This is our third year in Newport Beach, CA for the CRF Cystinosis Family Conference and Natalie’s Wish gala. It’s always so nice to see my cystinosis family and to spend time with others who know what day-to-day life is like for us! We learned a ton at the conference, and are so excited and hopeful about the progress made on the cure and eye treatments. There are a couple of really cool things on the horizon! Thanks always to Nancy, Jeff, Natalie and Alex Stack for their love, support and perseverance! We are forever indebted to the CRF!
What a day! On April 13th (my Mommy and Daddy’s 5th wedding anniversary!), Daddy, Hans, Ian, Mike and Ralph went fishing to raise funds for my fundraiser! I’m so proud of my Daddy and his friends. They caught fish and raised over $25,000 for me and my friends! All of this money goes to the CRF, which use 100% of donations to find a cure and better treatments for me! I am so grateful that Daddy and Mommy and I have such amazing friends and family who help fight this battle with us. Thanks to everyone who donated.
While in Washington DC for Rare Disease Week we got the chance to meet Kyle Bryant and his friends from the Friedreich’s Ataxia Research Alliance (FARA). Like cystinosis Friedreich’s Ataxia (FA) is a rare and incurable disease. Kyle and his friend Sean Baumstark did the Ride Across America bike ride to raise funds and awareness for FA, all of which was documented in their amazing movie The Ataxian. If you haven’t seen it, I totally recommend it! Also, the cool thing is that Dr. Cherqui, the brilliant researcher working on the cure for cystinosis, has been able to use the same technique in her stem cell studies for both cystinosis and FA! This is just another example of how donations to CRF benefit other diseases, both rare and common!
Mommy, Daddy and I went to Washington DC with other people from the Cystinosis Research Network for Rare Disease Week. While there we were able to meet many people who are fighting different rare diseases, but who are also going through many of the same challenges that I have with cystinosis. We were able to meet with representatives from Cory Booker, Robert Menendez, and Donald Norcross’s offices as well as sit down with South Jersey’s own Frank LoBiondo. Mr. LoBiondo has always supported funding for NIH and many other causes important to people like me with a rare disease. He was a super cool guy and I gave him a big high five! (He even showed me a video of his puppies!)
The NIH has been a real champion of cystinosis; they were instrumental in the development of cysteamine. Cysteamine is the drug I take to slow the progression of cystinosis. The NIH is conducting a long term study of cystinosis and I was happy to be a part of it. Mommy and Daddy ran me about the building to see a lot of doctors who looked at my eyes, bones, teeth and kidneys. All things considered, the doctors thought I was doing great and told me to keep up the good work taking all my medicine.
For the second year in a row, Mommy helped plan the Nemours Family Cystinosis Conference with my doctor JJ and my friend Chandler’s dad, Clint. This year was even bigger than last year, and we had 16 families from all over the east coast attend the event, with a total of over 70 people in attendance! I met new friends (two who are my age!) and had so much fun with all of my cystinosis family. Then, after the event we went to Chandler’s Chance Christmaspalooza, a Cystinosis Research Network fundraiser at Chandler’s house. Santa Claus was there and I got to dance to some pretty cool music! I can’t wait to see how big next year’s event is!
The 2017 fundraiser was a great success, daddy and his friends fished from sunrise to sunset (and a bit of time before and after!) and braved the miserable, cold and windy elements. They were sore and freezing at the end, but the anglers fished their hearts out and caught an overall amazing count of 172 fish! While the fishing wasn’t as fruitful as last year, as a result of their perseverance the anglers were still able to raise an impressive amount of money for me and my friends in the cystinosis community.
In April we traveled out to California for our second CRF Day of Hope and we were able to see many of our friends in the cystinosis community. Mommy and Daddy were especially happy to see some of the other parents, especially the ones that listened to them and gave them advice a year ago when I was first diagnosed with cystinosis. We were able to present a huge check to CRF during the Natalie’s Wish Gala which represented all the donations from our friends and family. During the auction the generous attendees at the event enabled CRF to raise another $3.6 million, all of which will fund research to help cure me and my friends! Mommy and Daddy were also able to listen to presentations about all the progress that was made over the past year. Daddy was especially happy to learn that so much progress has been made over just the last year.
