GrierTown

Finally, an update

2011-01-20T09:42:00.003-05:00

Hello everyone. As you can see I have not updated in quite some time, but am resolving to do a better job in 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!

Out of the blue

2008-07-02T04:35:00.007-05:00

Sometimes it just hits you like an earthquake---one minute you are going about your daily routine and then---out of nowhere---bam---you get rocked. In this case we got rocked by a couple of the nicest, just---genuinely nice, good---people. You know the kind of people that just seem to put you at ease when you are around them people? The kind of people that when they leave you are like---"I want to be like them" type of people?

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.

Mission Accomplished

2008-04-21T21:21:00.010-05:00

The first ever Cystinosis Research Foundation International Research Symposium was held in Irvine, California the first week of April. The purpose of the event was to bring together (in one room) all of the researchers, doctors, scientists and geneticists (funded by the CRF---and your direct contributions)in order to update and share information and progress on their studies from the past year. It was a landmark event as most all of these people had never met each other and were not intimately aware of what each other are doing. The event was a huge success. Doctors were asking thought provoking questions, exchanging cards and ideas and a few jabs every now and then---all in the name of progress. There was a positive air in the room and when all the smoke cleared I think we all agree as to the value of the time spent at UC Irvine over those two days. I'd like to start by thanking Danny and Molly Kelly. I dropped a hint that since Chrissy could not attend that the Stacks indicated I could bring a guest. I had barely gotten the words out when he simply said--"I'm in". I really needed someone there with me--the emotional support and thought leadership you gave were remarkable. Thanks DK.

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.

Day1-
-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.

Good night-
Jason

They gave their "Hearts for Holt"

2008-02-29T21:07:00.005-05:00

What an amazing night. 5 very special people and countless others had a vision, the courage to see it through and produced one amazing event. Sometime in December, a couple dozen of our friends got together (without us knowing) and decided that they wanted to create an event which would raise funds for the Cystinosis Research Foundation (CRF)in Holts honor. CRF is a privately underwritten 5013C charitable foundation who oversees (and has produced) significant progress towards a better life and ultimately a cure for those suffering from Cystinosis. In a very short amount of time, this organization has raised approx $6 million and organized a discreet methodology to ensure that every penny raised goes directly towards progressive and meaningful scientific research focused solely on Cystinosis.

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.

And on Earth Peace to Men of Good Will.

2007-12-23T12:04:00.000-05:00

The title of this blog entry is deliberate and specifically intended to say thank you to all of you who have so altruistically kept us in your thoughts over this past year. Its literal translation is simple to decipher but its assimilated interpretation means so much more. It has become glaringly apparent to us that its not only the "what you belive" but also the "what you do and the why you do it" aspects of how you touch others that enables you to show us the compassion and concern that you do. We have been on the receiving end of so many meaningful acts of kindness over the past year that there seems to be little other explanation than people want to make a difference---they want to impact others in a positive way and they want to do good and they want their actions to reflect a deeper meaning. If you have ever walked your life and wondered the if's and how's of making a meaningful impact on others----look no further, you found it here and we continue to thank you. Thank you. Thank you. You have helped to raise our spirits, you have helped to raise our outlook, you have helped fill voids--simply put, you have given us hope. Thank you.

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.

Love-
Jason

They walked for Holt....they walked for a cure

2007-09-23T20:02:00.000-05:00

At the approximate time of my last posting- our 18 year old high school senior next door neighbor came to our house, knocked on the door, pulled Chrissy and I aside and said- "I want to do a walk for Holt to raise money for a cure for Cystinosis". As with everything else we have been faced with here--we didn't know how to react...quite frankly, what do you say...other than ok? We looked at each other and said---ok...

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.

