Rare Disease Day: A Choice for Future Babies

Our fourth little baby will be our fourth little boy. I’m thrilled to the depths of my being about this sweet life and yet, if you had asked me in early October if I wanted another baby, I would have answered with an unquestioning “no.”

That’s because part of pregnancy for us is making a choice from a menu of bad options.

Our oldest son Micah has Isovaleric Acidemia, a rare genetic metabolic disorder. His life is a miracle and, as you might expect, he has some struggles. I choose not to share those stories, even though I’m frequently asked about different aspects of them, because I don’t know where my story ends and his begins. It’s not my place to tell his story; that will be his job one day.

All of our children, including this little one growing inside me, have a 25% chance of having IVA. We have two options. We either have prenatal testing done (ie. an amnio that we opt to do in late pregnancy) or we wait until the baby is born to have him tested.

When Micah was born he was five days old before we realized there was a problem. Five days old before we rushed him to the doctor’s office and started this rare disease journey.  His newborn screening helped save his life but not quickly enough to prevent his metabolic crisis.

We’ve opted for the amnio with our second and third babies and we will this time as well. Not because I’m excited about having an amnio done- I’m not. We’re opting for the amnio because they did Caleb’s newborn screening three times before they got results and Micah was deathly ill in five days.

We’re opting for the amnio because I’ve walked out of the ER doors and watched them load my five-day-old baby onto a helicopter and fly away. I’ve been snuck into a NICU that was closed for surgery to see my baby boy one more time before they transported him to another hospital. I sobbed into my husband’s chest while the resident that ordered his transfer stood in the corner of the room and cried. (She also cried about a year and a half ago when Justin looked her up to call her and thank her for ordering that transfer.)

I’ve stood at the foot of an infant warmer with my six-day-old baby connected to more tubes and wires than I knew was possible having just signed the paperwork for a risky procedure. A procedure that he was too small for, a procedure they had never done on a child of his age, a procedure we signed for because the only alternative was to give up and watch him die.

I’ve walked into a hospital room after running out to grab a bite to eat and known by the smell (IVA has a very distinctive smell) that his ammonia levels had gone back up after coming off dialysis and we were going to have to try again. I’ve stood, rubbing the hair on my little boy’s head, praying desperately for him to come out of his coma.

I’ve sat, waiting for release from the hospital, terrified to take home this baby who has a disorder no one has ever heard of. I fed that baby for 18 months with a g-tube because that coma left him unable- and possibly unwilling- to drink his medical formula the “normal” way. I’ve changed g-tubes and even stepped an ER doctor through how to change an pediatric g-tube.

I’m more nervous about this baby having IVA than I was the other two times. Partly because Micah was hospitalized three times in 2016. And partly because I’m imagining these same scenarios except this time with three other small children to care for.

Of course the hope with doing the amnio is that we would know if this little boy has IVA and be able to prevent these complications. But it’s still a less-than-optimal option because the amnio has the possibility- no matter how slight- of causing my water to break which would mean we had a preemie. A preemie. And we’d once again be in the NICU, not knowing if he has IVA or not.

There are many things I enjoy about pregnancy.  There is a tiny person being knit together inside of me after all. God has blessed our family with this little boy and I can’t wait to meet him. Some things I can’t control and so I choose not to think about them. Other things I can’t control but I have to try to be prepared for different outcomes. This is that second scenario. Rare disease has affected our lives in many ways, including this strange mix of feelings about an otherwise happy event.

Rare Disease Day 2016: Through the Lens of IVA

Rare Disease Day 2015: Why I Quit Saying, “As Long As He’s Healthy”

Dealing with a Rare Disease Diagnosis