Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Although medication is available to control some of the symptoms of this insidious disease, Cystinosis remains incurable.
Thursday, January 20, 2011
We continue to make amazing progress on the research front. We have just completed stage 3 clinical trials on a 12 hour dose and will be completing stage 4 in 2011. Our vision of a better quality of life for these patients is right around the corner and we owe all of you a huge debt of gratitude.
In addition, our gene therapy trials continue to show outstanding progress and we are looking to administer human testing within the year!
Our yearly event is coming up February 12th at Charlotte Country Club, we hope to see you there!
Wednesday, July 02, 2008
OK, so I don't know if earthquake was the right example but I'm pretty terrible with analogies...I wish I were better with those. Aren't you just drawn to people that can effectively do that...at any rate....I hope you all get to meet and know people like De and Denise---or as I affectionately refer to them as "the Quiet Storm"...
These two----out of the blue---basically walked up and said---"would you mind if we organized a golf tournament to help with Holt and Cystinosis research"?
To frame this a little better, De and Denise are best friends. De was Jack's soccer coach a year and a half ago and Denise has her own business and helps us around the house. We didn't really know either of them very well beyond a casual level but I suspect that from seeing Holt's room on a somewhat regular basis, Denise must have felt a calling and decided she was going to do something.
De coached Jack and had seen Holt at the soccer field when he was a very little baby but could not have known about his condition---De is one of those types that when you see her around kids you just say to yourself---" I hope this womans work has something to do with children" as it turns out----she's a first grade teacher.
So to be honest, Chrissy and I were a little nervous. They approached us about doing a golf tournament for Cystinosis research and I must say I was scared to death. Golf tournaments are incredibly complex and expensive to put on and the last thing in the world I want is for these two to be put in an awkward position. I told Denise, "sure, are you certain you want to do a golf tournament? I said, we just did the Hearts for Holt event and I'm not certain we would be able to get a lot of the same people for another event so soon"....her reply was perfect---"um, well we have a whole seperate list of people that we think we would be able to get"....touche! The tournament is slated for late July but based on the updates they have been giving it looks to be a smashing success.
In case you are interested, you can learn more by visiting the www.hopeforholt.com website. Once there, if you click on the "upcoming events" link you can view and download a brochure/form.
Along those lines---they contacted us a couple of months ago and also said--oh, we also want to do a change drive at the school. De came over and shot a video of Holt and played it on the morning announcements for a few days and asked the kids at her school to bring in their spare change which would then be donated to the Cystinosis Research Foundation. A couple of days later she upped the stakes and challenged my daughters school to see who could raise the most money.
All told this event raised over $5000.00!!!! Holt and I went to the school to say thanks and present the school a plaque. What an awesome twosome...thanks so much De and Denise.
Monday, April 21, 2008
If you really think about the process and how it works, it makes sense. The CRF empowers an independent scientific review board to study the research proposals and decide what get funded--and not everyone who proposes gets funded. The awards are based on the merits of the idea, its relevance, significance, et al. From a strategic perspective I can now see how they are thinking but I don't think that the individual researchers clearly understood what each of the other teams are doing. It makes sense to me now and after attending the event and I can see the importance and significance of the occassion. Mission accomplished! After two very long days of updates and dialogue---we left the event with an even greater feeling of hope for where we are going and the positive direction the CRF is taking towards meaningful progress.
All told we heard 26 different presentations all focused on cystinosis and let me tell you---these people are smart and speak an entirely different langauge than us. After each one, Danny Kelly and I would have to discuss what it was that we thought we had just heard just to write exec summary type of notes. Then we would corner the people who had presented to review what we thought we heard to confirm that we were at least in the ballpark. Many times we were and sometimes we weren't even close. But we got clarity on the ones we couldn't understand---I made sure of that. Danny probably thought I was crazy. What was really neat about it was that once it was over---if you pieced all of the summaries together they told a very logical story. The story starts a little rough but by the end, I was extremely enthusiastic with where this is giong.
Natalie Stack (Natalie's Wish) opened the event with a brief speech and we met the Partington family and their beautiful children Jenna and Patrick---both with Cystinosis. I see a future with The Partingtons, we seem to have a lot in common and similar ideas as to how to move forward. I probably was a little more reserved than normal---but to be honest I was such an emotional wreck during the event that I found myself clammed up. Here are the highlights from the presentations.
(Before you read this on day 1, know that day 2 was THE day that really woke the hope inside of me).
