Tiffany On May 24, 2005 an interview with Tiffany aired on Fox 26 News in Houston.
(Right click with your mouse, and then choose "save target as" to save on your computer. The file is large, so download time will vary depending on connection strength) On May 14, 2005 an article featuring Tiffany appeared in the San Antonio Express News. To view this article, please click here. On May 10, 2005 an interview with Tiffany aired on KSAT 12 News in San Antonio.
(Right click with your mouse, and then choose "save target as" to save on your computer. The file is large, so download time will vary depending on connection strength) An article on Tiffany appeared in the March 21, 2005 issue of People magazine. To view this article, click here. Several months ago, I was given the opportunity to write a paper about an experience that changed my life. I wrote about being diagnosed with Pompe's disease. I found that writing about my experiences was a good experience for me. To read this paper, please click here. Tiffany--December
2004 I was born on January 22, 1983. By the time I was 3 months, I had had my first cold. I developed slowly for my age, but not slowly enough that doctors noticed that something was wrong. As a little kid, I fell a lot. I always seemed to have a skinned knee. I would also always catch a cold during Christmas or January, my birthday. It never failed. Do you have any idea what is like to be sick at the same time every year? When I was 7 I had pneumonia for the first time. I was so sick that I missed over a month of school. Ever since I was little, I have been going to a wide variety of doctors. I have never been able to bend over. My back just doesn’t curve like it is supposed to. When my mom would ask doctors, they would say, "Maybe it is normal for her." She even thought at one point that I might have Cystic Fibrosis, so she had me tested. When the test came back negative, she was relieved. Meanwhile, I had no idea anything was wrong. I thought that I was just like everybody else. This went on until I was 11 years old. About a week before Christmas that year, my dad’s cousin, who is a pediatrician at the Mayo Clinic, was in town for a convention. My parents told him about my medical history, and asked him what he thought. I remember him asking me to walk up a flight of stairs, and to walk down a hall. Within 10 minutes he told my parents that he thought that I had a myopathy. That was all it took. I had been going to doctors for years that said that nothing was wrong, and he diagnosed me in 10 minutes by just watching me! He arranged for me to have a muscle biopsy done at the Mayo Clinic in January. I was diagnosed the week before my 12th birthday. At the time I was 4 feet 10 inches and weighed only 58 pounds. After the biopsy, I went through a wide variety of tests. We found out that I also had very bad respiratory problems, my lung functions were only 40% of normal. The doctors told me that I would only live into my second decade. They also told us that there wasn’t anything we could do about it. The week after I got back, I was put onto a respiratory machine called the Bi-Pap. It was really hard going back to school and knowing that I was really sick, when I didn’t feel sick. For the next year things started to get harder, but I was still able to go to school. But by the spring of ’95, I started missing a lot of school until I was no longer able to attend. The next year I started home schooling. After that things started to get bad fast. By June of ’97 I had developed scoliosis, and my lung functions were below 20%. The good news was that I had grown and gained weight. Unfortunately, as I gained weight, my scoliosis increased. Right now, I weigh 90 pounds and am 5 feet 3 inches. My scoliosis is now over 90%. In March of this year (1999--age 16) I had to start using a wheel chair. It was one of the hardest decisions that I have ever made, but I didn’t have a choice. I think one of the hardest aspects of having this disease has been missing out on so much of my adolescence. Sometimes when I think of everything that I have missed out on, I get really depressed. I mean, I missed out on going to my eighth grade graduation, lots of school dances, dating, learning to drive, and countless other things. It is also really hard to accept it when things that I used to be able to do, I can’t do any more. There are so many people of all ages out there with this disease. I know a little girl who has the infantile form. The first thing that tipped the doctors off that something was wrong, was her enlarged heart. Instead of trying to find out why, they told her parents that they would find out during her autopsy. She is just one of so many, and none of them are expected to live past a year. There are also adults out there that have it. Some of them were even diagnosed as teenagers. I have gone through many changes since I was diagnosed almost 5 years ago. Most have been bad, but I’ve also formed some wonderful friendships with people who have taken an interest in me and have tried to help. Thank you for reading my story. Tiffany-1999 To view a video
about Tiffany House click here. June 1999--Juvenile
Clinical Trials in Rotterdam, the Netherlands July 2002--Transition
to CHO Enzyme Progress
on the Transgenic "Rabbit" Enzyme--June 1999 to
June 2002: In the Netherlands the dosage in the juvenile patients was minimal at onset of treatment. Her dosage was increased just 2 months prior to her leaving the Netherlands to undergo scoliosis surgery at the Mayo Clinic in Minnesota. She remained on the increased dose of transgenic enzyme for two years. During the first year, it was difficult to assess improvement in her physical condition because she was recovering from critical back surgery. After that, however, Tiffany began to show definite signs of improvement. Her stamina and strength increased; she felt better overall; her appetite increased; she had more energy and had very little muscle pain, nausea, and diarrhea. The most encouraging sign, however, was noted just prior to her transition to CHO. In June 2002, her pulmonary functions showed an dramatic increase. This was just prior to her being transitioned to the CHO enzyme. The first pulmonary evaluations after the transition showed a marked decrease in her pulmonary functions (to the lowest levels recorded in, at least, a year and a half). November
2002--Tiffany's Progress on the CHO Enzyme Following is a
letter issued by Marylyn House, Tiffany's mother,
in order to bring attention to Tiffany's current
condition: Marylyn House IS TRANSGENIC ENZYME FOR