Love-
Jason and Chrissy

Summertime

2007-07-06T20:20:00.000-05:00

My apologies for the long delay, things have been quite hectic! Mary Logan squeaked through the first grade and Jack managed to get through another year of pre-school which means that summer has officially begun. We started off with a long weekend trip to the beach to spend some time with Mimi and Papa Fred at their new house (quite the retreat, I must say) and had a wonderful time. The kids love the beach and thoroughly enjoy riding on the Monster Truck style golf cart.

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.

My Wife

2007-05-18T23:02:00.001-05:00

I wish that I could report positive news. I wish more than anything that I could communicate that things are progressing well and that the adjustments that we are making are getting easier to deal with; the fact is things have taken a negative turn. Holt's levels continue to decline and his meds dosages continue to increase. I realize it sounds like a broken record but the reality is that Holt has an incredibly rare genetic disease that will signifcantly impact every major organ of his body. He is going to need a kidney transplant, he is going to need eye drops every waking hour to prevent him from going blind and he is going to have to take a cocktail of meds every 6 hours for the rest of his life. He will never get a full night's rest and he will continually be a prisoner to words like research, funding, experimental and trial. I have to be able to keep this in better perspective. At the end of the day though there isn't a thing in the world that we can do about it but stay positive, ensure that he gets his meds on time, provide a stable, loving and caring environment in which we all can thrive and do what we can to enable research. This post isn't just about Holt- the cuts get deeper. As a disclaimer, I realize that there are a lot of folks who read this and I appreciate that. I do also need to set an expectation that as much as this is about providing friends and loved ones with information; it's equally as much therapeutic and cathartic for me to be able to write it out. If it gets or seems harsh, banal, draconian, relevant, irrelevant (you'll form your own opinion)... it is what it is and hopefully you now at least can potentially understand why.

I often struggle that if I'm going to write about Holt and his condition then isn't it also fair to give a holistic view into how we are trying to deal with this new life? At an idealistic level, I guess that my hope is that, in some way over time these posts will provoke you to slow down a little and think a little bit differently about the world in which we live and the people in it. Maybe it will enable you to make your own changes in a meaningful and positive way- or at least to truly appreciate the "what we have" instead of the "what we want".

The words "failure to thrive" are taking a toll on Chrissy. It's hard to relay the internal despair that I experience when I look into her soul. She has this incredible will, laser focus, tireless dedication and enthusiastic spirit and I know that as hard as she works and as much as she puts into it; that she ultimately feels helpless... it's maddening to me. She sleeps with a cell phone next to her ear every night- wakes up at 4am to deliver the worst tasting, worst smelling meds to an 18 month old child that she has to wake from a deep sleep; calm, force feed, and comfort him back to sleep...and then she starts her day. I don't know what other people do in situations like this; I cannot imagine all of the different coping mechanisms that people use to try to get back a semblance of normalcy when facing true infinity. I guess we will keep learning. It's important to me for you to know what an amazing person, wife and mother that Chrissy is. Never in my wildest dreams could I have imagined being able to live my life with someone who is as patient, kind, devoted, caring and talented as she is. She is a one of a kind; the real deal and I'm the luckiest man in the world to be able to walk lock-step with her.

I do know that Holt's condition has changed the physical nature of our lives but I haven't concluded yet how it will shape our life purpose, goals and objectives. The easy answer is to go straight to research funding-but I want more than that for Holt; he deserves more than "just a cure"-- he deserves a better conclusion than what he is signed up for. At least, I want him to be able to live his life knowing that because of him, other people are able to be...better people. Is there a better legacy to leave than to enable a positive change in others and for them to reflect that change in others?
Until next time, thanks.

360

2007-04-27T22:20:00.000-05:00

I cannot say thank you enough to all of you who have continued to support us; the kindness of friends and strangers has been an incredibly meaningful experience to us and has made a positive impact on our lives. I think that things are beginning to come full circle and we are adjusting to our new "normal". Holt is now on full dosage of all of his meds and is making progress every day- his Rickets has almost completely subsided and he is working hard on his walking every day. He can stand and walk behind a walker- Mary Logan shouts to him "bend your knees Holt, bend your knees"! He has a warm and welcoming disposition, a "can do" spirit and a perpetual smile on his face. Although his vomiting has increased it is considered normal for the amount and type of meds that he takes. It is what it is.

