It's kind of really annoying to have all of my posts start with "I don't know where to start with this one." I obviously know where I am starting & that is with saying "I don't know where I am starting."
This is interesting. This is real. This is good.
For those of you who may not know, at the end of March I went for a complete genome sequencing. Samples were taken from me, my mother, my father. I knew that the test would lead to things, but I just didn't know what.
Three months had to go by. It took three whole months to get that darn gene discovered. (And 33 years.)
Then, on an ordinary Saturday morning (well not so ordinary, it was 4th of July weekend,) I got the email from my beloved Dr. Kelley.
I've said this many times: There are moments that change your life. I can remember being totally annoyed that we were running late. Lennon couldn't find his shoes. Didn't want to brush his teeth with X toothbrush & I didn't know where Y brush was, wherever we were going, we needed to go. Then it all just froze as I checked my email instead of looking for Lennon's shoes.
I'm happy to tell you...
RAPSN...
CMS...
Son's wedding today...
All I read is I belong somewhere. Holy freaking moly. I belong.
I didn't say a word. Much like the reaction I had when I found out I was pregnant with Lennon, I went over to Dann in silence + shock, and I waited for him to notice. They were in the bathroom. "What's wrong?"
I handed him the phone.
He's a really smart science guy. I waited.
"They found it, right? This is good, right?"
"Blue, this is amazing."
I am not sure, but I think we both might have been crying.
Copy entire email.
Send to family in a dreaded group message.
My mom is the first one to answer:
On his son's wedding day. Such a sweet man.
Ma... did you read the whole message?
Yes.
This is how my lolly has continued to address the discovery. She tells me it is because this isn't the first, second, or third time that she has heard this before. I try to tell her that this is the real deal & that gene sequencing (especially what one I had) cannot be wrong. She will not get her hopes up. I suppose as a mom of a special needs child for over 33 years, I guess I wouldn't get excited. But I'm not the mom. I'm the kid. I am so far beyond excited and hopeful, I could explode!
My sister-in-law was in the drive-thru when she got the message. She immediately started to cry. She's a science gal. She knew this was good.
What IS it?
I have no damn clue. Hell, if I'll ever understand all of it, but I'll do my best to explain it to you (and I'll link you to some useful information.)
It starts out that the gene mutation is on the RAPSYN (RAPSN) gene. This is causing a disease called Congenital Myasthenic Syndrome (CMS) and another issue that still isn't figured out yet, but he knows its mitochondrial.
I'm going to try so hard to make sense (I'm already confused as I'm thinking of how to say it.)
So, okay, RAPSN is a protein that binds good things. (I'm already lost, ha.) My RAPSN is mutated (not working, or missing) from my skeletal muscles. Because they aren't working correctly, the acetylcholine receptor (AChR) basically fire the signal to get my muscles to work and the RAPSN isn't doing its job.
I can diagram a sentence. I can take a blank canvas and make it beautiful. I cannot understand science. So on Friday, 7/28, I said, "so I am going to put it this way and I know it's probably not the same thing but I just need to understand it."
"Go ahead." Doctor said, laughing because he knew it was going to be good.
"So say these AChRs (I call them "Autumn Chmil" :) ) are magnets. And these little blue rapsn are the matching magnets. Is it fair to say that the rapsn magnets aren't working right, so they aren't magnetic, so they aren't catching the AChRs?"
"Yes. That is it. Unlike your magnetic personality, of course."
Could you imagine that this whole time we just had to get new magnets or fix the old ones?!
There is a whole community of people like me. Of people who pretend to tie their shoes so no one knows they need to rest. Of people who have to lie down to put their hair in a bun. Of people who can't brush their teeth without help. There are people who are as equally dumbfounded as I am that they can do something every day for four days in a row, but then won't be able to do it for the next three days, but might have a run of eight good days. Guys, I make sense somewhere.
I found Facebook groups, support groups, what color the support ribbon is, what kind of object is used as the CMS "logo." I found out great stories and I found out not so great stories. In the middle of dinner, I'd ask Dann if X muscle was a skeletal muscle and I'd absorb his answer. A lot of times I'd mumble, "makes sense now." It is absolutely insane.