To summarize day 1, I think Danny and I would agree that the theme for the day seemed to be mostly centered on taking the "what we already know" to a higher level. How do we get better blood testing, how do we do better analysis, what have we learned from the data that is now more mature as it relates to CTNS (short for Cystinosis) patients capabilities, future risks, how do we give a better quality of life etc. All of this is fantastic work and very well intended. Quite honestly though---it was a little deflating. A lot deflating. I guess I dont really know what I expected to hear---yes I do---I guess it was more what I WANTED to hear and on the first day I didnt hear it. Not only did I not hear it but I was presented with data and findings which confirmed a lot of what we thought we already knew and how cruel and difficult Holts life will be. It's just so hard to swallow---Holt makes us so happy, he's so special to us---he has such a warm spirit and a "seize the day happiness" that its just hard to come to grips with how sick he is. It's really hard---I'm just not there yet, not even close.
-Dr. Trauner presented her findings on Mitochondrial Dysfunction in Cystinosis Myopathy. Essentially, it described many of the muscular wasting symptoms Holt will have as an adult and the correlation of those issues with medicinal compliance. Muscle wasting, problems swallowing, lack of hand strength, weakness in hip abduction etc. Interestingly, her studies did show that medicine compliance postively correltes with either improved strength or a much slower deterioration of the muscles. HGH (human growth hormone) will be an option but there will be a tradeoff---HGH will help Holt grow and will help his muscles develop but it will also speed up the need for a kidney transplant. Danny and I were able to have a hallway conversation with a leading pediatric nephrologist on topic---a very worthwhile discussion and at the end of the day it's going to be a very difficult decision for Chrissy and I to make.
-Dr. Gasnier is working to identify a different lysosomal transport mechanism for Cystinosis. To simplify what was an extremly difficult presentation to follow---your organs are made up of cells, inside those cells are lysosomes which contain cystine. Cystine needs to exit the cells but cannot in Cystinosis patients. It causes the cells to die which form the crystals which destroy his organs. This team is studying alternative exit paths which would allow this exit to happen for those with Cystinosis.
-Dr. Chiaverini presented on molecular mechanisms of Hypopigmentation in Cystinosis. Essentially, she is trying to understand why most Cystinosis patients are so light skinned and its relation/impact on other areas of the body---namely skin cancer. If she can draw the appropriate conclusions it could lead to treatments which would decrease his risk.
-Dr. Phillips is working to build a yeast model for Cystinosis. Yeast models have consistently proven to lead to optimized research methods and tools and this team out of Rochester, NY successfully built such a model for Battens disease. It just so happens that they have shown that the amino acid sequence for Battens is 31% identical and 47% similar to that of Cystinosin. If successful---it could lead to more effective medicines for Cystinosis patients.
-Dr. Kleta gave insights into adult lysosomal staorage disorder. Effectively, he gave the data which confirms what just isn't really easy to listen to when you know that its waiting for your child. It's all bad. Really bad. I'd rather not write about it.
-Dr. Ballantyne gave her findings on cognitive domain of Executive functioning in Cystinosis. This was a HUGE help as is gives us insight into the skills which are naturally lacking in those CTNS positive. It might not sound at first like a big deal but there are many subtleties which could be easily confused by teachers and attributed to willful behavior rather than cognitive impairment. This is groundbreaking as it will help us better understand the best type of education for Holt and how to work with him to help him be the best he can be. He will not only have the gross and fine motor skills issues which we knew about but also deficits in visualspatial and visual memory. He will lose his temper over seemingly little things and will lack impulse control---often acting before thinking. He will have trouble resuming after a disctraction, sustaining attention, organizing, planning and will make careless mistakes. He will know what to do, but wont do it and will lack function in initiation, goal setting, independent thought etc. Not easy to hear but incredibly helpful to us--as parents. Incredibly helpful.
-Dr. Fidler is researching different methods to store his blood for testing. Might not sound like much-- but to us its huge. I wont go into specifics, but suffice it to say that when we get his blood analyzed each quarter to review his baselines---its an extremely difficult process--one which requires excessive attention to detail--the type of detail that most labs dont use any more due to advances in testing machinery---which for CTNS patients are of little use. As a result, if a mistake is made---which it has been each quarter so far---he has to go back down to have blood drawn again which is painful and traumatic for him. In tandem to her research, the Dr's at UCSD are studying the mass spectrometric analysis of Cystine dynamics. I'm not able to speak too intelligently on Mass spectometry but I do know that if they are successful that they could completely uravel many of the confounding mysteries that the disease presents to reseachers today.
