Patient Partner, Christopher Johnson from a parent’s perspective

Christopher with feathery friend

Christopher with feathery friend

Ed and Anne tell their story of ups and downs they’ve faced learning their son, Christopher, has Congenital Hyperinsulinism.

Christopher Johnson is our 8 year old son. Christopher has two brothers; Thomas who is 10 and William who is 6. Our names are Ed Johnson and Anne Burtenshaw, and our family lives in Hopkinton MA.

Christopher has a rare medical diagnosis called Hyperinsulinism (HI); only 1 in 50,000 children are born with HI. People with HI have a pancreas that over-produces insulin, causing hypoglycemia. We usually tell people that HI can be thought of as the opposite of diabetes. If HI were left untreated, it would cause extreme and dangerous hypoglycemia, leading to brain damage, organ failure and even death. Early diagnosis is the key to avoiding these side effects and allowing these kids to grow up to lead normal lives. Some children with a focal form of the disease are candidates for a pancreatectomy, where the area of the pancreas affected is removed. This does however have the potential to render the child an insulin dependent diabetic for life. Other children are managed on medication. These kids need careful monitoring of blood sugar levels to ensure their safety. Some kids with extreme cases of HI are unable to maintain adequate blood sugar levels with food and medication alone and require a feeding tube and pump to ensure they are getting adequate nutrition continuously throughout the day and night.

The onset of Christopher’s symptoms was relatively late as it didn’t occur until he was almost 7 months of age. Prior to then, he displayed no observable symptoms. We suspect that his symptoms became apparent at this time as he was being weaned from breast milk feedings. The less frequent feedings caused his blood sugar level to crash. At that time, our family was vacationing in North Conway NH. We observed Christopher having a seizure. We immediately brought him to the North Conway ER where they ran a battery of tests, including a simple blood sugar test. Despite recently being fed, his blood sugar only registered 27 mg/dl. A normal reading would be more like 80. The doctors soon concluded that for his safety and for further diagnostics, Christopher should be Life-Flighted to Children’s Hospital in Boston. We were at Children’s hospital for 2 weeks establishing a diagnosis. During this time, our endocrinologist consulted with Dr. Stanley at Children’s Hospital of Philadelphia (CHOP). CHOP is the leading center for HI treatment and research in the world, and we feel fortunate that these two hospitals collaborated on Christopher’s diagnosis. When we eventually received the diagnosis of HI, we did a web search about it. We only found a few very clinical research papers. Fortunately, in more recent years we found the CHI support group and now have access to a group of people who are having similar experiences. Together we are able to provide each other invaluable information and resources.

Our family attended the CHI family conference in Philadelphia at CHOP last March. We met Dr. Stanley and the HI research doctors and got to meet other HI families. Even at this late stage and having managed Christopher with this disease for the past 7 years we still have so much to learn about it. Now we are also under the umbrella of NORD (National Organization Of Rare Diseases) which has brought more resources to the HI community.

Fortunately Christopher only has a moderate case of diffuse HI, and is responsive to the drug Diazoxide. Using this drug and vigilant monitoring of his diet, we are able to manage his blood sugar levels in a safe range. Because Christopher had this disease undiagnosed for 7 months he has some neurological impairment. He is able, however, to attend our local mainstream schools in Hopkinton with the specialized services provided through an Individualized Education Program. Every day has a new challenge but as a strong family unit we deal with issues as we need to.

We feel honored to be one half of the HI patient partner team that Jen is running for in this year’s Boston Marathon.

Posted in Patient Stories

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Archive of posts from Marathon runners dedicated to making a positive impact on the lives of people with serious disease.