This is the story of me from before I was diagnosed with Pompe’s disease. I hope this helps to enlighten the medical community as well as other Pompe patients.
Back in 1965 my Mom was told that I would be born on December 2nd. This date came and went and the glorious day for my parents came on December 23rd. I was a normal weight baby and brought in to my Mom in a Christmas stocking. At that time there was no indication of any abnormalities present.
I lead a normal child’s life running and playing like all other kids did. I had no trouble learning to ride a bike or much of anything else. I was a happy kid doing and getting into all kinds of mischief that one could.
It wasn’t until I was in sixth grade that I started noticing some changes. When I would go to visit my uncle, who was a cop and also my godfather, his neighbor would ask if all of us kids would like to go swimming. I did and my Dad was trying to lift me over the fence. When doing this, we all noticed that I had weak neck muscles and when my head flips backward I cannot lift it back up by myself.
It has gotten weaker over the years, but I can still hold my head up by myself. Only now I have a new wheelchair that has a headrest for the times when my neck isn’t so strong. I was the only female on the safety patrol program and had an easy post since it was in my driveway and the corner across from me. My sixth-grade class had its track meet to get ready for and I began falling not long after attempting to run skinning up my knees. While in grade school, I wanted friends so bad that I would do whatever they wanted to be included in on the fun things. I knew I didn’t want to be in the cliques and be my own person. I wanted to be unique and have been now for many years. Only now I would love to be somewhat normal and like everyone else.
My parents at that point thought that this was just a clumsy stage that girls go through. Eventually they took me to the pediatrician to be checked out. He had told them that I was just lazy and walking pigeon toed. Little did he know that he was certainly wrong.
I went on with my life as normal as I could. When going to junior high school, I decided that going with the flow of the kids that were in my class wasn’t me. I began to get vocal and a backbone when the kids would trip me, push me down, shove their books into my breasts or push me into the lockers. I didn’t need their help to fall since I seem to fall every day at least once a day all on my own.
I, from there on, would get the same treatments from the bullies in my classes until I was in the second half of my senior year. When one day, I fell all on my own and my books sprawling across the floor. I started to imagine the sight of my big butt up in the air with a skirt on and me on my hands and knees. I began to laugh as I could picture all this. That was the day that they all stopped bullying me. During my senior year, I went to a doctor because I was having difficulties gaining weight. I only weighed 92 pounds until the doctor did some measuring and then put me on a high dosage of prednisone. Within a week I had gained 11 pounds, and found that I had no clothes that fit. I was originally diagnosed as polymyositis, which also is under the Muscular Dystrophy Association (MDA) umbrella. I sort of enjoyed being on the steroid for the simple fact that I was a non-stop eating machine, but I didn’t like all the side effects I had from taking it. When I stopped the prednisone, I went back down to my 92 pounds.
The doctor was unsure of something and had me scheduled for a muscle biopsy on January 11, 1984. The researchers and doctors believed at that time that they had damaged the muscle tissue taken. Before the second muscle biopsy could be scheduled, I was scheduled a couple of days after the first surgery for and EMG. This doctor tested all around the wound site and unbelievably it didn’t hurt. So I was then scheduled for a second biopsy at another hospital and this was scheduled for February 8, 1984. By that time I had discontinued using the steroid. While the second biopsy was in progress, I could feel the surgeon cutting into my thigh and didn’t say a word. It was the antisteologist that had commented about me feeling the procedure. The surgeon gave me another local shot and I ended up with an infection there. Both muscle biopsies were done on my left calf and upper thigh. I thought the thigh would be the easiest to start walking back to normal with, but I was wrong. I wrode home slightly laying and sitting on the back seat of our suburban and having some severe muscle spasms in the biopsy site. I tried all I could to convince myself that it didn’t hurt, but after Dad carried me to his bed and propped my leg up. I succumbed to tears and swearing. Eventually I did fall asleep for a while, only to wake up for something to eat.
I knew this was something that I could not readily fix myself and when the doctor, who scheduled the biopsies, called my parents and me into his office for the results. I wasn’t worried about me because I knew I could make it through this, but was concerned about my parents. I sat there as this doctor told them that I have a rare disease called Acid Maltese Deficiency or Pompe’s disease and we should contact MDA. I watched my parents faces lose all coloring. This information took its toll on my parents and when they told my younger brothers about the news. They all sat around crying about my misfortune. I never once blamed my parents for this disease because neither of them knew that they carried part of the gene that causes this. Besides, back in 1965 the doctors didn’t have a test for this.