-The last presentation of the first day was that of Dr. Dohil. He gave his findings on the human trials of the 12 hour dose of Cystagon (the drug he currently gets every six hours). The patent for this drug was recently sold to Raptor Pharmaceutacles and could be ready in the next 3-4 years. Simply put, this would completely change his life....in a good way.
Day 2- THE day.
I have to be careful with some of what I write here---these presentations were based on progressive testing techniques---gene therapy, cell fusion, stem cell research, nano-technology. You hear a lot of these buzzwords and about the future of research---the conclusions seemed to be extremely positive. Extremely positive.
Sit down for this one----
-Stephanie Cherqui and the team at The Scripps Institute successfully cured a mouse with Cystinosis. Multiple mice with Cystinosis. This is a remarkable accomplishment for a few reasons. First- building a successful mouse model just doesn't happen very often. The process most often fails in research labs because to make it happen, you first have to find a virus which can successfully carry the disease and "drop it off" into the mouse---essentially, give the mouse the disease. They did that.
Once, the mouse has the disease you then can go to work. But what often complicates cure research are the number of variables and affected strands of DNA researchers are working with---the number of variables is often so high that what may work in one mouse doesn't work in others. With Cystinosis, it SEEMS that the number of variables is actually quite low----that's a big assumption so we can't get too excited yet. BUT what she did next is what really gave me chills. She was successfully able to give the mice a bone marrow stem cell transplant (BMSCT) which, when done, reduced the cystine levels to at or below levels of normal. Of course, I pretty much lost it at that point so I immediately cornered the Director after her presentation. I informed him that I was a parent and that I needed to better understand what I had just heard---if I heard correctly, you gave a BMSCT to a mouse and when you did the cystine essentially disappreared---you cured the mouse---is that what I heard?" He looked me straight in the eye and said---"now listen, I have to be extremely careful with what I say to you right now. As a scientist, I have to be ultra-conservative when speaking--espescially to a parent or donor as it would be cruel to give false hope and I would lose all credibility if I were somehow perceived to be influenced by a donor. Let me say this----I am extremely enthusiastic about what we have done---in fact---I think we can have this at clinical trial in the next 5-7 years".
Now what that means is that they still have to go back and perfect their mouse model and then it has to be tested on primates----IF successful it would then go to human trial. BIG IF. BIG IF. To think he could be cured---I just can't go there. It brings me to tears every time I think about it.
-Dr. Jester presented his findings on confocal microscopy. If you recall, without hourly eye drops to dissovle crystals in his eyes, Holt will go blind. Dr. Jester believes he can work with nano-technology which could allow Holt to only have to take the eye drops once a month. Think of it as slow release eye drops.
-Claire Hippert presented their findings on gene transfer studies the initial results seem to indicate that they have a proof of concept that gene transfer could correct (not cure, but correct) the defective lysosomal transport mechanism. If this could be developed fast enough it would essentially halt the progression of the disease. But her findings showed that it was age dependent so it would have to be done while he is young...but he's only 2.5
-Dr. Willenburg who quite honetly does not believe that the BMSCT process performed by scripps will work (he said he proved as such in his Doctorial thesis that bone marrow is not an effective conduit for stem cell transplantion) is working on stem cell research to cure the Fanconi syndrome affliction of the disease. Fanconi syndrome is what ultimately leads to kidney failure.
-Dr Wilmer successfully created stem cells which did not die. This one was so far over my head that I couldn't effectively write the summary---but it got resounding reaaction from the crowd and seemed to indicate that they could unravel the kidney dysfunction in CTNS patients.
There were another 4-5 studies focused on gene therapy, cell fusion and organ reproduction that were really interesting but incredibly complex to understand and even more difficult to write about. Quite frankly, I was so excited at this point and also so brain fatigued that it became harder and harder to concentrate. I just want to say this. The funds being raised by the CRF and the organization and focus they provide are like nothing I have ever seen. To have come so far in such a short amount of time is indescribable but apparent when you meet the Stacks and this team of people that they have organized to attack this insiduous disease. Will we ever find a cure? I don't know and don't want to get my hopes up too high. I do know though that Holt's life will get better than what it is today and that someday in the future other children with CTNS will have a much better life as a result of these efforts. Thank you so much for all of your support, we are so incredibly grateful that you take the time to read, to respond, to call, to write and to encourage us. Your actions matter to us, they make a difference--a real difference. We are truly and deeply appreciative and we have a renewed Hope for Holt.
