A Weekend to Remember...

We did it! Jimmy, Landon and I attended our first Cystinosis conference sponsored by the Cystinosis Research Foundation (CRF) this weekend. We left Thursday morning for Newport Beach, CA and returned home Sunday evening. Jordan stayed home with "Maw Maw (Grandma)" which was difficult for this mama but it was a good decision. It would have been much too hard on him. Where do I even begin? I could never include everything on this blog that happened and describe every emotion we experienced. It truly is a family and I have to tell you that to see a bunch of kids with Cystinosis run around just totally warms your heart. It was the cutest, sweetest group of kids ever! I know I am biased but I can't tell you how many times Jimmy and I looked at each other and said, "she is just too cute!" And the older kids take such good care of the little ones. The first time we left Landon with the sitters, he was very excited about the toys but afterwards was not happy when we tried to drop him off. One little guy took Landon under his wing and asked the balloon guy to make Landon a monkey and brought it to him. The Stacks (founders of the CRF) are incredible, incredible people. They are kind. They are knowledgeable. They are resourceful. They pour their whole heart and soul into finding a cure and we are so thankful for their support. I have mentioned this before, but Nancy Stack was the first person we spoke with after Landon was diagnosed. We did a google search, found the Natalie's Wish website and sent an e-mail. She responded to us so quickly and got us through the most difficult time in our lives. We so badly wanted to meet her and the people that work with her. And of course, such a special family has only the most wonderful people working with them to run the organization. We got the bigggest and most genuine smiles and hugs from Stacy and Zoe who are Nancy's right hand ladies! I think Landon may have had a bit of a crush on Stacy. He charmed his way into getting several lanyards that were being used for the name tags. =0) Our first conference day began with the families taking turns speaking in front of the group about our hope and inspiration. There were lots of smiles, tears, applause, hugs... Following this, the first day included a lot of background and information about Cystinosis. There was a ton of useful information. The second day was focused a lot on the research that is being done. We got to meet Dr. Cherqui which is a researcher that we have read lots about since Landon was diagnosed. She is in search for a cure! I blogged quite some time ago about the first stem cell clinical trial that they are recruiting for. It's not a study that Landon can participate in. They are looking for adults 18 and over with Cystinosis or anyone 13 years and older who cannot tolerate Cystagon. They are taking stem cells from a healthy sibiling (of the person with Cystinosis). It is very difficult to find a match (not just any person with Cystinosis with a healthy sibling is the perfect match that they need). No one has been recruited yet and they really don't know if anyone will be able to participate at all... The big study that was discussed is 3-4 years away from a clinical trial, at best. This is if there are no adverse events (complications in research). It will be a bone marrow stem cell transplant which will involve using the patient's own stem cells and genetically modifying them and then reintroducing in the patient. This has been successful in mice and Dr. Cherqui reported that this has been successful with other diseases. It would involve a round of chemotherapy. Another study that was discussed focuses on corneal cystinosis (crystals in the eyes). Landon does not yet present with crystals in his eyes but we know that it is coming. He actually is due to visit the opthamologist very soon. Those who have crystals are instructed to put eye drops in their eyes every waking hour of the day. Compliance is certainly an issue. Researchers have developed a wafer that has tiny cysteamine molecules that will slowly diffuse in the eye. Landon could put this wafer in his eye once a day, week, month etc.. depending on what they are able to do.. Regardless of how often, it is much better than putting drops in his eyes every hour! They are predicting that this will be ready for clinical trial (meaning that they will be recruiting participants) in 1-1 1/2 years. And, in other good news the 12 hour drug (to replace the Cystagon that we are giving Landon every 6 hours, including in the middle of the night) may be approved by April 30th. Ahh! So close! I was told by Landon's nephrologist that it shouldn't take long to become available to Children's Hospital in Pittsburgh because they have one of the larger numbers of patients with Cystinosis in the country. Ah! I'm excited! There was some discussion that you could only take it if you can swallow a pill, but thanks to my buddies in the Cystinosis community, I know that several kiddos with a G tube take it by mixing it with applesauce so that it doesn't clog the tube. A couple of friends of ours spent a month or so trying to figure out what to mix it with... Thank you! =0) Last but certainly not least, we were fortunate enough to have the opportunity to attend a fundraiser that the Stack's held while we were in CA. Words can't describe how incredible it was. The food was great, the room looked beautiful, people generously donated thousands of hundreds, thousands of dollars. Jimmy, Landon and I were asked to go in front of 450 people present at the event to present a check (one of those large checks) for the amount of money that we donated to the CRF last year which was over $19,000! We could not, by the way, have raised that money if it was not for our family and friends who help us to organize these fundraisers and who take the bull by the horns and organize their own! We have such generous people in our lives! A friend of mine, that I met through the Cystinosis community, told me this weekend that she can tell that we have a lot of support just based on the number of people who "like" and comment on my pictures and status updates on Facebook. We are so so blessed. So, thank you, thank you, thank you!