I don’t have a disease, “my bones just don’t like meâ€â€¦.. In a recent meeting with my patient partner Natali, this is how she described her condition and is a testament to her sense of humor and the positive spirit that Natali embodies.
Natali was diagnosed soon after birth with Pfeiffer syndrome, a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and toes. Most affected individuals also have an abnormal midface, with protruding eyes and conductive hearing loss.
Pfeiffer syndrome is now known to be a member of a group of conditions caused by mutations in the FGFR genes.
Natali had a genetic test performed when she was 14 and was actually discovered not to have Pfeiffer syndrome but a closely related disorder, Jackson-Weiss Syndrome. Jackson-Weiss is very similar in presentation to Pfeiffer but with no abnormality of the hands. Natali is only one of two living people in the world with Jackson-Weiss syndrome.
Natali has been a regular visitor to Boston Childrens Hospital since birth and has gone through no less than 31 surgeries including some incredibly complicated and lengthy procedures such as a cranial vault remodel and mid-face extraction. As a result of one of the procedures, Natali also suffered a stroke and is still to regain full function from prior to her surgery.
Natali and her Mum Svetlana
Her Mum Svetlana, originally from Russia is an extremely loving and caring individual and tower of strength. Her words are that they do not live day by day but hour by hour when it comes to Natali as at any time they need to be prepared to race to the ER or BCH. Her resilience, strength and incredible love for her daughter were so evident when we met.
Now 18 years old and a Senior at High School, Natali has been accepted into a pre-med course at college. A self-proclaimed Facebook addict and big fan of ice-cream cake, Natali is passionate, articulate and always has other people’s needs in mind. She advocates for many other causes, despite her own medical challenges. Natali’s motto is to live life to the fullest no matter what and her attitude and achievements in life demonstrate this.
Natali celebrating her 18th Birthday
 I truly believe that people are brought together in life for a reason and I know I will have Natali and the other incredible members of the rare disease community I have met through this experience, in my heart and thoughts as I run those 26.2 miles.
Life is such a precious gift. Every moment should be treasured and finding a rare friend in Natali is something that I will have for life.
You can read more about Natali’s story on her blog:
For some reason Natali’s “boney” comment reminded me of the Funnybones children’s carton (http://www.youtube.com/watch?v=3hx52p-E3O0). I got a double chuckle remembering how as a small child I had explained Gaucher to my summer camp counselor by jokingly saying that she need not worry if I was trouble because she could easily break my bones (I don’t think she laughed and instead called my parents rather worried). This was more recently a bit less funny when for Valentine’s Day I received a hug that cracked a rib but no question, as Natali is testament, humor is always strong medicine. Marissa you’ve shared a mighty story and I’m happy to learn a little about Natali, her Mom and you too. Thanks!
Hey Emma,
I just wanted to say thank you for your comment 🙂 I am Natali, the one who Marissa is partnered with. I’m glad you liked my story. It’s funny, that bone comment originally came from my craniofacial surgeon. He had said that I’m perfectly healthy, besides my bones. And then, ever since, my mom said that my bones just don’t like me haha. It is true though. Oh well! It’s not stopping me 🙂
~Natali
Thanks for telling Natali’s story (and thanks Natali for being a part of the team!), the strength of both of you comes through the words very clearly.
Thank you for all of you for letting me be part of the team. It has been an amazing experience and Marissa and her family have become some of my closest friends. Love, love, love them!