How do you sum up 2 years of medical appointments, learning how to be parents, and discovering your child has a life limiting ultra-rare diagnosis?

Every time I sit down to tell our story, I struggle with the amount of life we’ve lived in 2 years time. 2 years has gone by in the blink of an eye and simultaneously dragged on for what seems like an eternity. 

For 2 years we tried to get pregnant. For 2 years, we did fertility treatments. For 2 years we prayed and hoped we would get to be parents. We dreamed about what life would look like with a baby. We read and studied developmental milestones, researched car seats, cribs, and ways to keep our potential baby alive and healthy. For 2 years we wondered why it was so hard to get a positive test, why the universe didn’t want us to be parents. 2 years felt like 20 years. 

Then, we got pregnant. We did genetic testing at 12 weeks, everything came back normal, and we learned we were having a boy! We celebrated and hoped. I loved being pregnant. My body did not. At 30 weeks, I developed preeclampsia. I was followed by high risk OBGYN and had 2-3 appointments a week. I was sent to Labor and Delivery 4 or 5 times t because of my blood pressure being too high. I had steroid shots to develop his lungs because it was becoming increasingly clear that I wouldn’t make it to full term. 

Jack was born premature. He was so tiny. Only 4 pounds 9 ounces. He struggled. His APGAR scores were 2 and 7. Not great. He tried to learn how to breathe and regulate his temperature, but he needed help. So he went to the NICU. He ended up staying there for 17 days. 17 days felt like 20 years. 

We brought our teeny tiny peanut home and we looked at each other and said, who let us take this tiny baby home?! How the heck do we do this?! We watched him and stared in awe at every noise and movement. We had never been parents before so we didn’t know he was falling behind. 

Around 3 months old we had an hour follow-up appointment with a developmental pediatrician because he was a NICU baby. We knew he was having a hard time holding his head up, so we expected a referral for physical therapy. We ended up leaving with an urgent referral to a neurologist and a high suspicion of Cerebral Palsy. That’s not how it was supposed to be. 1 hour felt like 1 year. 

A brain MRI showed us he did not have Cerebral Palsy. The next few months, we added so many specialists to Jack’s care team. Everyone could agree “something” was wrong, but no one could figure out what. All roads led to a geneticist. We agreed to full genetic testing for myself, my husband, and Jack. And then we waited. We waited for 2 months. 2 months felt like 2 years. 

A week before Jack turned a year old we got the call. You know the one. The call that divides your life into “before and after”. Before we knew, and after we knew. Jack was diagnosed with Allan-Herndon-Dudley Syndrome, or MCT8 deficiency. I spent 40 minutes on the phone with a genetic counselor who told me my son would probably never walk or talk, he’d probably never develop cognitively beyond a 6 month old, he’d never be able to live independently, he’d need me for all his daily care, and he’d probably only live until he was in his mid-teens. 40 minutes changed my life. 40 minutes and the world shifted. 40 minutes felt like 40 years. 

Jack turns 2 in 4 days. I have a 2 year old. I can’t quite wrap my mind around that. We’ve survived too many doctor’s appointments, hospitalizations, therapy appointments, procedures, and blood draws to count. We’ve shifted our mindset and our perspective on the future. Our hearts have both hardened and softened. Time passes differently now. 

Jack is doing well. We are doing okay. We now study the endocrine system, articles in medical journals, drug trials, and how best to advocate for our boy. We live our lives in how many ounces did he eat today, how many milliliters of meds did we give, and how long does it take to get to this appointment. We have either physical, occupational, speech, feeding, vision, or aquatic therapy every day. We have at least 2-3 doctor’s appointments a month. We travel to a speciality hospital twice a year. 

So how do I sum it up? Because it’s only been two years, but I counted all the time it’s felt like, and that’s 83 years. It’s been the most excruciating and joyous 2 years. We found an online community of other families whose boys have this disorder. We’ve grown as a couple, a family, and as people. Life is different now, in the “after” the phone call part…but it’s still our life. It’s the life we prayed and hoped for. It doesn’t look like what we wanted and it isn’t what I would have picked, but it’s our life. Plus, look at that smile…he makes my world turn.