Neonatal monogenic diabetes is a rare form of diabetes which was –until not long ago- an unknown condition mistakenly diagnosed as type 1 diabetes. Recent research, led by Dr. Andrew Hattersley of Peninsula University, Exeter, UK, along with Dr. Frances Ashcroft of the University Laboratory of Physiology, Oxford, UK, has uncovered a genetic mutation in patients diagnosed with diabetes before the age of six months — about one-tenth of a percent of all type 1 diabetics. Nearly half of the patients the researchers studied turned out to have a mutation in one of two critical genes that work together to form a channel that regulates the flow of potassium ions in and out of the insulin-producing beta cells. The gene mutations that affect the potassium channel cause a reduction in insulin secretion, although the beta cells themselves are intact.
My son, Cameron, has neonatal monogenic diabetes, but he was originally diagnosed with type 1 diabetes when he was 5-months old. He’d presented with the classic signs of diabetes since birth, but I didn’t know enough to recognize them. Cameron ate all the time. In a 24-hour period he would drink 48-60 ounces of milk. I thought I was a terrible mom for not being able to keep up with his eating habits. His diapers were also really heavy. As a first time mom, I figured the little guy just peed a lot. By the time Cameron received his diagnosis, he was seriously ill. I thought Cameron had a cold. Within a few hours, however, he was in the ER and placed on oxygen. His extremities were cold, his eyes rolled back, and his skin was gray. He had severe dehydration with shock, most likely secondary to diabetic ketoacidosis. His blood sugar was 747.
I didn’t know anything about diabetes. I had heard about type 1 and type 2 diabetes, but, I didn’t know the difference between them. I thought, mistakenly so, that people with diabetes didn’t adhere to a healthy lifestyle – they weren’t exercising or eating right. How does a baby get diabetes? What would people think of me as a parent?
We live in Alaska, where we do not currently have a full-time pediatric endocrinologist. At the time Cameron was diagnosed, he was the youngest person in Alaska with type 1 diabetes. We were at the Providence Alaska Medical Center in Anchorage Alaska, and diabetic educators came to speak with us during the week that Cameron was hospitalized. They taught us how to test blood glucose levels and how to administer insulin shots. I was already in a state of panic, but a new level of panic set in the first time I saw the needle I would need to inject into my child many times a day. I have always had a needle phobia, which I still have not overcome to this day. Of the many things I would come to learn as I cared for my diabetic infant, however, is that I have more strength than I ever thought possible. When there’s no choice, you do what you have to do.
Caring for Cameron was overwhelming at times. All else became secondary – jobs (I quit mine), marriage, friendships, eating, showering, sleeping – all of these and more had to take a back seat. We were totally consumed. Every 2-4 hours we were either testing Cameron’s blood sugar levels or giving him a shot, day and night. After awhile, the days and nights didn’t exist anymore. It all became a schedule of 2-4 hours, and time for anything else was limited and precious. An embarrassing, but almost humorous, memory I have of my life during this time is eating a bagel and peeing at the same time. I felt like a circus performer. I imagined myself as a sad, tired clown juggling bottles, needles, food, bills, diapers, testing monitors and Cameron. I was trying so desperately to keep everything going, never taking my eye off the most important juggling pin, Cameron.
Every moment of the day, every meal, every time Cameron cried, I thought about his blood sugar. Every time I gave Cameron insulin, I wondered if I’d given him too much or too little. That scenario played out many times in a day, since we were giving Cameron 300 shots a month and testing his blood sugar 15 times a day.
I began to think of my son as a patient rather than a child, my child. I could rattle off his last sugar reading, his 14-day sugar average, his 30-day sugar average, how many carbs he had at his last meal, his last HbA1c, and what he ate at his last meal (down to the last grape).
