Living with Propionic Acidemia:
Coping with PA
Families who live with a PA patient cope every day with stresses unimagined by those who have never cared for a medically-fragile special needs child. The diagnosis of PA significantly impacts not only the child but the entire family. Emotions such as worry, anger disbelief and depression are common for parents of a PA child. Will my child be OK? Will he reach any of the normal childhood developmental milestones such as walking and talking? How will my child's brain be affected by this disease? How do I explain this to my older children without causing them to fear? What if I misinterpret her symptoms and she has another metabolic crisis? These questions and stages of grief are important and necessary for parents and caregivers to move through, but compound the daily stresses of adjusting to new family dynamics in caring for a medically fragile child. Siblings of PA children need extra attention to reassure them the family is OK. They need to feel secure, and that can be difficult for parents to convey when they have their own fears, questions and such little personal time.
Daily Management of a PA Child
After diagnosis, every meal or feeding of a PA patient must be tediously calculated to include the exact amount of protein, water and calories required for growth and development. Feedings must be given evenly throughout the day to ensure optimal utilization of nutrients by the body. Feeding problems often necessitate the use of nasogastric tube or gastronomy tube feedings for children who simply refuse to eat.
Many PA children present at birth with reflux, lethargy, hypotonia and vomiting, making it difficult or impossible to get the correct amount of fluid and calories into the child. Others manifest these symptoms later in the infant period during a metabolic crisis. PA children presenting with severe episodes of vomiting and fluid loss require immediate IV therapy to prevent further acidosis coma and death. Elevated ammonia, propionic acid, and other toxic metabolites can cause serious brain damage if not brought under control quickly. Less often, surgery such as Nissen fundoplication may be required to combat constant reflux and loss of nutrients if administration of antacids such as Zantac or Prilosec are not helpful. In the past infants presenting with these symptoms died without having a correct diagnosis or treatment available. Today, however, many PA children born in developed countries are diagnosed early and started on a lifetime of dietary intervention.
Each day in the life of a PA patient is an attempt to manage protein metabolism without the benefit of enough PCC (propionyl-CoA carboxylase) present in the body to assist in the breakdown of the amino acids methionine, threonine, isoleucine and valine. Odd-chain fatty acids and cholesterol are also not utilized correctly. In practicality, treating PA by dietary management alone would be analogous to treating diabetes without the aid of insulin! A roller coaster ride of protein levels and low or absent PCC combined with the body trying to grow and develop results in the PA patient constantly walking a metabolic tightrope. Bacterial and viral illnesses that other children tolerate can be life-threatening for PA children resulting in hospital stays, family and financial stress and a weakened condition for the patient.
Neurological damage and global developmental delay are common for PA children, especially for those born in states or countries who still do not screen for PA at birth. Children can be diagnosed at birth by a simple blood test included in expanded newborn screening. Unfortunately not all states in the US provide this testing which can save some children from catastrophic brain damage. Children diagnosed with PA are treated quickly with a low-protein diet, carnitine supplementation and sometimes biotin. Children diagnosed early have a better chance at progressing developmentally than those diagnosed later who have consumed a high-protein diet resulting in prolonged, elevated levels of PA toxins in their bodies.
The emotional and physical toll on parents and siblings of PA patients can be enormous. Adequate nursing and respite care to help ease the daily strain of caring for a PA child is often difficult to find or afford. PA families must adapt to a never-ending series of stresses in caring for their PA child. Despite these stresses and the amount of work that parents face in raising their PA kids, many will share stories of great personal growth they feel they would not have achieved without passing through the fires of PA. Parents ultimately find the strength and courage to be constant advocates for their child.