bringing our community together to stay

Please allow for extra travel time to your appointments due to traffic congestion caused by multiple construction projects around CHOP and Penn, including the full closure of the Wood Garage. Read more about parking at CHOP’s Philadelphia Campus by clicking the link below.

Parking at CHOP’s Philadelphia Campus | Children's Hospital of Philadelphia There are several parking garages located on CHOP’s Philadelphia Campus. Find parking for the Main Hospital, Buerger and Seashore buildings.

Happy Mito Monday! Did you know that mito disease can cause neurological symptoms such as developmental delays, seizures, and stroke like episodes? Click the link below to learn more about neurology and mitochondrial disease during this video led by Xilma Ortiz-Gonzalez, MD, PhD.

Neurology and Mitochondrial Disease | Children's Hospital of Philadelphia View this webinar to learn more about neurology and mitochondrial disease led by Xilma Ortiz-Gonzalez, MD, PhD.

Happy Mito Monday! Did you know that we are able to offer a rapid non-sedated brain MRI/MRS protocol here in our radiology department? Some mito patients may have hypersensitivity to volatile anesthetics so this protocol we offer is a great option to avoid the need for sedation! Speak to your provider at your next appointment to see if this is an appropriate option for you!

Advanced Testing for Mitochondrial Disease | Children's Hospital of Philadelphia Integrated diagnostic tests developed at CHOP can provide definitive diagnosis, leading to better treatments for mitochondrial disease.

Once all medical records have been received and reviewed, you or your child will be placed on a wait list for an appointment. We will contact you to schedule an appointment when one becomes available. Urgent add-on appointments are possible if all records are available, an appropriate medical indication is present, a physician referral is made to support this appointment, and insurance authorization is obtained.

Your Initial Appointment with Mitochondrial Medicine | Children's Hospital of Philadelphia Learn about what to expect at your first appointment with Mitochondrial Medicine at Children’s Hospital of Philadelphia.

Today kicks off Nurses Week! This week we celebrate and thank all the nurses out there, especially our mito nurses! We are thankful for our 3 nurses and our nurse practitioner we have on staff. Pictured below are Cass Pantano (NP), Erica Cape (RN), Jennifer Gornish (RN), and Alex Schumann (RN). Thank you for your contributions to our team!

Did you know that our team developed a clinical pathway to help guide outside hospitals on how to care for mito patients? Click and share the link below to spread news about this interactive tool!

Emergency Department and Inpatient Mitochondrial Clinical Pathway | Children's Hospital of Philadelphia This pathway guides the ED and inpatient care for patients of any age with Genetically confirmed, Primary (Definite) Mitochondrial Disease or Suspected Mitochondrial Disease.

Our very own Dr. Amy Goldstein had the opportunity to speak with Penn Neurology residents about mitochondrial diseases! We love to educate and spread awareness about these diseases! 💚

Facing a tough diagnosis together, CHOP doctors offer Dakota hope and support, while she helps them learn more about her rare mitochondrial disease.

Mitochondrial Disease: Dakota’s Story | Children's Hospital of Philadelphia

This Mito Monday we are highlighting our clinical trials! Interested in participating? Click the link below to see what studies we are currently recruiting for.

Mitochondrial Medicine Program Clinical Studies | Children's Hospital of Philadelphia PRISM and CFN for PMD Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact the...

Did you know that CHOP has an interactive symptom checker? Use this tool to help determine how serious your symptoms are, if a healthcare visit is needed, and what steps you can take to relieve your symptoms at home. When in doubt, always contact your primary care provider. Click the link below to get started.

Symptom Checker | Children's Hospital of Philadelphia CHOP's online symptom checker can help you make informed decisions about what level of medical care your child may need, if any, and steps you can take to relieve symptoms at home. If your child has medical risk factors such as a weakened immune system or surgery in last 7 days, please contact their...

Happy Mito Monday! Did you know that rapid IV arginine was found to be beneficial when given to patients with a new neurologic problem that was concerning for an acute metabolic stroke? Many also experienced no side effects from the treatment! Click the link below for more information discovered from this study!

Intravenous Arginine Benefits Children after Acute Metabolic Strokes | Children's Hospital of Philadelphia Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid IV treatment with the amino acid arginine, with no side effects.

Happy Mito Monday! Did you know mitochondrial disorders are named and classified by their genetic causes or by their symptoms and the results of non-genetic clinical tests? Because mitochondrial disorders are grouped in two ways — by genetic cause and by symptoms — particular disorders can fall into more than one category. Click the link below for more information!

Mitochondrial Myopathy | Children's Hospital of Philadelphia Mitochondrial myopathies are forms of mitochondrial disease that cause prominent muscle problems. Learn about the forms of mitochondrial myopathy, causes, symptoms and diagnosis.

