When I met Cindy Blau at our Symposium '96, I assumed she was the oldest living person with MSUD. I had read about her in medical articles, where she was described as the first person to be treated for MSUD. She was born in 1959.
Then Emily contacted our organization earlier this year. When I saw her Newsletter subscription form, I was astonished to see that she was 39 years old. It seemed incredible that there was someone with MSUD who was older than Cindy. I just had to call her, and was immediately impressed with her soft, articulate voice and her interest in our organization. Emily and I have been getting acquainted through e-mail ever since.
Emily was quite willing to share her story and some of her art work with us. When I read her story, it deeply affected me. Her childhood was so sad and she endured much suffering. It is amazing and a tribute to her fortitude that Emily maintained her own diet restrictions without much help for so long. I look forward to meeting her at our next Symposium.
Maple Syrup Urine Disease was identified as a disorder in 1954. I was born in 1957, on August 24 - the third child of four. Both my younger brother and I were born with MSUD.
My two older siblings had normal metabolism. I have almost no visual or audio memories of my childhood before the age of 6, only emotional/ feeling ones. For example, drinking filtered apple juice always causes me to cry - I suspect that this is because of an unconscious association I formed between being fed filtered apple juice and being hospitalized frequently as a baby. I have never sat down and written about my life in the context of living with MSUD - I hardly know where to begin, what to tell you or what to skip.
My parents had me when they were in their late twenties. They had met in medical school. My father became a doctor. My mother completed her third year of medical school but then dropped out when she had her first child, never to return and complete her M.D. My father battered my mother for almost the entire 13 years of their marriage. He was also often very violent towards his children. My parents were in the midst of their divorce when my little brother died from brain edema due to the MSUD. He was four years old when he died, and I was six. His death resulted from a poorly done tonsillectomy - he was not stitched up properly and so blood kept leaking into his stomach. This heavy influx of protein into his body caused him to lapse into a coma - he died after being on life support for approximately 72 hours. My parents never told me that David had died from the MSUD. It wasn't until I was about 30 that I found this out through reading a medical journal article which discussed myself, my little brother, and several other kids with MSUD.
I was a healthy baby, showing no signs of MSUD, for about the first six months of my life. My mother always attributed this to the fact that she breast fed me for those first six months. It wasn't until my mother took me off of breast milk and started feeding me cow's milk that I became very ill. Doctors were absolutely baffled as to what could possibly be causing me to be so sick. The slightest infection or cold would cause me to lapse into a coma for several days on end. I was constantly being sent off to hospitals, sometimes as far away as 100 miles from home.
It wasn't until I was about 1, years old that doctors finally diagnosed me as having MSUD. My parents had noticed a sweet smell to my urine and ear wax, and this proved to be an important clue. Many medical procedures were performed on me in attempts to come up with a diagnosis, as well as to keep me alive. As a baby, I had holes drilled into my skull because doctors thought I might be passing out all the time due to a brain tumor - the holes were meant to relieve pressure on the brain. In my later childhood years, my family often teased me about having had holes drilled in my head. Because of how they joked about it, and how unbelievable it sounded to me, I had always assumed it couldn't possibly be true. However, when I was in my thirties, I was getting my hair cut one day and my hairdresser mentioned to me that I had two long parallel scars on the back of my head. The first words out of my mouth were, "My god, it's true."
As a young child I remember feeling extremely ashamed of what I ate. I have vivid memories of lunch time in grade school. I would sit with all the other children at those big cafeteria tables. I brought my lunch from home and it was the same every day - two slices of white bread with mayonnaise on it and a separate plastic baggy with head lettuce in it. I would have to assemble the sandwich myself at lunch time. I was so ashamed of eating differently from the other kids that I would always assemble my sandwich under the table so that no one would see what I was eating. I knew that other people put lots more things on their sandwiches and I felt ashamed that mine was so lacking. I remember always feeling afraid and anxious that someday somebody would see me putting my sandwich together under the table, notice what I was eating, and treat me mean because of it.