The doctors had told me that there were going to be things I was able to do before that I wouldn’t be able to do now. I set out to prove them wrong, but in some cases they were right on cue. I used a cane for many years to assist me in walking, but when you are 18 you have this image of an old woman hunched over this cane and that isn’t how I wanted to be seen. I would go out to the mall and purposely forget my cane, but in doing so I realized that I did in fact need that cane after all.
In 1988, my parents and I drove my van out to Long Island, NY to the North Shore Hospital to visit Dr.Alfred Slonim. He put me through some rigorous tests and then decided that I needed more nutrients. Since I wouldn’t drink ensure, the only way that we could get that stuff in my system was a nasal feeding tube. For a while, those feedings while I slept worked. You see I had slowly lost weight after graduating and was down to 62 pounds. This nasal feeding while I slept helped me to gain weight again. I couldn’t continue since I started burping up the stuff and if it tastes like medicine you can count on me not taking it. The best thing is that I had gotten up to 88 pounds in a few months. I still have the weight problem that I detest. When I feel I have gained weight and I am able to go to my uncle’s veterinary hospital to use their flat bed scales, the scales usually tell me I either didn’t gain an ounce or lost the weight.
I had troubles after high school finding a job because of my limitations, but received a break and worked for the U.S. Army as a civilian secretary for 11 years. When 1990 came around, I started having major headaches and couldn’t figure out why. By Christmas of this year, youngest brother came home from Biloxi, MS where his technical school was (Air Force). I don’t recall him being home. A person should remember their birthday and Christmas Eve/Christmas and all the events they brought. I was able to drive to work, but have no idea how I got from home to work, conduct a full days job and come home again without any accidents. I was given time off of work to find out what was happening to me. I had slept all day and most of the night. I tried to wake up and be up for a little bit since I had just slept 23 hours. I sat down in my lifting recliner chair with a can of juice in my hand. At some point of drinking it, I shook so bad that the can of juice flew out of my hand and on to the carpeted family room floor. I couldn’t take this much longer and I had myself admitted to the hospital to find out why the headaches and being so tired all the time. While in the hospital, the nurses put me on 100% O2 and at one point I stopped breathing. My parents had just left and my Mom called to check up on me since she had a funny feeling. When the nurse gave her the message from me that I was fine and not to bother my Mom, she decided that she and my Dad needed to be back at the hospital. As she got there, she stood beside my bed and started calling out my name without any response as well as slapped my face and still no response. The nurse was asked to take off the O2 and she wouldn’t. The pair of respiratory therapists, that had seen me earlier in the day, weren’t supposed to visit me at this point, but decided to come in to see me anyways. It was the respiratory therapists that saved my life by pulling the O2 nasal canual off. This allowed my body to regain consciousness and begin to breathe normally again. I had my head turned was staring out the picture window and at my Mom. I then made the comment “you mean I am not dead yet” which is something no parent should hear from their child. The nurse put the O2 back on me except she turned it down to 50%. Later on that evening I had stopped breathing once again. I didn’t need the extra oxygen. I needed help with exhaling and getting rid of the CO2, but they didn’t know or realize that.
Later that night they took me into an IMU room and I was all doped up on valium. My parents had asked for a conference with the overseeing doctor to get the values and find out what all was wrong with me. This doctor wouldn’t give out that information to my family. Most likely because I had just turned 25, but my Mom told the doctor that my uncle is a doctor as well. When that came out, she gave my CO2 numbers to my family of 149. I sat in my bed like a zombie and listened to all the questions my family was asking the doctor, but I understood all that was being said. It was at this point that the doctor gave me a choice of not having a trach put in and going through the bad headaches along with sleeping all the time again or have the trach and live a while longer. There was no hesitation, but Dad and I sat at the end of my bed while everyone else went out by the nurse’s station. I asked my Dad if it were him what would he do. I knew his answer, but I needed to hear it anyways. “Life is too short and precious to waste” and after hearing those words, I gave the doctor my answer of having the trach put in.
