To the 10-Year-Old Who Shares My Rare Diagnosis

To Giovanni, the 10-year-old boy with the same syndrome as me,

I have read that you and I share the same diagnosis, Schwartz Jampel syndrome (SJS), but a different type. My syndrome is known as Schwartz Jampel syndrome type II/Stuve-Wiedemann syndrome. Type I and II were identified early on. As of now, type II and Stuve-Wiedemann syndrome are known to be the same. The moral  I would like for you to take from this, is that everything will be OK.

I am currently 27 years old. Until I did my own research about one year ago, I was informed by my geneticist that I am the oldest to have ever been documented with our syndrome; the second oldest being my sister of exactly two years and five days younger than me. You see, I went completely undiagnosed until I was 19 years old. It wasn’t until my younger sister went to a geneticist when she was 17, that we had a potential diagnosis. We finally got were tested and formally diagnosed when I was 21 years old. I will tell you, that was one of the best days of my life.

I want to tell you that because we (myself, my sister, you, along with others) have defied the odds. I understand the fight you have to endure on a daily basis. Most with our syndrome pass at an early age (infancy) from hyperthermia or respiratory failure. I am here to tell you that no, it doesn’t get easier with age.

I have had numerous orthopedic issues along with dry eyes, and everything else. To this day, my most scary encounters include a strep infection in the bone (my leg) along with respiratory failure. Both came so suddenly; my body could not keep up. It was my 17th birthday when I was admitted to the hospital with a bone infection, which shut down my entire body. I underwent numerous blood transfusions, as well as a fusion of my leg after discussing an amputation.

When I was just 20 years old, a kidney infection went septic within 12 hours. I was on life support for eight days. To me, it is as if those days never happened. But I have seen photos of what my family saw from those scary times. Since my respiratory failure incident in 2010, I have never been the same, but I am so grateful to be here today, even though I cannot make it through a full day without a nap.

My intent in writing this message is to tell you that things don’t necessarily get any better. You will continue to go through many battles with your body. Please know that you are not alone. I too, along with so many, live in constant pain. We may not go through the exact same things, but I know how you feel when you want to give up. I have been through so many surgeries in my life, that I have lost count.

Please work your hardest to have a positive attitude and a sense of humor through your endeavors. That is the only thing getting me through mine.

I have just returned from an out-of-state appointment, where doctors have again told me they don’t know what to do. While I have been told this numerous times in my past, it is still one of the most difficult things to hear. I am now trying to come to terms that once again, I cannot be helped.

When I was diagnosed in 2009, I was told that I was the oldest in the world to ever live with the syndrome. I have since done my research and found an individual about eight years older who also has the syndrome.

Don’t ever give up, and know that you are not alone.

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