Happy Mito Monday! Today we are discussing Mitochondrial Depletion Syndrome (MDS)! MDS refers to a group of rare genetic disorders that limit the number of mitochondria inside of cells. The onset of MDS typically occurs early in life, during infancy or in the first two years. MDS can affect one or more organs in the body, including the muscular and gastrointestinal systems, the brain, and liver. Milder manifestations of the disorder can develop in teenagers and adults. Click the link below for more information on MDS including symptoms, diagnostic criteria, and treatment options!

Mitochondrial Depletion Syndrome | Children's Hospital of Philadelphia Mitochondrial Depletion Syndrome (MDS) refers to a group of rare genetic disorders that limit the number of mitochondria inside of cells.

Have you ever wondered why we ask you to come back to clinic to receive your genetic test results? Confirming causality of a given gene variant is essential, since all people have extensive genetic variation that is confusing to families if they are left without help to interpret complex testing reports. Thus, it is vital the complex genetic testing process is properly explained to families both before and after testing, and used to optimize medical care and empower family members with effective patient management approaches and reproductive options.

Genetic Counselor’s Corner: The Value of an Accurate Genetic Diagnosis | Children's Hospital of Philadelphia The case of a 5-year-old patient is used to explain the importance of obtaining an accurate genetic diagnosis for mitochondrial diseases, properly explaining the testing process to families, and providing counseling.

This Mito Monday we are discussing research! Our researchers have discovered functions or possible impairments of mitochondria in the brain related to normal brain functioning, recovery from injury and neuropsychiatric disease! Click the link below for more updates on what our research team is up to!

Mitochondrial Disease Research | Children's Hospital of Philadelphia Learn about mitochondrial disease research at Children's Hospital of Philadelphia's Mitochondrial Medicine.

Happy National Doctors’ Day! Today we celebrate and thank all of the doctors out there, especially our mito doctors! We are thankful for our 6 attending physicians we have on staff. Pictured below are Dr Demczko, Dr Falk, Dr Ganetzky, Dr Goldstein, Dr Sharma, and Dr Zolkipli. Thank you for your contributions to the mito community!

Before scheduling an appointment with one of our physicians, we will need to review your child's or the adult patient's medical records. Click the link below for The Medical Records and Reports Checklist that outlines what records you’ll need to submit to the clinic!

Your Initial Appointment with Mitochondrial Medicine | Children's Hospital of Philadelphia Learn about what to expect at your first appointment with Mitochondrial Medicine at Children’s Hospital of Philadelphia.

This Mito Monday we are highlighting mitochondrial myopathies! Mitochondrial myopathies are forms of mitochondrial disease that cause prominent muscle problems. Can you name the nine main forms of mitochondrial myopathy? Click the link below for the answer!

Mitochondrial Myopathy | Children's Hospital of Philadelphia Mitochondrial myopathies are forms of mitochondrial disease that cause prominent muscle problems. Learn about the forms of mitochondrial myopathy, causes, symptoms and diagnosis.

Please allow for extra travel time to your appointments due to traffic congestion caused by multiple construction projects around CHOP and Penn, including the partial closure of the Wood Garage. Read more about parking at CHOP’s Philadelphia Campus by clicking the link below.

Your Initial Appointment with Mitochondrial Medicine | Children's Hospital of Philadelphia Learn about what to expect at your first appointment with Mitochondrial Medicine at Children’s Hospital of Philadelphia.

Did you know the UMDF offers a Mito Teen and Young Adult Virtual Meet-Up Ages 16-35 every Friday evening? It's never too late to join! Click the link below to register.

Shout out on this amazing milestone -- Tonight marks the 200th call of the Mito Teen & Young Adult Virtual Meet Up! It's never too late to join in: https://bit.ly/Register_TeenYoungAdult

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! Comment below about someone you love that has a rare disease!

Nearly three decades after Chuck and Adrienne Mohan lost their beloved daughter, researchers at Children’s Hospital of Philadelphia (CHOP) were finally able to tell the Pittsburgh couple what had caused her to become so sick and die far too soon. Click the link below to read about Gina’s and Her Family’s Story.

MELAS Syndrome: Gina’s and Her Family’s Story | Children's Hospital of Philadelphia CHOP provides the answer to 26-year mitochondrial disease mystery to parents grateful for closure in their daughter’s death.

Our very own Dr. Amy Goldstein will be joining the UMDF Ask the Mito Doc webinar this Wednesday! Click the link below to register!

Don't forget! Our monthly Ask the Mito Doc webinar is this Wednesday, Feb 28 at 7pm ET. Join us for a discussion on "ICU/Anesthesia and Mitochondrial Disease." Register here for ZOOM credentials: https://bit.ly/AMDFeb2024