Leo

Isovaleric Acidemia, 20 months

Leonardo was born on November 27, 2021. He was the second child of ours, and he was seemingly perfect. I gave birth to my first child in April of 2020 in the midst of the pandemic where he was taken from me at birth for fear that I had COVID.  Needless to say, I was eager for a more normal childbirth and the chance to hold my baby skin to skin immediately after birth.  Leo did not disappoint! After the normal few days in the hospital with normal results on all tests, we were sent home.  Approximately 3 days into our time at home together, I received a phone call while napping trapped by my new baby.  The phone call was akin to a bucket of cold water being poured over my head, awakening me from this newborn baby bliss.  I was so caught off guard by what this doctor was telling me that I barely took in the suspected diagnosis.  I was told to follow up with a geneticist and dietician immediately to schedule an appointment.  I remember calling my husband frantically who was at a haircut and crying into the phone about some medical condition that I had never heard of.  He rushed home, and we immediately started googling, which was probably mistake number one.  Mistake number two was the fact that in my stupor, I got the name of the condition wrong and researched the incorrect diagnosis under the umbrella of Organic Acidemias.  Another call that we made after scheduling an appointment was to my OBGYN who had done my genetic testing.  They looked through their testing manual and told me, “we don’t test for those genetic diseases because they are so rare, and when a woman would come up as a carrier, it would just scare her.” This kind of infuriated my husband and I who felt like this should absolutely be tested for, rare, or not rare, so that if something were to go wrong at birth, they would have some idea as to what the course of action should be.  I still am not sure if they have changed this policy.

The next month is a blur of blood tests, urine samples, doctor visits, and an eventual diagnosis of Isovaleric Acidemia (IVA).  Our genetic team and dietician were patient and empathetic throughout the whole process and our dietician quickly became a part of our family, responding to all of my questions throughout the day via text and phone call. He was started on the IVA Anamix early years formula, carnitine, and glycine which were all mixed into breast milk that I began pumping every 6 hours.  I was still breastfeeding overnight, but I mourned the inability to breastfeed throughout the day as I was unable to do so with my first son. Despite how concerned our family was, our little Leo was anything but concerned.  He slept through the first round of bloodwork and continued to be what seemed like a normal baby (except for being an abysmal sleeper for about the first six months!).  After a few trial and errors, Leo started accepting the formula and medicine and everything seemed to be on track. 

His first year certainly had its ups and downs, especially when it was time to send him to daycare. I remember our team telling us that we won’t really know how severe his IVA was until he got sick, especially with a fever.  They did assure me, however, that he was safe to go to daycare.  We barely made it a month before Leo got his first daycare sickness.  Fortunately, despite his fevers, he always drank enough and remained healthy enough to avoid the hospital until December of 2022 right after his first birthday when he had to be hospitalized for 3 days due to dehydration from a stomach virus that lasted about 6 days.

Leo is now 1.5 years old and is generally a happy and healthy kiddo.  He loves playing with his older brother, going to swim class, being outside, screaming, and playing with cars.  He is still not the greatest eater, but we try so hard to diversify his diet in any way that we can with vegan cheese and gluten free bread product.  He is now allowed 12 grams of protein a day, and we have begun to introduce small amounts of dairy into his diet as well as small amounts of eggs (which he loves).  We also currently mix 2 ounces of oat milk into his formula bottles to give additional natural protein and flavor. 

We are so proud of him and how far he has come. We are also so grateful for this community and the support that it has provided us as well as the awareness and education that it provides the rest of the world.  I hope that this story reaches someone struggling or who can simply relate. We are so excited to see what Leo can conquer in this world!

Amanda

aacca88@gmail.com

Oakland, New Jersey