I'm not really sure how much more I can say- its time to get on with life. Its time to go back to the only way we know- happy. We have made a 180 change and had a few really big surprises along the way but life just continues to come full circle. We are still incredibly blessed- we have 3 wonderful children- we laugh- we hug- we communicate- we teach- we learn- we appreciate- we listen- we share- and yes, we still cry. But its ok- we're also still the Grier's and we still love it.

The National Institute of Health

2007-04-02T08:36:00.000-05:00

Chrissy, Holt and I made the drive to Washington, DC last week for our introduction to the team at the National Institute of Health. This team led by Dr. Gahl, are the world's foremost experts on Cystinosis and over the past 20 years, they have seen and tracked the progress of over 200 Cystinosis patients. We are fortunate in Charlotte to have a pediatric nephrologist in Dr. McKay who is well versed in Cystinosis (Dr. Gahl was pleasantly surprised that Dr. McKay made the correct diagnosis so quickly as many patients are incorrectly diagnosed before finally getting it right) and are confident that between the two, we are getting Holt the finest care available anyhwere. In addition, Chrissy has made contact with several parents of Cystinosis patients who have been very willing to offer advice and expertise and we are at the moment still soaking it all in. It's a lot to soak in.

It's about a 6.5 hour drive to the DC area and Holt did really well; he has such a laid back disposition. We arrived Tuesday evening at approx 9:00 pm and stayed on campus at The Children's Inn at NIH. We are here for a battery of tests that will set benchmarks for Holt for all of the different body functions that Cystinosis impacts. With these benchmarks, we can compare his yearly test results so that we can understand how the medicines are impacting his ability to keep the disease in check. Tests and x-rays and pictures and bloodwork- for three days is a lot. But, if you are a Cystinosis patient, you want acccess to Dr. Gahl's research so that you can be best prepared when working with the doctors at home. This will also ensure that as he gets older, he will have access to the currently non-FDA approved eye drops which will dissolve the crystals that are forming in his eyes.

The trip was reasonably uneventful but the every 6 hour meds schedule is taking a lot of getting used to- 10am-4pm-10pm-4am and its having a physical and mental toll on us all. I say uneventful- it almost seems routine that Holt is having blood drawn-or x-rays, or ultrasounds- he and all of his 18.5 pounds are so incredibly brave. Just like anyone who is being held down against their will- he fights and he fights hard- if you're going to stick him, you're going to have to earn it! The meds have helped some already and have helped bring his Rickets under control. This should enable him to re-start the growth process in another few months. Dr. Gahl remarked that Holt being at the 10th percentile in height is exceptional (most all Cystinosis children are at 3% or lower) and that the tallest patient with Cystinosis that Dr. Gahl is aware of is approx. 5'-6"- he may challenge for the title. The smell and taste of the medicine are nauseating and as such, it causes Holt to gag and vomit at almost every dosing. The amount and frequency of meds that the kid takes is staggering.

Many thanks to Mimi and Grammy for taking such good care of MaryLogan and Jack while we were gone. This trip was really important to us and we could not have done this without their help. We continue to be extremely grateful to our friends who continue to show their support and generosity throughout this very difficult time- the food and your help have been remarkable and we cannot say thank you enough. Chrissy and I are working hard to ensure that we are good parents to all 3 of our children and that we make them all feel special every day. Mary Logan is playing soccer and participating in dance class and Jack has just finished his first round of swimming lessons. Our new addition to the family- Spicy the Cat has been a hit and is quickly learning the ropes. Thanks for all of your kind words and your prayers.