Friday, February 29, 2008
I was in Texas when my younger brother called- his voice was serious, his tone seemed---humbled---if that describes a tone. He told me---you have some pretty awesome friends---last night about 30 of them got together---they want to do something for Holt. I called Phillips Bragg (one of the organizers)--he told me "all you have to do is say yes". He said, "people just want to help". I said yes.
I'm not certain how many times they got together as a group but I do know that there was at least a weekly meeting and several (many) very long days. In about 8 short weeks, Chris Barry, Danny Kelly, my kid brother Brandon, Katherine Davis and Phillips ultimately led the charge that produced the "Our Hearts for Holt" reception at the VanLandingham estate in Charlotte---approximately 250 people attended and raised well over $75,000---all of which will go directly to The Cystinosis Research Foundation. CRF has their own Scientific Review Board who oversee a biannual call for proposals and directly fund the doctors, scientists and research fellows who are working towards a cure. Recent press release revealed that this research has produced a technology which in the next few years could enable a 12 hour dose instead of 6---that is REAL progress. It's not a cure, but to think Holt could some day get a full night of rest is almost the next best thing. Your contributions do make a difference.
There were so many people who were incredibly generous with their time, their money, their compassion-- I'm certain I cannot name them all--I'm concerned that I may leave someone out...I'm positive that I will and my apologies if I do. Chrissy and I were completely overwhelmed; it took us two full days after the event to really even begin to get back to some state of normal. The event stirred so many emotions that we literally walked around in a somewhat comotose state absorbing it all in. An old boss and dear friend Pat Bennett and his wife flew in from Baltimore. Davis Robinson called in favors for auction items, Freeman Barber graciously donated an amazing fishing trip, Mary Margaret and Elton Vogel thank you so much-- dontated their Mountain House, Richard Petty Driving experience and a whole host of other items, Joe and Ann Douglas flew in from Tampa, Jeff Sockwell (somewhere in Asia) sent in a VERY generous dontation, Chad Cooke bid on just about everything, Scott Fisher who helps me keep my thoughts straight, Matt Livingston and 17 of his friends are going to the beach, Charles Thrift, The Woldmans, Harrison Jones, Tony Pizzo, Danny Sanford and Matt Manuci donated all of Napa Valley, Jamie Shipley cant say thanks enough for all of your help, Rich Van Tassell came and donated a beach house, Mike Lehman and Chris Lutkowski came in from Georgia, Hermann Moore the auctioneer and generous donor of a beach house, Andy and Mary Griffin donated a very nice personal chef service, Phillips Bragg donated a 100 person pig pickin, Chris Rozak, the McAfee leadership team (lead by an incredibly generous and understanding Barry McPherson), McBride Internet and Latitude35 donated a website, Justin Claytor sold gosh knows how many tickets, Barry Parks, Eric Broadway rallied his troops, ----Chris Barry---, Katherine Davis, John and Rosie Booth, Carole and Fred Bradley, Eddie Grier, Brandon Grier, David Turton and a very generous Nike rep, eGolf, Southern Mechanical, Gregory/Grier, Kelly McArdle, Bragg Financial, Ann Wilkinson, The Doerings, Gulledges, Miyares and Gambas, Mike and David Tanksley, Chad and Nila, The Baucoms, The Beards, The Whitleys, The Hesters, The Growneys, Jonathan Ward, Aubrey Grier---our rock, Joyce, Harrison Ellinwood, Justin Reveles, The Mahars, The Blythes, Josh Chambers, Jeff Daniels, Amy Wright, Banks and Ben Bourne,Hiram and Whitney, Brian and Robin Grier, Whitney Brackett, John McAuley, Amy Green, Dr. McKay, Frances Phillips who called in a favor to Molly Shannon of WBTV, Dan McArdle, Todd and Libby Allison and their amazing 9 year old daughter who continually finds creative ways to raise on Holts behalf, John Griffin, Mariette Booth, Trish Maguire, Matt Hagler, Frank Maynard, The Wolters, The Thornes, The Styborskis, The Wolfes, Jennifer and Tim Phillips, Lea Dunn Tackett, Brent Bagwell, The Harmons, Kriten Nell,The Proctors, The Pedersons, The Rocks, The Burnettes, Trey Clodfelter, all of your spouses ---that's about 1/3rd of those who helped make this such a special night for us---I'm trying to do this from memory---i know I'm leaving a ton of very generous people off of this---this is just people who were there---there were countless others who helped who were not able to attend.
