Three-dimensional molecular structure of a telomere (G-quadruplex).
Today Dr. Tomlin confirmed the suspicions of the staff at The National Institute of Health (NIH) in Bethesda, MD, that I have a very rare underlying genetic abnormality called TELOMERE DISEASE
. This strange and highly rare disease duplicates your Telomere's at a rate of 2x-?x, which determine how fast you age by duplicating down to Zero, which is when you die. This disease is also known to cause Aplastic Anemia, Pulmonary Fibrosis, and brain damage. The NIH has recently started a study on those who have Telomere Disease, and I will most likely be participating as long as another complication doesn't stop me from doing so.
Dr. Tomlin informed me that compared to a normal 30 year old man, which I am 30, but not normal :-), my Telomere Length Was Substantially lower. That means that my Telomere's are duplicating much faster than they should. Depending on how quickly they are loosing genetics and getting closer to the end of their 0 day. Soon, as my Telomere's are counted correctly, I will know the approximate date of my death, Day 0.
Here's a better way to phrase it from Wikipedia "DNA sequences are lost every time a cell/DNA replicates until the loss reaches a critical level, at which point cell division ends." CODE: When cell division ends, anyone with the disease just ceases to live. Just like that... the clock runs out. It makes you want to switch to a whole foods and healthier diet, doesn't it?
So now we just have to wait and see what affect this is going to have on how my doctor's at Moffitt continue with my transplant. I'm assuming my Head of Transplant Team, Dr. Perez, can find a solution, or figure out what complications could be caused and work around them. Only time will tell. My next appointment with her at Moffitt is October 25,2012.
Unless something happens in the mean time... I'll write more then...
Sometimes there just seems like no end to the suffering some of us have to bear. But I would rather bear it myself, than a child, or a pregnant mother, or someone who it might just be too overwhelming for them to handle. I know I can handle it, no matter the end. I've been through all this before. I'll keep fighting until my last Telomere burns off in a single flick of God's mighty finger, and I'll be released from this human body to wander the galaxy as something other than human, but a spirit indeed.
Human chromosomes (grey) capped by telomeres (white)
My day started off this morning at 6:00 am ET, which you can tell I wasn't too happy with. However, it had to happen. Brook and I went to the Moffitt Cancer Center and arrived in the Bone Marrow Transplant clinic. Let's see what my blood results are for today? Crappy. Crappy Crappy & Crappier. So my physician ordered 8 units of platelets to bring my counts up from 11k to 96k. The reason for all this you may ask? Teeth. I have several teeth that have been damaged by different medications, my long lasting anemia, and from erosion from my more frequent bouts of trying to set some sort of record for most vomitous person of the year.
Today I'm getting three teeth pulled, with more to come on Friday. Why you may ask? Because in order to be completely safe and ensure that no infections could enter my blood stream through cracked or badly eroded teeth, any tooth that looks like it might cause problems must be pulled to reduce my risk of infection during my BMT. There's no other ways around it. If I got a tooth infection while my immune system was destroyed, I would die in a matter of hours. It's just not worth the risk.
After my dental appointment, I didn't want to do anything but sleep, so that's what I am doing. Goodnight!
Today my wife and I traveled almost 1800 miles to visit the National Institute of Health in Bethesda, MD. We were invited to become part of a study based on a newly recognized genetic disorder called Telomere Disease. The NIH had scheduled us weeks in advance for a Bone Marrow Biopsy to look for signs that I might have Telomere Disease
When we first arrived, we were asked to step out of our vehicles while 4-6 guards searched our vehicle top to bottom inside and out. We watched this process as we were searched and then asked to verify our identity so we could be given a visitors pass. The facility was highly secure! At least I knew I wouldn't be getting a sneak attack by anyone the day we were there.
After we arrived, we waited and waited and were finally seen by a preliminary team of professionals, including Dr. Tomlin and Dr. Perez to discuss the disease, the way it can affect people, the signs and symptoms, and much else. The next step was then to take me upstairs for the Bone Marrow Biopsy. Brook and I both followed the nurse escorting us to the biopsy procedure area. Brook had decided to watch after much prodding from me, a decision I would later regret.
Once I was laying flat on my back, the smallest most petite woman in the room gives me local anesthetic and then starts abruptly pressing the drill into my bone on the right side of my hip. I was having an internal freakout. Not a normal freakout, but a major meltdown freakout. This tiny little Dr. could not manage to even get the needle started into the bone. She scraped, and pounded, and put all she had into twisting and turning, but did nothing more than make me want to escape. Finally after 15-20 minutes of grueling, intense, drilling, the main physician steps in and takes the needle from her and then he spends another 15 minutes getting down deep enough into my bone to collect a sample. Did you know that local anesthesia does nothing for the pain inside your bones? Well it doesn't. I felt every excruciating pain from the time that they entered the bone to the finish. By the end could see why they do such a thorough search for weapons... :-)
Then everyone who had gathered for the show dispersed and we were left alone getting sutured up. That was it. That was the big party we drove 1800 miles for? It was not the best visit to a Dr I've ever had. The Telomere research team was amazing and knew what they were doing. The Dr in training who weighed 90 pounds needs to realize that she's just not built to do a biopsy on a 200lb man, and the primary Dr. looking over her should have been intelligent enough to know that and spare me.
Just my opinion if anyone is listening...
Ever since my ATG Cyclosporine therapy in 1999 when my treatment nurse accidentally overdosed me on Prednisone Steroids (Gave me 1000 mg over 1 hour instead of 100 mg over 10 hours) I developed Avascular Necrosis in both my hips, and also had some cirrhosis in my liver. In order to be cleared for transplant, all my organs needed to be checked for fitness.
Today in the time just after noon, a surgeon entered my neck and ran a probe down into my jugular and then into the main artery headed to my liver. Once in the liver they performed a biopsy from different locations in the liver, and then closed me up.
GOOD News! My liver cirrhosis that I have been living with for over 10 years now, was not present
in any of the liver biopsy samples. Thank you Juice Plus
for that win!
My liver is now cleared and we can proceed testing the rest of my organs!
On the agenda for today?
An ultrasound test of my kidneys, liver, and heart.
Once we arrived at the hospital, all I remember is being stuck to myself everywhere by a slick blue gooeyness. The Ultrasound of my liver and kidneys went great. No signs of issues, and now we can check those of our list of obstacles in getting my transplant on time.
My Echo, or EKG, was no big deal and showed that my heart is big, but now swollen, and operating normally with a small amount of backflow. I guess you'll have that from time to time.