Sandy Bulcher, Ohio

Last month was a trying, yet educational time for our family. Jordan our 4ΒΈ year old son with MSUD was sick from a viral infection. I was in contact with Jordan's dietician, Julie Jacobson and Dr. Allen from the University of Michigan Hospital and was hopeful that his levels wouldn't elevate significantly. Unfortunately, he awoke the following Sunday morning irritable, ataxic, and with slurred speech. He was admitted to our local Children's Hospital and it soon became obvious that his condition was deteriorating. The medical staff communicated frequently with Dr. Allen and it was decided that Jordan needed TPN.

TPN is the abbreviation for total parenteral nutrition and is an effective means of lowering the leucine level. It is an IV solution that provides adequate nutrition and calories without the branched-chain amino acids. After some research, the staff located a 3 day supply at Children's Hospital of Philadelphia. The solution was sent to us via plane and Jordan was started on the TPN.

To our amazement, Jordan became more responsive, less ataxic, and spoke more clearly within hours. Since this incident, the pharmacy staff at our local hospital has gathered data about the TPN, so they can obtain it as quickly as possible if needed in the future.

This was our first experience with TPN and clearly Jordan's recovery time was shortened. I feel a sense of comfort knowing that it is available and very effective if Jordan should need it again. I would encourage everyone to discuss TPN with their doctor and educate themselves also.

Leon & Dianne Kennedy, Michigan

Joyce asked for a paragraph on our experience with MSUD TPN. Actually we have had to use it twice for Lewis, and I would highly recommend it when an MSUD child gets sick with vomiting and is not responding to the usual treatment.

Both times we have used it for Lewis, he was very ill. The first illness was apparently triggered by an infection, during the second one he just started falling asleep at his desk at school. By the time I picked him up and got him home, he was vomiting. We took him to our local hospital (after contacting Dr. Allen). We got the usual run-around there as they always want to wait and see if the child will quit vomiting on his own. I think maybe they feel it is just the flu or something.

Anyway by seven o'clock in the evening, Lewis could not walk, sit, or hardly hold his head up. The hospital had started an IV which wasn't doing a thing. Dr. Allen told them how to get the TPN (or ordered it for them). It took about 24 hours to get it. Within eight or ten hours on the TPN, Lewis was sitting up watching cartoons. The doctor in ICU called it "miracle juice."

Carl & Sandy Kiel, Michigan

We had two experiences where we used the MSUD TPN for Jenna. The first was as a newborn. Although Jenna was caught by newborn screening, she was suffering severe signs, such as loss of sucking reflex, very fussy and irritable. By 10 days of age she had a slight seizure and was near comatose. She began on the TPN at 10 days of age at the University of Michigan Hospital. They had the TPN available there because the Kennedy's Lewis had used it two weeks prior. After two to three days on TPN, Jenna was responding much better and we were able to come home after only one week!

The second time was when Jenna was almost three years. She contacted the flu. She had vomited Monday, and I fought hard to keep her drinking well so she would not become dehydrated. She seemed better some days, but by Friday she just lay around very quiet, not playing or talking, just sleeping. Dr. Allen arranged to have the TPN shipped to our local hospital. It took 24 hours after we checked into the hospital for it to arrive and Jenna to start receiving it. Within 24 hours on TPN she was once again talking, sitting and by 48 hours was back to normal.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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