Looking back, however, I don’t remember when he first rolled-over, or when he first sat up on his own. I don’t remember his first smile at me. I don’t remember really playing with him. I was always concerned about when did he last eat? What are his sugar levels? When is the next time he has to have a shot? Did I give him too much insulin at the last meal? Did I not give him enough insulin? I lay awake at night wondering how I could have done better at keeping his sugars “within range.” I forgot to enjoy the gift of a child that was given to me.
Cameron came with us everywhere. Finding someone who can watch an infant is always difficult, but finding someone who can watch an infant with diabetes is next to impossible. The only four people who took care of Cameron were my husband and I and his grandparents. Never in Cameron’s first two-and-a-half years was there a moment when one of us was not there. He never had a babysitter and he never went to daycare.
When Cameron was two-years-old, Dr. Ian Glass, a geneticist with the Children’s Hospital in Seattle came to Alaska. Our pediatrician arranged for Dr. Glass to see Cameron because Cameron was falling behind developmentally and it was suggested he might be autistic.
Dr. Glass ordered a genetic test for Cameron to test for a mutation in the KCNJ11 gene. Coincidentally, at the same time, someone at our local pediatric subspecialty clinic read an article about monogenic diabetes and also suggested a test for mutation in the KCNJ11 gene. A blood test was done at our local hospital and sent to Athena Diagnostics in Massachusetts. It took 11 weeks for the results to come back. (The turn-around time for genetic testing results for monogenic diabetes is now 7-14 days).
During this time I read an article about Lilly Jaffe, a little girl who suffered from an unusual form of diabetes caused by a genetic mutation rather than an autoimmune disorder as is the case in type 1 diabetes. After Lilly’s new diagnosis she was able to transition from insulin therapy to oral medication. I remember, after reading the article about Lilly Jaffe, I cried. I could only imagine the joy she and her family were feeling. It didn’t occur to me at the time that Cameron could have this type of diabetes. The article made such an impression on me because it brought me hope. Hope was all that I needed to make it one more day, one more hour. The article reminded me there was research being done and discoveries being made. That’s all I needed to hear at the time.
Like Lilly Jaffe, Cameron would later be diagnosed with monogenic diabetes, a genetic variation/mutation in KCNJ11.
Since there was no pediatric endocrinologist in Alaska to treat Cameron, I decided to contact the endocrinologist mentioned in the Lilly Jaffe article, Dr. Louis Philipson. I honestly didn’t expect an answer from Dr. Philipson. Why would the University of Chicago care about someone thousands of miles away? In less than 30 minutes from the time I sent Dr. Philipson an email I received a response. As I was reading the email, I received a phone call from the University of Chicago Hospital, it was Dr. Philipson. I was blown away! He asked how I knew to contact him regarding Cameron’s test? I said I didn’t know, only that I had read an article about a little girl named Lilly Jaffe and saw his name in the article.
Cameron became one of the first of only a handful of people in the U.S. to be diagnosed with neonatal monogenic diabetes. He is the only person in the state of Alaska with monogenic diabetes.
With Cameron’s diagnosis confirmed, Dr. Philipson contacted Dr. Hattersley in the U.K, the leading researcher in the field of neonatal monogenic diabetes, to verify what he suspected – that Cameron had the type of genetic mutation that should allow him to transition from insulin to oral medication.
Waiting for their reply was the most exciting (and terrifying) night. In the morning, I jumped out of bed ran to the computer to check my email. I remember that day vividly. I saw the email, scanned it quickly, and began to cry. Cameron did indeed have the genetic mutation that responds to oral medication. He had a different type of genetic variation than had previously been treated in the U.S., but there were cases in the U.K. that showed oral medication had been successful with Cameron’s type of genetic mutation. Cameron has a genetic variant in KCNJ11 V59M. The V59M indicates developmental delays.
In Chicago, Cameron was transitioned from insulin to Glyburide, an oral sulphonylurea, which he now takes three times a day. I thank God for this miracle. It was an answer to my prayers. Our lives have changed dramatically – no more shots – no more worry – no more carb counting – no more waking in the middle of the night in a panic about his blood sugar. Cameron is now insulin-free.
