Some of you who know our family well, are aware that a rare disease Maple Syrup Urine Disease (Branch-chain Ketoaciduria) has been a part of our life for 28 years since our oldest son, Jordan’s birth. Many people, even medical personnel do not know what this disease is and, no, it has nothing to do with maple syrup. A simple explanation is this…Jordan’s body cannot metabolize 3 amino acids that make up protein. This results in these amino acids building up into toxic levels in his body, causing brain damage and eventually death. When levels get high enough the urine will smell like maple syrup, hence the name. Ear wax of an affected person will always have that sweet smell whether the levels are normal or high. If untreated, this disease is fatal by 3 -4 weeks of age. Jordan was the first infant diagnosed by newborn screening in the state of Pennsylvania at one week of age and hospitalized for 10 days in Children’s Hospital of Philadelphia. We were blessed to live with 45 minutes of the world renowned Dr. Mortonwho took our son through an extremely difficult illness to full recovery as a 2 year old and kept him in good health until his liver transplant.
There are different types of this disease and Jordan has the most severe kind known as the Classic Mennonite Mutation. MSUD is found around the world at a rate of 1 per 185,000 births. Due to founder effect it occurs in the Mennonite population at 1 per 380 births. Treatment consists of a very restricted diet to keep these children healthy along with prescription formula. Have you ever tried to feed a 20+ year old boy on 10 grams of protein a day? That is were my love for cooking and experimenting in the kitchen began, out of dire necessity. Even with close monitoring, metabolic crisis were common and often resulted in brain damage and death. At the present time the only known cure is liver transplant. Jordan had a liver transplant 4 years ago and has done amazingly well since that. Pictured below is all the MSUD Children who were at the retreat in 2018. Sadly, the young man in the Puma sweatshirt died from complications due to a common cold this past summer.
This weekend is the 5th annual Retreat geared toward spiritual refreshment and encouragement for parents, siblings, and those affected by this disease. My husband and I are on the committee in charge of this event. Our guests have come as far as Manitoba, Maine, etc. Pray for us and the people we meet that we can be a blessing to them.