On January 20, 2014, a young girl, just turned 18 years old, received an email. That email was from NORD (the national organization for rare disorders) and stated that Genzyme was looking for patient partners for the Boston Marathon. The young girl actually opened up this email, which was surprising, and she thought long and hard about whether or not to join the team. She had already been a patient partner a few years ago on another team, and that was not a good experience. Did she want to do it again? Would it be as bad as the first time?
That young girl was me. My name is Natali and I am currently 19 years old. I live with a very, very, very rare craniofacial syndrome, called Jackson-Weiss Syndrome. I am actually one of just 5 in the whole world. I was not properly diagnosed with JWS until I was about 14. Prior to that, I was diagnosed with a different rare craniofacial syndrome, Pfeiffer Syndrome, and the incidence of that is 1 in 100,000. I think I’ll stick to the Jackson-Weiss Syndrome. It’s kinda cool to say that I am 1 of 5, not 1 in 5.
The syndrome has caused a whole heck of a lot of issues. I have multi-suture craniosynostosis, where the skull sutures fused prematurely, resulting in the need of several expansions of my skull. I also have hydrocephalus, or fluid on the brain, resulting in the need of a permanent VP shunt, in order to remove the fluid from the brain. As well, I have chiari malformation, meaning that my cerebellum, the part of the brain that regulates moving, walking, breathing, heart rate, temperature, and so much more, extends too far into my spinal column, resulting in a blockage in the flow of spinal fluid. Some of my other diagnoses, which are & are not related to the underlying syndrome (depending on the diagnosis) are mid face hypoplasia, syringomyelia, moderate autonomic dysfunction, tachycardia (with possible POTS), patent foramen ovale, amblyopia (which, after 19 years, is finally starting to resolve itself), nystagmus, strabismus, astigmatism, chronic ear infections, chronic sinusitis, hearing loss, vision loss, hip dysplasia, elbow dysplasia, fused ankles, fused wrists, GERD, and I could go on & on. I’ve had 31 surgeries and counting, and get all my care at Boston Children’s Hospital.
Enough about the medical stuff, let’s get back to my journey with Genzyme & the RFRD team…
So obviously I took the chance and decided to join the RFRD team. I was very, very skeptical about it. However, when Phil called me that evening, and talked to me for over an hour, I started to ease up. He promised me that he would find a great runner for me, and that this team would be different from the other team that I joined. I clearly remember him saying that this team takes a more of family approach. I think at the time I was thinking he was trying to be a salesman, but I told myself that I said yes once, and I would not go against my word. So I jumped in and joined.
On January 25, 2014, I got my runner: Marissa. Still skeptical, I decided to just give her a chance. I mean what could it hurt? If the worst comes to the worst, I would do it for one year, and then just forget about the experience. That’s what I did with the other team.
At the very beginning, I was almost letting myself get in the way. When I first met Marissa, we went to Dunkin Donuts. I gave her a fair chance, and we seemed to click. I still wasn’t convinced, but we definitely did click. I took my mom with me (again, still being skeptical) that time. We went to Staples (mom & I) afterwards, which was right near Dunks, and on the walk there, I asked mom what she thought. “I like her. A lot.” “I do too!” Marissa & I started FaceBook’ing each other all the time. It became a way to communicate, and a way for us to try and determine what is the right amount of communication that we needed. It didn’t take long before Marissa & I would be messaging at least once a day. Those messages meant the world to me, and I still keep them close to my heart.
A few months later, Marissa, her kids, Phil & his wife, and my mom and I met up for ice cream. I cannot say enough about that experience. The adults (including me) all talked and ate ice cream, while the kids ran around and ate ice cream. None of us were awkward, and we all just hit it off. It was truly like one big happy family. And it felt so good to know that these were people that would truly be in my life forever.
Unfortunately, on Marathon Monday 2014, I was in North Conway. However, I tracked Marissa & Phil online. My mom got annoyed with me because I just had to track them both. It was a necessity. And also because I whined and complained when I found out that she left my marathon shirt AT HOME! WHAT?! Seriously?? And it didn’t help that we were 100+ miles away from home when I figured this out. Not. thrilled!
