As I've said on previous posts, I want to start to build a more complete picture of the story of Hermansky-Pudlak Syndrome or HPS. To do that, I want to include stories and comments from a variety of people from the HPS community. To that end, here's an autobiography written by my friend Karen about her life and how she came to be diagnosed with HPS. The picture of Karen was taken when we were in the hospital together at the National Institutes of Health (NIH) to undergo a lung lavage for research. Karen's daughter has a tradition of sending her mother off to the hospital with a companion. This time, it was the elf. Hi, I'm Karen Tillman and this is my story. I am starting at the beginning of my life, as that is where it begins. You will soon see however that the journey to my diagnosis has been long as I was only diagnosed with Hermansky Pudlak Syndrome in 2002, and yet have had the disease since birth(1964). I hope that you will find this story both interesting and enlightening.
I was born in the small town of Reidsville, NC. My dad took one look at me and said that there is no way that I could be his child because I was so different from my other siblings. They were all born with dark hair and dark skin. And here I was with white hair, pinkish eyes, and very pale skin indeed. The doctors and nurses of course assured him that yes, I was his, and that I was an albino. They basically told my parents just to keep me out of the sun, but otherwise I should be ok. For many weeks I was rather unresponsive to things going on around me, and my dad thought I was completely blind, but one day I cooed at a light and my parents were delighted. However it was obvious that my vision was bad. (I would later be diagnosed as legally blind). A few months after that incident every time I came in contact with bright sunlight, I would scream and cry (the sunlight hurt my eyes). Needless to say I became the coolest baby in town, as my mom bought me sunglasses at age 6 months or so.
As time went on things seemed ok until I turned 9 years old. At age 9 I started developing horrible stomach cramps, vomiting, bloody stools and diarrhea. For several months we went to the doctors in Reidsville, but I kept losing weight, and wasn't getting any better. They couldn't find the problem. So, my parents took me to a pediatrician in Greensboro, NC where the doc took one look at me and immediately admitted me to the hospital. I was there for at least a month with doctors from everywhere coming to visit me. Their conclusion was that I had Crohn's disease.
From age 9 until age 13 I was in and out of hospitals, getting numerous transfusions because I would bleed so badly. Until one day I had such a bad episode that it scared the doctors and my parents to death. I had blacked out in the bathroom at home, came to, and my mother said that I was as pale as a ghost, and she had someone go get my dad out of the field and they rushed me to the emergency room 30 minutes away. When I got there they gave me 5 units of blood that night because I had lost so much blood. Apparently I was pretty lucky to have been alive. Thankfully there were pastors of several different churches giving my parents support and praying for me to be ok. It was then that they decided I needed to have surgery. They removed my colon and I wound up with an ileostomy. An ileostomy is where you wear a pouch on your side, and that is where your stool is stored until you go to the bathroom and empty the pouch. For someone age 13, you would think that it would be traumatic, but I just wanted to get better, and for many years the ileostomy served me well.
The next phase of my life was interesting as well. Due to all the steroid usage, I didn't start my period until I was 15 years old, nor was I developed like most kids my age. But boy howdy, when I finally did start my period, I bled for a solid 2 weeks nonstop, and for many years would have to stay home from school or be brought home from school because I would bleed. Being as that was a female issue, I think the doctors just thought I was being melodramatic, and put me on birth control pills, which made me sick, and only worked for a couple of months and then back to the ol' bleeding routine once a month again. Bleeding would be so bad that I couldn't leave home. I have actually had my hemoglobin fall to dangerous levels as well. The interesting thing about the bleeding is that I only seem to have problems in certain areas. While I have trouble stopping nosebleeds, it seems that stopping bleeds from a cut are much easier to manage, but it still takes me longer to stop bleeding. I can bleed for a solid 15 minutes without clotting.
I had my ileostomy turned into an internal pouch in 1993 or 94 (can't remember) because I was having skin problems around the stoma, and that was a BIG mistake. I hadn't had that internal pouch more than a month when I started having bleeding episodes, and it was decided that my Crohn's Disease was back about a month or so after that surgery. During that time I had a doctor who I didn't feel was giving me the attention I needed, and to be honest he wasn't. I finally found one who at least kept me from dying, even though she didn't catch the diagnosis either. By this time I was in my late 20's. During this time I had gone to the ER with a BP of 50 something over 30 something and had many blood transfusions for I guess a little over a year. We had more surgery to convert the internal pouch back into a conventional ileostomy, and it has served me well now for 11 years, except that I have developed an ulcer around the stoma area called Pyoderma Gangrenosum.(Seems I have a habit of collecting long name and rare diseases!!)
Now, here is where the real kicker to all this comes in. One evening in February of 2002, I came home from church and there was a mysterious sounding message on the answering machine. It said, "Karen you don't know who I am, but I am related to you, and our son has been diagnosed with Crohn's Disease. Call me." So naturally my curiosity was peaked and I called. In talking with this person, turns out her son was also albino, and had the same stomach issues I had experienced, but not until he was in his late teens. In talking with her she told me about a condition called Hermansky Pudlak Syndrome, and as she described the symptoms, I got cold chills down my spine, as they sounded just like many of the things I had experienced. And my other reaction was that they had been snookered into some made up disease so someone could take all their money.
At that point I decided to go online and do some research, and found information on the HPS Network's website as well as the National Organization for Albinism and Hypopigmetation's website. NOAH, I knew was reputable, and so I decided it was time to approach one of my many doctors about this. I was visiting with my dermatologist, and I asked her if she had ever heard of Hermansky Pudlak Syndrome, and her response to me was that "no she hadn't, but it didn't mean that it wasn't an actual disease." She said that they spend very little time in school on rare syndromes. So she told me to sit still and she would be right back. She disappeared for what seemed an eternity, came back and said, "Karen, you need to be tested for this, as your symptoms fit the bill" So, I gave her the information I had received from Donna Appell at the HPS Network and we sent my blood off to Dr. White, and the answer came back I have Hermansky Pudlak Syndrome. I was 38 years old before anyone knew, and I am now 41. Gee, that would be the answer to the question of bleeding, bruising, and the albinism. Not to mention, I don't have Crohn's disease, but Inflammatory Bowel Disease due to HPS
Since the diagnosis of HPS, I have discovered I have one of the terminal symptoms of the disease called Pulmonary Fibrosis, so you better believe this knowledge has changed my life dramatically. Every chance I get, I talk to doctors to inform them. As a matter of fact I helped teach a group of dermatologists at the University of Chapel Hill and Duke about the disease. I have helped to raise money for the HPS Network every year by participating in an event called The Human Race, where the money benefits not only HPS but also The Volunteer Center of Greensboro. I have been on TV twice. Once on Fox 8 from High Point NC and once on Star News in Reidsville, NC. I have also talked about my story in The Reidsville Review, and the Eden Daily newspapers. I feel I now must raise awareness of this disease because I am fighting for my life and for the life of others around me. I also help by participating in research studies being conducted at The National Institutes of Health in Bethesda, MD on HPS.
All this makes you realize just how vulnerable and small you are. It really makes you step back and examine the most important things in life, which are my relationship with God, and the relationship with my family and friends. Without my family, friends, and The HPS Network there would be no support system. Without God, there would be no hope for a brighter tomorrow
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