The heart is not a skeletal muscle. I DO remember I asked Dann that almost as soon as he read the email. For the last few years, I just kind of had it in the back of my mind that I'd die of a weak heart because I have a muscle weakness. It was kind of common sense. But, hot dog, my heart is just fine.
The diaphragm though... well, all of those respiratory failures make perfect sense now. Now when my mom says, "you weren't strong enough to breathe," it makes perfect sense.
The problems chewing. Getting dressed. Buttoning buttons. Scratching my damn face. Keeping my eyes open + trying to stop my eye from crossing when I am too tired. Keeping my neck up when I am unwell. It all makes sense.
So what's next?
Treatments. There are medicines in the states that can & do help. One is called Mestinon. From all that I've read and people that I've chatted to, it has been life changing. Honestly, I tear up when I think about it. Sure, I'd love to be like you, but just to get back to the old me would be amazing. Or imagine me getting to actually dance with Lennon when he gets married. I simply get so hopeful it feels like my heart might burst. Anyway, I have a severe mutation, not sure if I said that already. But I still don't think it's as bad as what some people have. Some people are on oxygen & breathing machines full time, and that's not me. I am grateful.
There is a chance that this medicine might not work. There are other medicines, not approved by the FDA (shocker.) So I guess we will have to drive to Canada. The Botox idea is still 100% on the table. I'll be standing tall and for a long time. I simply can't believe it.
There might even be the option for gene therapy down the road, not too far. I will be the perfect candidate.
Dr. Kelley is eager to begin treatments. Obviously, I am more than ready. He is hoping to get me into the University of Pennsylvania with one of the top neuromuscular doctors there. But he also doesn't want to drag his heels any longer, I agree. There is a Doctor in Minnesota that he knows who is the top doctor for CMS. He just doesn't think it's necessary for me to venture out there. Come football season, I reckon my whole family will deem it necessary.
We will have to have a ginormous party in disguise of a wedding. I'm still stuck on that, only now it's the only thing that plays on my mind when I am going to sleep at night. A nice, normal bride. God. It's just a miracle.
There is also the thirty-three-year history of me. CMS is different for everyone (the logo is a snowflake, PS.) What happens to me may not happen to the other people. That is why this is so tricky to diagnose in everyone. The progress that science is making every day is literally changing my life. CMS on the RAPSN gene is a relatively new discovery and it would not be found without genome studies. Many people I am meeting have gone undiagnosed until much later in life. Some people don't make it at all because doctors don't know what they are dealing with. As I was saying, my doctor has a whole lifetime of history on me. On what worked and didn't work. If nothing else, I will help save someone's life. The universe has almost always been kind to me, it feels good to give back. In fact, as we were sitting at the doctor's office, his colleague joined in and they got to chatting about another case. After some research, it was discovered that the patient had a RAPSN issue too. I didn't understand the jargon, but as it sounded, it seemed like I significantly improved a baby's life and future lives just by handing over my history.
So, I don't know. I want to raise awareness.
I have shirts designed, hashtags created, fundraisers thought of. It's a rare disease. 1 in 500,000 will be diagnosed. If there is more access to doctors and more diagnoses, there will be more people to learn from. More people to learn from equals more data. More data equals more evidence of effective treatments. More effective treatments means less ICU rooms filled with teary-eyed friends and family watching their Wonder Woman rely on a ventilator for eleven days. So please help me spread the word.
This CMS is hereditary. I really encourage you to read the link I will share. Dann has to get tested. If Dann comes back as being a carrier, that would mean any future children he and I would have, would be at high risk of also having CMS. We have Lennon, who is all we ever needed. Lennon is a carrier. I am sad for him. I just hope that if he falls in love with a girl and wants to start a family, she is not a carrier. This is a beautiful life I have, don't get me wrong, but the thought of my grandchildren having this is just as bothersome as when I thought Lennon could. Lennon is perfect. I am grateful.
Here is the link:
http://www.congenitalmyasthenicsyndrome.info
Please read it. It is part one of the mystery of autumn.
It looks like we have quite the adventure ahead of us, but at least there is direction now.
What do you think of #AutumnStrong? Of course, the symbol had to be a snowflake and not an elephant or peace sign, ha.
I'll close with this:
"I don't know, I'm pretty optimistic," Autumn said as the appointment came to an end.
"Good. You should be!" Dr. Kelley said with a smile.
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