A Wichita Falls family is looking for hope after reaching out to doctors across the nation.
Hunter Holster is just over a year old and has a rare chromosome disorder. The disorder is so rare, it's the only documented case in the world, and there's no name for it.
When Hunter Holster was born, his parents knew something wasn't quite right. He had fluid on his lungs and low muscle tone, or hypotonia, often known as "floppy baby syndrome." A series of doctors and tests revealed the rare disorder.
Hunter's mom, Becky, says she just wants to make sure they've done everything they can. Hunter has a duplication and a deletion on the long arm of chromosome 10, but, that's about all doctors know for sure.
Now just a little over a year old, Hunter's physical and mental development is progressing, but not to the level expected for a one year old. His food must be pureed. He has several notable but unexplained traits including constant rocking and head banging. He experiences tremors and has a weakened immune system.
Becky and Brady Holster couldn't find answers here in Wichita Falls, but a neuro-geneticist at Massachusetts General Hospital is willing to take on Hunter's case. Becky says, "I know in the back of my mind there's a chance they're going to tell us you've done everything you can do."
The Holster's realize a cure for Hunter's problems is not likely. They're just hoping for some answers that can help prepare them for what may lie ahead. Becky continues, "For me to think, I'm going to have to tell his teacher that he has a rare chromosome disorder and we don't know what the next day is going to hold."
They hope by sharing Hunter's story and medical records researchers can advance their study and maybe find a cure, or a medication that can help someday down the road.
Hunter's dad, Brady says, "It's not only to help Hunter, but to do the research side of it and maybe help another family." That's something Dr. James Gusella, The Director of the Center for Human Genetic Research at Massachusetts General Hospital agrees with. He says, "Because these cases are so rare they be studied in order to capture the information about what chromosome region relates to what symptom."
Becky says getting to Boston is essential for Hunter because there are other cases similar to his, but like Cook's Children's Hospital in Dallas, so many hospitals don't record cases. Dr. Gusella says the chance that another person has the exact same re-arrangement as Hunter is probably one in 50 or 100 million. But, he does say that genetic re-arrangements are actually quite common. One in every 300 people, which makes the need for research even more critical. "Participation in research is really the only way we're going to go ahead because we can't make advances by culturing cells in the lab or working on mice, or working on other animals."
In the meantime, the Holster's are making the best of a difficult diagnosis. Becky says, "In the end, if that's how we have to live life, is that we have absolutely no idea what's going to happen, then that's fine."
Right now the Holster's are awaiting genetic results for their older son Brayden and dad, Brady, to see if the genetic mutation was inherited or something that happened at conception. The Holster's have medical insurance, but a visit with Massachusetts General is out of network, and very expensive.