POMPE’S DISEASE REALLY DEAD? Recently, I read an article in The Economist Technology Quarterly, December 14, 2002, entitled “Brave New World of Farmaceuticals” (British Spelling) which emphasized the need of more foundries to produce monoclonal proteins. The article states that, “A mere ten antibody drugs now absorb nearly all the antibody production facilities in the world.” In addition, the article states that “More than a hundred protein-based drugs are now in advanced phases of clinical trials, and many more are in development in the laboratory. The stakes are high, in terms both of lives.....profits.......” In order to keep up with the growing demand for the production of protein substances biopharmaceutical companies have several options: • Build a new facility to produce new compounds, which would entail a cost of $200M-$400M and take three to five years to complete. • Reserve “production slots” at a contract manufacturing facility such as Boehringer Ingelheim in Germany (The CHO enzyme for Pompe’s disease was produced at this facility). • Or pursue transgenic drug production (carrying genes transferred from another species or breed) The article focused on GTC Biotherapeutics in Framingham, Massachusetts (formerly Genzyme Transgenic Corporation), and emphasized that manufacturing of proteins in animals is the wave of the future. The article states: • “it takes about 18 months to make a transgenic goat (8 months for a transgenic rabbit) that produces a desired therapeutic protein in its milk....in a cow..... (it takes) about 3 years......” • “....goats produce roughly 2 liters of milk a day, while cows produce about 20 liters a day.” • "....creating a herd of transgenic goats costs about $100M....only a third the cost of building a protein production facility.” • “The traditional method of production....which involves culturing large volumes of mammalian-derived cells and extracting their contents, costs about $150M a gram.” It is estimated that production of transgenic proteins will cost $1-2 a gram. (These costs contrast directly with what we have previously been told about transgenic enzyme production). The future of transgenic therapy is also discussed in another article, which appeared in the San Antonio Express-News on September 11, 2002, entitled, “Cloning: Man Turns Creator” by Roy Bragg. Several biotech companies were mentioned including Infigen, Genzyme Transgenics, and Pharming (remember them). The article talks mainly about the production of transgenic cows which are so valuable that they are “kept under lock and key in a barn near De Forest, Wisconsin.” The article states. “By splicing certain human genes into bovine embryo, the cloned offspring will produce specific human proteins in its milk. While a human might only produce a few grams of the protein, a cow could produce several hundred pounds of it in a year through twice-daily milking.” “Genzyme Transgenics, a Framingham, Massachusetts based biotech company, has identified 60 proteins from the milk of genetically modified mice, rabbits, cows and goats that have pharmaceutical potential.” This leads us to the search for a treatment for Pompe’s Disease. When scientists at Erasmus University Medical Center, Rotterdam, met a roadblock in their 25-year effort to develop a therapy for Pompe’s disease, they turned their approach to a new and novel way of producing the medicine - in animals rather than in the conventional reaction vessel. With the backing of an upstart Dutch pharmaceutical company, Pharming, a transgenic enzyme for Pompe’s disease was developed. Pharming entered into a joint venture with Genzyme Corporation, in October 1998, to develop and commercialize human alpha-glucosidase. In July 2002, Genzyme Corporation abruptly halted production of the transgenic enzyme, although nine patients were still being treated with it. Catastrophes with improperly bottled enzyme and economic unfeasibility were cited by Genzyme as reasons for ceasing production. Genzyme wanted to focus on its new in-house produced CHO enzyme (Myozyme™) and the Novazyme product, which, at the time, was flaunted as being the second-generation treatment for Pompe’s disease. The Novazyme product has since disappeared from focus and what happened to the transgenic rabbit herd is anyone’s guess. Of what interest is this to the patient who is anxiously awaiting treatment for Pompe’s disease? Perhaps it only gives us insight into the future of treatment for Pompe’s disease. The FDA under the Orphan Drug Act provides companies with incentives to develop a treatment for an orphan disease - a disease that affects a small number of people. The most notable incentive is the exclusive right to market the orphan product for seven years (ten years in Europe). If another production method is available at the end of this run, an additional seven years marketing exclusivity could be in the works. What could this do? It would allow Genzyme to recover the initial investment cost of producing Myozyme™ while producing the next-generation drug at a reduced cost. For example, in an article in May 2003 issue of Scientific American entitled, “The Orphan Drug Backlash”, the author Thomas Maeder states: “A notable case of pricing and profit...(is) Genzyme’s Cerezyme. The drug, an enzyme replacement therapy for Gaucher disease, which afflicts 2,000 Americans, is the world’s most expensive medicine. Genzyme reportedly earns close to half a billion dollars a year from this treatment by charging patients between $100,000 and $400,00 a year for it, depending on whether the patient is a child or an adult. And the company did not lower the price when it switched from extracting the substance from human placentas to using the less expensive recombinant method of production. Patients, some of whom must spend their way into poverty to qualify for Medicaid to afford Cerezyme, are angry about the price but grateful for their lives.” Will transgenic therapy be re-introduced as a treatment for Pompe’s disease? If so, will the introduction of a second, and possibly a third generation of enzyme therapy for Pompe’s disease, inhibit the development of gene therapy — “the cure.”Only time will tell. UPDATE--DECEMBER 2002 A change in Tiffany's infusion protocol was authorized by Genzyme in November to try to alleviate problems that she has encountered since her transition (and reduction in dosage) to the CHO enzyme in July 2002. It is still too early to tell if the change will be beneficial. UPDATE--JANUARY 2004 When she was diagnosed at the age of 12, we were were told that Tiffany would not live to the age of 20. She has now reached a milestone. In January 2004, Tiffany celebrated her 2lst birthday. At the age of 16, Tiffany was admitted as the first juvenile patient in the first clinical trials with enzyme replacement therapy at Sophia Children's Hospital in Rotterdam, The Netherlands. Many changes have taken place in the past 4 1/2 years and along this path, Tiffany has experienced many ups and downs. Currently, she shows improvement in her strength and stamina, but her respiratory functions remain critically impaired. In most cases, dosage plays a key role in a patient's road to improvement, and hence, dosage studies are part of Genzyme's ongoing studies. Although Genzyme did implement a dosage increase in all of the original transgenic patients (all of whom experienced a decline after transitioning to a decreased dosage of CHO enzyme), Tiffany's dosage is still below that received on the transgenic enzyme. Hopefully, she will receive a dose increase in 2004 to try to improve her respiratory functions which remain a critical aspect of this disease. UPDATE--JUNE 2004 As of June 2004 Tiffany is now receiving the same dosage that she was receiving while on the transgenic enzyme. For additional information about Pompe's Disease see "The Physician's Guide to Pompe's Disease" (booklet sponsored by AMDA) at the NORD website.
