Celeste Battle, California
The MSUD Newsletter, the web site and the eGroup are life-savers for the family with a child having this genetic disorder. My son Brock is 23 years old with Classic MSUD. We spent many years feeling very isolated, as if we were the only family dealing with MSUD. Then we were told about the MSUD Newsletter by a physician at Buffalo Children's Hospital. Life got easier knowing there were others just like us! Sharing and learning helped us survive. Now we have the web site and the MSUD eGroup to help us.
I have learned so much from communicating with others about this disorder. After all these years, I am still learning about MSUD, the effects of certain medications on the amino acid levels, gaining new ideas on managing illnesses and mood swings, etc. This group is a lifeline, a sounding board, a question and answer board filled with outstanding, objective information and true life experiences which are the best learning tools. My heartfelt thanks go to all who contribute information. I for one would not want to be without this eGroup and the Newsletter. They make difficult times so much easier to handle! Thanks to all of you.
Sandy Kiel, Michigan
I enjoy the eGroup because I face so many problems and ideas every day. It's like having your neighbor over for coffee to discuss your kids; only our neighbors are across the world, and our kids have very unique problems. We all share the same goal - healthy children - and want to help each other reach that goal. It's a big comfort to know there are many others struggling with the same issues I struggle with every day: formula, nutrition, food likes and dislikes, and hospitalizations. We are able to draw on each others' experiences, which is invaluable. The group is more than an exchange of information. It is support and encouragement for each other.
Nikolai Rudd, Massachusetts
What I have found to be most interesting in being part of the eGroup is the information on problems people are having, especially the older group of persons with MSUD. We seem to be having problems we had not encountered when in our teens. From those participating in this group, I've learned that we older ones experience similar symptoms. So, when I had appointments with my doctors, I was able to give them information about others who were experiencing the same problems.
As an adult, I feel we are the guinea pigs of this disease. No one really knows if other problems will arise in the future because of something lacking in our diets. It is encouraging when I read about the plight of other people and together we try to figure out what may be happening. In a sense, we are like the characters on "Dark Angel."
We are encouraged to believe that our diets are doing what they are intended to do, but are they? We need to share experiences with each other more frequently than every two years at the Symposiums. Changes are happening during those two years. Are others also finding they are becoming ill more easily? Are they having chronic back pains and other chronic problems?
I find it both encouraging and somewhat alarming that a lot of the older MSUD persons are experiencing symptoms of "anxiety disorder" as I have experienced. This is an issue that we should not take lightly, even though it is a common disorder, and may not pertain to MSUD at all. As a group, we need to examine the possible connection to MSUD so the next generation of adults will be able to prevent this problem and others.
Calling everyone to discuss problems costs more money than I can afford. So I am thankful for this group which allows each of us to freely express ourselves and even help others. My only regret is that there are not more teens/adults using the eGroup as a resource. But if any one has questions that they'd like to ask about school, sports, fitting in, etc., I'll be more than happy to help answer them as I'm sure the other adults would too. Feel free to use us as resources at the Symposium. Chances are, I'll use you too.
Monica Falconer, Alaska
After our first son was diagnosed with MSUD - a condition we had never heard of before - we felt alone, scared and insecure. But this feeling only lasted a few weeks. Soon after we came home from the hospital with our recovered son, we sat down at our computer and looked for the MSUD Support Group we had been told about at the hospital.
We wrote an introductory message to the MSUD eGroup, and, to our surprise, half an hour later we received at least four messages from families welcoming us and letting us know that they were there - somewhere in the country, maybe living far from us, but always only a computer screen away. It was an amazing feeling of support right away.
I remember that when we received those messages we felt good for the first time since we were told of our son's diagnosis. Now we know that we have families, friends, persons who are there for us with information, or to help us find the answers to all our questions, to give us the support that we all need.
We had never been told about the DNPH solution as a way to check for elevated levels of leucine. It was through the eGroup that we first heard of it. Despite our doctor's reluctance, we were determined to give it a try. We no longer have to be "in the dark" when our son's behavior changes, but can use DNPH to see if it has something to do with his elevated amino acid levels.
The MSUD group is like a second family to us. A family that we keep in contact with very frequently, a family that we think of daily, and a family that we love, appreciate and are very proud of. For families with relatives with MSUD, we highly recommend that they join the eGroup. It's just great!
