Friends and family,As many know, John and I have been blessed to be part of Parker’s journey for over 9 years now. Many many many of you have prayed, cheered, donated $ and have generally helped us support TMM. Please take a moment to read Melissa’s status I’ve posted here ( believe me — it’s worth the read ❤️ I still have goosebumps)
Life is full of them, right? I feel like this year has had more hurdles than one should have to conquer in a year. There were days where I was so deep in my funk that I could not function. I could not think. Sadness and depression can be so stifling and suffocating. For months I was mad at the world. I tried my hardest to put on my "Fake it til you make it" face and attitude, and then there were days that I just hoped people wouldn't ask my how I was because there was no fake left. Then one day I finally realized that I was no good to my family unless I made the conscious decision EVERY SINGLE DAY to be thankful for every single day that I do have. And to be grateful for the wonderful blessings that our family has been given. It isn't always easy, in fact, some days it seems like so much work, to be thankful. I'm just being honest here, I don't mean to sound ungrateful. In the days when I just was so heavy with anxiety that I couldn't breathe, I'm thankful that I had a tribe to lean on. To say the last 7+ months have been difficult is an extreme understatement. And I know, I'm not the only one with woes. I have friends who are batting cancer. I have friends and loved ones who have lost loved ones. I have friends who have lost their jobs, their pets, their partners. All very difficult things. And I have so much love and empathy for you.
Monday of this week was just the Monday-ist Monday I had had in a long time. I really REALLY try not to wish one single day away these days. Life is precious and we have become exceedingly aware of that this year. But it was a doozy.
Then Tuesday (yesterday) came along and really, it wasn't starting out to be stellar. I am behind on just about everything in my life. Work stuff. Team stuff. Home stuff. Half Marathon training.....
And then at 1:30 pm my cell phone rang and it was a very familiar number.
RADY CHILDREN'S HOSPITAL.
It was a very unexpected call from Dr. Konersman, one of Parker's neurologists. The one that specializes in the area of genetics. She was calling to give us an update on the potential gene therapy project that she started working on getting approval for back in August. She had just got back from meetings in Chicago with the only pharmaceutical company that can deliver the infusion to penetrate cardiac muscle. There were two different therapy options, if you recall my post from August. One was a one time infusion, costing roughly six million dollars. The other was a therapy where P would have to receive infusions several times a year at the tune of "several hundred thousand dollars per treatment." She told me ahead of time that the probability of getting approval from the Pharma company was not very likely, but she was going to try. Parker is currently the only patient in the world known to need this particular gene therapy.
THEY. SAID. YES.
The UCSD team is already staring the mouse work. There happens to be ONE mouse in existence that has Parker's exact mutation. These odds are a miracle in themselves. They were able to get the mouse donated to the project. Additionally, Dr. Bonnemann (Parker's NIH physician) and his team are also working on a different facet of the project back in Washington DC.
If you are still reading. Thank you.
Part of this project requires that the cardiologist see both of Parker's bio-parents to prove that you can be a carrier of the genetic mutation and not have the disease. Both of his birth parents have been contacted and are more than willing to help. I simply cannot state how THANKFUL we are for these two incredible open adoptions! The fact that we have contact with the boys' bio parents have been integral in so many ways.
We will learn more when we see Dr. Konersman in two weeks. We also have a lot of questions, and we're actually going to start a list.
If this gene therapy is successful it will block his mutation, and basically "fix" his DNA. It will not repair the damage that has already been done to his heart, but it should prevent further deterioration. Also, it could be ground breaking for other congenital diseases.
One last thing. This is just the first (GIANT) step of many. We would still appreciate all of you prayers through every step of this process.