I hate that I know how to spell Adrenoleukodystrophy and know words like phenotype and chimerism. I hate knowing the difference between stem cell transplantation and gene therapy. I hate that I know dozens of mothers who have watched their sons suffer for months, losing all their abilities before this hideous disease stole them completely. I hate knowing that the disease that has effected every inch of my son’s life may start progressing in me.
I hate ALD — every little part of it except for one. The people!
I just spent two days surrounded by ALD parents, patients, researchers and doctors at the ALD Connect Annual Meeting and feel overwhelmed by the love and support that filled the room. I’ve walked way feeling extremely lucky to be part of this community.
I talk about our duct tape a lot on this blog. Duct tape representing the people and things that have helped hold us together for the last eleven years. We would not have survived without our friends and family and teachers and doctors and therapists and nurses and dinners and wine. We’re so grateful and now we are adding our ALD family to the mix. At this point in our ALD journey, being part of this community is helping us take back some of the power the disease stole from our family.
The ALD Connect Annual Metting is all about learning and sharing. I have notes about different treatments and potential therapies that may lead to a cure for ALD. I listened to how other counties are battling our disease. I heard about the remarkable momentum of newborn screening. I heard countless stories of strength and courage. I learned diapering tricks that made some people at our table cringe, but I can’t wait to try out. I shared Jack’s story, spent time with people I’ve known for years and met many who are new to our community.
Thanks to newborn screening, there is a new, quickly growing group in our community. Young families that have just learned of the disease and that their children have the mutation. These families have been thrown into our world and are holding on tightly to their beautiful children as they learn how to monitor and plan for a disease that MAY effect their child sooner or later.
Sitting in a room with parents who have lost children, parents whose children have survived treatment with varies amounts of success, and patients who are struggling every day with symptoms of the disease — I kept going from feeling sorry for these newborn screening parents to being painfully jealous of them.
When Jack was young and healthy, we had the luxury of just living. I can’t imagine having known what his future would hold. All the worry – all the planning. But, the benefit of having the knowledge that an early diagnosis provides, allows these families to prepare for the onset of the disease and will likely prevent following the same path that so many of us have been forced to follow. For two days I kept reminding these young parents that their stories will be different. They have the power in their hands to have treatments ready when/if their children need it. I also kept reminding myself that we can’t change Jack’s path, but if we can help others, we’re kicking ALD where it hurts.
Dan, Jack, Nonno and Mymom came down to join the Smiles and Duct Tape Book Club. I got to share our family’s story and it turned into a wonderful opportunity for many to share their own stories. Jack – as always – was a huge hit. For a kid with a lot of challenges, he always seems to have everyone around him smiling. Anna met me as the meeting was winding down, but she got to hear some remarkable presentations that further encouraged her to study hard and keep reaching for her goals.
I’m a little exhausted and need to make sense of my notes, but I’m already looking forward to the next excuse to spend time with our ALD community.
Thank you ALD people — I hate our disease, but I love the people!!!
PS I was telling a friend about all the amazing people at the conference and kept referring to the newborn screening parents as the Newborn Housewives. My love of Bravo is ever-present and trust me — these ladies (and gentlemen) are as real (and amazing) as they get!!!