Our son Christopher has Hyperinsulinism (HI). He was diagnosed at 7 months of age after an observed seizure while we were on vacation in North Conway NH. At the local ER testing revealed his blood sugar level was only 27. The normal range would be above 70. In the ER they kept trying to give Christopher more and more concentrated dextrose via IV to bump up his blood sugar levels to a normal range. After a few hours it became obvious that whatever was going on could not be managed at a small community hospital so Chris was life flighted to Boston Children’s Hospital. We were there for almost 2 weeks waiting to get a diagnosis, it was a very rough couple of weeks. We googled our disease and found 2 very clinical research papers and that was about it. We had arrived in the land of a rare disease and it was pretty scary. Christopher had a moderate form of Hyperinsulinism. We have since discovered that some kids with severe HI are far less fortunate than Chris and that HI was on the better end of possible diagnoses given his symptoms. At the time though, we had never heard of this disease. He was a trooper through it all, with endless needle sticks as he kept blowing out IV’s, insertion of an NG tube and eventually a PICC line placement. Christopher was discharged and has been managed with diligent watching of diet, blood sugar checks, medication and regular checks with his Endocrinologist at Children’s. One of the side effects of his medication is excess hair growth, Chris had a lot of hair all over his body. He struggled with some bullying and self esteem issues when he started school, and he asked to shave his mustache at 6 years of age. In October of 2013 we got to celebrate, big time. We were finally successful in weaning him off his Diazoxide medication. It took about 3 months of gradual decreases, but we were done. Our Endocrinologist had told us this was a possibility by the time he was school age. Chris was a little late as he was 8 at the time. We were ecstatic.
Early diagnosis is the cause we want to fight for as we move forward in advocating for HI. A simple blood test straight after birth would have saved us all a lot of heart ache. Due to the chronic hypoglycemia prior to 7 months, Chris’ brain did not receive the nutrients it needed, and as a result he has some global neurological deficits. At school he has an IEP to help him academically and socially. Making friends is very difficult for him, and he struggles with most social interaction. I think that is one of the reasons we have all enjoyed the RFR team. It’s fun to be part of Phil’s ‘coolest club in town’ and hang with the cool kids. Our Endocrinologist has indicated that Christopher is likely to turn diabetic as a teenager, but again because our disease is rare we don’t know for certain and have heard some conflicting information so we take each day as it comes. We do realize that our problems are insignificant compared to some others in the RFR community, and we are humbled by the stories shared with us. We have nothing but admiration and respect for other families who cope with so much more.
Our personal journey with Running for Rare began with a message from Julie Raskin, the Executive director of our Congenital Hyperinsulinism community.
Julie’s son Ben who has HI was asked to be a patient partner with the team, and when Julie learned a little more and heard where Ben’s runner lived, she asked us if we would also like to be patient partners. This was the message we received:
“Hi Anne, NORD is looking for 1 more Rare Disease family to partner with the Genzyme running team at the Boston Marathon. Our family is participating. I thought of your family. No running involved, just cheering for the Genzyme runner you would be paired with. Genzyme raises funds for NORD and we will be raising awareness of HI. Do you think you might be interested? It could be a lot of fun for the kids?”
It turned out to be much more than just fun for the kids, it really has been life changing for our entire family. Our marathon partner last year was Jen Tedstone. Jen lives in our town of Hopkinton, what a bonus. We enjoyed meeting her whole family, and we have kids of similar ages in the Hopkinton school system. We also got to know some of the other team members and were excited to help out with the charity run on a very cold March day last year, and attend Jen, Kai and Colleen’s fundraiser. We helped with baking for rare disease day and supported the fundraising efforts. It was great seeing Jen running into mile 14 last year like a bird coming into land, arms spread wide, wearing a huge smile. She looked great and she was running for us, for our disease. She took the time to stop, hug us all, thank us for being there and off she went, those pink socks nothing but a blur in the distance.
We all know what happened a few hours later, which only serves to heighten how great that moment was as this group of runners was doing something that was so full of goodness.
“I don’t want anything bad to happen to Jen”. These were Chris’ first words when we heard of the bombings. I hadn’t processed fully the impact Jen had on Christopher. It was very touching. Our little guy doesn’t say much or show much, but there was a heartfelt connection. Thankfully a couple of minutes later we received a text from Jen telling us she was okay. With all she was dealing with in the city, trying to find her family and team mates to make sure they were all well, Jen thought of us and wanted to let us know she was okay. It was a relief to eventually learn that all our team was okay.
