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.
Monday, April 02, 2007
The National Institute of Health
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-