LUCAS Our son Luke, the youngest of four children, was diagnosed with Pompe's Disease at 5 months of age. He had a very normal birth and development but was a floppy baby. Luke was first hospitalized at 6 months of age with RSV virus and pneumonia after which he was noticeably weaker than before. At 18 months of age Luke was again hospitalized several times with pneumonia. Luke suffered complete respiratory failure and was transported to Albany Medical Center Hospital about 60 miles from our home. He was trached, ventilated, and a G-tube for feeding was inserted. We came home from the hospital on May 31, 1995. Thanks to wonderful nursing care and a great support team comprised of his physician, speech therapist, physical therapist, special education teacher, and early intervention coordinator, he has remained at home ever since. All of the services Luke receives are performed in our home. Even his doctor makes house calls! Luke turned 5 years old on July 23, 1998. He is a very beautiful, bright, and loving child. His development is normal, but he is just extremely weak. He has learned to speak using a passy-muir speaking valve attached to his trach and is able to play with toys if his elbows are supported on a table. He cannot sit up at all without support and has very little head control. He can kick his legs and move his arms. He has his own lap top computer that he uses for learning and playing. Luke requires constant care. His siblings, ages 8,10, and 11, have adjusted quite well to all the attention that he receives but regret the fact that we rarely can do anything together as a family. Anything that Luke catches affects his respiratory system. He has already been very ill so far this winter. It has been hard to accept the fact that our baby is on total life support. Yet in spite of it all, Luke continues to thrive. He is so very happy and totally forgiving of all that we have to do to him. We are so grateful for the research that is being done and are praying that we can keep him healthy until a treatment can be found. We are also happy to have found some wonderful support from other people afflicted with this disease or having loved ones with the disease. Luke's Mother Update--January
2004 Update--January
2006
Trae I was diagnosed in 1991 at age 22 with AMD. I also have a sister who is severely affected with the disease. She was diagnosed 13 year ago at age 20. In college, I began to notice that it was getting difficult to walk up stairs. I would get very winded, and my muscles would burn. After two muscle biopsies, I was diagnosed with AMD. After college I married and got pregnant. In my fifth month, I began to have serious problems. I became extremely weak and short of breath and was unable to walk more than about 10 feet. I was put on a Bi-Pap machine for nocturnal ventilation. Haley was delivered by cesarean section on September 9, 1993. After Haley's birth, I was determined to regain my strength and get off of the Bi-Pap machine. I did regain some strength but was never able to rebuild my pulmonary functions which are now 26% of normal. The disease is still slowly progressing. I have trouble keeping on weight. I am 5'4" and weight 93 pounds. My sister who is more severely affected is 5'7" and weighs 70 pounds. I have been told that I should not have gotten pregnant--that it probably accelerated the progression of the disease. But even so, I would not change a thing. Haley is what my life is all about. She keeps me going and makes me smile on those days when life seems so unfair.
Robin At 16 years of age, Robin was an accomplished violinist and had just won a major regional competition when she came down with flu symptoms. Severe fatigue and weakness followed, and she could no longer attend school. A year later she was finally diagnosed with AMD. Robin's condition continued to deteriorate and just when she was about to give up her violin studies, she was selected by Very Special Arts to perform as a national Panasonic Award winner at the Kennedy Center in Washington, D.C. She took this opportunity to travel to North Carolina and New York to visit specialists recommended by AMDA. Under their guidance, Robin started using a Bi-Pap ventilator at night and went on a special diet and exercise program. In the following year, Robin gained more than 15 pounds and gradually regained some of her strength. As Robin could no longer commute long distances regularly, she moved 90 miles to live near a university hospital and her music activities. Today, Robin is finishing high school through a public school home tutor and continuing her musical pursuits. She recently won the honor to perform as a national Yamaha Young Artist. She serves as concertmaster of her orchestra and plays first violin in a string quartet which has performed for President Clinton among numerous other engagements. Robin is planning to go to college and hopefully waiting for the upcoming enzyme replacement therapy. Robin's mother Betty (Adult Patient) Dear Mr.
and Mrs. Novazyme, Mr. and Mrs. Genzyme, This has a snowballing
effect, because depression will also lower the immune
system, something that the Pompe patient can ill afford
to compromise. (And we wonder ......... is no news always
good news??????) You see, YOU may know
what's happening on a daily basis, but we - the patients
- are sorta, kinda left in the dark a little. And it is
disturbing to many of us.
