My husband and I recently celebrated 15 years together which might not seem like a long time for many, but we were around 15 years old at the time we met. Our lives were in perfect order; we completed college, secured great careers, married, and bought a beautiful home to grow our family. These were all things that we planned for before we decided to finally have children. We did not know at the time but God was preparing us for many upcoming challenges.
Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 months) had the same elevated screening when he was born and then it was deemed normal based on the repeat test.
While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Shortly before our expected release the genetics team which we had met with just days before about Elise entered our room.They indicated that they thought Mel might have what they thought Elise has MMA or PA and he had suffered a metabolic crisis. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA.
My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong. No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, lethargy, not thriving, staring spells, wobbling, and acid breath. This was at the time our only child and we depended on experts to help us figure out what was happening to our baby.Both Mel and Elise are developing well; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl.
Our goals are to continue to closely monitor the kid’s diet to take every precaution to keep them healthy. We are researching and considering PGD/IVF and cord blood banking in hopes that our future children will not be affected and can supply Mel and Elise with a potential cure from the cord blood. I have been in touch with newborn screening advocates to find out how we can share our newborn screening failure story with others and changes are made in the processes so other families do not have to face the challenges that we have.
As I stated earlier God chose us to protect these babies and we will continue to fight for them. Elise was brought into our lives to save her brother; just days after her birth her brother started to lose his fight with PA and because of her help the doctors were able to save his life. We feel that our children will always have a close bond with each other and this will be quite the story to share with them when they are older and learn to protect one another time and time again.

Update 3/2024


It has been 12 years since we received their diagnosis, and they are both thriving. I attribute their wellness to a decent variant of PA, healthful living and Gods will. It is not popular with everyone, but we opt to treat them more holistically through daily supplements (Aspire, Fish Oil, CoQ10, and Dose for your liver) They are both on levocarnitine to help them cleanse and a low dose of Enalapril to prevent known heart issues in PA patients. Aside from that we try to eat healthfully and exercise. In some ways it is easier that they are older and understand how their bodies feel when they consume too much protein or if they have a cold and need extra sugar to feel better. In other ways it is more difficult to not be able to control portions and keep them away from some of their favorite foods.

Mel is a teenager and about to enter high school. He has many friends, braces, a cell phone, loves sports cars, politics, video games, and is always the funny guy. He will try any food and will take on a spicy food challenge.
Elise is in 6th grade, she has an amazing circle of best friends, also with braces, a cell phone, enjoys reading, sewing, art, performing in school plays, and is an avid equestrian.

In addition, we have two other amazing children that do not have PA. They however have other conditions that keep us on our toes: Silvia (Cystic Fibrosis) and Aston (Peanut Allergy).

Our family will never let PA define who we are, it is just something that we deal with. For now, they are normal children with a healthy lifestyle and forever connected through a miracle that has kept them together beyond the statistics.

If there is anyone that would like to know more about how our family manages PA, we are happy to share our lessons in advocating for children, holistic living, PGD IVF, Brain Balance, or whatever else – lets connect.


Mel & Nicole