Jesse and Jason are twins. Jason has MSUD, Jesse does not. Following is an account of Jason's diagnosis and progress as written by his mother, Deborah Kendall in a letter to me on Jan. 9, 1993. Thanks for allowing me to share this with our readers, Deborah.
I have been in possession of a Newsletter from your group for quite some time, but have been hesitant to write. The following is a brief history of our experience with MSUD.
Jason was born October 10, 1989 at 30 weeks gestation. He was second of twins and our fourth child (all boys). His first months were marked with what, in retrospect, were classic symptoms of the disease (poor feeding, lethargy, unresponsiveness, irritability, etc.), but all his symptoms were written off to prematurity. His progress was always a little slower than his brother's, but the difference became more pronounced at approximately 15-18 months. By 22 months, our doctor (family practitioner) felt that Jason's developmental delay was severe enough to warrant evaluation by a specialist. ( I had asked about the strong odor of body fluids a couple of times, but was told it was probably due to "body chemistry.")
The neurologist we were referred to (Dr. Joseph Casadonte, All Children's Hospital, St. Petersburg, FL) ordered a number of tests, including a CT scan and an MRI, both of which indicated a metabolic disorder. After several blood tests, Jason was diagnosed with MSUD, and we were referred to Dr. Terry DeClue, a metabolic specialist at the University of South Florida, Tampa. Dr. DeClue gave us a more detailed diagnosis of Intermediate MSUD with enzyme activity of 1%. Both Dr. DeClue and Pilar Goldstein, Jason's dietitian, have been God-sends. They have been with us each step of the way and are always available to help with any problem or to answer any question no mater how trivial.
Because Jason was diagnosed at such a late age (2 years), some permanent damage had already taken place. We do not know his long range developmental outlook. When diagnosed at 24 months, Jason tested at approximately a 9 month level, developmentally. After starting treatment, the change was immediate and very dramatic. When re-evaluated at 36 months, he tested at approximately a 22 month level; so his progress thus far has been very good.
We pray that Jason's health will continue to be good; no illness related hospitalizations since birth, only minor illnesses; and that his developmental progress will continue at its present pace. We include him in all of our activities and strive to make his life as "normal" as possible. Jason is a great blessing to us and has taught us that sometimes the Lord sends his greatest blessings through our worst experiences.
We would be interested in hearing from other families whose children were diagnosed at a later age. We are interested in how their developmental progress compares with children who were diagnosed at an early age. Also, if there are any other "home school" families in the group, we would love to hear from them. We are looking forward to hearing from you and being a part of the support group.
Family Histories - Jason Kendall