Rare Disease Day: My Rare Journey

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In recognition of Rare Disease Day 2023, the Adult Leadership Advisory Board compiled thoughts from a few cystinosis warriors. Their goal: to highlight how “living rare” can be challenging but having a supportive community helps. Thank you to Serena, Emily and Tyler for your insights. 

Serena Scott 

Hi my name is Serena. I was born in 1982. Aged 16 months I got rushed to hospital and it took 2 months to diagnose that I had Cystinosis. I lived in a little country town in rural Western Australia.  Aged 7 both my kidneys failed and my mum donated one of her kidneys to me when I was 8. 

Life plodded on until I was 18 when we found the Cystinosis Foundation USA. They encouraged our family to set up the Australian Cystinosis support group and it was at this stage I met others with Cystinosis. It was pretty hard growing up never being able to connect with anyone else that understood. We got to attend lots of international conferences throughout Europe. (Paris, Manchester, Ireland , Italy ) it was so great to finally meet lots of adults and little families with Cystinosis. I decided to start a Facebook group just for adults so we could all chat freely about issues we had. I am now 41 years old ( not bad considering mum and dad were told I would not live through childhood! )

My transplant from mum lasted 28 and a half years. I have now been on dialysis for 4 and a half years . Then on a run up for a second transplant from my sister we found I was in heart failure at 10% function.  This improved somewhat with medication but means I can’t have another kidney transplant. 

Because of swallowing issues I ended up with a nasogastric tube and now have a PEG and then I got hit with lung failure so need a bipap machine at night to sleep.

I would encourage all families to get to the conferences. It made a huge difference to me.

[For more information on the 2023 CRN Conference, click here.]

Emily Mello 

Hi, I am Emily Mello born in Brazil! My family and I moved to America in 1992 after two years of my diagnoses of nephropathic cystinosis so that we can have better access to medical treatments for me.

I grew up in Naugatuck, CT. Up until few years ago I was believed to be the only one in CT with cystinosis. Growing up rare in a small town I would always need to explain what is cystinosis. I had my first transplant at 10 and then another at 24. 

I’ve always done what I put my mind to, dragging cystinosis along with me to adventures around the world, being part of a band, marriage, divorce and becoming a mother. I have a son who is 14 right now and still my bundle of joy .

I have a love for people in general but my cystinosis family means so much to me and if my story can bring hope or inspiration or even just a laugh to just one person, then I’m happy. 

Tyler Joynt

Greetings, I’m Tyler Joynt I’m 34 years old and I currently reside in the large mediocre city of Jacksonville, Florida. At the age of two, I was diagnosed with nephropathic cystinosis, which has certainly presented its share of challenges, but I’ve never let it get me down!

Growing up in Birmingham, Alabama, I was fortunate enough to be under the exceptional care of Dr. Mark Benfield from a very young age. My first renal transplant was at age 18, and while I unfortunately had to endure dialysis from 2013 to 2017, I received my current transplant in 2017 and have been thriving ever since!

I’ve been participating in studies and trials for cystinosis since I can remember. It just always felt like the right thing to do – not only for myself but for others as well. Plus, the free trips didn’t hurt either! Patient advocacy and sharing accurate information within the community are passions of mine, and I’m always eager to further these initiatives.

In November of 2021, I was the fourth patient to undergo a stem cell transplant as part of a trial for a possible cure, and it has been absolutely life-changing not being on cysteamine anymore. I’m extremely optimistic about the ongoing research into cystinosis and excited about the potential breakthroughs that lie ahead.

Despite my health challenges, I’ve always strived for a sense of normalcy in my life. I’m happily married to my wonderful wife of eight years and blessed with two amazing children and two furry pups. I’ve been able to pursue higher education, work in the “real world,” and even start my own business. Nowadays, I’m a “work at home dad” while my wife is out there bringing in new lives as an OBGYN!