Our relationship continued & continues to this day. Marissa and I talk at least once a week, and see each other when both of our schedules permit. She’s someone that I know will be there for me no matter what, and someone that I can call a friend. Not just my runner, but my friend. And she spoils me rotten. Yes, I have come home from school or a doctors appointment & had Georgetown Cupcakes waiting at my front door. And she did have flowers delivered to my home on my last day of high school, in honor of my graduation, which I actually used to make a homemade corsage. I know it’s not the material things that matter, but our relationship grew so close emotionally, that it got to that point. As well, Phil & his wife came to my high school graduation. That day was so special, and it was a day that I thought would never come. Having to have missed my junior year of high school made high school an overall struggle. Having Phil and his wife at my graduation was so meaningful to me. It felt good to know that I had people that I absolutely love with me on that special day.
Just recently, there was a post on the blog asking for patient partners because the team had grown insurmountably. Of course I jumped at the chance to do this again. There was no skepticism this year, and I needed to do this for myself. I’ve had a rough nearly 8 months medically and I needed to do something for myself. Joining the RFRD team has been just that: something to do for myself. I knew that getting to be a part of this experience would reenergize me, and keep me “going”, and it would serve as a way to just “check out” of life, and get to enjoy spending time with people who don’t, necessarily, necessarily deal with everything that I deal with it.
Phil emailed me about the kickoff meeting back in November. I was so not thrilled that it would be after a full day of classes, but I felt like I just had to do it. I knew it was something that I would not regret, and it was something that I honestly did for myself.
December 3, 2014, after a full day of classes, along with bio lab, a chemistry review, and more studying to chem, I took the trek to Waltham for the kickoff meeting. Marissa picked me up from UMB, and I got to meet a new patient partner, that Marissa picked up also at UMB. Gail lives less than 5 mins from me. It’s such a blessing that I have her. At the party, I met so many new people, and got to see Phil again. For some reason, I was assuming that not everyone would be so kind. And yet I was wrong. Every single person that I met was so kind and so real. There wasn’t a drop of “fake” anywhere in that room. I clicked with some more than I did with others, but I can truly say that I absolutely love every person that I met. And I could see the “family” atmosphere there. I could see that everyone loves everyone else, and that everyone is close with everyone else. They all welcomed me and were interested in hearing my story. I wasn’t very forth-coming at the time, but that’s so not like me. I’m gonna blame the exhaustion for that one. And yet no one was upset that I wasn’t extremely forth-coming. Honestly, it was an incredible night.
A few weeks later, I got an email from Phil. He was asking if it was okay if he split Marissa & I up. I was totally okay with it. After all, Marissa & I are still as close as ever. I felt bad replying to his email without talking to Marissa, but after talking to her, she felt the exact same way as I did.
A few weeks after that, I got my new runner: Mary Beth. I was very, very confident this year. I knew things would go well. There was not a doubt in my mind. And I was right. MB & I met in person within a week of being matched. We went out for lunch. It was a ton of fun. And then within a couple of weeks, I got to meet her girls. What fun those two are! Actually, those 3! I know we are so gonna get ourselves into some trouble. Mary Beth: CORNER!!!!!
The one thing that I love about Mary Beth is the fact that she is always willing to be the proverbial punching bag for me. She’s always willing to be there to listen to me complain & vent about the medical life. With everything going on right now, it’s hard to have no one. With Mary Beth, I know that I have someone that will listen to me, and someone that truly cares. As I said to her today, “I think I might only be happy/calm when I’m with you.” I email with her oldest all the time, and we hang out at least 1-2 times a month. Getting that short break from reality helps me maintain my sanity. I am forever grateful to this partnership, and for knowing that I now have a second runner that I will be friends with forever.
The RFRD team has truly changed my life, for the better. They’ve become another family to me. They’ve become people who I can know & trust. I know that they will never share anything that I share with them, and I know that I have people that I will love for the rest of my life. I am forever grateful for opening that email a year ago, and for taking the jump to join this amazing team. Phil was absolutely right in that this is not a team, it is a family.
To the whole team, I just want to say thank you. Thank you for being there. Thank you for being so kind. Thank you for being so helpful. Thank you for being such incredible people. Thank you for being the proverbial punching bags, and for allowing me to get some of my frustration out on you, and knowing that it’s only because the medical life is so hard. I love you guys so very much. You are all amazing, and I will see you soon.
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