Thomas's
Story
The picture on the left was taken at Christmas last year(2002) before Thomas got sick and the one on the right was taken in Philadelphia. We caught him smiling, which he had lots of trouble doing because of this terrible disease. Hello everyone. My name is Jill, and I have a story to tell about my amazing and fearless son, Thomas. Thomas was born on Sept. 6, 2002. His trip was less then smooth. Although he looked like a beautiful and healthy 10lb 9oz baby boy, he had some problems with his heart being enlarged. On day one, before I had a chance to hold him, he would take his first flight to the local trauma where he would spend the next 10 days fighting to breath on his own. Doctors had no direct answers to what may have happened, but they assured me that he was going to be okay. The day he came home for the first time was wonderful. I hadn't been able to hold him a whole lot in the PICU so I was making up for lost time. Every thing seemed great. He was almost 2 months old when he got a bad cold that wouldn't go away. After a few stops at our doctors, they decided to put Thomas back in the hospital. That evening he would take his second flight and visit his good friends at the trauma center again. He was tested for many things, but nothing showed up. First, we spent 8 days in and were sent home. That night I was more scared then ever. He had a very bad night and ended up back in (the PICU) for a few more days. At that time I was told his heart had been large by some x-ray techs, but after testing by the heart doctor, I was told there was no worries. He seemed to be getting better so I didn't. The months to follow were okay. He would get a cold fast, but it was that time of the season. He seemed to be holding his own. The holidays were good, and we brought in the New Year with big hopes. Little did we know 2003 would end up our worst year ever. At his 4 month checkup Thomas had stayed the same weight for 3 months and was very pale in color. I had concerns about him, and now the doctors did too. They sent him for testing, and all we could do was wait. Thomas had trouble going to the bathroom, eating, and even being on his belly for longer then a minute. He couldn't roll over yet but he was still young. Everything else seemed fine. When the tests started coming back, there was a sure sign that something was very wrong. His liver function was down; his iron was very low, and he was considered malnourished. One morning Thomas got sick, and I thought to take him to the doctor right away. I think God stepped in that day because Thomas started having trouble breathing in the waiting room, and when we got back to see the doctor a few short minutes later, he was hardly breathing and almost blue. He was put on oxygen and sent back to the hospital. It would be the last time he would ever see his home. We first spent around two weeks in a local trauma center where he underwent test after test. They had an idea what they were dealing with, but it wasn't that easy to get the answers. One day when the doctor came in to talk, he told us about CHOP, this was a children’s hospital in Philadelphia. They had seen cases like Thomas, and he felt that this might be the place he needed to go. I sat with my family, and in a few short hours we decided he needed to go to CHOP. The next morning he was life-flighted once again. His trip was rough and Thomas was fighting real hard to hang on. We had nurses tell us they thought he might not make it through the night. He was put on C-pap and started fighting real hard. The doctors told us they were pretty sure he had Pompe disease, and after a skin biopsy, they would know more. That seemed simple, but then they told us it would take 6 weeks for the results and that was time we didn't think Thomas had. That evening I was visited by the genetic doctor and told about the study going on at Duke University. It was a long shot but our only shot. We started the paperwork and waited for the results. As they days went on it looked more and more like Thomas was going to get the treatment he needed. He had good days, and he had bad. He was given a feeding tube and given a high calorie formula. Over the weeks Thomas was fighting with all his might, and his family was too. He started moving his hands a little which he hadn't done since the day he got sick. He also got life and color back into his body. The nurses told me all the time how great he was doing and how far he had come. The day the news came, we celebrated. It was a terrible disease, but it was an answer and now we could get treatment. The plans were made and we were off to a long vacation in North Carolina. There we would spend the next 6 months but that didn't seem to matter, only Thomas getting better mattered. I flew with him and his dad and big brother followed. It was my first flight, and he was a little pro. It was an exciting trip, and we couldn't wait to get started. He had one more step before the treatment and that was like a physical. After 2 days of that we were pulled into a meeting with the all kinds of people, yet it seemed like we were the only people in that room. At that time we were told Thomas had been too sick and would not be accepted for the trial. All that hard work and fighting seemed useless. My husband and myself just cried; there were no words to be said. I felt my world crashing down, and there was nothing I could do. How could they have the medicine to help and yet turn anyone away is all I could think. I knew there was more to it, but it didn't seem fair. I returned to Thomas’s room. As he looked up at me with those big blue eyes, I knew his fight was over. I could not let him go on this way when there was nothing more they could do. I wanted to hold my baby, squeeze him tight and let him know it would all be all right. I said to the nurse I want it off, all of it, and I want to hold my baby. That night plays over and over in my mind, and it never gets any easier. We held him tight and loved him as much as we could. The hardest part was seeing my 6 year old having to say good-bye to his brother and not really sure why. It was early morning on April 3rd when Thomas took his last breath and died in my arms. I will never forget that moment or the strength that little boy had. I know he left his strength behind to us because I am not sure how we get through each and every day but it is because of his fight that we fight to get our family back to normal. It will never be the same but we go on, and every day he is still a huge part of our lives. We will never forget him and his battle, and we hope others will get interested in learning more about this disease and help out those who suffer. I wrote this story because I am proud of my little man, and I want to help others in any way. I want to make this rare disease more known to the people that can make a difference, the doctors. I pray everyday for a cure and my hope for the future is that no one will ever suffer from Pompe disease again! Thomas's Mother John's
Story
A year ago today
[April 29, 2004] our son, John, passed away from Pompe
Disease. He was four years old. Most of you
will not recognize his name, but you all should know who
he is. John was patient 101 - the first person to
