Grayson’s Story: We live in the USA where we would have never thought getting care would have been so difficult
Kay McClure:“Grayson, a native Memphian, has been sick since just before his 12th birthday, and he turned 22 years of age in January, 2015. He experienced a normal childhood, but has basically been out of the “real” world for ten years. It all began with an excruciating burning in his head while on the basketball court during a school game. Grayson immediately had to be benched, and that pain seems to have never, ever gone away. Other symptoms have presented themselves. He has lived in excruciating pain, with tremors/jerking/convulsing, has mimicked cushings disease, developed striae all over trunk of body and other Cushing symptoms, but low cortisol, has no human growth hormone, tachycardia, gallbladder and appendix removed, gastrointestinal dysfunction, and a list of symptoms that the average person or physician would never believe. There have been different possible diagnoses (i.e. Lyme disease) at different stages of his journey. He has kept his spirit hopeful, even in the most dire circumstances. His outlook at this time is not to even get well until his case is reviewed by other scientists along with his endocrinologist in hopes that the many metabolic roadblocks in his body can be figured out and used to help as many people as possible. His mother maintains that she and his dad are a little more selfish… they want him to be healed.
Grayson’s parents have exhausted every avenue to which they have been referred, and of which they are aware through their own never-ending research. Grayson has visited many medical facilities and specialists, but no definitive diagnosis or successful prognosis/treatment, to date. A few to name would be: Baylor University (exome sequencing testing); Diamond Headache Clinic in Chicago, Le Bonheur Children’s Hospital; Mayo Clinic, Vanderbilt University, and spent last four years in Reno, NV being treated by a research endocrinologist and an internal medicine physician.
His endocrinologist in Reno (which is where Grayson and his mom temporarily reside while Dad lives and works back home in Memphis) has continued gathering evidence through various trials and manipulations to support his hypothesis of the various genetic mutations and metabolic roadblocks in Grayson’s body. Grayson’s case has been presented to many including several applications to NIH, but so far has been denied. NIH undiagnosed dpt turned Grayson’s case down twice. The last time, NIH asked that he be seen at a tertiary clinic again, and have a team of doctors evaluate, then they would reconsider. UCLA undiagnosed neuromuscular dpt, a tertiary hospital, seemed interested in his case, but after six weeks of waiting, they denied him.
Grayson has had whole exome sequencing done through Baylor in 2012, has many peculiar mutations such as SCN1A, SCN1G, CREBBP, EP 300, KALLMAN syndrome, sodium channel pain mutation, several muscular dystrophies, and many others believed to be interacting and possibly causing his very unusual ten year list of metabolic, neurological, muscular, and pain symptoms. We are DESPERATE in trying to get into the undiagnosed disease program and have a team of researchers evaluate him and his exome sequencing. We have been trying for five years. We feel that Grayson’s case has possibly fallen through the cracks due to having his exome sequencing performed in 2012, before it became a networking system.
PLEASE HELP US. WE LIVE IN THE USA WHERE WE WOULD HAVE NEVER THOUGHT GETTING CARE WOULD HAVE BEEN SO DIFFICULT. PLEASE PLEASE HELP US!!”
Sincerely,
Terry and Kay McClure (parents)
mcclure.house@gmail.com
