“But thanks to Dr. Thornton and his team, breakthroughs are revealing more about the disease. I support HI awareness and hope this can accumulate more money to fund more research.” - Elijah's Mom
Elijah has been in and out of the hospital a majority of his life. He was first hospitalized at two weeks of age due to hypoglycemia, chronic diarrhea, bradycardia, and hypothermia. For two months we worked closely with endocrinology and he was diagnosed with hyperinsulinemia and began a medication well known to HI parents, Diazoxide. It managed his blood sugars, but he still continuously had lows when he became sick, which was virtually all the time. After five ICU stays and seven long hospitalizations we got a breakthrough in his diagnosis. He has a very rare genetic disorder known as PCSK1 deficiency.
Fast forward to New Year’s Day of 2018, Elijah contracted RSV and was intubated. Our ICU in Oklahoma was too full so he was life-flighted to Cook Children’s Medical Center. This was truly the best thing that could of happened to my sweet boy because we were introduced to Dr. Thornton. He speculated Elijah was misdiagnosed. After 23 days of intubation Elijah was healthy enough to start testing. Dr. Thornton conducted a number of tests and concluded before our discharge that my son has hypopituitarism which is a symptom of his genetic disorder. With hypopituitarism, cortisol insufficiency was revealed and gave an explanation for why my son has been so sick, so often, and why when he becomes ill, it is so severe. A growth hormone deficiency resulting in hypoglycemia was also identified.
Once beginning the medication for his new diagnosis and stopping diazoxide we have not seen a low blood sugar since and have been home two months without hospitalizations. I can’t thank Dr. Thornton and his colleagues enough for all they did for my son. He has totally changed our lives and his brilliancy is beyond anything we have yet to encounter. I personally know how scary hypoglycemia can be considering we dealt with it over a year. He is now 16 months and thriving. Along with all his illnesses he experienced excessive hair growth and cardiomegaly that was thought be due to diazoxide. Not enough research has been conducted for this incredibly rare disorder known as hyperinsulinism and I stand by and support all the parents and patients that suffer with this very frightening disease. But thanks to Dr. Thornton and his team, breakthroughs are revealing more about the disease. I support HI awareness and hope this can accumulate more money to fund more research.
If you think this page contains objectionable content, please inform the system administrator.