In this blog I would like to introduce the reader to my family. Needless to say, I am very proud of their advocacy efforts. The first video details the struggles faced by families when modern medicine provides no answers and little in terms of hope. In the case of my grandson, he baffled medical authorities before being the first person diagnosed with a NGLY1 mutation (see Fighting a One-of a Kind-Disease). “It takes a village to raise a child”, is a well known and proven proverb. In our case, the village has been the world available through the internet. A friend once posted, “When parents are given no other option but to create websites and post articles with their genetic data to accelerate research and treatments for our dying children, there is a serious problem with the system”
Several articles have detailed how Matt and Cristina (my daughter) have used crowdfunding to support genetic research and sponsor putative therapeutic interventions. Thanks in part to this model, Matt Might says, “We’ve been able to sponsor a postdoc in Dr. Hudson Freeze’s lab at the Sanford Burnham Medical Research Institute to do basic research on understanding the glycobiology of NGLY1 deficiency and another NGLY1 family is sponsoring an international network of researchers taking a variety of approaches to solve the problem.”
Cristina Casanova Might (my daughter) is the proud mother of 30 children: 3 biological and 27 with NGLY1. Her oldest son, Bertrand was the first NGLY1 patient. In September 2012, shortly after the discovery of the 2nd and 3rd patients with N-glycanase deficiency, she started NGLY1.org as a means of building the nascent NGLY1 community. My daughter is passionate about bringing technology and community together. She believes that partnership between patients, families, researchers and clinicians is essential to accelerate science—understanding, treatments and cures. She brings her background as a former tech CEO to run the day-to-day operations of NGLY1.org. Cristina is on the Board of Directors for CDG CARE and Co-chair for the Public Policy Working Group for the EveryLife Foundation. She serves as Rare and Undiagnosed Network’s (RUN) NGLY1 Chair as well as on the Family Advisory Committee for MyGene2. Cristina holds a BS in Industrial Design and an MBA in Finance and Accounting from Georgia Tech. She blogs at overcomingmovementdisorder.com and tweets from @bertrandmight. She has worked with congress to rebuild and expand the Rare Disease Caucus. For the last 10 years she has been a motivating force to the introduction legislation legalizing the use of marijuana for seizures and the Right to Try medications. Right To Try allows terminally ill Americans to try medicines that have passed Phase 1 of the FDA approval process and remain in clinical trials but are not yet on pharmacy shelves. Right To Try expands access to potentially life-saving treatments years before patients would normally be able to access them.
I am happy to say that, due to Cristina’s efforts, my grandson was the first person to receive approval from the State of Utah to use marijuanna (medical cannabis) for seizures. According to the Epilepsy Foundation: Early evidence from laboratory studies, anecdotal reports, and small clinical studies over a number of years suggest that cannabidiol (CBD) could potentially help control seizures. Research on CBD has been hard to do and taken time due to federal regulations and limited access to cannabidiol. There are also many financial and time constraints. In recent years, a number of studies have shown the benefit of specific plant-based CBD product in treating specific groups of people with epilepsy who have not responded to traditional therapies.
In a previous blog I spoke about my grandson: There are many happy memories about Bertrand that I would like to share with the world and maybe this has been the reason for my blog today. I have learned a lot from my grandson. He is low-functioning autistic and non-verbal. Instead of verbalizing his thoughts, he creates guttural sounds. In many occasions his sound makes for a happy song, for in the face of adversity, Bertrand has been a happy child. This is the way I remember him.
I can’t express more admiration for my son-in-law and my daughter. Every day they surpass my expectations. Humans are primarily storytellers. The stories we tell ourselves are the lines that we live by. If you say to yourself that you are unlucky and unworthy you will live your life being depressed and lacking control of the same. So we have to be strong and stress the positives in our lives and those of our dear ones.
A person facing a tremendous life adversity could not be blamed for cowering and blaming God. However, my daughter and son-in-law have used all of their emotions to make Bertrand’s life be a positive. They created a foundation, established research, and collected a cohort of similarly affected individuals that is now being studied by the NIH. They decided that Bertrand’s life had a purpose.
In all of our struggles my family feels eternally thankful to have met so many wonderful and supportive people. Many of them have had their own cross to bear but they have done so gracefully and with humanity. In a passage from the Bible the disciples asked Jesus about a man who was born blind, and Jesus answered, “so that the works of God might be displayed in him.” Indeed Bertrand has been a miracle that has been loaned to us. And we all feel grateful for it.
On a blog post from 2011, Matt ended with a promise he and Cristina made to Bertrand: “Of course, we will do everything possible for him. And, if that fails, we’ll try the impossible.” That’s the power of a parent’s love, which often transcends the power of medicine.