I decided to finally dust off the old keyboard and share with you the amazing weekend we just enjoyed.
Ben, Stella, Hadley and I traveled to Newport Beach, California for our third Cystinosis Research Foundation Day of Hope family conference. We first attended in 2011, a mere two weeks after Hadley’s diagnosis. Last year we attended with both sets of parents and Ben’s brother Scott, and his girlfriend, Amber.
It seems each year continues to get better and better! There were around 40 families in attendance this year and a TON of kids. It was awesome! Many were families with newly diagnosed kids or who had never attended a conference before. While I wish no new children were diagnosed, it’s always nice to meet the families. And of course we love seeing the familiar faces we’ve met at the previous conferences and keep in touch with throughout the year. Our community is small but the support is larger than life!
We arrived Thursday afternoon and spent the evening enjoying a Mexican fiesta while letting the kids interact and forge new friendships. The welcome dinner is always a great way to break the ice and ease into the emotionally charged weekend.
Friday morning we enjoyed breakfast outside before getting the kids settled into the fantastic childcare provided by the CRF. I can’t say enough good things about Destination Sitters. I never worry about the girls because I know they are having such an amazing time! It helps that they run off to play with their friends without even needing to say goodbye to me and Ben.
The conference was kicked off by each family introducing themselves and sharing their hopes, dreams and wishes surrounding cystinosis. This year we presented our thoughts on colorful flowers that were then placed on a “family” tree along with a picture of each child affected by cystinosis. When I asked Hadley what her wish is for herself, she replied, “a princess”. Of course! Stella wished love for Hadley. She is such a wonderful big sister and so supportive of Hadley! They are so innocent and unaware of what cystinosis really is and for that I am thankful. When I asked Hadley if she knows why she takes medicine and what her disease is called she proudly said, “cystinosis conference”. Her only association with cystinosis is the conference and I couldn’t help but laugh. I don’t think she even realizes she’s sick.
The sessions with the doctors and researchers began after the family introductions. All of them were exciting and inspiring! For an orphan disease affecting only 2,000 world-wide, so much progress is being made. Treatments are improving which in turn means the quality of life is also improving for all of those living with cystinosis. Most exciting was the announcement that Ghanashyam Acharya from Baylor School of Medicine has engineered a transdermal patch (similar to a nicotine patch) that would slowly release cysteamine throughout the body ridding the cells of the build-up of cystine crystals. This method of delivering medication would take away the need for both Cystagon and Procysbi. This would provide a huge improvement in the quality of life for those who take the pill form. There would be far fewer side effects and no smell. It will also help with compliance since the patch will only need to be changed three times a week. Ghanashyam was recently married and his lovely new wife also attended the conference. She spoke the last day and said that after attending the conference and meeting all the families, she will never give her husband a hard time for going to the lab to work at 2 am. Her sweet comments were received with laughter and a round of applause.
Ghanashyam is also collaborating with Dr. Jennifer Simpson on an improved delivery system for corneal cystinosis. Currently, the only treatment available are eye drops that must be administered every waking hour for best compliance. We haven’t started treating Hadley’s eyes yet because she is not tolerant of eye drops. The new system is called a nanowafer and is similar to a contact lens. The nanowafer would slowly release the drug throughout a week and would be such a life saver! Even more amazing is that a clinical trial is scheduled to occur within a year.
We also heard updates from Dr. Stephanie Cherqui regarding the progress made toward stem cell and gene therapy. Dr. Cherqui stated we are likely only 2-3 years out on a clinical trial for an autologous stem cell transplant. This means cells from the person affected with cystinosis would be removed from the body, genetically modified and then re-introduced back into the body. Bottom line…this would be the cure for cystinosis!!
