Miracles Still Happen

The pediatrician called and said that my mom had to take me to Childrens hospital of Philadelphia immediately. He said that one of the newborn tests that were done came positive. It was a test for a metabolic disorder called PKU. He said that I may be very sick and needed to be taken to the hospital immediately.

So my mom and grandma rushed to Childrens Hospital of Philadelphia(CHOP) which is about 100 miles away from where we lived, with the help of a friend. There I was immediately taken by the doctors and several blood draws were done. I did not react to any pricking or poking. I was started on IV fluids and taken inside where my mom could not see me. My mom was scared and confused and could not comprehend enough to understand what was going on.

About three hours later I was moved into the Infant's ICU with IV fluids and lipids. My mom and grandma were told that I had severe acidosis with my ammonia elevated to 800mg. My platelets were dead and my blood had a dangerously low count of white blood cells(wbc). The doctors were not sure if I would survive through the night but they said that they were doing their best. My grandma was praying hard and my mom was dazed. It all seemed not real to her. She was hoping all this was a bad dream and was desperately trying to wake up.

Later that night she gathered up some courage and called my dad to tell him what was going on. She did not make much sense. My dad said that he was going to take the next flight and fly over.

The next morning, the doctors came back to say that they had found out what was wrong with me. I had a rare genetic disorder called Propionic Acidemia (PA) which was closely related to PKU for which I tested positive. Propionic acidemia is a genetic disorder of branched-chain amino acid metabolism. Odd chain fatty acids and cholesterol are also not metabolized correctly by PA patients, but the bulk of the damage to the body comes from consuming a diet too high in protein. Individuals with PA build up propionic acid and other toxins in their bodies if they consume too much protein containing the amino acids methionine, threonine, isoleucine and valine. PA patients are deficient in propionyl-CoA carboxylase (PCC), an enzyme responsible for utilizing these amino acids. I had been nursing and hence all the protein from milk had converted into acid and thereby causing severe acidosis. My propionic acid level at that time was 1200mgs. Below is a complete protocol for Propionic acidemia. Please go through it to learn more about the disorder, symptoms and treatments.

 Complete protocol for Propionic Acidemia

I had to go through several bone marrow transplants and blood transfusions, before my platelet count started increasing. My wbc started showing signs of improvement. The treatment was intense and around the clock and it was hard for my parents to observe all the pricking and poking I had to go through every single day. My mom stayed in the hospital with me along with my grandama, while my dad drove back and forth to work and to the hospital.

Besides the transfusions the treatment involved restoring of hydration with Dextrose 10%, balancing of metabolic decompensation with NaHCO3, lipids and IV carnitine. It also involved atleast two blood draws per day and several urine tests for keytones. I was treated in the IICU for almost 2 months before the doctors could discharge me with confidence. My parents were rigorously educated and trained by medical professionals as well as social workers. They were also told that the acidosis could have caused brain damage and hence developmental delays were to be anticipated. The social workers asked my parents to contact the early intervention program immediately. At the end of 3 months, I was discharged from the hospital. I was to be fed a combined formula of Isomil and Propimex I. The diet was to be administered strictly. Every ounce of the formula should be consumed everyday without exception. My parents were also instructed to check my ketones twice daily and I had to be brought back to the metabolic clinic every two weeks.

My parents were glad to take me home and were hoping this nightmare was all over, still not understanding the consequences of this rare and devastating disorder.

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