I was intubated within the next couple of days and transferred to another hospital since the one I was in wasn’t capable of dealing with a trach patient. As I got into the new hospital doors, I pulled out the intubation tube. My Mom told me that it took three heavy set nurses to hold me down so that the intubation tube could be re-inserted. On January 15, 1991, I went through a tracheotomy. The hospital wouldn’t release me to go home until I had to learn to speak while being on the ventilator. At the same time my parents and David, the oldest of my two younger brothers, were at the hospital learning to take care of the trash with cleaning and reinserting not to mention the care of the ventilator. At the time David took off time from work to learn this, he was fired because his boss didn’t understand about family leave. David didn’t mind and wanted to assist me in anyway he could. One night David and a friend of his came to visit and noticed that there had been a problem. I had told him that a resident doctor had made a mistake at changing the trash and scraped up the inside of my throat. My intramural was out and full of blood. One of the nurses, instead of cleaning it herself, taped the intramural to the wall. David saw this and started ordering the nurse around to get things dealing with my trash all cleaned up. After my brother and his friend left, I reported the resident to the doctor doing rounds that night. He ended up giving me Tylenol for the pain I was in because of the resident’s inept knowledge of the respiratory system and the proper way to insert a new trach.
The nurses wanted me to help teach the other trache patients to speak on the ventilator, but I was still learning all about the trache. I was in the hospital for 3 1/2 weeks and had only been out of the bed walking three times and two of those times were with my parents. While walking with the walker on the last time with my parents, I asked the nurses where the elevators were so I could get out of there. My parents had seen the pulmonologist at some point before I was released from the hospital. He had told them to still be prepared to have a funeral. He told them that I wouldn’t be able to talk any more. I walked into my follow-up visit for the pulmonologist and answered his questions myself. He was very surprised that my voice was as strong as it was. I have now had my trache for 13 years and still going strong.
After I came back to work, I didn’t do anything different than I did before being in the hospital. I did have my bad days where I would have to suction a lot and it drained my energy level. I would continue on with whatever work I had to do until I could get home and take a nap. In this office that I worked, I was working with engineers and learning a lot from them. Shortly after being back to work, Mom and I went the the mall and a major chain store. We were in the furniture department checking out chairs. Mom was a little bit away from me and my wheelchair looking at one chair. I saw one I wanted to look at. So I assessed this tiny ramp, that had not one sign stating not for handicapped access, that had dark carpeting and not enough lighting, I still chose to try to go to the next level to see the chair. I made the wrong assessment and got maybe half way up the ramp and tipped over backwards. I hit my head on the tile floor and the rubber piece to bridge the carpeting and tile. Never once did the employees ever say could we help you or call for the EMTs. I filled out an accident report and we drove to the emergency room. I spent 3 days in the hospital with a sprained neck and a concussion. I ended up suing this company and they settled because they were afraid if it went to a jury that they would sympathize with me.
At one point, I had joined the command handicapped committee. Then took over being the representative for an entire building in which I worked. I was responsible for getting the handicapper’s complaint to the right person and making sure that their complaint was taken care of. I had put in a work order for automatic door opener for those in wheelchairs as well as other devices could get in and out of the building properly. Little did I know, that someone else had put in this same work order. During this time, supervisors and civilians alike were asked to nominate a handicapped person of the year for an award. I was on the handicapped committee and distributed the nomination forms and never expected to be asked if I would mind being nominated. In October of 1993, I won that award without much competition. I was pleased enough just to be nominated and that my co-workers thought that much of me and my work to want me nominated. All I was doing was my job and didn’t see it as anything else. My co-workers believed that with me using a cane and at times a manual wheelchair or three wheeled scooter to get around and get the job done was an exemplary task. The MDA neurologist that I see had told me that by that Christmas I would be permanently in a wheelchair.
