According to a story from the Bensalem Times, David and Catherine Woodley’s adopted daughter Abby recently underwent a transplant operation that saved her life. David and Catherine adopted Abby three years ago; she was the newborn daughter of a Chinese couple who were unable to stay in the US due to visa complications. The situation was a unique challenge because Abby had a rare disease called methylmalonic acidemia.
About Methylmalonic Acidemia
Methymalonic acidemia, which is occasionally referred to as methylmalonic aciduria, is a rare metabolic disorder. It is characterized by an inability to digest certain fats and proteins normally, which causes methylmalonic acid to accumulate in the blood to the point of toxicity. There are a number of genetic abnormalities and mutations which can cause this disorder; any mutations that cause a vitamin B12 deficiency can cause it. A major deficiency of vitamin B12 will also cause symptoms to appear, regardless of mutations. Symptoms of methylmalonic acidemia include breathing problems, pancreatitis, developmental delays, stroke, hypotonia, progressive encephalopathy, enlarged liver, yeast infections, seizures, acidosis, and kidney failure. In most cases, a diet low in protein that limits the intake of triggering substances is helpful, but a kidney or liver transplant may be attempted in extreme cases where dieting alone does not resolve symptoms. To learn more about methylmalonic acidemia, click here.
Out of Options
Abby was an example of a very severe case of methylmalonic acidemia. For her first three years of life, she spent a lot of time in the hospital. She was there about once every six weeks, with each stay lasting up to a week. Needless to say, it was not easy for the little girl or her parents. Last April, David and Catherine were first introduced to the idea of a liver transplant to treat Abby’s disease. The girl was doing poorly and her parents were concerned that her life was in jeopardy. A liver transplant is useful in methylmalonic acidemia because a new liver would be able to produce the enzymes necessary for Abby to digest food normally.
Getting Better
The procedure was completed in late August and the three year old seems to be taking it all in stride. She has not experienced major complications and her cognition and appetite have been strong. Still, things could take a turn for the worse at any moment and the Children’s Organ Transplant Association is hoping to raise $40,000 for the family. If you would like to contribute, click here.
