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Call the JDRF Monogenic Diabetes Hotline: 1-866-780-0096
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Jackson was diagnosed with type 1 diabetes at the early age of 9 weeks. Instead of worrying about diapers and formula, we stressed over glucose levels, insulin mixture, and how many carbs are in a serving of baby formula. Jackson received a minimum of three insulin injections each day and had his fingers, toes, or feet stuck every two hours for blood samples to check his glucose levels. It was a lifestyle we didn't want him to endure for the rest of his life.
During a routine visit to Children's Hospital of Alabama in 2005, Jackson's endocrinologist, Hussein Abdul-latif, provided us with some interesting information to research. The name of the gene he provided us to research was "kir6.2." Mutations of this gene are associated with transient neonatal diabetes, a form of monogenic diabetes. That little piece of information has forever changed Jackson's life.
I investigated kir6.2 and located a research team in England. I found Drs. Andrew Hattersley and Francis Ashcroft were associated with Oxford University in the UK. Once I located Dr. Hattersley's contact information, I sent him an e-mail requesting his help in fighting Jackson's diabetes. He responded within hours. His response included detailed instructions about how to collect blood samples from Jackson, myself, and Jackson's mother, and where to ship them. We contacted our endocrinologist to assist.
We collected the samples and shipped them to the UK. Sixt to eight weeks later, we received confirmation that Jackson had tested positive for the kir6.2 mutation. At the time of his diagnosis, we were informed that Jackson was likely the first case diagnosed in the United States and approximately the 35th case in the world. Included with the results were protocols written by Drs. Hattersley and Ashcroft detailing the procedures to transition Jackson off insulin.
In December 2005 at the age of 16 months, Jackson was successfully transitioned off insulin to oral glyburide pills. The transition required only three days of observation at the hospital. He has not received insulin injections since the transition and only requires glucose monitoring if he is not feeling well. Since being on glyburide, Jackson has yet to have an abnormal glucose level. Almost 4 years have passed and Jackson is now a healthy 6-year-old boy.
We want to thank Drs. Hattersley and Ashcroft for their dedication to a finding a cure to a disease that affects so many people. We would also like to thank Dr. Hussein Abdul-latif at the Children's Hospital of Alabama, for beginning this awesome journey with the word "kir6.2."
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