I don’t have a disease, “my bones just don’t like me”….. 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.
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.
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: