7 Pictures Showing How Life Can Be Affected by Propionic Acidemia

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

Both Maya (age 7) and Christian (age 3) have a rare metabolic condition called propionic acidemia. This rare disease means their bodies cannot process protein properly. In honor of Rare Disease Day, here are seven pictures showing how life can be affected by a rare disease.

1. Small illnesses such as a common cold, a virus, or stomach bug end up being a big deal for children with propionic acidemia. We work hard to avoid germs.

2. Our kitchen doubles as a “science lab.” We have cabinets dedicated for formulas, medications, food scales, nutrition books, and medical supplies. Each formula is used for a different purpose. One is used daily in a strict recipe. Others are used for increased calories and for when the kids are on a “sick diet.”

3. Medical equipment turns into commonplace toys. Syringes become water shooters in the bathtub and medical gloves are used as balloon animals.

 

4. We need a “prize box” for successful trips to the doctor. Propionic acidemia requires Maya and Christian to see a genetic team including the geneticist, dietician, and genetic counselor besides their regular pediatrician. Blood draws are the toughest part on the kids.

5. Their toys are always “sick.” The dolls get cotton balls in their diapers for urine samples, stuffed animals receive ECHOs, and even the superhero toys are not exempt from blood work.

6. Paperwork, paperwork, paperwork. Multiple cabinets are dedicated to medical papers, test results, Early Intervention reports, 504 plans, and insurance paperwork. Food journals are used to keep track of daily nutrition and emergency numbers are found in multiple places throughout the house.

7. Celebrations are seen everywhere. Because having two children with a rare disease can take a toll on everyone in the household, we make sure to celebrate the positives on a daily basis. Every day is a day to celebrate and live life to its fullest.

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