Newly diagnosed with Pearson Syndrome
|Newly Diagnosed with Pearson syndrome
|Diagnostic récent de syndrome de Pearson
|Pazienti con recente diagnosi di sindrome di Pearson
|피어슨 증후군을 진단받은 분들께
The following are recommendations for families of those newly diagnosed with Pearson Syndrome. They are based on recommendations from The Champ Foundation’s first Pearson Syndrome Conference, held on February 5, 2018 and were updated following the Pearson Syndrome conference held May 30, 2020. Clinicians in attendance included Dr. Suneet Agarwal (Boston Children’s Hospital), Dr. Peter Aziz (Cleveland Clinic), Dr. Rebecca Ganetzky (CHOP), Dr. Amy Goldstein (CHOP), Dr. Elad Jacoby (Sheba Medical Center), and Dr. Sumit Parikh (Cleveland Clinic). These recommendations were reviewed and updated in February 2023 by members of The Champ Foundation’s Science Advisory Board.
These guidelines do not substitute for medical advice and all interventions should be approved and decided by your child’s doctors.
Understanding Pearson Syndrome
Pearson Syndrome is a very rare primary mitochondrial disorder due to a mitochondrial DNA deletion. While each case is different, individuals are often at risk of anemia, impaired vision, hearing loss, cardiac rhythm disturbances, endocrine dysfunction, pancreatic insufficiency, challenges with feeding and growth and kidney problems.
Consider registering in the Champ Foundation Registry (CFR)
The CFR is a research study to investigate single large-scale mitochondrial DNA deletion (SLSMD) disorders, such as Pearson syndrome, Kearns-Sayre Syndrome, and CPEO. Any individual or caregiver of an individual with a SLSMD disorder may register. The CFR aims to: (1) Identify individuals with single large-scale mitochondrial deletion disorders, such as Pearson syndrome, Kearns-Sayre Syndrome, and CPEO; (2) Gather past and future information on individuals with SLSMD through voluntary registration, self-reported survey questionnaires, patient-mediated medical record collection, and optional biospecimen sharing; (3) Make data collected through the CFR available to researchers and clinicians who are studying SLSMD disorders to answer questions regarding the disease, including its causes, potential treatments, and other topics; (4) Be the primary hub of clinical trial recruitment for individuals with SLSMD disorders. The co-principal investigators of the CFR are Elizabeth Reynolds and Dr. Sumit Parikh (Cleveland Clinic Scientific Advisor to The Champ Foundation).
- Consider participating in the Pearson Syndrome Natural History Study The purpose of this study is to better understand the natural history of the disease. This will help support future research studies, and could help find treatments and cures for Pearson syndrome and other single large-scale mitochondrial DNA deletion disorders. To participate in the Natural History Study, participants must first register on the CFR and complete an eligibility screening process. Contact [email protected] if you are interested in participating or in more information.
Set up a team of doctors
Pearson Syndrome can affect multiple organ systems in the body. Your child’s medical team may include a hematologist, endocrinologist, cardiologist, ophthalmologist, neurologist, gastroenterologist, geneticist, and nephrologist. It may be of value to find a specialist for each, even if your child does not currently present symptoms. This enables you to be comfortable with the doctor, establish baseline values, and monitor changes.
Review mitochondrial disease guidelines
You or your doctors may be interested in general care guidelines for patients with mitochondrial diseases. The Mitochondrial Care Network developed a guide for those newly diagnosed with mitochondrial disease, and can be found here. The Mitochondrial Medicine Society developed patient care standards for primary mitochondrial diseases, and can be found here.
Gather emergency letters from appropriate doctors
People with Pearson Syndrome may be more sensitive to physiological stressors. This means minor illnesses, dehydration, fever, temperature extremes, surgery, anesthesia, and fasting can be particularly dangerous. Avoiding these situations is very important, but when your child is having a sick day, it is of critical importance that emergency room doctors have the most up-to-date recommendations for patient care. These recommendations should include guidelines for: (1) labs to be drawn and monitored, (2) fluids to be provided in case of dehydration, (3) response to lactic acidosis, (4) specific drugs to be avoided, (5) precautions during anesthesia and surgery, and (6) provision of supplements and antioxidants. An example emergency letter is attached.
Medications and the "mito cocktail"
There is currently no approved treatment or cure for Pearson Syndrome. Many doctors, however, suggest a therapeutic trial of coenzyme Q10, along with a combination of additional nutrients such as creatine, arginine, L-Carnitine, thiamine, vitamins C and E, alpha-lipoic acid, and folinic acid. Be sure to work directly with your doctor to determine what medications and vitamins, and what dosages, are best for your child.
Connect with other families
Connecting with other families living with a Pearson Syndrome diagnosis can provide emotional support and a wealth of useful information. If interested, request to join the Facebook group “Pearson Syndrome Family.”
Join our efforts to find a cure
Research is necessary to better understand how to treat Pearson Syndrome, and is the only hope for children suffering from this debilitating disease. If you are interested in working with The Champ Foundation to help find new therapeutic approaches for treating this condition, please contact us at [email protected].