I have memories from when I was about six years old of staggering down the hallways at home, banging into walls and feeling very confused. In retrospect, I understand that I was suffering from ataxia due to the MSUD. To my recollection, my parents never took me to the hospital or got me medical help during those times.
My father remarried when I was about seven years old. My stepmother cooked meals for the family every night, but never made it a point to prepare foods that I could eat. I remember, night after night, walking into the kitchen very quietly after all the other family members had sat down in the dining room to begin their supper meal. I would look at the food on the kitchen counter to see if there was anything I could eat. (To my recollection, my parents never tried to help me or teach me what foods I could or could not eat - except I knew that I should not eat meat. I instinctively gravitated towards starches, high carbohydrate foods, and low protein foods). From the food on the kitchen counter, prepared by my stepmother, I would usually not find anything I could eat. As a child, I remember thinking to myself at those times, "If only I would just eat normal like everybody else there wouldn't be a problem here - it's only because I'm choosing to not eat what everybody else is eating that there's no food for me to eat at dinner."
There was one thing that I knew how to cook at that age (because I had watched my stepmother make it sometimes) and that was Potato Buds. So I would reach up into the cabinets and get the box of Potato Buds to make my dinner. I would do this as quietly as possible for fear of offending my stepmother. As a child I thought she would interpret my making my own dinner as an insult to her. I was afraid she would think that the reason I wasn't eating her food was because I thought she was a bad cook. This dinner ritual played out every single night from about the age of 7 to 19 when I moved out of my stepmother's house (my father was dead by then - he committed suicide, secondary to terminal cancer, when I was 15).
Occasionally, my stepmother's relatives came over for dinner and they would usually ask about me. They would ask why was I eating so little food, and why I wasn't filling my plate with all the foods that everyone else was eating (especially the main dish which was always some kind of meat). My stepmother would respond, in a sort of disgusted tone of voice, "Just ignore her, she's weird." My father would remain silent - he did not intervene. Also, probably out of concern for my health, my stepmother's relatives would ask why I had such dark circles around my eyes (I always had huge dark circles around both eyes). My stepmother would respond in a snapping tone of voice, "She's always been that way." End of conversation. Again, my father would remain silent - he did not intervene.
As a young adult, I didn't "get it" that I really did have to eat differently than other people. My mother often told me that I had outgrown the MSUD (meaning that it was no longer necessary for me to keep a special diet). And I mostly believed her, although I did have some doubts. Consequently, I periodically banged into walls (figuratively speaking) throughout my twenties; I would get sick, but not realize that it had anything to do with my diet or the MSUD. At the prompting of my therapist, I decided to have a skin fibroblast study done, to see if I did still indeed have MSUD. I was 30 years old at the time. The re- diagnosis confirmed that I had MSUD and that my metabolic rate for the three offending amino acids was only 5% the rate of normal. At the age of about 35, I met with a dietitian (for the first time as an adult). She was very instrumental in helping me with my diet, and she also referred me to a doctor who is very knowledgeable about MSUD. I am forever grateful to her for this. She was also the person who mentioned that there was a support group for MSUD and that they had a newsletter.
Curiosity got the better of me, as it always does, and one day I searched the web and found the site for the MSUD Family Support Group. I printed out the subscription form and mailed it in that very same day. A few days later, Joyce Brubacher called me . . . and we talked and talked. I've very much enjoyed getting to know Joyce and I'm happy to have found this group.
In terms of diet, the foods that I can tolerate have changed over time. As a child, when I was very active and growing so much, one of my favorite things to drink was big glasses of chocolate milk (with tons of Nestlé Quik in it). I would NEVER do that now! I also used to drink milk shakes up until my late twenties, but I had to stop doing that when I got to be about 30 since it began to almost make me pass out. As a young adult, I could eat pizza, but I am no longer able to do this since the cheese no longer breaks down in my mouth - it's just like trying to eat bubble gum.
