Propionic Acidemia

November 11, 2021 – April 14, 2022

As a little girl, when asked what I wanted to be when I grew up the answer was always the same — a mom.  Since I can remember, I have wanted to have children.  When my husband and I began our journey to parenthood, we didn’t anticipate there being so many bumps in the road.

After a miscarriage and a stillborn son, we learned we were pregnant again.  This time I could feel it was different, I was incredibly sick, I had all the symptoms, and most importantly the baby was receiving great remarks at every scan!

As my belly grew, so did our excitement for the birth of our son.  We decided on the name Benjamin “Bennie” Jackson Graham for our special boy.  Bennie was to honor my grandfather, and Jackson to honor his stillborn brother, Jack.

Aside from pre-eclampsia at the very end of my pregnancy, my pregnancy was rather textbook and uneventful.  I was induced at 36 weeks and on November 11, 2021, Bennie made his entrance into this world. 

He gave us a scare within the first few moments when he did not spontaneously take his first breath.  However, after suctioning and other light medical intervention, he was breathing!  The decision was made based on his delayed breathing and the fact that I was on medication for preeclampsia, that he would be transferred to the NICU for monitoring.

I remember being devastated that he would not remain at my bedside, but this is the decision that would ultimately gain us the most time with him; and for that I am so grateful.

The first few days in the NICU were uneventful, Bennie was a newborn doing all the newborn things.  We were new parent’s equal parts terrified and absolutely swooning over our precious blonde-haired blue-eyed boy! We were told that as long as he kept eating well and did not have any events of apnea, he would go home within five days. 

By day three (call it mother’s intuition) I felt something was amiss.  Despite being under the BilliLight Bennie’s bilirubin levels kept rising. He also had become disinterested in feeding.  We tried the breast, different bottles, and even a lactose free formula.  However, it was a fight to keep Bennie awake long enough to eat.  When he did eat, he would without fail spit most of it up within an hour.  We were told to relax, he was a preemie, this sometimes happens.

He needed to have a feeding tube placed to receive his nutrients. I recall being so devastated that he had to have something so invasive.  Knowing what I know now, this was only the tip of the painful iceberg that was Bennie’s medical journey.

With the placement of the feeding tube and the forced feeding of high protein formula and breastmilk, Bennie became very sick very rapidly.  He began projectile vomiting, he would not wake for more than a few moments at a time, and he began having what seemed like seizure like movements.  They decided to perform a sepsis workup, but an astute doctor also decided to check his ammonia level.  It was well over 500.

He was immediately transferred to a higher level NICU where he received a central line and lifesaving interventions.  His ammonia came down, and the metabolic team that was now working with him expedited his newborn screening and this is the first time we heard the words Propionic Acidemia. 

I googled, and goodness, I wish I hadn’t.  Nothing I found was good.  Nothing I found gave any hope.  I was almost certain that my perfect little baby boy would die of this terrible condition.

Our family decided to have him transferred to Salt Lake City to be with the metabolic team that was following him and to be at the highest level NICU available.  There he fell into another metabolic crisis and his ammonia was again over 500, and his lactate was reading at over 20 (the highest the hospital machines would read).  This went on for several days, they tried interventions to bring the lactate and ammonia down, but we were pulled into a separate room and told that they did not know why Bennie was still alive, and they did not know how much longer he would remain alive.

As any family would — we would not take that for an answer, and we tirelessly researched at his bedside.  It all seemed so hopeless; we had our sweet boy baptized in the hospital in anticipation of his passing.

It was decided in a last-ditch effort to save him that he would receive kidney dialysis.  It worked.  His lactate and ammonia plummeted, and our boy was on his way to recovery.

The following few months were uneventful, despite having necrotizing enterocolitis twice, he was mostly stable, and we were enjoying our family time with Bennie. 

Then Bennie fell ill again.  This time was different.  He was jaundice. He was sick, very very sick.  It was discovered that he had a blood clot in the portal vein of his liver.  This had turned to portal vein hypertension, and because of his medical fragility with PA, it quickly turned to cirrhosis of the liver.  He needed a transplant and fast.  The hospital we were at could not perform a transplant on a baby so young, and that is the point that our family decided to have Bennie transferred to Seattle where they perform transplants on babies that are just days old.

When Bennie arrived in Seattle he was in bad shape.  He was in full blown liver failure and was immediately listed for a transplant.  However, he had also developed sepsis and eventually septic shock.  He’d had sepsis before during his medical journey, but this time his fragile little body simply could not handle it.  He went into septic shock, the medication to keep his blood pressure up was not working, and he ultimately passed away in mine and my husband’s arms at just six months old.

The pain of losing a child is something that no parent, grandparent, aunt, uncle, friend, etc., should ever have to face.  The pain rippled out to all of those who knew Bennie.  But this is not the way I want Bennie remembered.  I want Bennie to be remembered as the smiling happy little guy that loved his stuffed duck, Jake.  I want him to be remembered as a valiant fighter that overcame so, so many odds.  I want him to be remembered as the absolute light he was in this world.

Through Bennie’s short journey on this earth, I learned the importance of living organ donation and the importance of research for cures of rare diseases.  During Bennie’s life I advocated for living organ donation and after his passing continued to do so.  It is amazing that someone can give the gift of life to another human being rather that be a child, adult, or otherwise.

I also continue to be a champion for research on Propionic Acidemia and do my part in educating those around me on the importance of funding for this cause.  I would love to live in a world where there IS a cure for PA.  Where no other family has to feel the absolute gut-wrenching pain of losing a child.  Though PA is a rare disease, what I try to convey to those around me is that this rare disease is your entire life when you have a child affected by it.  It not only affects your child but your entire family. 

My husband and I went on to have twin girls that by the grace of God do not have PA.  We are thankful for their health each and every day, but not a day goes by where we do not think of Bennie and all of those children affected by PA.  It’s a sinister and insidious condition that can take the life of those affected in a very short period of time. 

We need to find a cure.  We need more research.  Even though work is being done, we are still not there yet.  And even though liver transplantation is not a cure, it is something that can greatly improve the life of those with severe PA, so we need to champion for living and deceased organ donation.  I have made it my life mission to always do this in honor of my sweet Bennie.       

I hope anyone reading this does not shed a tear for Bennie.  Rather, I hope that they look at his sweet picture and feel the bright and shining presence that he was.  I feel so blessed that I was able to spend six beautiful months with the love of my life, and I will never forget Bennie for as long as I live; and after that I look forward to reuniting with my sweet boy pain and PA free!

Select Language