NOTA, The Network of Tyrosinemia Advocates, held their 4th Annual NOTA Experience, a family conference in September, despite the extraordinary constraints of time, a pandemic, transportation challenges, and the special needs of children with a rare, inherited metabolic disorder.
If you are a family dealing daily with a rare condition and you have never been to a family conference read: https://patientworthy.com/2017/09/13/rare-disease-conference-medicine-loneliness/
Then you will know how incredibly meaningful it is to speak with others “just like you.” And let’s not forget the impact of a rare condition on siblings.
Your own trauma at diagnosis, anxieties about handling the daily needs of your child, and your concern for the future are all halved when meeting with others. The practical tips, the mutual challenges, I.e. “my child is sneaking forbidden foods,” and the knowledge that you are not alone are all priceless.
Tyrosinemia type 1 is a rare autosomal recessive condition characterized by the lack of an enzyme FAH to break down the protein tyrosine. If not completely broken down, tyrosine and its metabolites can accumulate in the liver, kidneys, and/or central nervous system. If caught soon after birth through newborn screening, with adherence to a low protein diet, and supplemented by nitisinone tablets, patients can do quite well.
This year’s NOTA conference, while faced with many logistical problems, had the enormous financial support of the two manufacturers of nitisinone tablets, the Swedish Orphan Biovitrum International AB ( SOBI), the originator of the first-ever treatment Orfadin®, and Cycle Pharmaceuticals, based in the UK who manufacture NITYR®. This meant that many families who normally would not have the funds to travel and stay at the family-friendly Rocking Horse Ranch had the opportunity to participate. And these two companies were not the only corporate sponsors. We have to shout out to Cambrooke Aijnomoto, manufacturers of medical foods for their support of the families of NOTA.
Horseback riding, swimming, games, pool, slides, – did they have more than comradery? They had fun! Watch this video to see what joy these families shared. My favorite is the four kids rolling down the hill!
Jon Miller, founder and president of Nota, worked with a committee of volunteer parents to make sure that this fantastic weekend happened. He even enlisted his Mom, Denise Miller a folk singer, to lend her music to the video above. May these children and families thrive! This kind of weekend is indeed worth it all. We declare it #PatientWorthy.