This year Christopher was asked again to be a patient partner and we had absolutely no hesitation in signing up. The truth be told, we would have been a little disappointed if we couldn’t have been involved in some way, but to be able to be a patient partner family again was a real thrill. We partnered with Pat O’Sullivan and in February we had a lovely brunch with Pat, his wife Mary and children Dara, Ciaran and Aoife who are about the same ages as our boys. We hit the jackpot again with another great running partner and his family. As you can see from the picture below we got along famously at our first meeting. We enjoyed showing the O’Sullivan family our town of Hopkinton, where it all starts, including the Hoyt statue and marathon start line. We are grateful to all that Pat has done, it has been a wonderful experience for both of our families.
We have some new found knowledge this year with the pre marathon activities. Ed and I really enjoy Trivia nightsâ€¦thanks Pat and Cianâ€¦but we are really crap at Triviaâ€¦sorry about drawing the short straw with us Renaâ€¦but we do like friday pub nights in Bostonâ€¦thanks Kai and Andrewâ€¦and wine tastingâ€¦thank you Marissa…a child can, and indeed will, proudly wear a Running for Rare Tshirt for 5 days in a rowâ€¦thanks Jessiâ€¦Ed cannot be persuaded to participate in karaoke…sorry Jessi and Kelseyâ€¦Amy has magical powers and can organize pretty much anything, really well and at a moment’s noticeâ€¦Phil knows and can pronounce many weird and wonderful rare disease names and is probably the most enthusiastic and inspiring person we knowâ€¦who wouldn’t want to be in his cool club?â€¦and it’s pretty awesome that there is a little bit of Australia in the mix, go Marissa and Shaneâ€¦oy oy oy! Lastly, we now know, but wish we could forget, what mandaids are (insert soundtrack from the shower scene in the movie Psycho).
So Jen and Pat have been our official Running partners, and we love them both and their families. We like to think though, that in our second year with this community we have partnered with more than Jen and Pat, we have partnered with the whole amazing team, runners and other patient partners.
The impact of all these connections on our family has been so positive. This is the part of our story that we want to emphasize, the personal connections that we have made with the team. Being local, we have had the opportunity to meet many of the team and patient partners at pre marathon functions, which has been great. It seemed that at every fundraiser we went to, we met more and more really nice people who we now call friends.
We love that our boys can see first hand how much good a small group of individuals can accomplish in making our world a better place. They are experiencing a life lesson that is priceless. I hope some of Phil’s words at the pre marathon dinner stick with them in the years ahead as there are no finer mentors or role models than the RFR team.
Christopher has stated on many occasions that he is embarrassed to have HI. He is only 9 and has limited insight into his disease. He gets embarrassed when I tell friends about his disease. However, being part of this community has made a huge difference to him. As I mentioned, he has proudly worn the RFR Tshirt for 5 days in a row. We think this is because he is connected to people he now knows better in the RFR community. Apart from a HI family conference we attended in Philadelphia 2 years ago, he doesn’t really know anyone else with HI except for Ben, who he spent time with last year. We also noticed that he was smiling and engaging more during the marathon activities this year. We like to think that this is because he has realized that there are other kids like him who have rare diseases, and that he’s not alone any more. Together we are strong.
So now the 2014 marathon is over, and it really was the most perfect day on so many levels. The energy at mile 14 was amazing. This year we got to share it with Mary and the O’Sullivan family, as well as Jen and her family. Pat was looking great at mile 14! It was lovely to go in to Boston and see everyone post-race, the city was so alive with positive energy. There were some well earned beers consumed that evening. Pat was a fantastic ambassador for HI awareness this year, and we are so grateful for all he has done.
Now for next year, there is a challenge. We are looking for suggestions about staying connected to the team after being a patient partner. How we can continue this relationship? Ed and I and and the boys have been brainstorming and wondered if a family Barbecue or maybe a 5k fun run/walk would work. If anyone has any thoughts or would like to help get something organized please message me. Gail, Laurie, Ed and I would very much like this to be something we can work on going forward.
The Burtenshaw-Johnson clan want to thank Julie Raskin for always advocating for HI and connecting us to the RFR team.
To the whole Genzyme Running for Rare team, we love you all and thank you for all you do and for letting us be part of this amazing experience. It really is the coolest club in town, and together we are definitely strong.
Anne & Ed, parents of Christopher, and Thomas and William.