Annabelle Grace McKinney was born on Tuesday, September 20, 2016. Wednesday in the hospital was wonderful and the pediatricians that checked her out said she was perfect and that they couldn’t find anything wrong with her. On Thursday, right before we got discharged from the hospital, she started becoming lethargic and didn’t want to wake up to eat. The nurses at the hospital didn’t seem too concerned since she cluster fed the night before and they told us her feeding would pick back up later that night. However, once we got home her lethargy got worse, she still wouldn’t wake up to eat, her limbs were lifeless and floppy, and she had a very low temperature of 95. After consulting the pediatrician and unsuccessfully trying to give her formula, we took her to the ER at Brenner Children’s Hospital early Friday morning where they started running extensive tests. All day Friday she remained lifeless as the doctors quickly tried to figure out what was wrong with her (it was the worst and longest day of our lives). By that evening they determined that she had some sort of metabolic disorder based on the high levels of ammonia in her blood (her ammonia had reached in the 500’s when a normal person’s ammonia is below 50). Late Friday night (at three days old) she was in surgery to put in catheter ports and started dialysis around midnight to quickly filter the ammonia out of her bloodstream. They told us she would likely be on a slow continuous dialysis for 1-2 days, but after only 15 hours her ammonia
levels dropped enough to take her off dialysis and start her on medication to maintain those levels. By Saturday afternoon we got the diagnosis of PROPIONIC ACIDEMIA (PA) which is a very rare genetic metabolic disorder (only about 1 in 100,000 children are diagnosed). Mike and I are each carriers of the PA recessive mutated gene and passed this on to Annabelle (based on our genetics any child we have will have a 25% chance of getting this disorder). Individuals with PA cannot break down parts of protein (4 specific amino acids) due to a non-functioning enzyme called PCC. This non-working enzyme causes a build-up of harmful substances (like ammonia) which can cause damage to a person’s organs. There is no cure or gene therapy for PA, so Annabelle will have to adhere to a very strict, low-protein diet for the rest of her life. She can also not go without eating for long periods of time so she is on a strict feeding schedule (she had a gtube placed at two weeks old to ensure we can keep nutrition in her even if she won’t eat by mouth). Since PA is a metabolic disorder, the largest scare comes whenever she has an illness or infection causing her metabolism to speed up. If she does not have enough nutrients in her system when her metabolism speeds up or during a large period of fasting then her body will start using up stored protein within her body, which can be as bad as eating protein. For this reason, even a small illness can put us in the hospital to get fluids to avoid a metabolic crisis like when she was born. Anytime there is a crisis there is a risk of organ damage due to increased ammonia in the blood. Therefore, many children with PA have some degree of developmental delays and many also develop heart conditions like cardiomyopathy. Liver transplant has been a proposed treatment to lessen the severity of the complications from the disease and greatly improve the quality of life. The liver does a bulk of the body’s metabolism so if she gets a new liver with a working PCC enzyme then her liver would be able to process and breakdown the protein that her body could not do before. It’s not a complete cure but does greatly decrease the chances of having a crisis. Since Annabelle has a severe form of PA we decided to pursue transplant. We have a long road ahead but are grateful for God’s faithfulness. We appreciate you following this site to stay updated on little Annabelle. She is so loved and prayed over by so many!