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.
Sunday, March 11, 2007
Ups and Downs
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.