Jenna and Lauren

This is a personal story shared by a family whose children were diagnosed with called Propionic Acidemia (PA) at the age of six months and prior-to-birth.

I have two daughters, Jenna and Lauren who have a metabolic disorder called Propionic Acidemia (PA), a member of the Organic Acidemia family of disorders.

Jenna was diagnosed at the age of 6 months. We had to take her to B.C. Children's Hospital with concerns about her breathing, lethargy, lack of appetite and severe constipation. Jenna was in a coma during the first 3 days of her hospitalization. Luckily, the biochemical Diseases team was knowledgeable in metabolic disorders and had immediately begun treating her with low-protein diet prior to her diagnosis. This surely saved Jenna's life, although she has suffered neurological damage which has left her with severe developmental delays.

When my husband and I decided to have another baby, we met with a Geneticist who gave us the option of an amniocentesis to test whether our baby would also have the condition. Lauren was diagnosed with PA. When she was born, she was immediately treated with the special diet. Today, Lauren's development has been closer to normal.

Propionic Acidemia is currently not a disease tested under the newborn screening program of B.C., nor are any of the other Organic Acidemias. As a parent to children with this metabolic disorder, I can only imagine how newborn screening could have saved my older child from severe neurological delays. My second child was lucky to be diagnosed prior to birth, which made a significant difference in her quality of life.

Jenna is in grade two and receives the full service for special needs students, such as her own SEA (Special Education Assistant), Physiotherapist, Occupational Therapist and Speech and Language Pathologist. She is currently on the BC's At-Home Program, receiving coverage for medical and respite needs. She is also approved for a Canada Customs & Revenue Agency disability tax credit. The reason I listed all of her special needs is to highlight how much money the provincial government of B.C. and the federal government of Canada is spending on my special needs child. This funding could have been reduced substantially if there had been a newborn screening program that was available to detect her disorder before she went into crisis and prevented the neurological damage.

I urge all parents to have their newborn screened for these kinds of disorders. Not only will this benefit the family by having their baby treated prior to a crisis and the child to have a better quality of life. Early detection can also substantially reduce government spending on special needs children.

Sincerely,

Aubrey Delima

Jenna - Propionic Acidemia

Lauren -Propionic Acidemia

Vancouver, BC