receive the CHO Enzyme Replacement Therapy (ERT)
developed by Dr. Y. T. Chen and his staff at Duke
University. We wanted to share his story with you. A Mother’s Anguish
April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter passed away. Her name was Patty. Everyone, especially the medical profession, should be aware of the potential for this to happen to any one of us, and to anyone’s daughter. There were many symptoms, yet none were detected or taken seriously by the professionals responsible for her care and recovery-in essence , those responsible for her life, that should have known better and known where to seek medical attention that was needed. Patty, and her family, especially her mother, have paid the price for their lack of interest and incompetence. Patty was born a perfectly normal child, but as she grew older, she was rather thin. However, she appeared healthy and beautiful. As an adult, she married and had a child of her own. She was a very positive person, always looking on the bright side of everything. She had a strong faith in God, which prevailed during her illness. Approximately six years ago, Patty began losing weight. It became noticeable to all of her family and friends. She experienced slight muscle aches and pains, but overall felt good. Patty never complained. As her overall health started to decline, she continued to loose weight slowly. She was very prompt concerning her yearly visits to the doctor. Each and every year, they found her overall health to be good, and never seemed concerned abut her weight loss. It was about 1 1/2 years ago, that Patty noticed subtle changes, such as hearing loss, shaky hands, and a voice change. Once again, she contacted her primary care physician for help. After an extensive delay, more tests were ordered. When everything came back negative, the physician ordered a muscle biopsy. By this time, Patty had lost considerable weight, and her motor movement was deteriorating until she could not perform the smallest task, such as climbing stairs. During this time, Patty continued to loose considerable weight. It took form the spring of 2001 until August 2001 before a tentative diagnosis was made.The conclusion was Polymyositis. Steroids were prescribed for weight gain. They did not help. During the entire time she was on steroids, her weight was not monitored by a physician. She continued to loose weight, not gain. By the fall of 2001, her symptoms began to worsen. She barely had the strength of a small child. Although the physicians were at a loss, Patty remained confident that all would be fine and that the doctors were doing everything they could. Regardless of how everything appeared, she remained optimistic. Patty was sent to a nutritionist in January 2002. This did not help. As a result of steroid therapy, she developed diabetes. Eventually, she was hospitalized and put on life support. She could no longer breathe and never again spoke another word. In March 2002, the muscle tissue was finally, and I emphasize finally, sent to the Mayo Clinic in Minnesota and Columbia University in New York where it was tentatively determined that Patty was suffering from a rare form of muscular dystrophy, i.e., acid maltase deficiency, a genetic defect, passed from the defective gene of each parent, for which there was no cure. Patty never regained her bodily functions and passed away on April 6, 2002 (at the age of 44). She was a brave woman who never lost the faith in the medical profession or in God. The medical profession has yet to find a conclusive diagnosis, but the lesson is clear. Losing weight must be taken seriously. It can be life threatening and life ending. The medical profession must learn to recognize this, as we all must. This has been written as a tribute to my lovely daughter, Patty (Patricia Lynn), with the hope that it may prevent this from happening to another mother’s daughter. Nancy In a recent letter, Nancy writes: "This letter encompasses most of my feelings, however her loss in my life has been unreal. We were best friends and grew up together. She brought more joy than I can ever describe; however, I hope she is in a better place and bringing joy to others in another Life. I am in the process of having a Memory Garden landscape done in her memory in our yard. She was an Angel on this Earth and I am sure is one in Heaven." Stacy's
Story
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 troubles 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 backwards 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. Martin’s
Story I have 5 sisters and 2 brothers, and both of my parents were born in Ireland. I have been married for 11 years and have three beautiful girls (four if you count my wife Maria). My girls’ names are Caitlin, Kelly and Colleen. I grew up on the north side of Chicago and I had a typical childhood where I was a skinny kid with a big gut. I never had any real abdominal muscles so I never excelled in sports. Looking back this all might have had something to do with Pompe’s disease. I could always compete but never was at the top of the group in any sport. I have always been active and willing to work. I started bussing tables at 14 and I played football, hockey, and baseball. I love to swim, hike, snow ski, and water ski. I would try almost anything. I first noticed a problem when I was 33 years old. I went to get certified in scuba diving and I had passed all the tests except for the swimming. I could not swim 10 lengths of the pool without stopping, so I started to work out and to climb stairs. I am a stationary engineer and I maintain the equipment for a 45 story high-rise. I was used to walking up 45 floors (90 flights of stairs) and back down twice a week. Even though I was use to doing this I still couldn't swim the ten lengths of the pool. Time went on and two kids later, I was not doing too much for exercise. I worked 60 hours a week and with kids and home projects, that left very little time to relax. Maria was still working part time. I then began having a hard time with walking upstairs. I would get winded just going from the first floor to the second floor. I saw a doctor for the first time in 20 plus years and he said everything was fine, but to lose a few pounds and to exercise. That same year I went in for a hernia repair and I was still having trouble climbing stairs so I saw the doctor again and he said the same thing about losing a few pounds, to exercise, and to try and lower my cholesterol level. I was able to lower my cholesterol, and to exercise, but had no luck with my weight. In the mean time I was having a problem with swimming and with climbing stairs and when I tred to sleep, I had to perch up on pillows, so I went to see a different doctor. I was pushing 38 then and I couldn’t last swimming 10 minute with my children without having to get out of the water. I finally realized that not being able to swim for long had nothing to do with being out of shape. I insisted on a diagnosis and started a year long barrage of tests and doctors and I finally had a muscle biopsy done. By this time I was disgusted with doctors, hospitals, and feeling pity for myself wondering if I would ever find out what was wrong with me. Once while I was sitting in the waiting room waiting to see