Hudson Reynolds learned about rare disease when his sister Tia was diagnosed with phenylketonuria (PKU). PKU is an inborn error of metabolism which causes phenylalanine, an amino acid, to build up in the body. We normally consume amino acids when eating protein and some artificial sweeteners. Because of this, people with PKU have to significantly restrict their protein intake. At some points, when Tia was young, she was only allowed ¼ of an egg (or similar protein levels) each day.
Now, at 17 years old, Reynolds has decided to make a change. His goal is to not just raise greater awareness of phenylketonuria, but to raise funds that can advance research within this realm. According to WESH, Reynolds is taking his mission to monumental heights—literally. He will be taking eight days to hike almost 20K feet up Mount Kilimanjaro. So far, his initiatives have already raise more than $193K; we look forward to seeing what else he can achieve.
About Phenylketonuria (PKU)
Over 300 gene mutations in the PKU gene have been associated with phenylketonuria development. As described above, this rare genetic disease causes phenylalanine hydroxylase (PAH) deficiency. This enzyme usually helps clear phenylalanine from the body. When phenylalanine accumulates, it causes serious health issues. This condition is often diagnosed at birth through newborn screening. Treatment often begins in the first few days or weeks of life to avoid long-term damage. The main treatment is dietary modifications. Symptoms associated with PKU, which often appear in the first few months after birth, can include:
- Intellectual and developmental delays
- Unusually light skin, hair, or eye colors
- Microcephaly (an abnormally small head size)
- Tremors
- Hyperactivity
- Depression
- A red skin rash with small papules
- Poor feeding
- Abnormal muscle movements
- Vomiting
- Decreased bone strength
- Musty odor to breath, skin, and/or urine
- Cardiac defects
- High risk of miscarriage (in pregnant females)
- Seizures
