Support Jack's Battle with MCT8 Deficiency

#wegotyourbackjack

Hi! My name is Meghan and I am the mama to a tiny superhero named Jack. My husband, Tom, and I went through a year of fertility treatments to get our miracle.

Jack was recently diagnosed with Allen-Herndon-Dudley Syndrome also known as MCT8 deficiency. It is defined as “a rare genetic disorder that affects a child’s cognition, mobility and overall health. In individuals with AHDS, thyroid hormone is unable to enter cells in the brain because of a defect in a thyroid hormone transporter called MCT8. At the same time, excess thyroid hormone enter tissues in the rest of the body, which typically leads to life-threatening complications. The result is that patients are born with permanent and severe developmental delay from hypothyroidism (not enough thyroid hormone) in the brain while at the same time they experience hyperthyroidism (too much thyroid hormone) in the rest of their body, leading to intellectual disability, decreased muscle tone, disorganized movements, restless sleep, increased heart rate, failure to thrive/inability to gain weight, and, ultimately, severe infection and cardio-respiratory failure. There is no known cure for MCT8 deficiency at this time. Life expectancy may vary; even with excellent care, many patients experience a shortened lifespan due to malnutrition and overwhelming infections. Patients diagnosed with MCT8 deficiency require extensive care, either from primary caregivers or from assisted living facilities. Most children will live into young adulthood but will never develop the ability to walk independently or talk with others and will rely on caregivers for daily activities such as feeding, bathing, hygiene, getting dressed, transportation/movement, and administration of medications and other forms of support.”

We received this diagnosis 2 days before his first birthday and our world changed in an instant. Overnight, I became a full-time caregiver to a medically complex child. The last month has been about grieving the future we had dreamed up for him, adjusting our perspective on what our life will look like, researching and becoming pseudo experts on his disorder, and trying to slow down and appreciate every single day we get with him.

To say it’s been hard is an understatement. There’s a duality of emotion; we prayed and fought so hard for this little dude, and knowing what we know now, I would still choose him a billion times over. But this isn’t what we prayed for. A mama should never have to bury her child. I feel like there’s a ticking countdown over his head that I can’t see, and it’s terrifying and heartbreaking.

Jack is the sweetest, spiciest little boy I’ve ever met and he’s working his hardest to defy the odds placed before him. He has an amazing team of doctors and therapists who refuse to give up on him, and push him to exceed expectations. He’s our baby peanut who screeches like a pterodactyl whenever he’s in the car, loves smiling and cooing at mama and dada, needs to hold onto my shirt to fall asleep, and charms the pants off everyone he meets.

We decided to set up this GoFundMe to help pay for the genetic testing that was not covered by insurance, purchasing an adaptive seat for home so we have an option besides laying him on his back all the time, purchasing an adaptive bath seat, purchasing another car seat for my husband’s car, (hopefully) travel accommodations to Philadelphia if CHOP decides to take him on as a patient, and other things to be added as he grows and needs different equipment that insurance doesn’t fully cover.

Asking for help is extremely uncomfortable for me, and I’ve gone back and forth about starting this page. I completely understand that not everyone is able to contribute, and I don’t ever want to impose on others. If nothing else, I just want you to know Jack’s story, share it, and send up some good vibes to whomever or whatever you believe in that we get to continue loving this boy as long as we can.

Thank you. Truly, thank you, from the bottom of our hearts.

I’ve added a link to his Caring Bridge website below as well.

Jack’s Caring Bridge