Prior to your appointment
Before scheduling an appointment with one of our physicians, we will need to review your child's medical records. The Medical Records and Reports Checklist below outlines what records you’ll need to submit to the clinic.
Please send relevant paperwork as soon as possible via fax, e-mail or direct mail. Records can be faxed to Sharmaine Hardy's attention at 215-590-0583 with a fax cover page noting: “Requesting appointment with Mitochondrial Medicine,” emailed to email@example.com, or mailed to:
Children's Hospital of Philadelphia
Abramson Research Center
3615 Civic Center Boulevard, Suite 1002
Philadelphia, PA 19104
Your child’s primary care physician or other specialists may also reach out to us to share records or request a consultation.
Medical records and reports checklist
Letters from the past five years of evaluations, including:
- Neurological evaluations
- Clinical genetics evaluations
- Ophthalmologic evaluations, including electroretinogram (ERG)
- Audiological evaluations
- Cardiology evaluations, including echocardiogram and electrocardiogram (EKG)
- Gastrointestinal evaluations, including biopsy reports
- Other specialist evaluations
Copies of images (digital copies on CD preferred) and written reports of previous imaging studies, including:
- Brain MRI and/or MRS (spectroscopy)
- Echocardiograms (written report only)
Reports of biochemical studies on blood or urine performed in the last two years, including:
- Lactic acid level — in blood and/or cerebral spinal fluid level
- Pyruvate level — in blood and/or cerebral spinal fluid level
- Plasma amino acid analysis
- Urine organic acid analysis
- Carnitine analysis (total carnitine, free carnitine and acyl-carnitine profile)
- Comprehensive chemistry panel
- Creatine kinase
- Complete blood count with differential
- Other routine blood and/or urine studies
Reports of prior tissue studies, including:
- Muscle biopsy analyses
- Skin biopsy analyses
- Liver biopsy analyses
- Records from prior hospitalizations and/or surgeries
- Copy of growth chart from pediatrician (height, weight and head circumference)
- Genetic testing results
Scheduling an appointment
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.
We strongly recommend that you contact your insurance company to determine your coverage for diagnostic testing, including genetic studies. Depending on your carrier, pre-authorization is frequently needed to allow blood and urine testing to be performed on the day of your visit at Children’s Hospital of Philadelphia, and many genetic studies may only be possible to be performed at a Children's Hospital of Philadelphia laboratory.
One to two weeks prior to your scheduled appointment, a member of our team may contact you to ask for any additional information needed, such as your family history, to ensure a complete understanding of your child’s condition and background to best prepare for your visit. This detailed preparation will help make your visit as productive as possible.
Day of your visit
Mitochondrial Medicine is located on the 2nd floor of the Wood Center. You may park underneath the Wood Center and proceed to registration on the 2nd floor of the Wood Center.
What to expect at your appointment
Your child’s appointment will involve an extensive evaluation by one of our physicians during which they will confirm relevant medical findings with you, perform a detailed physical examination, and initiate any recommended diagnostic biochemical and genetic laboratory testing.
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 also 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. The following specialists are often involved in the care of patients with mitochondrial disease:
Because we have so much to cover during your visit, please plan to spend a minimum of four hours at CHOP for your appointment.
After your visit
The focus of Mitochondrial Medicine is to identify the underlying cause of suspected mitochondrial disease. We do not provide the day-to-day medical management for your or your child’s medical concerns. It is important that you have a dedicated physician for ongoing medical needs, such as your primary care doctor or neurologist.
If genetic testing was recommended at your initial visit, results are typically available within six to eight months. At this time, a member of our team will contact you to schedule a follow-up appointment to discuss these results in more detail.
Yearly follow-up appointments are typically recommended for those with a strong suspicion of mitochondrial disease with no known genetic cause.