My name is Samantha. I was born with an ultra-rare genetic disorder called Maffucci syndrome. It causes bone tumors and vascular tumors to grow throughout my body. There is no cure, it’s progressive, and the treatment for the majority of my life has most been to get yearly scans and to “wait and see”. Depending on a variety factors, including if they become malignant or impact my mobility, they may be surgically removed.

But, in August of last year, I got the most terrifying news of my life: bone tumors have started growing in my skull.

These tumors are located in the skull base and are sandwiched in between both internal carotid arteries, touching my basilar artery, and are compressing my pituitary gland and optic nerves. Because of these tumors, I have been dealing with visual disturbances, hypopituitarism, worsening migraines, and secondary adrenal insufficiency, which is life threatening on its own. However, because of where these tumors are located, even a small amount of additional growth could permanently damage my vision, lead to permanent blindness, and significantly increase the risk of devastating neurological complications, including stroke and death. “Wait and see” is no longer an option.

In January, five months after we first found the tumor, the first neurosurgeon I saw in Miami said my tumors are “inoperable” because they’re extremely invasive. I was recommended to wait to see if an experimental gene-targeting chemo that I am taking would shrink the tumors in my skull. Fortunately, it started to shrink some of the largest and painful tumors in my body. But unfortunately, it has had zero impact on my skull tumors. After months of waiting to see if it would work on my skull tumors, I was gutted.

Then, I got incredibly lucky that one of my lovely followers put me in contact with this world renowned neurosurgeon from Pittsburgh who specializes in skull base tumors. In late June, I had a telehealth consult with this neurosurgeon and was told it is most definitely operable and that he could do it. I cried after that appointment because, for the first time in months, I had hope.

The surgery that I need is called a transpehnoidal endoscopic endonasal transclival approach with pituitary transposition, and, even though I have had over 20 surgeries in the last 22 years, this next one is by far the scariest. Although the benefits out weigh the risk, brain surgery is still risky, but the risk of waiting and doing nothing are far higher.

Additionally, the neurosurgeon performing this surgery, as well as my endocrinologist, informed me that my secondary adrenal insufficiency may potentially be reversible if they do the surgery. It's not guaranteed, but I'm willing to take the risk because this would greatly improve my quality of life if my pituitary gland recovers after the decompression.

The good news is that my insurance is covering the surgery itself. The hard part is the everything else that comes with it.

The surgery is out-of-state and my dad will have to travel with me and be my caretaker while I recover. My brother is also Disabled and cannot be left alone without supervision. Between transportation, lodging, meals, and the loss of income for both myself and my father, the costs are overwhelmingly devastating.

I'll be honest about something I haven't really talked much about publicly: when we found out I needed this surgery, my dad and I were devastated because, even though I finally found a skilled neurosurgeon who’s able to perform the surgery, we would not be able to afford it. We have been able to get by over the last few years, but it has been extremely difficult. My dad is old enough to retire but still has to work blue collar gig jobs to make ends meet. In fact, we actually had a conversation about selling my childhood home to afford this. The thought of that broke my heart. This is a modest house my dad bought decades ago, before my mom passed away due to cancer when I was a teenager, and before his then-successful business failed. Ironically, it's also the same house people see in the background of my videos and assume means I'm wealthy. The reality is that, between losing my mom, my dad’s business failing, and my brother and I both being Disabled and being constantly hospitalized on-and-off over the years, these compiled hardships have been financially devastating for my family.

We ultimately decided that I couldn't risk my family becoming homeless so I could access lifesaving medical care. No one should have to choose between a roof over their head and the medical care they need.

I've rewritten this fundraiser so many times because I don’t really know how to ask for this kind of help. For weeks, I've been trying exploring all of my other options to avoid this. I thought if I could just sell a few more items from my small business, cut a few expenses, or find a charitable organization, I could figure this out without asking anyone for anything. But, after months of sleepless nights, I have not been able to figure it out.

As difficult as it is for me to ask, I truly need help. The weird thing about all of this is that this has also been the most hopeful year of my life.

For the first time ever, the gene-targeted chemo I started taking last October has actually started shrinking the tumors throughout the rest of my body (not my skull unfortunately) After spending my entire life watching this disease progress with no treatment, seeing those scans felt surreal. For the first time in a long time, I can actually picture a future that's bigger than doctor's appointments and surgeries.

For the first time in my life, I can picture a future where my life isn't dictated by surgeries: A future where I get to pour that energy into creating content that helps Disabled people feel seen, keep advocating for people with rare diseases and showing that our lives are about so much more than our diagnoses, into designing adaptive clothing that makes Disabled people feel beautiful, and into living instead of constantly recovering. This surgery doesn't cure my disease, but it gives me the opportunity to protect what these skull tumors are threatening to take away, and to keep building the life I've been fighting so hard for.

If you're able to donate, thank you. Truly. Every contribution, no matter the amount, helps lift a little bit of this burden off my family so we can focus on what actually matters: getting me to surgery, getting me home safely, and being able to focus on recovering.

If you aren't in a position to donate, sharing this fundraiser would mean just as much.

Thank you for supporting my family, and for helping me get through what is hopefully one of the last major hurdles in this chapter of my life.

With love,

Samantha

Transparency note: We built this goal using our best estimate of the costs associated with my surgery and recovery, including travel, lodging, caregiving, and other medical expenses. If this fundraiser exceeds its goal, any additional funds will go toward my ongoing medical care and recovery. Living with Maffucci syndrome is lifelong and debilitating, and my medical needs won't end after this surgery. That includes follow-up care, medications, future travel for treatment, including establishing orthopedic oncology care at Johns Hopkins after my current Maffucci syndrome specialist retires soon, and helping ease the financial burden that years of complex medical care have placed on my family.