Global Genes, Basketball Dreams
It‘s that time of year again.
September 2017
Global Genes Rare Patient Advocacy Summit
I go every year. This conference is my favorite place to be someone who was born sick. You can watch the videos here.
This sums up the mission of Global Genes:
Good mission.
Those of us with rare diseases have so much in common. We need to band together, make ourselves heard and push for effective treatments. Can I get an “amen” from the congregation.
Opening talk, Global Genes, 2017 at Hotel Irvine in Orange County, California.
I got in line to ask a question. It is not everyday you get to speak to someone from Illumina.
My question is...
Illumina is the top genetics lab in the world. Three years ago, Illumina told me not to get a whole genome sequence. They estimated that they could do no better than my whole exome study: cause not found, because too little was known about the intron area. That is the junk DNA, which appears not to be junk at all, but to regulate how genes are function. So, if you are like me, and all your (known) collagen genes have been sequenced and are coded correctly, maybe the problem is .... in the intron area!
Every year at Global Genes, I track down a scientist to ask about the intron area, and how the research is going.
Guess what I asked that morning?
I didn’t get to ask. He answered while I was waiting. I sat back down.
They are finding more causes of rare genetic disorders in the intron area. Yay!! It’s not a super high success rate, but they are finding problems there. Yay!! I am that much closer to a cause found. Can I get a “hallelujah.”
Another incredible Global Genes.
I go to Ehlers-Danlos conferences to learn about my disease. I come here to learn the latest of what is going on at the FDA, the NIH, genetic research, with the treatment of rare diseases, and to meet people who are living with the same unique challenges that I am: life with a life-limiting rare genetic disorder, as 80% of rare diseases are rare genetic disorders. And only 5% of rare diseases have an FDA approved treatment. We need to change that. That is why I come to the Global Genes event.
The first time Mr. Pennington came with me, he spent the entire second day weeping. I could not believe it. He was crying because he felt acknowledged as a caretaker. He really needed that. There are a lot of healthy, feisty caretakers here telling their stories, too. I had not known he needed to connect with them. Caring for someone with a life-limiting illness is unique, rewarding and spectacular. I will say that Mr. Pennington’s life does not lack for meaning. Wouldn’t lacking for meaning and purpose be the worst? Just after a life sentence of intractable pain and unrelenting fatigue from your genetic flaw, because that is undeniably pretty bad.
Now, Mr. Pennington is really into the science at this conference. He understands me and my disease better. And, we are both on the lookout for solutions. He says he is sorry he did not understand better before, what it means to have a rare genetic disorder. It is an amazing and type of disease. Fascinating.
Getting our science education at Global Genes.
I think everyone ends up crying at some point during Global Genes. It is a very special event.
I've been crying my eyes out.
I had been sobbing for a good 45 minutes before we took this picture. Luckily there were no bright lights in front of this step-and-repeat. I had been forcing my tears back inside for two days. Why? I had met people who touched me so deeply, who had struggles similar to mine, who know the profundity of being told their condition is hopeless yet still appreciate the adventure of being alive.
Also, I was blown away by the advances in treating genetic disorders. Ah, the hope! And then I had a wonderful exchange with the doctor from the NIH. Oops, there the damn burst.
We could not stay through Saturday night for the big gala at the end of Global Genes. We had to rush back to Los Angeles.
We had big plans on Sunday.
Other dreams.
Blake, I'm here!!!!!!! At the Clippers Training Facility!!!!!!
We got to work out at the Clippers facility in Culver City, with a Clippers coach. It was awesome.
Blake was not there, but this is where he comes to sweat, so I was close. The coach told us all about fixing Blake’s free-throws. W-O-W. Blake you are doing much better with those, and the team is looking better without CP3.
Whoops. Player down. Pulled calf muscle, not a sprained joint, how about that! I guess I was not ready for all those lateral moves. I limped off the court just like a real basketball player. It was awesome.
I was not sure how long my injury would take me out of the game of life. My leg was a little sore on Monday, but I managed my long walk to and from the LA Metro stop to my Japanese class just fine. I wore my full length compression stockings (I love me some granny hose!), did my usual C shots, iced my leg few times, and was back to lifting weights and TRXing by Tuesday. I have a long-term situation with weakness in that leg, that I must address better, which I did later by walking and running on the sandy beach to encourage the muscles in my lower legs and feet to get to work. I also found this fantastic foam roller that relieved the knots in that leg that were preventing better function. (I will write more about the importance of foam rolling and soft tissue health later.)
The C shots make me recover and heal. Because of them I benefit from rest and sleep. Before them, no. Before them my life was intractable fatigue, hypotonia, exercise intolerance, insomnia, misery, feeling too bad to tolerate being alive.
It is good to be alive.
See you at Global Genes next year?
