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Call the JDRF Monogenic Diabetes Hotline: 1-866-780-0096
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Cameron Lundfelt was just five months old when what seemed like a mild cold quickly turned into a devastating diagnosis: type 1 diabetes. All of a sudden his breathing became labored and his parents decided to call a nurse hotline. The nurse had Cameron's mom, Alissa, hold the phone up to his mouth so she could hear him breathe. She then told the Lundfelts to get to a doctor right away.
"By the time we got him to the emergency room he was nonresponsive," Alissa remembers. "He was severely dehydrated." It was December 2004.
At the hospital the nurses kept asking Alissa and husband Geoff if they had a history of type 1 diabetes in their family, which they didn't. The problem was, Cameron's blood sugar was so high they couldn't even get a reading on site, so his blood had to be sent to a lab before they could figure out what was wrong. Later that night they discovered his blood sugar was 747—and determined that he had type 1 diabetes.
The Lundfelts, who live in Anchorage, Alaska, had a very difficult time adjusting to life with diabetes. "I'm deathly afraid of needles and I was terrified of giving him shots at first," Alissa says. Not surprisingly, they had trouble controlling his blood sugars from the beginning; they were "all over the place." And perhaps even more unsettling, Cameron began to show developmental delays over the next several months.
"Everything just took him longer," says Alissa of Cameron's development. "He never crawled or climbed as a baby. I was sure it was related to the diabetes, but the doctor kept telling me it wasn't." She did a lot of online research to try to find some evidence to substantiate her concerns, but found nothing.
In the meantime, Cameron began seeing a string of specialists in Anchorage. His pediatrician then asked Alissa if she wanted her son to see a geneticist, and she said yes. "We didn't know a thing about monogenic diabetes back then, but we had Cameron tested for a gene mutation," says Alissa. That was in September 2006. Eleven weeks later they got the results back: Cameron was positive for the mutation.
Unfortunately, Alaska lost its only pediatric endocrinologist during that time, so the Lundfelts didn't know what to do once they got their results. Another pediatric endocrinologist was scheduled to be flown in from San Diego every three months, but it would take a while to get her up to speed on Cameron's situation.
Then in December 2006, Geoff's mother spotted an article about Lilly Jaffe and sent it to Alissa, who wasted no time investigating it. "I e-mailed Dr. (Lou) Philipson right away," she says. "He did his own genetic test on Cameron (via mail) and again the results were positive." The Lundfelts made plans to travel to Chicago during the first week of February.
In Chicago, Dr. Philipson confirmed Alissa's beliefs when he diagnosed Cameron with an especially rare form of monogenic diabetes (called the DEND syndrome - KCNJ11 mutation) with developmental delay. It was first described by Dr. Andrew Hattersley, who had published about three cases with exactly Cameron's mutation by then. The mutation involves the same gene as in Lilly's case, but a different spot on the gene.
Cameron was quickly weaned off insulin, and as of February 10, 2007, he is no longer insulin dependent. His treatment now involves taking glyburide pills three times a day with meals. Not only has his blood sugar improved, but he is also making great strides in his development. "Completely amazing" is how Alissa describes the change in her son. Now almost 3, Cameron didn't start walking until 16 months of age and had very little muscle tone. He couldn't jump up and down until just recently. Although he still doesn't speak, he does communicate through sign language. Most recently, he is walking up and down stairs and is so happy he giggles in his sleep. The doctors are not entirely sure how much of his progress is due to better blood sugar control and how much is due to the medication itself, as there are so few patients to study at this point.
Alissa wants parents to know that it's important they trust their instincts when it comes to their children. "If you know there is something wrong with your kid, keep looking, and eventually you will find the answer," she says. "I knew Cameron's developmental issues and diabetes were associated. People tried to tell me he had autism, and lots of other things, but I knew that wasn't it."
The Lundfelts couldn't be more thankful, especially to the researchers and doctors who made Cameron's transformation possible. Alissa says she wants to do everything possible to let people know that monogenic diabetes exists. "To be honest, we would probably still be stumbling along if not for the article about Lilly Jaffe. We'd still be trying to figure it out."
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