Hello Valeska and Martin,

I hope you are doing well today.

Our medical consultant has reviewed all of the medical records submitted for review.

We would be happy to see Markus in the Mitochondrial program at CHOP for further evaluation. The plan would be to repeat biochemical testing (lactate, pyruvate, amino acids, organic acids), skin biopsy for pyruvate carboxylase testing, whole exome sequencing and discuss risks/benefits of muscle biopsy for ETC enzymology, histology and mito DNA qPCR. He is recommended for additional consultations with Neurology, Audiology, Cardiology and Ophthalmology.

The Mitochondrial Medicine Center at CHOP strives for the integration of multi-disciplinary clinical care and translational research for patients of all ages living with mitochondrial disease.

We focus on finding the underlying cause of your or your child’s condition, knowledge that will help us determine the best course of treatment for each patient while working in collaboration with your primary care physician, neurologist, and other specialists. For additional information about the center, please refer to the website: http://www.chop.edu/centers-programs/mitochondrial-disease-clinical-center

Our financial team is working with your insurance company to verify benefits.

Please let me know if you would like to come to CHOP for proposed evaluation, and when you may be interested in traveling to USA.

Please do not hesitate to contact me with questions.

Sincerely,

Cathy

Cathy Timko MSN, CRNP
Clinical Nurse Manager

International Patient Services
3401 Civic Center Blvd
Philadelphia, PA 19104