Until next time-
Cheers

Preparation

2007-03-18T22:07:00.000-05:00

Interesting week (we got a Cat, more to come on that one later). Chrissy has met and spoken with several parents of children with Cystinosis. Some of what we learned was positive and some was scary but at the end of the day, it is what is is and its a good thing to continue to become educated on the subject. I want to continue to say thank you to all of our friends and family. Your generosity and support are amazing and your help has enabled us to focus our time and efforts on the right things, we are grateful and humbled.

Chrissy also spoke with the Dr. that invented the Cystagon drug that Holt now takes every 6 hours. He gave her his thoughts on the regimen that we should undertake on a move forward basis (that in and of itself is a complete life changer). We wrestled with the times for several days but it seems that 6 am, noon, 6 pm and midnight will be the schedule that we will go with. The hardest part of it all is waking him up at midnight; he is sleeping so well and it just sucks (sorry, it just does) to have to wake him to give him medicine that smells like rotten eggs. In many ways it creates a special bond between us but its still a very emotional time. I will be travelling this week to Texas for work and Chris will be doing all 4 on her own...going to be a tough week. Tough tough tough.

We solidified our plans to travel to Washington, DC (March 27th- 30th) to meet with the team at the National Insitute of Health to begin participation in their ongoing clinical trials. To my understanding, this will ensure that we are getting Holt in front of the most experienced Cystinosis team in the world and will also enable us to get Holt the non-FDA approved eyedrops that will help control the crystallic build-up in his eyes. Chrissy and I are planning to go to San Antonio this July for a yearly conference held for families dealing with Cystinosis.

Holt continues to be a happy little boy. He loves to go outside and he loves his new pet cat-"Spicy". So, after 15 years of negotiating; Chrissy wins...she pulled the Holt card but she won. In all seriousness- one of the interesting themes that came from Chrissy's conversations with other parents of children with Cystinosis was that they all seem to share a love for animals. So (of course) we went on the quest to get a cat. Now, you just can't go to the cat store and buy a cat and the people who have the cats are VERY particular about who they dole them out to...I'm actually amazed that so many people actually have cats considering the background investigations these people do...at any rate-

We packed up the car and drove all the way down Harris Blvd to PetSmart. We found a cat named Tobias that we liked but then had to go through "The System" to get him. After a week of filling out paperwork and faxing it back to a human that refers to herself as "The FurBall Lady"; we were all set...or so we thought. It seems that she lost her light sabre the night before she was supposed to meet us to deliver the goods because she all of the sudden came up with some story about our last cat not getting her shots on time....we've never had a cat...unbelievable. So we loaded up the car this weekend and behind a wall of families 15 deep...we saw THE CAT...they all wanted her...and there was another Furball Lady Type Person doing the interviews...(literally on the spot, in store interviews) and we were # 15...but I had Mary Logan and Jack with me (both on good behavior) and told the Holt story...one call close...we win.

Ups and Downs

2007-03-11T19:42:00.000-05:00

First of all, thanks to all of you for how you have reached out to us and offered (and given) support; We are so appreciative and it is quite humbling. As hard as some of this must be to read, you have to know that Holt is as happy a kid as I have ever seen. If he is not in a Doctor's office then he is happy, active, smiling, trying his darndest to stand on his own and coming up with more and more sounds every day. Chrissy made the comment to someone today (who brought us dinner) that if you didn't know how old he was you wouldn't know that there was a thing in the world wrong with him. This was an extrememly busy week (I was out of town) and I cannot emphasize enough what an amazing woman I am married to. Not only does she NEVER lose her cool, but she handles herself like a pro at all times and is somehow able to to keep it all together and be a mom, a wife, a daughter, a sister and a friend.

