Adventures in KAndylaND

August: Our Family's Diaversary Month

August: Our Family's Diaversary Month
For every parent, the birth of their child is a significant month. But for the parent of a child with a rare disease, or a significant diagnosis, the month of diagnosis is also a time that is forever remembered. For some, especially in the diabetes world, we call this our "Diaversary". August is always a hard month for us because both of our children were diagnosed with a rare form of diabetes that month. Neonatal Diabetes

11 Years With a Life Changing Diagnosis

Andy is a 12 year old with Neonatal Diabetes and DEND Syndrome.
Eleven years ago we were entering Brenner’s Children’s Hospital in North Carolina to become pioneers for a rare disease. While Andy was not the first patient in the United States to come off of insulin, he was definitely in the inaugural class (we think one of the first 5 at least). For 17 months, we kept him alive by… Continue reading

Closing the Gap: The First Two Weeks on Carbamazepine

We are now at the end of the second week on Andy’s new medicine, Carbamazepine (Tegratol), and so far, we have had no adverse side effects.  We started him on a small dose of 2.5 ml (50 mg) twice per … Continue reading

Closing the Gap: Is Gene Therapy Our Future?

There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation: Which one of us gave it to him (or was it both of us)? – and Why can’t … Continue reading

Highs and Lows with New Medicine

Katie had bruised heels as a baby due to checking her blood sugar on her heels since baby fingers are too small to stick for blood sugar checks.
Katie was diagnosed with Neonatal Diabetes at 10 days old and started on glyburide that very day. While we had a lot of experience with this rare disease with Andy, dealing with a newborn with diabetes was a different skill set altogether. . . Continue reading