Help Phoebe's journey with MLD

Our daughter, Phoebe, was diagnosed with metachromatic leukodystrophy (MLD) in May 2024. MLD is a rare terminal genetic disorder. It’s a vicious and cruel disorder that currently has no cure or treatment options. Life expectancy post diagnosis can go into a few years for some, but currently for Phoebe it is less than 18 months.

Our journey with MLD is a familiar one in the MLD world. Phoebe was a perfect little kid. She hit all her developmental milestones as scheduled, but was taking her time with walking. That’s where our story begins.

Phoebe was cruising and pulling herself up to stand, but wasn’t willing to stand or walk on her own just yet. At our 15-month appointment, our pediatrician recommended PT to help her. After a few months of PT, we weren’t noticing any progress, and instead she seemed to be regressing. Phoebe stopped showing interest in things she used to love. She stopped walking with her walker, playing with her favorite toys, turning the pages of books as we read and crawling up the stairs. Then, in April things began to rapidly change for Phoebe. She could no longer feed herself or hold a bottle up with her hands, she struggled to sit on her own, would scream to point of total exhaustion during car rides, had difficulty holding up her head and began to cry during her baths. We were noticing a loss of skills from week to week. It was confusing and scary time.

We saw a neurologist in early May who had some tests done, including bloodwork, MRI and genetic testing. After Phoebe “passed” each test, we kept our hopes up that this was just Phoebe being stubborn and everything would be fine. She might need some extra therapy to get her up-to-speed with other toddlers, but it would all work out. That ended when Adam and I learned that we were both carriers of a rare genetic disorder that we passed down to our daughter. Phoebe had a 1 in 4 chance of being diagnosed with MLD with both of us being carriers. Life can be cruel.

We are heartbroken and devastated over this diagnosis for our perfect little girl. Things are progressing quickly for Phoebe so we’re trying to make the most of the time we have remaining with her. Much of this looks like doing things you would do with any toddler - parades, fireworks, trips to the zoo, going to the beaches of Lake Michigan, first Cubs game, etc.

In order to do these things, we are focused on keeping Phoebe’s quality of life as good as we possibly can. Right now, that’s through multiple therapy appointments a week and meeting with doctors and specialists to navigate how to keep Phoebe as healthy and comfortable as we can.

We’ve quickly learned that caring for a sick kid gets expensive - and fast. In addition to doctor appointments and tests, special needs items are more expensive than you could ever imagine and oftentimes insurance does not cover the cost or the time burden to get them covered is too much as Phoebe’s needs are changing on a nearly weekly basis. Your donation would help us cover the costs of medical care (doctor visits, therapy appointments, medication, etc.), quality of life supports (furniture to help us keep her comfortable and safe during feeding time and a place for her to sit on her own), adjustments to childcare (while Phoebe’s daycare have been angels, her needs may soon exceed what they can handle and we will need to make alternative arrangements) and prepare for the heart wrenching pain of planning her end of life care.

We never expected we’d be here writing a request like this, and quite frankly we’re uncomfortable doing it. But we also have learned that to care for a kid with MLD requires a lot of doing it on your own to get equipment and care that makes your child comfortable. Phoebe deserves the world so we’ll set aside our feelings and ask that you help us in any way you can so she can get what she needs.

If you’ve ever met Phoebe, you know what a special kid she is. She’s kind and smart. She’s an independent gal who loves to giggle. She loves to read books and is a big fan of Sesame Street. She’s got the cutest chubby cheeks you’ve ever seen. She has the most beautiful brown eyes that she got from her dad. She loves walks and cuddling. She loves birdwatching out the back window and petting our dogs. She’s a true water baby and loves splashing and kicking in the bath and at the pool. She’s our whole world and we love her so, so incredibly much.

Thank you for your support. Regardless of if you can provide monetary support, we appreciate everything you’ve done for our family. The kind words, thoughts, cards, home cooked meals and treats, dog walks, checking in texts and calls, coffee and just stopping by to let us vent and cry - it’s all meant the world to us. It’s difficult to know what the worst day of your life will be before it happens. Nothing will make the pain go away, but we know we are loved and that helps. We love you all.

If you’d like to learn more about MLD, visit Cure MLD. More research, early testing and trials are being done each day. While Phoebe may not get the benefits of this progress, we hope that less families will face this heartbreak in the future.