It took me a couple of weeks to write because I honestly just dont know what to say---I still dont. You have all touched our lives in a very meaningful way---what you did will make a difference. You raised and donated enough to fund a study--a study which will get us closer to a cure and most certainly a step which will help Holt live a better life. Thank you all so very very much.
Sunday, December 23, 2007
This Holiday season has been filled with introspection---much of it sad, some of it angry and all of it full of emotion but it would not be fair dichotomize everything into those two categories. Our private family time is filled with laughter, smiles and play. We hug, we kiss, we laugh, we cry, we bicker and moan and we never go to bed without a hug a kiss and an I love you. Mary Logan and Jack seem mature beyond their years in their understanding and their compassion and have taken leadership roles in ensuring that Holt always feels included during play and that he always has a smile on his face. In a very strange way I have come to realize that we have been given a gift---a gift that enables us to provide in a way that many people in the world are never able to experience---it occurred to me, you see, that every six hours of every day, we provide life to our own child.
Holt is doing better and after several unsuccessful attempts to validate his bloodwork we have finally received word that his Cystine levels have stabalized. The G-Tube has been a blessing in more ways than one in that not only can we ensure 100% compliance with his meds but also we are appropriately supplementing his caloric intake---as such, I'm very happy to announce that he is also now "officially" on the charts for height and weight (25th percentile for height and 1st percentile for weight).
I'll stop my rambling now--there was so much I wanted to say and I'm not sure how much sense what I did get to will actually make when I read it again....at any rate, my wife has recently informed me that "exhausted is the new happy"...we must be the happiest people on earth. Lol. Merry Christmas everyone and thank you. Go give your families a hug and tell them that you love them.
Sunday, September 23, 2007
Chrissy and I both were thinking the same thing---this is still early for us--we haven't yet figured out how to deal with all of this---we are still trying to make the adjustments in our lives that we have to in order to be able to deal with all of this---how in the world can we muster up the energy to put in the time and effort required for a fundraiser----we simply aren't ready and dont have any incremental emotions to spare...obviously we want to be able to make this a home run type of event but we just arent ready to put in the time to make it as such...let's send out a few emails to our friends and family and see if we can make it respectable...we thought that this was going to be a "nice" event--simple, small and nice.
Well she sure showed us---more than 150 people came out to walk more than 200 donated and as of now over $15,000 has been collected and apparently more is on the way. Donations came in from as far away as Japan---the kids two doors down emptied their piggy banks and brought in $38.00... a dear friend flew in from Jersey in the morning and flew home after it was over....he brought a check for 5k....a neighborhood kid gave her family massages and raised 40 bucks...the Doerings (the family who put on the event) bought everyone t-shirts----food---drinks--banners---brochures---my pop warner football kids came---my oldest friend (from the 3rd grade) came---people who work with my sister in law (whom i have never met) came--- i could go on and on---it was amazing. At the end of the day, the key takeaway is this- the kindness of the human spirit and the generosity of friends and strangers is remarkable.
All i can say is- thank you--I just wish i could say it in a way that made you all feel the way we feel now--- which i really cannot appropriately put into words.
Jason and Chrissy
Friday, July 06, 2007
Jack has had two trips to Mimi camp and one to Grammy Camp in Cary and Mary Logan went with Grammy to Massachussetts for the annual clam boil. Mary Logan had a successful season with the Hamptons swim team and both kids have spent time at various summer camps.
Holt is making positive progress. At his most recent check-up he weighed in at 21 pounds and is working hard every day on his walking. He can take several steps now without his walker and does everything with a big smile on his face. He LOVES to be outside in the sun with his walker scurrying about the garage and the driveway and gets pure joy out of rolling all of the balls in the garage down the driveway and into the street. He goes to physical therapy on a regular basis and they have ordered inserts for his shoes that will help correct his severe pronation which will help strangthen his hips, thighs and back.
Chrissy and I will be going to San Antonio on the 19th of this month for the yearly Cystinosis conference and we look forward to our continuing education on topic and meeting other families with similar circumstances. Chrissy continues her machine-like routine and is "on" every single day. I think we are both making progress in our spirits and are hopefully in the early stages of acceptance. My travel schedule with work has been busy (leave for China and India tomorrow) and will continue on point throughout the summer but McAfee has been good to us and we could not be more pleased with how they have supported us throughout this situation.
We are blessed to have such a wonderful friends and family network and truly appreciate all of the support we continue to receive. Until next time...thanks.