Needles, and doctors, and hospitals oh my!

Well I decided to go ahead, and get the medical post out of the way. This will probably be long.   

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It is caused by the body's inability to break down certain elements in the body called mucopolysaccharides (mew-ko-pol-ee-sak-ah- rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAG. The buildup of GAG is due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms.

In the past, the management of Hunter syndrome was limited to palliative care. ELAPRASE® (idursulfase) is an enzyme replacement therapy designed to treat the underlying cause of the disease.

    I was diagnosed with that when I was around 3-4 years old. However Hunter syndrome is not the only thing that I had, or have going on, I had an Aortic and Mitral valve leak, as well as an enlarged heart on the right side (still have some heart issues), enlarged liver and spleen, carpal tunnel in my hands which made them curled, hearing loss in both ears, Low platelet counts, sleep apnea, multiple hernias, severe ear infections, and a decrease in my walking ability.

    For a while I had to get platelet infusions, those were a nightmare, it would start with us getting to the hospital, then someone would prick my finger for blood, and we would wait for the results. If the count was over 20,000 we were free to go home. However, if the count was below 20,000 (which it normally was) we had to stay and get the platelet infusion through an I.V(a needle).  About two hours in I would start getting cold, then I would be shivering, shaking in my seat. Then massive head aches that felt as if bricks were falling on my head would come. Finally the nurse would give me something, and I would be asleep for the rest of the day.

    When I was about 9 we got a call saying that I had been chosen as one out of twelve kids in the world to be apart of a clinical trial for a new drug that was supposed to help with Hunter syndrome (Thanks to God I was one of the lucky few that got chosen!). Every other week we flew to North Carolina, Chapel Hill, so that we could be in the double blind placebo. After a couple of months we started seeing results, my liver, and spleen started going back to normal size, my heart stabilized (we had been talked to about heart transplants prior to beginning the trial). During some of hose trips instead of only staying two days just for the treatment we would stay three days, and it would include sleep studies, blood work, pulmonary function tests, five hour MRI, physical therapy, EKG's hearing tests. About 4-5 years later we were able to go to chattanooga, TN, at T.C Thompson children's hospital a satellite hospital where we moved treatment from every other week to every week. This resulted badly with some leg pains after treatment. We moved it back to every other week, and things returned to normal, however a couple years after, we switched back to every week, and this time no problems arose. I still currently go to treatment every week on Thursday. (The drug eventually went on the market for sale and was officially named Elephrase, at a price around 10k a dose)

    The treatment process is that I get up early every thursday morning 7am, get ready, and then head to the hospital. There I sign in, the nurse calls me back, takes my vitals, and lets me go to my room. Once I'm there they call the pharmacist, and he mixes my medicine (they won't mix until they get word that I am there). then they will stick me in my chest where my PORT is, and then the medication process takes four to six hours. Usually I just watch TV or sleep, theres not too much really to do. Then when its all over I get to go home, the next day I might be drained, it doesn't happen every time, but there are times that I do get drained of energy, but it only lasts a few days.

    Surgeries, I've had a lot of those, multiple hernia surgeries, ear surgeries (for tubes), two hand surgeries for the carpal tunnel, teeth having to be pulled out, one for getting a "PORT" (a small device in my chest, where the needle goes so that my veins don't bust, which was happening a lot more often, which is why I got the PORT). Now surgeries, are dangerous for me due to my difficult airway intubation, and it has gotten more difficult for them to intubate me with the last previous surgeries (harder for them to wake me up). 

    So as you can see, I've grown up in multiple hospitals, seen multiple doctors, and had more needles than you can count. So now you you have a little but more in depth look at the hospital side of my life, and we have the main medical post out of the way.