Denise Pinskey, Michigan
I love having the MSUD eGroup. It's great to ask other MSUD families questions and get a quick response. Sometimes it is very hard to explain the disease to our family and friends and get genuine understanding. When I have a question, I know everyone in the eGroup will give an honest opinion from the MSUD perspective.
Patty Swenson, Colorado
I have found the MSUD group e-mail very valuable. Even though we have been living with Classic MSUD for 31 years, there is still so much to learn. We were able to start using isoleucine and valine supplements last year as well as DNPH for the first time. So even though I am an "old-time MSUD Mom," I was new with supplements and DNPH. All of the MSUD parents in the group helped me to completely understand and use the newer tools to manage MSUD. It has been very supportive to have other parents helping when you have no one else to talk to about MSUD. I find the eGroup helpful and supportive. Thanks!
Melisa Carr, South Carolina
The MSUD eGroup has been a very big help to me in learning about MSUD. Through questions and comments made in the e-mails, I found out several things that have improved the quality of life for my child Karena who is now 17.
Karena was diagnosed with variant MSUD at the age of 15. The doctors told me it was something they reviewed in medical school, but they were told never to expect to see anyone with the disease. I went to the Internet in search of information regarding her diagnosis. I was led to the MSUD web site and have been reading ever since.
Karena was in a psychiatric hospital for severe auditory, visual and tactile hallucinations. I was told that I should put her in an institution, that I would never be able to take care of her. She was on multiple psychotropic medications. She was not able to take care of herself; she drooled constantly from side effects of the medications. She had severe tremors of her hands and stared into space most of the time unable to comprehend what was going on around her. She had an MRI done at that time to check for possible causes of her mental and physical deterioration. The MRI showed changes in the white matter of her brain. This led the doctors to do a spinal tap. The diagnosis of MSUD was revealed in the tests run on her spinal fluid.
Karena was started on the protein restricted diet and an MSUD formula. This was an extreme adjustment for her; she was no longer able to eat whatever she wanted. She hated the formula. That was a battle I dreaded three times a day, every day. She would gag and vomit as she tried to drink it. We tried every product available. She now takes the amino acid complex blend mixed in apple juice twice a day.
I had, at one point, asked the eGroup if any other children had hallucinations. Many responded that there were times when their children's levels were high that they talked about seeing objects that were not there. With this information, I began to keep a close watch on Karena's levels to see if they correlated with her hallucinations. I noticed that she only experienced hallucinations when she was sick or her levels were high.
In March, after several months of monitoring, I talked with her doctor about my observations along with the information I had gotten from the eGroup. I asked that we try taking Karena off her anti-psychotic medication. She was weaned over a four-week period.
A week after she was completely off the medication, her tremors were gone, although she was still groggy most of the time and not able to stay on task. Not too long ago, I learned through the group that valproic acid should never be given to people with MSUD. Karena was on a large dose of Depakote SR, an extended release form of valproic acid. She was always lethargic and extremely irritable. At times she would not eat well, and her levels were always low. I informed her doctor about what I had learned through the eGroup, and she agreed to try Karena off the medication. This was about six weeks ago.
Since that time, Karena is much more alert. She is able to stay on task, complete her school assignments, and is going to start attending regular classes this fall. She has been on homebound schooling for the past three years and was making no progress. The teachers had labeled her as non-educatable. They were suggesting that we give up and allow her to complete high school this year with a certificate of attendance. Now she is eligible to start working towards her diploma again, although she will start slow. It will be four more years before she will have enough credits to graduate.
I share the valuable information I obtain from the eGroup with Karena's doctors and dietician. I feel that personal experience and sharing are the best tools for learning. There is a lot to learn from one another. I am grateful to all of the participating members for sharing their knowledge and experience, and I enjoy reading the e-mails I receive.
I hope that some day I can share the type of valuable information that I have gotten from this group and make as big a difference in someone's life as they have made in ours. Thank you.
This eGroup has been very active this past year and covered many subjects. Parents ask: How do you get a child to drink the formula when they refuse? Do other children with MSUD have problems when it is hot? How do others mix their formula so it is well blended? What new low protein foods are well liked? How have others reacted to anesthesia? Many other topics have been covered and each person learns from the responses.