my doctor, the nurse came in and told me that the doctor would be in to see me in a minute. As the nurse left she forgot to close the door and I overheard two doctors discussing how the muscles will weaken first and then comes the wheel chair, and then the ventilator (I was thinking, here I am feeling sorry for myself and this poor guy is going through all of that). Then, the doctor came into my room and I found out that poor guy was me. When I talked with my doctor she explained everything to me. She told me there was no cure for Pompe’s disease, and that no one was working on a cure either. She also told me that there was no treatment for Pompe either. The doctor told me, however, there was one more test I should get, but I was furious that there wasn’t a treatment or cure and yet the doctor wanted more tests to be done. The doctor told me that if there ever was a treatment developed they would need patients and to be in the clinical trials I would need this test to have been done. Since the doctor said there was no treatment or cure and that the disease is so rare there probably wouldn't ever be a treatment or cure, I felt that she just wanted to run up the bill while she still could, so I just left. After going back to my lung doctor he told me he didn’t know what to tell me, but that he would makes some calls and that I should research this also. That's when I found the GSDNet. I also went to see Dr Slomin and he put me on a high protein, low carb diet and exercise. He also set me up with an inspiratory muscle trainer and a bi pap machine. When Genzyme came out with the observational study I jumped through hoops to get involved. I was set up to go to St Louis and when they called looking for some essay, I made twenty phone calls and had the frozen specimen shipped to St. Louis with next day delivery. Two days later I got the call saying they had to fill the spot or lose it to another site. Any way, I still work 60 hours, I still hike with the kids, and I can still swim. However, while I am positive, I am waiting for the other shoe to drop. So for now I’m just enjoying my wife and kids. Juan's Story CRAZED By Patricia
Chanco Evangelista His name is Juan Benedicto Magdaraog. They call him Dickoy. I met him only recently at the LEAP leaders conference. The auditorium was packed with the best and brightest students universities could offer. And they were all silent. I could hear the low voice of someone speaking into a mic, and another sound I couldn't recognize, a series of harsh, regular rasps. It was only until I was led to my seat that I understood the hush over the audience. Onstage, a young man was speaking into a lapel mike. He sat on a wheelchair, with one hand manipulating a remote for the Power Point presentation behind him. The sound echoing through the hall was his breathing machine. When Dickoy finished speaking, the audience was on its feet, clapping for the young man with the extraordinary story. He was 10 years old when the symptoms began to show. Before that he was as normal as any kid - he could swim, run and play. At 10, he couldn't run as fast or play as hard. By the time he was 14 he was diagnosed with muscular dystrophy. Even with the proper treatment, Dickoy steadily grew worse. His father combed the Internet and wrote letters in the hope of finding an alternative solution. Finally, he was referred to Dr. Alfred Sloanim in New York, who invited them to the United States for consultation. At that time, 19-year-old Dickoy was 5'7" and weighed a total of 60 pounds. Their stopover in San Francisco led directly from the plane to the emergency room because Dickoy was having trouble breathing. It was in San Francisco where they diagnosed Dickoy's disease as it really was: Acid Maltase Deficiency - or Pompe Disease. Pompe Disease is a rare genetic affliction that is caused by the body's failure to produce the enzyme responsible for the breakdown of glycogen into energy. Without the enzyme, the glycogen is deposited in the muscles and causes progressive muscle weakness throughout the body, affecting a range of body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. With many, it has proved fatal. In New York, Dickoy was so weak and ill that they had to bring him to the Intensive Care Unit and hook him up to a breathing machine. He recalls one night when his mother shook him awake, and he saw his father, who was supposed to be in their apartment, sitting by his bedside. "Why are you here, Dad?" he asked. His father smiled and said, "Because I missed you." They told him afterward that he was in a critical state that indicated a possible cardiac arrest. The doctors wanted to open him to insert a tube that would pump air into him directly. His mother refused to make a decision until his father arrived. The commotion came to the attention of the hospital's leading pulmonary doctor, who just happened to be making his rounds. He asked what was wrong, and then changed the settings of the breathing machine. "Call me back in a few hours," he said. In a few hours, Dickoy was stable. Dickoy's stay in the research ward was guaranteed by Dr. Sloanim free of charge - after all they would be conducting their research on him. However, since Dickoy was compelled to stay in the Intensive Care Unit and was too weak for research, his parents feared the inevitability of shouldering the entire of Dickoy's hospital bills. It was at this point that Dickoy's doctor came in. "Don't worry about the bills," he said. "They're on us." Dickoy went on to study in the College of St. Benilde. Although he wanted to be an architect, UP Diliman was ill equipped with facilities to handle Dickoy's particular case. In CSB he studied art design. "I had a normal college life - school, friends, fun, and I passed courses. I liked looking at pretty girls - there were so many." He says he had his first crush when he was in fourth grade. "I saved my allowance for the longest time to buy her posters." He had a sheepish look on his face, so I asked: "Did she accept them?" "She did," he said. "But she didn't seem too happy about it. That's okay. She was in seventh grade - an older woman. Back then one grade above was everything." He told me the story of his one real love. She was an intern at the clinic where he has his physical therapy. During his session she walked into the room and was introduced by his therapist. She offered Dickoy candy. He thought she was sweet. When he found out she had a Globe phone (back then cell phones were rare) he took it as a sign and started texting her using the emergency line his parents had given him. "I justified it by saying that texting girls could be defined as an emergency." He went to therapy more often - "obviously not for the exercise"- and they went out a few times. "Then it became 'us.'" She had to leave for the States shortly after they became a couple. "It was her dream to be a therapist there long before I met her. If you love someone, you let them follow their dreams." They're still good friends. He decided to visit her in 2001, and convinced his parents to let him go. He calls his mom his biggest supporter. His father, once he was convinced, even offered to accompany him and pay for part of the fare. Dickoy put away his money in what he called his "US trip fund." Unfortunately, the airline refused to accommodate him because of his condition. On September 9th, the day he was supposed to leave, he stood in the living room with his luggage, still hoping that the airline would relent. They didn't. He refused to unpack. Two days later, on September 11th, two planes crashed into the World Trade Center - where he was supposed to meet a friend that day. He left for the United States a month and a half later, after he persuaded his mother that there was no longer any danger. He came back thoroughly broke and incredibly happy. "There really is some value to being disabled - you get discounted theater tickets." It was the best month and a half of his life. Right now he says he's focusing on keeping healthy. A few years back, when his father realized that Dickoy couldn't work in a corporate environment, he opened a website designing company called Innov8. Dickoy spent his internship in the company teaching himself the intricacies of computer graphics. When he graduated, Dickoy decided to find himself another job. "I needed to see if I could get a job on my own merit." For two years, he worked as a web designer for I-Ayala, a start up established by the Ayala Group of Companies. Now he works again for Innov8. People ask him why he still works. "I don't think I can look myself in the mirror and say I'm worth something if I don't. I don't make that much, but I still contribute. I pay for my extravagances and my medical expenses, I use my own money when I go out. It gives me a sense of self-worth. I can look at myself in the mirror and say I'm proud of myself. "I know if I go up to my parents and say I'm tired of working, they'll understand. But I can't do that. I don't think any parent wants to see his child wasting his life. Seeing the look on my parents' face when they see I'm working in spite of everything means a lot to me." His message to the youth is a simple one - but it's one that stands out all the more because of what he's made of himself. "We're always taught to be the best. I believe it's true, but that it's only partly true. You can't always be the best - there's only one Michael Jordan. If you keep wanting to be the best a hundred percent of the time you're bound to be disappointed. "My theory is that a person should try to pursue the best he can be. Even if I can't get everything I want, I'll still be happy because I know I tried to my full capacity. I can't fail." Throughout the interview Dickoy talks about "keeping the faith." He says he's not that noble, death is his greatest fear. "I want to have a family," he says. "But I might not live till 30 - then again who knows? I might hit a hundred. I just trust in the Lord." It's difficult to understand where the strength of his faith comes from. He laughed when I asked. "How can I not have faith? Look what I have. I have a mother and a father who love me, a brother who supports me; I have a roof over my head and three meals a day. I have a warm bed when it's cold out and cold room when it's too warm. I watch movies eat in restaurants. I've experienced things other people never have. I've felt true love, even just once. Honestly, I have it better than most people. "Right now I'm in a pretty good position to share God's message: 'Get the most out of life; be the best you can be.'" It was his turn to ask me a question. "Are you familiar with Marshall McLuhan?," I'm a speech major - for once I knew the answer. "He's the one who said that the medium is the message." He smiled and told me about how after the LEAP leaders conference, one of the organizers handed Dickoy a thank you note. She wrote: "Your life is your message." It meant a lot to him. "My message is generic," he explained. "Anyone can say it. But when I say it, people pay attention - because it's my voice going through that mike, breathing machine and all. I'm one lucky guy." And I'm one girl with a bit of a crush on an older man. Hilary's
Story I was born in 1977, and I am currently 27 years old. I grew up in Indianapolis, Indiana and I had a typical childhood. I swam on the swim team during the summertime, and during the school year I sometimes ran track or played on the volleyball team. I also learned how to play tennis, and while I was not a star athlete I played well enough. I have always been tall and thin, and I was the only girl in my dorm at college who was excited to gain the "Freshman 15." I graduated from Colby College, one of the top liberal arts colleges in the nation with a degree in psychology. After initially gaining weight my freshman year, I gradually lost it and visited physicians for digestive problems on and off throughout college. The myriad of tests that I was put through finally pointed physicians in the direction of Pompe’s and I had a diagnosis after six years of wondering what the problem was. Currently, I live in Norfolk, Virginia and I am a private reading tutor for children. I’m newly married and living in a cute house with two great cats, and the cutest Beagle. Being diagnosed in my mid-twenties was difficult. I was starting off my career, I had just started looking at engagement rings with my boyfriend at the time (husband now), and we were looking forward to a cross-country move and starting our lives together. Everything was great, with the exception of my health. In the prime of my life, I felt my worst. Thankfully, with a diagnosis I was finally able to begin some treatment and slowly feel better and stronger. I went to see Dr. Slonim, in New York, and he is not only an expert on Pompe’s, but he is a doctor with a heart of gold. He recommended several changes to my diet and exercise routine which have dramatically improved my health. I feel fairly good about where I am now with my health (this sometimes changes from day to day!), and I don’t really remember what it was like to be "normal." These days my definition of "normal" is different. People that I work with or who I don’t know well, think I am "normal." They would never guess that I have a disease or any type of physical challenge (maybe unless they saw me trying to slowly hike up a mountain!). They would never guess that I have mild sleep apnea and soon may be using a breathing machine while sleeping, or that I have a g-tube (I have a "peg" or "button" which is fairly flat against my stomach for overnight feedings of high protein shakes – Just slap a couple regular bandages over it and I can still wear a bikini to the beach!). Seeming "normal" is something that I am very thankful for. I am glad that people don’t think of a disease when they see me. On the other hand, it makes it difficult for people who know me well to truly understand what my life is like. Since I look "normal" they may not understand why I don’t want to walk up the big hill, or why I don’t want to ski down a black diamond, or why I am tired, or why I can’t simply skip lunch. People react in different ways upon hearing that you have a disease. People that I don’t know well, tend to joke "Gee, I wish I had a disease that made me tall and skinny!" Family and friends are more supportive, but they often don’t understand and I need to give them some insight into what this disease is and how it works. Even my husband, a physician, doesn’t always get