We spent that evening celebrating with an Italian feast on the beach. Everyone was flying high from such an awesome first day! The kids were no exception. While we were in our sessions, the kids were being entertained by a lady who dazzled them with a bubble show, arts & crafts and most importantly, a visit from Cinderella and Spiderman! I had to sneak in and give Hadley meds and it just so happened to be when Cinderella was there. All the girls were gathered around her on the floor quietly waiting for their turn to get make-up applied by the princess herself. It was pretty dang cute even though Cinderella’s taste in make-up looked straight from the 80’s! Some were still sporting their glittery faces that night at dinner. My girls loved playing on the beach and even braved the cold water by wading in it a bit. They had so much fun playing with all the other kids, especially when it came time for the cotton candy booth to open. The cotton candy was served on sticks that lit up with different colors. You can only imagine the number of magic wands and swords that were being swung around on the beach that night!
After a great night of sleep, we were up and ready to go again on Saturday. We heard from other a few other doctors and the discussion I found most interesting was from Dr. Paul Grimm regarding kidney transplants. Dr. Grimm is a wealth of knowledge and has a fantastic sense of humor! While I hope today’s generation of kids with cystinosis can avoid a kidney transplant, it helps learning more about the process.
We also heard from a panel of teenagers and adults living with cystinosis. Because of improved treatments, individuals are living longer and longer with cystinosis. There are people living well into their 30’s, 40’s and beyond! In fact, we celebrated the 50th birthday of Mack Maxwell while we were at the conference! I always enjoy listening about cystinosis from the perspective of those who actually have the disease and are at an age where they can articulate what it’s really like. We are given the opportunity to ask questions and they are open and honest in their responses. I’m in awe of them all and love hearing about their adventures in life and how many have gone on to college, graduate school and onto exciting new careers. I want those things for both of my daughter, cystinosis aside!
After the panel finished we wrapped up the day by sharing the most difficult time we’ve experienced with cystinosis and then shared our silver lining. I was moved to tears several times and it made me realize how fortunate we are to be connected with such a phenomenal group of people. I can’t imagine riding out this journey by ourselves. It really helps to have others with you along the way. Even though we may all be at different stages on the journey, one thing remains the same…we love our kids more than anything in the world and we want them rid of this terrible disease!
When the session ended, one of my cystinosis mama friends presented Nancy Stack (CRF founder and our fearless leader) with a beautiful hand-made quilt which replicated the logo for the conference this year (the family tree). Each family provided Erin with scraps of fabric to be used to create the beautiful blooms on the tree. Thankfully my mom is a fabric hoarder and provided Erin with fabric for our family. Nancy was very touched and it will be a nice reminder of how much we love her and how thankful we are the CRF exists! Without her and her family none of this would be possible.
We spent the balance of the afternoon poolside with the girls and many of the families. For some reason I only packed a swimsuit for Hadley. Oops! So I did what any decent parent would do in the same situation; I let Stella swim in her skivvies! She kept telling everyone that her mom forgot her suit so she had to swim in her underwear. Yup…mom fail! I promised her I’d never forget it again. She didn’t seem to mind too badly and both girls enjoyed spending time in the pool with their friends.
After a couple of hours we headed back to the room to get ready for the Natalie’s Wish Celebration. It’s one of the most special nights of our year! It’s fun to get dressed up with Ben and go to a fancy dinner that is based around raising money and awareness for cystinosis. This year there were over 450 people in attendance! The theme was Night of a Thousand Stars and everything was flawless. We sat at a table with other cystinosis families and adults with cystinosis. We enjoyed a delicious three course meal and were entertained by the Tenors, a group of hot guys singers from Canada. The evening included a video about cystinosis and featured our family. It was an honor being included alongside other families and doctors. The entire night was memorable and an incredible 2.2 million dollars was raised for cystinosis research. In the past 11 years, the CRF has raised over 25 million dollars of which every penny will go to research.
It’s always hard to say goodbye to everyone after such an uplifting weekend. I’m already excited again for next year! We have started planning our own Hearts for Hadley fundraising event that will happen in September. I’m more determined now than ever to help do our part to raise money for the cure.
In My Life 
