On March 1st, 2010, my baby was a week shy of turning 4 months old, when I took him to the ER for being abnormally pale and weak. They ran their routine tests, including a CBC with Diff. This revealed that his hemoglobin was a 1.7. The doctors were amazed that he was alive and said he had lost 85% of his blood. He was then airlifted to Children's Healthcare of Atlanta, and was given his 1st blood transfusion on the helicopter ride. He received his 2nd and 3rd transfusions overnight in the PICU. We stayed in the hospital where they did several more invasive tests including an MRI, a bone marrow biopsy, and a liver ultrasound. It didn't take long before the doctors decided to do genetic testing for Pearson's Syndrome. On March 17, 2010, his father and I received the worst news possible. He had Pearson's Syndrome. This disease is a mitochondrial disease that is multisystemic. Meaning, it affects many different systems and organs in his tiny little body. He received 3 more transfusions before they discharged him on March 21, 2010.
Pearson's Syndrome only has 60 reported cases WORDLWIDE!!! I am amazed at how the doctors came to the idea that he may have this disease, because it is so rare. He has to get blood transfusions about every 3 to 4 weeks, and they keep a very close eye on his liver functions and his weight gain. He is now 8 months old and weighs almost 16 pounds. Pearson's Syndrome is a progressive disease, so it will get worse, as time goes on. The prognosis isn't good either. The doctors told us that most children die in infancy or early childhood due to metabolic crisis or infection, as their WBC counts are also low. The doctors at Children's Healthcare of Atlanta have treated a few children with Pearson's Sydrome and the longest living child was 10 years old when she passed, and she was on life support. If the child can surpass the early years, they develop Kern's Sayre Sydrome, which has it's on list of difficulties.
He is doing great right now, and you can't even tell that he's sick. He is a very happy baby boy who so many people love very much. The community we live in has opened up their hearts and prayers for him and his entire family. We are so greatful for the time we have with him, but the doctors can't even make a guess as to how long that time will be.
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