Let me start with this. I don’t write and share these things for pity, sympathy or compassion. I share this because I don’t want to repeat myself in the next year why I’ll be doing be doing several things. This for disclosure, not pity. I rather earn your respect.
Last week I was in Berlin, the company I consult for, Native Instruments, has offices in Hollywood, but their headquarters are there. I was there on business and as most people have notice I have been bitten by the travel bug, why not take advantage.
While in the office a co-worker notice that every so often I would wince. He asked about it but I shrugged it off. He notice that I had asked for the afternoon of Wednesday off and asked me if everything was ok. But things were not… I asked for it off to visit a clinic. I told him I was a bit ill.
I’ve been ill for sometime now. I’ve disclosed a few years back that I suffer from NASH (Nonalcoholic Steatohepatitis). That is no longer the case. Last year around this time I got a 23andMe DNA sequence test. It wasn’t until Mid-January that I got my results back and I went through them very closely.
I always enjoyed knowing more about the genome and genetics. I remember being in 5th grade talking about it, when the public Human Genome Project started. While my passion for it faded unto the background I never stop looking into the subject. I’m sure if I had nurtured my mathematical and scientific side a bit more I would have done something in those fields. I feel like a part of you in a collection of genetic make up, that in way we might know more about ourselves if we knew more about our genetic construct.
Going over the results, reflected a lot of what I already knew about myself, there were very few surprises except for this, I have Alpha-1-Antitrypsin (AAT) Deficiency. My body does not produce enough of protein that protects the lungs and liver from damage, in my case, the liver (Also explains over developed [enlarged] lungs, hence my fairly large rib cage). Since my early teens, I have been treated for lousy liver. I had a biopsy at the age 14 that confirmed cirrhosis. Every year since then I’ve had regular ultrasounds and liver biopsies. I have changed my diet to control symptoms. One of which is the hardest to control, is jaundice. From time to time my eyes turn yellower than normal. I wear sunglasses to hide the fact. A simple “I’m hungover” or “I have a migraine” staved off people questioning why I wear them inside.
When I saw this result from 23andMe I contacted my doctors and set up our own genetic test. The test confirmed that I did have AAT deficiency. Not only that, but it had progressed quite bit.
There is no cure for AAT deficiency, as of this writing, but there are a few ways of managing it, diet and when it gets worst, AAT protein transfusion. For the past 10 months I have been getting transfusions on a monthly basis. Transfusions do not help your body produce AAT, it just gives some protection from an enzyme. (In the past few years there have been some advancements in the field. University of Mass has conducted trials, were able to help someone produce AAT and helped lung functionality. This is still 10 – 15 years away from being cleared by the FDA, though.)
Luckily I am in a position that I have sufficient means and the opportunity to keep this for a while. There’s a reason why I have been meeting with geneticist in Los Angeles, Chicago, New York, Madrid and Berlin throughout out the year.
There might be a light at the end of the tunnel (a silver bullet of sorts), a liver transplant. Sadly, my family members that are a match are also carriers for AAT deficiency. The only way to get a liver would be for my health to get worst and be bumped up the transplant list. Live liver transplants are possible but I’ll see what comes of it. This of course, would be a last option.
I’m not asking for campaign, #hashtags, money or anything else… I’m just sharing a bit about me. This might help someone else going through the same thing on the internet, I don’t know.
For those wondering (thinking) how it feels, most of time I feel great. Sometime there is slight ache my right side. Then there are times, when it feels like there is a sharp pain. Kind of like someone ripped a piece of my liver out. It’s sudden and it doesn’t happen often but when it does, it hurts like hell, but just for a second, but then the pain somewhat lingers.
There are countless advances in the medical field and I not going to be “oh… woe is me I’m going to die… blah blah.” I’ll do my best to see what options are available… and what it come. I just wanted to give you a glimpse what is happening in my private life.
It seems my idea/timetable of becoming a philanthropist has been pushed up. It’s something I toyed around when at University and was financially stable. Always knew I wanted to work for a cause. Now I have one… in a weird way my life might depend on it.
So yeah… that’s what is happening in the life of Kenn. For some reason I have always been of notion of not sharing too much, not to complain (too much), to be phlegmatic. We’re all surrounded by other people and bad things are also happening in their lives, it’s the human condition. We’re all going through things. We all hurt. Some are just better at controlling the hurt. Maybe I’m just stoic. It seems like I have taken Seneca’s quote to heart.
“The one that carries the burden, must always be stronger than the burden.”