As we all are well aware, having children such as ours requires a lifetime of attention-to-detail and a never-ending commitment to learn. For most of us, our children's lives begin with us in shock and in a perpetual state of "what if I do it wrong"? We look to our doctors and the support group to answer all of the thousands of questions that arise from having a child with special needs. As time passes, and our children age, we develop a greater understanding of the care they require after experiencing illness, growth spurts, and the simply unexplainable fluctuations of leucine levels. In short, we the parents become the knowledge brokers to help facilitate the doctors and nutritionists ability to heal our children.
Like any parent, I am involved in all aspects of my son Jakob's life, and I am always searching for new information on MSUD, genetics or anything applicable to his disease. I have developed a close working partnership with his nutritionist, Kathy Camp, at Walter Reed Army Medical Center in Washington DC. In light of our relationship, Kathy asked if I would be interested in presenting Jakob's case, "a snapshot in the day of," sort of thing, to a group of Dietetic Specialists at the American Dietetic Association Convention in St. Louis, Missouri, October 20, 2001. Since my husband and I are originally from St. Louis, and it was a chance to educate others as well, I put aside my fear of speaking in front of large groups and agreed. The specific class that I would be speaking to was titled "Applying Genetic Principles to Dietetic Practice."
My portion of the class was twenty minutes - focusing on my perspective of MSUD and how dietitians can, and have been, helpful to my family and me. With this as my guideline, I chose to concentrate on the importance of the Nutritionist in helping to manage Jakob's disease. (Have I said before that I am not comfortable speaking in front of groups of people?) I was very nervous in the days prior to the conference and rehearsed ahead of time what I wanted to say. My husband kept telling me that I could talk for hours on end, in intricate detail, about Jakob and MSUD. He said the most difficult part would be getting my point across in only twenty minutes. Still, nothing like being prepared. I practiced and practiced, I brought along pictures and I discussed the "tools of the trade:" formula, mixing equipment and scales. I also came armed with a handful of Newsletters and brochures courtesy of Joyce Brubacher!
Beginning to speak, it was hard to fight back the tears as I outlined the diagnosing process we went through with Jake. I realized that after two years I am still healing from that experience, and I have not fully worked through all of those issues. Next I spoke of the daily stress that we as parents live under and how much trust we place in the "professionals" that treat our children. More than anything, I wanted to convey to the attending nutritionists and dietitians the need to listen to the parents and for them to treat the patient, not just the disease. I wanted them to know that each child with MSUD is different and has their own specific needs from treatment. We as parents watch our children grow and observe the slightest change in behavior or even the onset of an illness better than anyone else. We are the advocates for our children and we must be included in their treatment.
It is daunting to show a group of educated, medical professionals that "thinking outside of the box," by including parents with little or no formal medical training, is really in the best interest of the children. I know that I was successful due to the number of conference participants who approached me when the lecture was over. To a person, they thanked me for speaking, they asked more in-depth questions, and some of them were as misty-eyed as I had been when I first began to speak. Knowing that I was able to reach people and help them understand a complex problem, and knowing that they in turn will use that knowledge to the benefit of others with MSUD, helps me in my own healing process.
Jakob will be two years old on the 27th of January and my husband and I have learned much in that time. Like many of you reading this, we feel frustrated at times with family and friends who "just don't seem to get it" when it comes to MSUD. Combine that with the misinformation that often gets reported in the news,* and we realize that we all need to be advocates. Each doctor, nutritionist or dietitian we make smarter is one less child that will be at risk because of MSUD. I may not get the opportunity again to speak in front of such a large audience about Jakob or MSUD. However, I will continue to learn what I can and I will share that knowledge with whoever should seek it.
*An article in the St. Louis Post Dispatch, (1/6/02) reported on Dr. Hillman's metabolic clinic in Columbia, Missouri and the simple "cheek swab" DNA testing done in his laboratory to detect the Mennonite mutation of MSUD. Some information in the article was inaccurate and misleading. It did a great disservice to the Clinic at the University of Missouri.