Barely 5 months since their last surgeries to correct their lower legs, and we are already facing the grim reality of more surgeries. This disease is brutal. It tests your resilience and faith over and over again. You build up just to be broken down again! No matter where you rod the bone, you just can't "stop the disease from progressing". If we don't intervene, the bends will cause other areas to bend. These two are all smiles, but they know once again they are going to "have to be strong", "brave" and other loaded words they are really tired of hearing. We are rushing to put in our IND (Investigational new drug) application with the FDA. We have the best team in the world working on it. We are really exhausted, but the dream that this nightmare will end soon pushes us forward each day. #UrGoingDownJansens #IHateYou #CuresNow #EndThisNightmare
The boys are at the infusion center today and tomorrow. We are trying a different bisphosphonate to see if has a lasting effect on the boys' blood calcium levels. Jahan's having a rough time with the pokes. While everyone was telling him to be a big boy, Arshaan had some words: "He doesn't have to be like the other kid (referring to a younger boy with OI who had an IV in with no trouble) He doesn't have to be like me. Jahan's his own guy, mum. And it hurts him." I think I needed to hear these words just as much as everyone battling a difficult medical situation . We are always comparing kids, comparing diseases. He has it worse or we have it better. You can't quantify suffering or pain. Definitely not to a 7 year old. Lesson learned for today! #9GoingOn90 #JansensDisease #WiseWords #LifeLessons
It was one slide that changed the course of our diagnostic odyssey. One slide of an xray of a jansen's patient that Dr. Sheela Nampoothiri remembered from her college days that led her to diagnosing our family. One slide that gave us the answers we were searching 32 years for. Yesterday, the research students at Harvard Medical University got the opportunity to uderstand the impact of one slide in the lives of rare disease patients.. I'm sure their lives will be forever changed. #musculoskeletal #research #hope #onemoment #lifechanging
Truly an honor to be speaking at Harvard Medical School today #BucketList #TheJansensFoundation #rarediseaseadvocacy
What a wonderful morning! 2017 saw us make amazing progress towards getting funding for Jansen's disease through the NIH. We are now pushing for the next stage - clinical trials. We spent this morning chalking out the next steps. The mood in the endocrine unit at Boston Mass General and Harvard is beyond hopeful! We are really very excited for what this year will bring for cures for Jansens. #teamjansens #thejansensfoundation #ClinicalTrials #nextsteps #strategizing @nadiabodkin
Kickstarting the new year with renewed energy and faith! Taking a break from a very productive morning of strategic meetings at Harvard Medical School with the Jansen's Foundation's Corporate Manager, @nadiabodkin
Disha Shetty is a freelance science journalist.