When Ivy Reed was just two weeks old, she was first diagnosed with two conditions: non-verbal autism and propionic acidemia, the latter of which is a rare metabolic disorder. Because of this, her parents Pippa and Carl pay close attention to their daughter’s health. The pair explain that, over the last four years, Ivy has been hospitalized a lot. Her propionic acidemia prevents her body from adequately fighting off colds or infections; additionally, it can cause a number of other health issues.
For example, shares The Bolton News, Ivy had her first seizure when she was eleven months old. During this time, her heart stopped, but Ivy was later revived. Her family now keeps a number of tools at home – such as an oxygen monitor and a defibrillator – to monitor Ivy’s health. Through fundraising, the family also hopes to purchase more equipment such as monitors to alert the doctors when Ivy has a seizure, sensory items, or anything that they might need during their time in the hospital.
For the time being, Pippa, now a full-time caregiver, keeps a close eye on Ivy. Pippa manages Ivy’s feedings, which are given through a feeding tube. She also makes sure to keep an eye out for any potential health problems – something which, in May 2022, may have saved Ivy’s life. After Pippa had put Ivy to bed, she realized that her daughter was having a seizure. Ivy’s heart once again stopped. But Pippa rushed Ivy to the hospital, where her daughter was able to be saved.
Right now, there is no cure for propionic acidemia. But Carl and Pippa feel hopeful for the future, where their daughter may be able to take part in gene therapy studies or receive a liver transplant to improve her health.
What is Propionic Acidemia?
Propionic acidemia exists under the larger umbrella of organic acidemia, a group of rare metabolic disorders. PCCA and PCCB gene mutations cause propionic acidemia. Altogether, these gene mutations cause propionyl CoA carboxylase deficiency. Normally, this enzyme helps to process and break down amino acids. However, those with propionic acidemia are unable to breakdown amino acids, leading to toxic levels of accumulation. Typically, symptoms and characteristics manifest within days following birth. Without treatment, propionic acidemia can cause coma or even death. Symptoms can include:
- Poor feeding
- Appetite loss
- Hypotonia (diminished muscle tone)
- Hyperammonemia (high levels of ammonia in the blood)
- Intellectual disability
Learn more about propionic acidemia.