Although my metabolic rate, for the three offending amino acids is only 5% the rate of normal, I have never had to use MSUD formula in my diet. I recently learned that MSUD formula did not even exist when I was a baby. In fact, MSUD formula was not commercially produced until I was a teenager. One of my safeguards for holding the MSUD in check is to always eat in small quantities - that way, if I do have a bad reaction to something, at least it won't be as bad as if I had eaten a larger portion. Also, there are foods I can tolerate (such as milk, eggs, and cheese) as long as I eat them in small quantities and in combination with other foods; but I do not tolerate them very well if I eat them alone or on an empty stomach. My diet, which works very well for me, is the result of years and years of experiential learning, none of which I've done in an exacting, quantifiable manner. Rather, it's been a process of trial and error coupled with careful and intuitive observation.
I have worked with therapists for many years to heal from a myriad of emotional and psychological scars, most of which are related to living with a life threatening disorder and growing up in a very abusive family. I am currently in therapy to work on issues related to the MSUD.
Living with a life threatening illness isn't all bad - it has had some very positive impacts on my life. For one, I feel passionate about life and wake up excited to see a new day. Having come so close to death, hundreds of times over, has shifted my baseline of measurement as to what is difficult and what is easy in life. Things that other people get all worked up about tend to not phase me very much. Also, the extra challenges in my life have led me to develop a good sense of humor, as well as to be resourceful, self-nurturing, patient, persevering, imaginative and creative.
When I was 37, I became very ill and did not fully recover for about eight months. Exercise was absolutely essential to my recovery. I joined a fitness club and began a regular routine of aerobics classes. At first, I could just barely manage to do this without passing out during class. But gradually my health got better and better. Since then I continue to go to aerobics classes two to three times a week and eat very carefully. I think that exercise helps the body get rid of toxins more quickly than it otherwise would. For someone with MSUD, this is an important consideration.
When I had become so ill at 37, I was too weak to continue working full time, and I was granted a reduction in time to 90%. I was a supervisor at that time. In February of the following year, I received notification that I would soon be demoted - that I would no longer hold a supervisory position in the office. This was very upsetting to me and I decided to contact a lawyer. I found a lawyer who agreed to take my case and we proceeded to work together for about the next 4 months. With my lawyer's assistance, I filed a grievance against my supervisor, charging discrimination based (in part) on disability, and subsequently I won reinstatement of my supervisory duties. Before working with a lawyer, I had never thought of myself as "disabled." I had simply thought of myself as someone with MSUD. Through working with her, I learned about the laws that protect people with disabilities, such as the ADA, FMLA, and the Rehabilitation Act. Working with my lawyer was extremely transformative for me. It amazed me that someone would actually protect me due to the MSUD. I bonded quite strongly to her and completely inundated her with thank you notes, flowers, and artwork (including a veritable flock of origami birds). Working with my lawyer has been one of the best experiences in my life, and it is one that I will always carry with me. In the words of Tracy Chapman, "I've met angels."
In closing, I'll give a brief overview of my educational background. I graduated from high school at the age of 16; I was an advanced learner and hence I was able to skip a full year of high school. I started college at the age of 18 and went on to earn a B.A. degree in studio arts with a minor in mathematics. After finishing my undergraduate degree, I entered graduate school in architecture and completed 3 years of full-time study in that field. I did not complete that degree primarily because of financial difficulties, and secondarily because I believe that truly fine architecture is a lost art. This September, I have begun graduate school in computer science and engineering at the University of Minnesota. I'll take one class per quarter and continue to work full time designing relational databases and web sites.
Art has always been very important to me. There are times when it serves as a container for emotions (such as panic and terror) that would otherwise completely overwhelm me. Art has literally been my lifeline at times when I was terrified I would die.
I welcome people to get in touch with me and I look forward to seeing all of you at the 1998 symposium. Be well.