Dear fellow St. Luke's parishioners,
For those who may not know, I am a clinical psychologist who works mostly with children and their families. Much of my own charitable giving is directed toward causes that impact children. This year I have become involved in a local fundraiser and would like to share with you the story of a very special boy whose name is Thomas.
Thomas just returned to school like many other 7 year olds. Unfortunately Thomas can only be there for half the day due to his ever-present problems with endurance. Some days he won't be able to attend school at all due to the treatments he must receive for his primary immune deficiency. If you know anything about primary immune deficiency you might be thinking of "the boy in the bubble" - a child who could not venture beyond a sterile environment due to his lack of a functioning immune system. Today doctors treat this condition with IV immunoglobulin therapy - usually given about every month. But Thomas' story is much more complicated than that of most children with this disorder. Thomas is the only known child in the world with both primary immune deficiency and Non-Ketotic Hyperglycinemia (NKH) or glycine encephalopathy (GCE) as it is sometimes called - a rare, devastating and incurable inherited metabolic disease. NKH has a very wide spectrum of severity and many children with the disease do not live beyond infancy. Luckily Thomas' NKH is atypical because it is relatively mild in severity and his early diet was so restricted due to other health issues that NKH symptoms did not surface during infancy.
So why does Thomas' relatively mild NKH matter? Because the IV treatment used to address immune deficiency contains glycine - the very amino acid those with NKH cannot process. Using the product caused Thomas to have an immediate and severe neurological reaction and longer-lasting difficulties in his neurological functioning. As a result Thomas is faced with using another product which does not contain glycine. Although this addresses one problem, this treatment has also caused severe allergic reactions, inflammation so severe as to cause internal bleeding, and cardiac problems. Thomas must have these treatments weekly and must receive them subcutaneously at multiple sites over his body. Last year Thomas missed 68 days of school due to his health issues as well as the time required to recover from treatments. He would want me to tell you that, despite going to school only half-days and missing those 68 days of school, he remains at or above grade level in all academic areas!
Thomas' mother, Kristin, was named Citizen of the Year in Weymouth last year for her work to create an organization that raises money to support and promote awareness and research into NKH treatment - the NKH Crusaders. Unlike other parents who often raise funds to offset their own medical expenses, Thomas' parents have pushed for funds to promote research to help all children with this disorder, even though they work extremely hard to keep their indebtedness to Boston Children's Hospital below six figures. They have been convinced to create a special raffle at this year's fundraiser - the proceeds designated to offset some of their own expenses. You see not only does Thomas struggle with these issues but one of his older brothers does as well. Although Ryan's situation is less complicated because he was not born with the same complicated cardiac and mitochondrial disorders as his younger brother, he struggled for many years with severe infections that did not fully respond to antibiotics. Ryan was only diagnosed after Thomas' difficulties were identified.
Despite all their challenges this is one of the most giving, loving, faithful, and hardworking families I have ever met. When Thomas stops at McDonalds for a milkshake (a treat to keep his weight up) he always brings me iced tea - "because I know you like it". His smile and laugh are contagious and his tenacity and attitude toward the challenges he faces are most admirable. His mother is a fantastic role model - she routinely advocates for what is best for her sons - and will do whatever it takes to ensure her children a long and happy life. When Thomas' older brother Ryan was struggling with his own treatments and was asked what would make things easier, he asked that the family's minister be there to support him through the process.
This year's fundraiser is scheduled for October 14. The one doctor who does research in this area will be attending - and families from around the world will get a chance to speak with him about their children and the best possible treatment for each at this time. Last year 49,000 dollars was raised - the ultimate goal being 70,000 dollars - in order for research on this disorder to continue.
I appeal to you for your help in making this possible, if you feel so moved. I know each of you support many things at St. Luke's and I'm certain you have your own special charities and causes that hold a special place in your heart. But, if you would like to help this young boy and his family, and all the other children with this rare and incurable disease, I will be selling tickets for the event as well as raffle tickets for items offered at the fundraiser - I'll do all the work for you and your presence at the event is not necessary in order to win a raffle item. Also, at this point, if you are a business owner or a crafty person or have some item you'd like to offer to be raffled or auctioned at the event - we are gathering these items together. It's also possible to make a direct donation to the organization to further this important research. I'm including some links if you are interested in reading more about Thomas, NKH, or the fundraiser, as well as contact information for me. I will make an announcement in church when I am selling event and raffle tickets. Thanks so much for your time and attention. And please keep Thomas and his family in your prayers.
Denise (Fox-Barber)
dfoxbarber@comcast.net
781-635-6887 or 781-347-4714 (ext. 2)
http://nkhcrusaders.com
http://www.magicalmoon.org/hall-of-knights/sirthomas/
http://www.wickedlocal.com/weymouth/features/x1111635172/Weymouth-family-s-crusade-inspires-recognition#axzz1YPcR7han
