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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest treatment for pearson s syndrome in babies

My 17 month old daughter has been diagnosed with Pearson s Syndrome. Perhaps I donot need to explain this to you, but to date O s bowel movements are loose yellow with white seeds in it. We were just hospitalized for 2 weeks and they are saying it was Gastro but one of the interns said that nothing grew. Could you tell me what is happening?? I know the start of liver failure is what I have been told and read... please help, I really don t want to loose her, not yet. A little girl from Ohio just passed away with the same disease, she was 2. After talking to her mom, O is having so many of the same symptoms that E did. Is there anything I can do that I am not doing already. She is taking Carnitine and Menadione. She was on a vitamin cocktail of thiamine, B12, co-enzyme Q10, riboflavin and something else but I forget at the moment. Blood transfusions every 4 weeks as hgb depletes. Platelets as off late as they are always at 20- 30, neutrophils.01, I can go on, but will it help in an answer or not... look forward to your input. We have a sight with facebook, Pearson Syndrome Network. I am very fortunate to know someone else with this disease as it is very rare. CK
Thu, 24 May 2018
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Pediatrician 's  Response
Hello and Welcome to ‘Ask A Doctor’ service. I have reviewed your query and here is my advice.

The goal of treatment is to decrease the seriousness of the symptoms. From what you describe, she is receiving the right treatment- blood transfusions. For your daughter's pancreas, she needs pancreatic enzyme replacement by mouth or insulin injections. She should avoid contact with persons who are sick from infections. I am glad that you have found a support group. You may also go to the website- clinicaltrials.gov(sponsored by NIH in USA) to see if there are any research studies being done or planned for patients with Pearson's syndrome.

Hope I have answered your query. Let me know if I can assist you further.
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