I often think back to that day when we left Providence Hospital in Alaska with our five-month old newly diagnosed diabetic son, and a nurse stopped me on our way out. She said “remember to be a parent and not a pancreas.” At the time, I had no idea what that meant. Now I know.
*This story was originally published in April 2010.
For more information about monogenic diabetes see:
I would be remiss to not totally thank my sister, Amanda Teague, for helping us during the time Cameron had Type 1 Diabetes. She was there in the beginning and helping me give insulin shots and test blood sugars. I say helping me because it was terrifying for me. Cameron’s father, Geoff Lundfelt, was amazing. This article was written from a mother’s standpoint. It doesn’t do justice to the fact that it’s not just mothers who struggle, but fathers do too and the family as a whole. This article is simply one mom’s struggle and stumbles.
My daughter was diagnosed at 15 months, but had shown many of the markers previously, like acetone breath, months before her diagnosis. I am having trouble finding a lab who will perform these tests, can anyone help? I have been trying to do this test since 2006, when I first heard of Lily Jaffe. Please help…She is now almost 11 and I too have quit my job and know the hardship of this illness not only on tje child but on the entire family.
Cameron is my nephew. I live in a Chicago suburb and when I read the article on the front page of the Chicago Tribune, I immediately emailed a link to the article to my sister, Joan, Cameron’s Grandmother, and she immediately sent it to Alissa. I had remembered when Cameron was first diagnosed, Joan had contacted all of her 11 siblings, asking about any knowledge we had about endocrine disorders in our family history. We knew of none and it was the same on Alissa’s side of the family. So the article made sense to me that this could potentially… Read more »
I must also respectfully disagree with Dr. Gutierrez and concur with Christy and Michelle. Cameron’s type of monogenic diabetes results from a specific mutation in the channel that sulfonylureas like glyburide interact with, as though glyburide was specifically designed for Cameron and others like him! We know very well that this situation is strikingly different from the type 2 diabetes that Dr. Gutierrez probably sees in his office all the time, in which glyburide may not be effective forever. In contrast, all our patients are still doing remarkably well as much as 6 years later, with one case that Dr.… Read more »
Dr Gutierrez, I have to agree with Michelle. My son has been on glyburide for over 3 years now and has shown no sign of it becoming ineffective yet. I believe (through my own research) that the patients in the study in the UK have been on sulfonylureas for over 6 years now. I even read a research paper that talked of a young man with transient Neonatal Diabetes who has been on sulfonylureas now for over 10 years since his TNDM came back (at the age of 15). I’m not sure what your definition of a few years would… Read more »
Dr. Gutierrez, it may be that our children with monogenic diabetes still have a genetic mutation with its own effects. But our children are anything but sick. I assure you they are healthier and happier than many children without gene mutations. While it is true that glyburide has a limited efficacy, that is only true for people with Type 2 diabetes. Since monogenic diabetes is so recently discovered, it remains to be seen how long children (and adults) can take it with results for monogenic diabetes. My daughter has been taking glyburide for over two years now, still reaping the… Read more »
This is a great piece and very informative. I’m so glad to hear that things have stabilized with Cameron.
An amazing story. As you adeptly pointed out in your writing above, diabetes is a loss. Sometimes we are so busy trying to manage the disease, we forget to grieve, and miss out on the process.
Thank you for shedding light on yet another form of diabetes, (types 1,2,3, gestational, pre and double) now monogenetic diabetes. This piece deserves wider coverage so expecting or new parents have the opportunity for awareness. Best wishes to your family and especially, Cameron!
elizabeth @ http://www.diabetes24-7.com
If the child is requiring glyburide three times daily he is still sick and the genes are still in abnormal state. The efficacy of glyburide has a limited duration of only a few years. He needs therapy which will epigenetically reprogram his genes. This therapy is available and safe yet not proven by extensive clinical research.
Great and powerful essay. It’s articles like this that make me love A Sweet Life.