If you have ever googled cystinosis to learn about my disease, you've probably learned about Dr. Paul Grimm, one of the leading nephrologists specializing in cystinosis. We had the pleasure of meeting him in December at the 2nd Annual Nemours Cystinosis Family Conference, and again at his cystinosis clinic in February at the Lucille Packard Children's Hospital at Stanford University. That's right folks, I got to make a trip to sunny California, and it was amazing!
Every couple of months Dr. Grimm has cystinosis clinics, and sees patients from all over the country and beyond. He has seen over 80 patients with cystinosis, and is definitely one of the leading experts in my ultra-rare disease. I have been doing very well on my medicine, but Mommy and Daddy felt that if anyone could answer their questions and confirm that my current medicine regimen is sufficient, it would be Dr. Grimm. Dr. Grimm spent a lot of time talking to us about everything from my water intake to my current medicine dosing - when, how and why. In fact, Mommy and Daddy wouldn’t shut up with all the questions, they really grilled him. We are so grateful to have Dr. Grimm accessible and committed to our community, and it was a perfect way to spend Valentine’s Day. Dr. Grimm is definitely my Valentine!!
I also got to meet other kids with cystinosis, and we got to spend time with an amazing mother and son from California who we adore and admire. It always makes me feel happy to meet others like me, and to know the Mommy, Daddy and I are not alone in our fight for better treatments and a cure for cystinosis.
Mommy always says I have the happiest outlook on life, mixed with a little sassiness, which is exactly what I need to handle tough cystinosis situations. This positive outlook is definitely helping me with my growth hormones, which I just started about a month ago. Mommy and Daddy give me a shot of growth hormones every night before bed to help me grow and, potentially, increase my appetite. Another benefit of growth hormones that researchers are looking into is the potential positive effects growth hormones can have on my muscles and most importantly in the prevention of muscle wasting which I will have to handle in the future. As you can tell from my picture, I love Doc McStuffins, so I always sing the Doc McStuffins song about shots just "tickling" a little, and although it pinches I bounce right back and keep on keeping on. I really am Mommy and Daddy's hero!
Mommy worked so hard to help my Doc, JJ, and our friend Clinton Moore with the 2nd Annual Nemours Cystinosis Family conference. The event, which was held in Sussex County, Delaware, was a huge success! Dr. Paul Grimm, one of the leading experts in Cystinosis, was the guest speaker, and we had ten cystinosis families from all over attend the event! It was such a positive and inspiring event, and it made me feel so good to spend time with my other friends with cystinosis. I know Mommy and Daddy learned a lot and had fun with my friends' parents as well.
After the event, we all attended the Moore family's annual fundraiser, Chandler's Chance, which raises money for the Cystinosis Research Network. It was an amazing and successful event - I got to take a ride in a first truck, listen to a live band, see Santa Claus and spend time with some amazing people!
Mommy was honored when asked to help plan the event, and really enjoyed every aspect from planning to setup. She and Clinton are going to team up again next year to plan an even bigger and better event! We are also so grateful to have Nemours DuPont Children's Hospital and, more specifically, JJ (Dr. Joshua Zaritsky), my nephrologist, spearhead these cystinosis events. We love him, and all of the staff at the hospital who've been so loving and amazing this past year - Nemours is the best!
It's been a tough couple of months for Mommy and Daddy as they've struggled to make the decision whether or not to get a g-tube for me. A g-tube is a feeding tube in my belly that can be used for blended foods and liquids as well as medicine administration. In the end, Mommy and Daddy reluctantly decided to go ahead with the surgery because my growth has just been too slow. Mommy tells me it will make me big and strong. Daddy tells me that I won't have to taste my yucky medicine anymore! I trust them and my doctor, JJ, so I know they're making the right decision.
I have great doctors and the g-tube surgery went great and I've healed perfectly! Mommy and Daddy are happy and I like not having to taste my yucky medicine anymore. Mommy makes healthy blends to feed me through my tube, and medicine time is much easier than before. I’ve started to like my extra “button” and hopefully I will start to gain weight and height soon!
What a wonderful trip Mommy, Daddy and I took this summer! We spent a long weekend in Woodstock, NY with my BFF Charlotte and her mommy and daddy, Megan and Michael. Charlotte has cystinosis just like me and is only a few weeks younger than me. We are so lucky to have each other to take this journey together. We learned so much from each other in those few days, and our parents bonded and understood each other in a way that only other parents of kids like me can understand. We will have each other to call, vent, laugh and cry to. Even though we live several hours apart (that's what happens with a rare disease!) we will get to see each other every year at the CRF's Day of Hope and at our annual family vacation. Love you Charlotte!
