Rare

Today is Rare Disease Day and this year’s theme is: Day-by-day, hand-in-hand. I personally love that there is a strong movement of many coming together, from all corners, representing thousands of different diseases, all raising their voice together.

Rare disease is a very big part of my life and it’s not something that I have ever been particularly happy about. At 19 years of age I was diagnosed with Chrons Disease, the first of the rare in my family. Everyone felt bad for me. It was very hard to at that young age be dealing with debilitating pain as well as the financial issues that come with needing a lot of medical help. My case was extra special and the normal approaches at the time didn’t work. I was given the chance to enroll in a clinical trial at Mayo Clinic which I happened to live very close to. I am grateful for that opportunity as it was a turning point in my care. Sure, it was hard sitting in the infusion center with a bunch of very old cancer patients but I started to feel better and that made it worth it.

The next rare bird in my family is my mom. 9 years ago she had a massive stroke which lead to the discovery that she had Primary Amyloidosis, another rare disease, often featured on the show House as the worst case scenario. My mom was given a few months to live. Then there was an option to try a new combination of meds that might be helpful and they were. After a few years of that, a phase 1 trial started for a promising new drug, NEOD001. Next week, we will meet up with my parents after their trial visit at Stanford.

A year after my mom’s stroke we noticed that something was off with Claire. A few months later she became a card carrying member of the rare disease club when she was diagnosed with Rett syndrome. At the time there was no intervention. Today that is technically still true but I believe that Rett syndrome is going to be the next of the rare that is treated in our family.

Through all of this many people have expressed their sympathy, for me and for my mom as well as Claire. What we have is hard, it’s true. It is hard to live under a label that comes with many negative outcomes. That is why today, I am happy to celebrate being rare. 16516_784066991676588_6209312330877528079_n(1)

I hadn’t thought about it until I saw this graphic that was made by curerett.org. It is so easy to lose your identity to a diagnosis. I don’t want to see Claire as a Rett girl or see myself as a Chrons patient. We are rare, unusual, infrequent, remarkable, precious.

My mom has had more than 8 years more than what was expected past diagnosis. I have been able to do much more than was originally expected because of the treatments I have received resulting from clinical trials. Now Claire is in a clinical trial for Rett syndrome and we are hopeful that this is the beginning of a treatment to improve quality of life for her.

Together, day-by-day, hand-in-hand we are making the world a better place for people with rare diseases. I urge you, if you live rare and you have the opportunity to advance research by participating in a clinical trial, there isn’t a faster way to get treatment and the ability to create a better world for people like you gives back more than you will ever imagine.

Lessons from my Mom

Mom’s teach lots of things. Somehow I ended up a relatively functional adult and my mom had a lot to do with that. Still, the most important things that she taught me have been more recent. I was just shy of 26 when my mom had the massive stroke that forever changed her. She spent a month in a hospital as she started her recovery. Claire was just a few months old when she made her first visit to see her Nana at the rehab gym, something that later on would become part of Claire’s everyday life. The part of my mom’s brain that was most damaged was the part that affected speech. At first, she couldn’t speak at all, my dad drew pictures and pointed to them to ask what she needed, a laymen version of partner assisted scanning, much like what Claire relies on each day. With lots of work my mom walked before the doctors said she would be able to and quickly regained her hand use, her speech, that was a lot slower. My mom could speak but not be able to say what she wanted. Tears would stream down her face as she struggled to tell me what she wanted from the grocery store. She would say, “I know what I want, but I can’t tell you.” Life became a game of charades. She couldn’t spell or write at first but she could come up with the craziest clues. Once I figured out that she wanted pineapple juice when she yelled out that it came from Hawaii. She couldn’t say my name and if I pointed to where the sound came from in my throat, she could speak my dad’s name, Kevin. She taught me that being able to say what you think was completely unrelated to the thoughts that were in her head. I still shake my head in awe, that when Claire was still typically developing, making her vowel and consonant  sounds, we were taking my mom to speech therapy twice a week and learning how complicated communication is and the pathways in the brain that make it happen. As Claire has aged, the lessons from my mom have been among the things most important to me. It is easy for me to understand how Claire can know what she wants to say and just not be able to.

Aside from teaching me so much about intent and communication, my mom taught me about fight and risk and not giving up. When she was in the hospital the doctors said she would be lucky to get a few more months due to the condition that ultimately caused the stroke, Amyloidosis (it’s so rare and scary that half the patients on the show House get diagnosed with it). At the time my parents stepped out in faith with a new treatment, that hadn’t been proven effective but was really the only thing that might work and it did. This summer, my mom was able to begin a trial for a new drug to treat Amyloidosis. She has to travel from Arizona to the Mayo Clinic in Minnesota each month. Travel is hard on her, cold is very hard on her but she is doing it. The best part, it working. We hadn’t seen the results yet, but when I was talking with her on the phone I mentioned how much better she sounded. Her speech was clearer and she sounded less winded. Come to find out, after the first few doses of the trial medication she is in a fib less than half as often, her heart is dramatically healthier. Watching my mom defy the doctors, live when she shouldn’t be, healthier than anyone could ever have dreamed, she teaches me to not give up, to dream big. It is her example that inspires me to get Claire into the trial in Boston, to believe big things can happen, to remember that God is bigger than I can conceive.

Tomorrow is Claire’s 8th birthday and it is also my mom’s birthday. That’s why I post this story today. To celebrate my mom, who through nothing great or fun has taught me the lessons that I never would have imagined I needed to know. Thank you mom, for being a fighter and more stubborn than any doctor, for teaching everyone around you to slow down and listen to what you are trying to say. Thank you for paving the way for Claire.

Nana and Claire
Nana and Claire

Sidenote: my dad is really great too, my mom never spent a night in a hospital alone and wouldn’t be where she is today without his amazing support.