Holt had two major appointments; one with a GI specialist and one with a corneal specialist. The GI specialist had him ingest a barium isotope so that they could take pictures of it traveling through his GI tracts so that they can determine the best place to insert the gastric tube. We are eagerly anticipating getting this tube inserted and have been told that he can utilize it for several years; Chrissy spoke to a mom this past week whose daughter with Cystinosis had her GI tube until age 11. Considering the disgusting taste and smell of the medication that Holt will have to take every 6 hours for the rest of his life, this will truly enable us to have a somewhat reasonable quality of life as it will ensure that he gets his meds and appropriate nutrients without a struggle. Speaking of nutrients, he has been eating like a COW (and for the most part keeping it down!!!!). He LOVES foods that are salty and spicy as well as Gatorade, Hawaiian Punch and of course, H2O. Our neighbor across the street had made some spicy chili, that Chrissy said was spicy enough to make her eyes water but that Holt ate it like it was candy.

The second appointment was with the corneal specialist who confirmed the crystals in his eyes. Holt has two cases submitted on his behalf to the National Institute of Health; one with regards to the Cystinosis and one with regards to the eye crystals. The medication for the Cystinosis is no longer manufactured in the US and is only distributed via PharmaCare (who owns CVS). The eye drops are not FDA approved (as of yet) which means that if we decide to get them, we will have to travel to the NIH in DC in order to get them so that his progress can be tracked over some period of time. The folks at McAfee have been great (by the way) and are working hard to ensure that we are able to stay ahead of this (from an insurance perspective) as much as possible.

We got our first order of Cystagon this week which is the single prescription medication available for Cystinosis. Our neighbor Mary, who is a NP at Carolinas Medical actually picked it up for us since it was on her way home (it will be mailed to us in the future) and the Pharmacist indicated that he was only aware of 3 or 4 cases of Cystinosis in the surrounding states (as he is the person who ships this drug to its recipients). Now, Mary is our next door neighbor with a great big brain and and even sharper wit, so if you at all know Mary, you would not be suprised to know that she spent the majority of her time in the Pharmacy working the Pharmacist for information to the point that before she even got back home from work, the parents of a girl with Cystinosis had called Chrissy and spent a couple of hours on the phone with her; which was INCREDIBLY helpful!. Thanks Mary!

These parents explained many of the details that Chrissy and I were looking for. This girl is 17, she had her first kidney transplant a couple of years ago, is about to graduate high school on time and is doing quite well. I also received an email communication as a result of this blog from a young girl who was diagnosed with Cystinosis at about the same age as Holt who is about to graduate college! I have not had the chance to follow up with her has of yet but will be eager to speak with her. It is my undertanding that (generally speaking) children with Cystinosis are able to attend school and graduate like other kids but typically have trouble with Math and Science. Let me tell you, Chrissy has sisters who make John Nash (Nobel Prize)look stupid in Math and Science so 1) we have "in family" tutors who can get him to pass and 2) he can be a writer...

I have so much to say, I need to organize my thoughts and will pick this back up in a few days. Thanks again for all of your prayers and your correspondence, it is comforting.

Our journey begins...

2007-03-01T20:31:00.000-05:00

One of the real negatives with his condition is that he has zero appetite and an unquenchable thirst; the combination causes him to vomit. As a result, Holt has lost weight to the point that we (and his doctors) have gotten extremely nervous about his ability to thrive.

Today we learned that Holt will have a gastric tube inserted into his stomach (next week) to enble him to get the nourishment that he so desperately needs. I realize that this sounds drastic and to some degree it is, but this will be (in our minds) be the start of his new journey and will ensure that he gets his daily need with regards to caloric intake.

Cystinosis Diagnosis

2007-02-28T21:27:00.000-05:00

Chrissy and I would like to thank all of our family and friends who have taken the time to call, write and pray on behalf of our son Holt. It was confirmed today that he is one of the few people in this world who will spend a lifetime fighting this dreadful condition known as Cystinosis. To learn more about this condition click on the link below (I have cut and pasted some of the FAQ's). Thank you so much for all of your support, it is greatly appreciated.

