Our Story

Her name means WARRIOR.

When we named her, we never thought she’d be in this kind of battle for her life. Our warrior princess, Sloan Elizabeth, has been diagnosed with Gaucher Disease, type 2. How could our beautiful, precious peanut be diagnosed with a fatal disease we’d never heard of?

Gaucher Disease, Type 2 is the most severe form of an extremely rare genetic lysosomal storage disorder where her body doesn’t make enough enzyme that causes toxic buildup of certain fatty lipids. It mostly affects her spleen and liver, but most damaging is that it is a neurodegenerative disease that will cause the rest of her body to rapidly decline. The scariest, most dreadful part is that our darling baby girl isn’t expected to make it to her 2nd birthday… we cannot accept that outcome and will fight this with everything we have for our little warrior.

When Sloan was born, I didn’t realize anything was wrong. She looked like the beautiful, perfect newborn we had been waiting for. I held her and it was the most magical feeling. After a completely normal/uncomplicated pregnancy, an entire day of natural labor (no drugs, what?!), a completely sleepless night, we finally welcomed our happy and healthy bundle of joy. Her Apgar scores were great and being 11 days early she was in normal weight range and long (destined to be a basketball player like her mom and dad!). After she was all cleaned up, one of the nurses mentioned she was still very red, but probably was nothing to worry about. Looking back, the nurses also spent quite a bit of time trying to suck out the congested noises she was making even though they said her lungs sounded clear… another sign of her disease we now know. After a few hours, her red skin got very dry and was peeling, she was diagnosed with congenital ichthyosis, which we now know is a physical presentation of her disease. When I glance at her newborn pictures, I can’t believe how scary. I hadn't even noticed since my heart was completely overflowing with love for our little family.

Our happy bubble quickly burst as we spent the first month at appointment after appointment. When Sloan’s newborn screening test came back with an abnormal hit for lysosomal storage disorders, we did an excess of googling on false positives of newborn screenings, blood spot tests, etc. We were convinced there was no way Willie and I were both genetic carriers of this terrible disease, just no way the chances. Hearing tests, eye exams, endocrinology, skin biopsy, more blood work, more weigh-ins, even more blood work, more doctors and specialists (even a cross country road trip to see one)… it just kept going on and on. More tests, more waiting, more questions and not enough answers. We have our entire extended family medical histories memorized at this point and their possible linkages to Sloan’s disease. Each time it struck me, how resilient our families have been in the face of a lot of pain and suffering. And we’ll have to do the same. Then I ask the inevitable existential questions: Why us? Why did God choose this path for us? What are the life lessons we’re supposed to learn from this? Is this just the baggage we’re meant to carry in this life so we’re better prepared for the next? I find myself praying a lot more and relying on my faith more than ever, but how do I resolve my anger towards God for this diagnosis and beg for His mercy at the same time?

Maybe in time we’ll come to see the light from all of this. We have already experienced an outpouring of love and support from family and friends. We are eternally grateful for all of the help we’ve received so far. I fear we will need to continue to lean on our loved ones as we get further into the disease management phase, which we can’t yet determine how long or challenging that will be. But we also do have some new hope! There is a gene therapy clinical trial and Sloan would be among the first to receive it. We trust God and we trust science and with both helping us through this, we’re praying this will be our miracle!

Every day is an exhausting guessing game of challenges (is this a normal newborn behavior or is it a symptom of disease progression), but we’re trying to treat every day with her as a precious gift. We cherish every snuggle, every coo and gummy smile she gives us, and spoil her with as many contact naps as possible. We are at our happiest relaxing with our peanut sound asleep in our arms or snuggled on our chest. There’s nothing in the world I would trade for those moments. She is our everything.

Thank you for being on this journey with us. We will continue to provide updates here. In the meantime, please keep Sloan in your thoughts and prayers - whoever you pray to, we need all the help we can get.

Sloan’s Mom,
Maggie