Emergency Appeal to help 8 year old Parsis Shadkamian, suffering from Pearson Syndrome

The following is a personal plea for help for 8 year old Parsis Shadkamian.

“Parsis Shadkamian is an 8 year old girl who suffers from an extremely rare genetic disorder called “Pearson Syndrome“. The first signs of illness became apparent when she was 10 months old, at that time she was suffering from severe anemia, it was so bad that her blood hemoglobin levels dropped to 3. She was immediately put under blood transfusion therapy and this continued every 4 weeks until she was about 3 and half years old. At this time the diagnosis was “Diamond Blackfan Anemia.”

“Six months later, when she was 4, she started to have elevated blood sugar and was later diagnosed with “Secondary Diabetes” with iron overload (caused by blood transfusions) as the underlying cause. They started chelation therapy immediately to reduce the iron accumulation in the pancreas in the hope of ending the diabetes and the need for insulin; remember that at this time the diagnosis is still “Diamond Blackfan Anemia.” Chelation therapy included taking medicine and having phlebotomies every couple months.

“Parsis stopped growing from age 3 so growth failure was another issue we were having. After contacting her doctors and many tests later she was put on growth hormones briefly but later on December 3, 2013 she was hospitalized over a severe case of metabolic acidosis and we stopped growth hormones then. When admitted to the hospital she was about 20 pounds only, even though she was 6 years old. She was so thin and emaciated looking that we couldn’t bare to look at her naked body. She had no interest in eating and never again was able to eat by mouth, therefore doctors decided it’s best if she has an NG tube for feeding and 2 months later on February 2014 she was finally diagnosed with “Pearson Syndrome.””

You can read more information about this disease by going to this link: http://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome

“Keep in mind that this disease is very progressive and as the patient gets older the symptoms become more and worse. Parsis now has Pancreatic Insufficiency (diabetes), Chronic Kidney failure stage 4, growth failure, central sleep apnea and she has almost lost the ability to walk and her eyes are closed shut and spends most of her life on the sofa laying down.”

Please give what you can to help this little girl and her family.

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