The Oddity of Odds in a Year that Bent Us

The Oddity of Odds
in a Year that Bent Us
(August 2020)

It’s a rainy Monday, the eve of the start of an important month and I find myself simultaneously at a loss of words while so many are swirling through my head.

September is National Newborn Screening Awareness Month.  When babies are born, they are tested for various treatable or curable conditions.  However, not every state tests for the same thing.  My husband and I have been huge advocates for every state testing equally so that every child has an equal chance at the start of life.  Our fire was started after we learned of our son Gabriel has Pompe Disease through a newborn screen. 

Our fire was stoked after discovering – thanks to what we’ve learned after discovering Gabriel has Pompe – by the blow we felt earlier this year:  Our daughter Eila also has Pompe disease. 

Last summer, Eila began complaining about leg pain and lethargy.  She felt it riding her bike, walking too long and climbing the stairs.  Often the signs of Pompe can be overlooked and untreated for years.  But, we knew what to look for and began testing her in January.  We got an official diagnosis in June. 

What is Pompe? It is a rare genetic condition seen in about one in every 40,000 births. People with Pompe don’t make enough of the enzyme that breaks down glycogen (sugar) in their bodies. We all need that glycogen to feed our muscles. Too much can be a bad thing. Over time – a short amount of time or years – the glycogen begins to build up and suffocate a person’s muscles. Once this happens, there is no going back. The muscles (think heart, lungs as well as limbs) cannot recover. In 2006 the FDA approved an Enzyme Replacement Therapy which is improving, lengthening and saving the lives of people with Pompe. 

What are the odds?  There’s a 25% chance a child born to carriers of Pompe will have the disease.  Out of our three biological children, two do.  I’m not sure what that means for our family.  We know we hit the Jackpot with all of our kids so it doesn’t matter.  

What’s next:  We’ve been blessed with an incredible Genetics Team at Children’s Mercy.  We have great faith in them as they’ve guided us through Gabriel’s life with Pompe since he was days old and now – along with an exceptional group at Duke University – are shepherding us through Eila’s journey.  More testing needs to be done to see whether she will need treatment beyond physical therapy any time soon. 

As I told family, we are on the opposite side of the “know” with Eila’s diagnosis, which can be a gift and a thief at once.  When Gabriel was born, we were able to push aside our fear and grief at times and fill that space with learning about the disease.  But, with Eila there isn’t much to Google or process in terms of knowing what this is.  That leaves plenty of room to wonder how it will affect our sweet and perfect girl.

Eila has been a champion since being diagnosed.  I asked her how she wanted to handle this in terms of telling people or keeping it private.  She quickly said she wants everyone to know because the more people who know the better chance we have for a cure.  She’s right.  And, she’s just nine.

I cannot underestimate the importance of screening newborns in all 50 states for this disease.  Eila was born before they began screening babies for Pompe.  Yet, one screen – Gabriel’s – has the potential to save two lives.  It isn’t just this way in our family.  I’ve seen it several times in the Pompe community.

A friend of mine reminded me that no matter what lies ahead, hope is at hand.  We have a ton of hope, along with friends and our faith.  We also have a normal, crazy, messy, loud, sticky life with kids whose days are occupied with getting another snack, staying in their pajamas, wondering whether we’ll say “Yes” to more screen time and inevitably asking for “10 more minutes” of you-name-it.  It’s a full life and a fun life. 

Odds be damned, 2020 may go down as The Year that Bent us, but certainly not as the one that broke us.