it! Due to the rare nature of this disease I have had to become very responsible for my own knowledge of the disease and I have to take information about Pompe’s to every new physician that I see. Between my current cardiologist, pulmonary specialist, genetic metabolic specialist, and gastroenterologist I am their only patient with Pompe’s disease that they have ever seen. I have had to be very assertive with my insurance company as well, which is designed to deny many claims associated with any type of rare disease. I have had to fight for the treatment and benefits that I’m entitled to. One of the biggest changes for me has been learning to put my health first. I’ve had to cut back on work and rearrange my schedule so that I have time to work out every day and not get over-worked. Six mornings a week I exercise for at least 45 minutes. I start with a treadmill routine, and then I try to include some pilates or stair-stepping exercises, and once a week I have pilates with a private trainer. I am 5’10", 120 lbs, I have 60% pulmonary function, I have a feeding tube, and I am right on the borderline of needing bi-pap while sleeping. My overall strength is good, but lately I have noticed my legs seem weaker, especially when it comes to lifting them. Another challenge for me has been deciding when and if I need to tell people that I have Pompe’s disease. I tell people close to me, and I have had to tell a person I work for who questioned why I wasn’t working before 11am everyday. Basically, I tell people that I care about – People whom I don’t want to think I’m lazy or selfish because I have "other commitments" in the mornings. I’m afraid that if I tell people that I don’t know well they will think I am strange. The emotional challenge of a diagnosis like Pompe’s has been tough. I feel cheated out of the life I always imagined growing up. It’s difficult not knowing the course that my disease will take in the future. All I can do is try to work hard every day and try not to let Pompe’s run my life. I spend time relaxing at home, going to the beach, working, hanging out with friends and family, and traveling. I am very lucky to have a supportive family and I’ve learned that while they may never truly understand what I’m feeling, they care a great deal and I’m not alone. Brian's
Story For the first thirty-seven years of my life I lived a relatively "normal" life. I am married with two children (born in 1994 and 1997) and live in Virginia. I never knew I had Pompe Disease until my symptoms first started appearing in 2000. As a child/teenager I was very active in sports and outdoor activities. Although I was always one of the slowest kids on the team I had fairly good skills and could certainly hold my own in most sports. However, I was never very strong and always had trouble on things like the fitness tests that are used in gym classes. I continued to play sports into my twenties and thirties and found playing basketball a good way to stay in shape. The first signs of Pompe Disease that I had were daytime drowsiness. All of a sudden, at age 37, I started falling asleep during the day – at work, while driving, at the dinner table, etc. This started a two-year diagnosis journey that led me through a battery of pulmonary doctors and neurologists, along with two muscle biopsies, and finally resulted in my diagnosis at John Hopkins, where the neurologist’s advice to me was "I’m sorry, there’s nothing we can do". Physically, Pompe Disease has had the greatest effect on my diaphragm muscle and my respiratory function. I cannot sleep without a Bi-Pap and basic physical activity can be difficult. The muscle function in my legs and arms has decreased somewhat, but I feel that I am luckier than most in that I can still get around OK, continue to work 40 hours per week and do some of the basic things that I enjoy. However, as time goes by and the disease progresses even the easier things, such as showering and walking on relatively flat surfaces, are getting more difficult. It may be hard for some to appreciate but Pompe Disease truly does affect just about everything you do. Since I can’t lie down without being uncomfortable many of the fun things in life such as sleeping, relaxing in front of the TV, wrestling with my kids, swimming, are now difficult if not impossible to do. My respiratory problems have affected my speaking ability, impacting my performance at work, my ability to sing and simply put my ability to interact with other people. It can be hard to respond to others without taking a deep breath before speaking and it is very hard to speak clearly and concisely in a spontaneous situation. And, of course, the weakening of the leg muscles has made many things such as climbing steps, moving laterally and doing any kind of physical activity for an extended period difficult. Probably just as hard as to deal with as the physical aspects of the disease are the mental aspects. At various times I suffer from a loss of self confidence due to the fear of being placed in a situation that may be difficult or potentially embarrassing and also a loss of self respect due to my inability to accomplish some of the things I would like to accomplish. I feel like I’m stuck in this nether world in between being handicapped and being normal. I look relatively normal and people may wonder why I can’t do something or shy away from doing something. I am lucky in that I have a wonderful wife that has been very supportive through this whole process and two kids that keep me honest and don’t give me any time to feel too sorry for myself. At least I can still drive because apparently my role as chauffer is increasing! I also have Dr. Slonim and Linda Bulone to thank for educating me about what was happening to my body, taking the time to talk and listen to my questions and putting me on a therapy program to help fight the disease. While I’m excited about the future and the possible therapies on the way I feel like I’ve gone through a change in my outlook toward the disease recently. I feel like I’ve made peace with myself and am now accepting my life as it is and am finding ways to deal with it. If things change for the better that will be great, however, there are too many variables out there that I cannot control and I’m not going to worry about them. Hopefully we’ll all get ERT soon but if not I’m ready to make do. Update--January 2006 John's
Story First of all I would like to apologize for any grammatical or spelling errors as they are the direct result of a public school education (emit laughter here). I am a happily married 39-year-old father of two young children who was diagnosed with Pompe Disease in April of 2005. My physical symptoms began in October of 2002 (an exam for a Life Insurance policy a year earlier revealed elevated Liver enzymes). My legs began to feel kind of “heavy” and I felt fatigued more than normal. I had repeated bouts of fasciculations. I also began to have trouble breathing when I went to bed. Over the past two years I underwent scores of tests including MRI’s, EMG’s, a Lumbar puncture (spinal tap), muscles biopsy and countless blood tests but nothing was found. I did have elevated CPK and Liver enzyme levels but the Doctors were at a loss to explain why at that point. |