WHAT IS CYSTINOSIS?
Cystinosis is a metabolic disease characterized by an abnormal accumulation of the amino acid cystine in various organs of the body such as the kidney, eye, muscle, pancreas, and brain. Different organs are affected at different ages.

WHAT CAUSES CYSTINOSIS?
The cystine content of cystinotic cells averages 50-100 times the normal value. The cause is a defect in the transport of cystine out of a cell compartment called the lysososme, in which cystine accumulates. Because of cystine's low solubility, this amino acid forms crystals within the lysosomes of cells, and this is probably what destroys the cells.

WHAT ARE THE SYMPTOMS?
There are three clinical forms of cystinosis. Infantile (or nephropathic) cystinosis; late-onset cystinosis; and benign cystinosis. The latter form does not produce kidney damage. Infantile and late-onset cystinosis differ in the age of appearance of the first symptoms and in the rapidity of the clinical course. Infantile cystinosis is usually diagnosed between 6 and 18 months of age with symptoms of excessive thirst and urination, failure to thrive, rickets, and episodes of dehydration. These findings are caused by a disorder called renal tubular reabsorb nutrients and minerals. As a consequence, these important molecules are lost in the urine. Children with cystinosis also have crystals in their eyes (after one year of age) and an increased level of cystine in their white blood cells. Without specific treatment, children with cystinosis develop end-stage renal failure, i.e., lose their kidney function, at approximately 9 years of age.
If cystinosis patients receive a kidney transplant and reach adulthood, their new kidney will not be affected by the disease. However, without cysteamine treatment (see below), they can develop complications in other organs due to the continued accumulation of cystine throughout the body. These complications can include muscle wasting, difficulty swallowing, diabetes, hyperthyroidism, and blindness. Not all older patients develop these problems, however.

CAN CYSTINOSIS BE TREATED?
The symptomatic treatment of the Fanconi syndrome is essential. The urinary losses of water, salts, bicarbonate, and minerals must be replaced. Most children receive a solution of sodium and potassium citrate, as well as phosphate. Some also receive extra vitamin D.
The aim of specific treatment for cystinosis is to reduce cystine accumulation within the cells. This goal is achieved by cysteamine treatment, which has proven effective in delaying or preventing renal failure. Cysteamine also improves growth of cystinosis children. The Food and Drug Administration (FDA) has approved a capsule form of cysteamine called CYSTAGON . .
Kidney transplantation has proven very helpful in patients with cystinosis, and cysteamine therapy should be considered to try to prevent the late complications of the disease (see above).
For both young children with cystinosis and older patients with a kidney transplant, cysteamine eyedrops may be available to remove the corneal cystine crystals. However, these are not yet approved by the FDA.

HOW IS CYSTINOSIS INHERITED?
Every person's body is made up of millions of tiny structures called cells. Each cell comes with a full set of instructions which tell the cell what to do and how to make our bodies work. The instructions are called genes, and they are made from a chemical called DNA. Genes usually come in pairs, and they determine everything about our bodies. For example, certain genes determine the color of our eyes, while other genes determine our blood type.
Genes are often called the units of heredity because the information they contain is passed from one generation to the next. We all get one gene in each pair from our mothers and the other gene in the pair from our fathers. In this way our bodies work with a combination of instructions inherited from both our parents. Parents have no control over which genes get passed to their children.

Cystinosis is called a recessive genetic disease, because parents do not exhibit symptoms, but they each carry a recessive gene which may cause Cystinosis in their children. The genetic path of Cystinosis is therefore impossible to predict, and a cystinotic child is almost always a shock to parents. The recessive gene may lie dormant for many generation until suddenly two people with the defective gene have children.

Each time two such Cystinosis carrier have a child together, there is a1-in-4 chance (25% risk) of having a child with Cystinosis. and every healthy sibling of a child with Cystinosis has a 2-in-3 chance (66% risk) of being a carrier, like his parents.