Daddy and his friends decided to have a small cystinosis fundraiser this past weekend; they went fishing (something they love to do!), and our friends and family donated money for every fish they caught! After over 12 hours of fishing, Daddy and his friends caught 335 fish to raise funds for me and my friends; I am so proud of them!
Mommy and I anxiously waited to hear how their day was going; while the morning went well, the afternoon was a bit slower, and we were all worried that the fundraiser wouldn't be as successful as we'd hoped, as most of the pledges made were based on how many fish the guys caught! But Daddy, Uncle Ian, Hans (Brooke-Trout Man) and my biggest supporter Ralph fished and fished, and fished some more, and really came through for me!
I just want Daddy and his friends to know how much I love them for helping me out. I also want everyone who donated to know how much it means to me, Mommy and Daddy to have their support and love. We will beat this disease because people like you are helping us along the way! I can't wait until our next fundraiser!
My parents and I had the opportunity to attend the 2016 CRF Day of Hope conference and Natalie's Wish gala. I had so much fun meeting all of the other kids and adults who also have cystinosis, and we learned so much. Mommy, Daddy, and I were able to present Nancy and Jeff Stack, the founders of the CRF, with over $3,000 to be used to find a cure for my disease... We raised this money in just under 2 months, thanks to Mommy and Daddy's friends and family who took it upon themselves to help me out!! We love our friends and family so much for doing this for me, and we also love all of our new friends that we met at the conference. We have a lot of hope that my disease will be cured in my lifetime, and we have also made friends for life because of this diagnosis.... We look forward to continuing to raise money for the CURE!
Last night I attended my first ever black tie affair, hosted by the Cystinosis Foundation of New Jersey. Mommy, Daddy and I got all dressed up, and I got to meet the other cystinosis families in my home state. It was so much fun!
The gala was filled with food, fun, music, and good people. Everyone there was supporting kids and young adults like me. The Foundation did a wonderful job planning this event, and has raised over $500,000 in their 32 years of existence!
I had so much fun with all of my new friends, and I felt like the belle of the ball. I showed everyone my funky dance moves, and I charmed the pants off of the guests. I can't wait to go again next year!
Thanks so much to the Foundation for having me as their "littlest" guest!
This month, I started cysteamine, the special medicine that Mommy and Daddy give me every six hours. They even have to wake me up in the middle of the night to take it! The medicine tastes and smells really yucky, but Mommy tells me it's really good for me, so I take it in stride. Mommy calls me her "little trooper".
While I still have to take a bunch of other medicine throughout the day, this new medicine is saving my life, and without it, my kidneys will get really bad, and so will the other parts of my body. While the cysteamine won't fix me, it will slow the progress of my disease, and help me live a better life. Daddy told me I can't miss even one dose!
Mommy and Daddy have made really good friends since my diagnosis, with parents of other kids just like me. They all tell Mommy and Daddy that it will get easier, and it already has. I am doing really well on my medicine, I'm getting used to the taste and sometimes don't even need to wash the taste out of my mouth with juice! Mommy and Daddy feel connected to the other cystinosis families, and have been able to lean on them for support and advice, which has made all the difference. And I'm super excited to meet all my new friends who are just like me!
All the donations you make to me through this website or at one of the fundraisers Mommy and Daddy are organizing, go directly to the Cystinosis Research Foundation (CRF). CRF is the wonderful organization that donates all funds to research my disease. This research is close to finding better medicine for me. Even more exciting is that CRF scientists are close to finding a CURE for me!! That's right, I might not have to take the medicine at all in the future. That's why it's so important for you all to support me and all our new friends by making a donation. Every dollar puts me one step closer to being a healthy kiddo with no more medicine needs - YEAH!
When I go out with Mommy and Daddy, everyone always comments on how cute and small I am. At first, this made Mommy and Daddy sad because while I look healthy on the outside, they knew something was wrong on the inside. But instead of feeling sad, they want to create awareness about cystinosis, so Daddy made me my very own business cards. Now whenever anyone comments on my size, Mommy and Daddy hand them a business card and speak to them about my condition.
Thanks for visiting my website. Mommy and Daddy's friends started my site for them so they could focus on getting me started on my medicine as we begin our journey with Cystinosis. Mommy, Daddy, and I love my site and are so thankful to our friends! And, I am looking forward to keeping you all updated on my progress.