I somehow had subconsciously had trained other muscles to take over for the hip flexors and continued to walk until about 9 years ago. Now I am no longer working for the Army and I am on SSDI. When I applied for social security, I had no trouble in receiving it. Now putting in for my federal medical retirement I had to fight for. My initial paperwork came back denied claiming that I wasn’t disabled enough. I gathered up more doctors letters and other medical information along with a Polaroid picture to show the person opening the envelope that I was disabled enough. I wasn’t so proud that I didn’t ask for help from one of my state’s senators. It was with his help that I eventually got my medical retirement from the government. Before I went to him, I went to a man running for a federal seat and had faxed him as much of my retirement forms as they would allow. This other man’s office was rude and crude to not only me, but my Mom as well. I have a friend of my youngest brother’s that is a young republican. I had told him of my dilemma and didn’t realize that he was going to a political dinner. At this dinner he was asked to sign a petition for the man running for a particular federal seat. Erik told them no and explain my situation. A couple months later I received a phone call from Washington asking me to give them the whole story. The lady I talked with said she would make sure that the impoliteness and unprofessionalism wouldn’t happen again to anyone else.
At this point, I can no longer stand or walk any more and which is a pain in the butt. Because of the lack of muscle strength in my arms and inability to use my legs, I have to depend on my parents to get me around to other places, carry me into the bathroom to use the toilet or bath. My Mom helps to wash my hair because I can no longer lift my arms up that high to do it myself and have to wear a shower shield to cover my trach. This prevents the water from getting down inside of me and my airway. If I want to lay on my sides, I need help from one of my parents to roll over. My right side I can’t lay on for very long because of a work related accident I had. I had just talked to my Mom letting her know I was on my way home after working overtime. I walked with my cane to the elevator and noticed the floor of the elevator was raised about 3 inches about the main floor. I attempted to raise my leg up high enough to enter the elevator. This attempt failed and I fell into the elevator hitting the back bar and breaking my glasses. It was a good thing I was wearing my glasses since I had split open by my right eye and hit hard on my right shoulder.
Since school, I have never been given a second look by any men. I started chatting online and up until last November I hadn’t found anyone to be friends or have a loving, caring man that could see me before seeing the chair. On November 6, 2003 there was a wonderful and sweet man that found me. He had no problems with me being in a chair or the health problems. He is a wonderful man and boyfriend, who is supportive in whatever I try to do. Jose is caring, loving, kind, compassionate and my best friend as well as my confidant. We are able to talk about anything and somewhat experience what having a boyfriend/girlfriend relationship is like even from a virtual world. When he can come and visit, he wants to learn how to suction and take care of me since we are going to my 20 year high school reunion. Then I can watch all the men and women’s, that were nasty to me, jaws drop when we both come in looking hot.
I never had a boyfriend all through my school years, at least not until after I graduated from high school. This has been an experience to have a man that wants to be with me and there for me. Although, at this time we are many miles apart and can’t be there physically to help and support one another in whatever our dreams and wishes are. My dreams are to exercise enough and one day be able to walk all over again. Jose knows of this dream and from out of the blue told me that he wanted to build me an exercycle like I had worked on back in 2000. Needless to say I was amazed and startled that he wanted to help me exercise to fulfill that dream possibly. Together we drafted up what we could to see if it would work. I asked a engineer friend if he would take a look at my pretty lousy diagram, but I did the best with what I had to work with. Since my friend is an electrical engineer he asked one of the mechanical engineers to take a look at it for me. I am still awaiting any information on that project.
This all has been difficult for me since I have a tight knit family that is protective of me. For them it is difficult, to realize that I am an adult and can do things and experience them for myself. When Jose came into the picture, they believed that he was just a friend and things wouldn’t last. It is now July and we have been chatting and getting closer. In their hearts, they want me to be happy, but they never imagined that there would be a man that wanted to be my boyfriend and if things got more serious then it is their fear of losing me. They have had me around all my life and breaking off one of the three musketeers to them wasn’t allowed. This is something my parents will have to get used to at some point. I am not leaving my boyfriend and want him in my life too. There is plenty of room for all of us to have fun together.
I wanted to end this with a part of me that no one sees that is pretty profound. There have been many people that my life has touched or crossed their paths.
I have laughed when people have told me that I am strong. They just don’t know that I am just a frightened little girl inside that just seems to know how to hide that part. I have tried being strong and rely as much on only me, but that doesn’t always happen so well. I do have a strong will, but that is about all. I wish at times I could be more like the person that I show to everyone else. I am not sure I know how to do that.
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To further research into Pompe Disease, as well as support Pompe patients around the world, private funds must be raised. If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
AMDA (Acid Maltase Deficiency Association)
P.O. Box 700248
San Antonio, Texas 78270-0248