Jordan is 23 year old young man who was born with a rare, genetic, metabolic disease known as Maple Syrup Urine Disease (MSUD). The name is derived from the sweet smell in the urine and ear wax of an affected person. Jordan’s body is unable to metabolize three of the 20+ amino acids that make up protein, causing them to rise to toxic levels in his blood. These toxic levels lead to death in an undiagnosed infant by two to three weeks of age. Many children and adults with this disease live impaired lives because of not being diagnosed quickly and treated properly. Mental retardation and physical handicaps are common among affected persons.
Jordan was diagnosed at 7 days of age through Newborn Screening, hospitalized with brain edema and elevated amino acid blood levels. The only treatment at that time was a very restricted diet consisting of specialized prescription formula and protein free foods. Close monitoring was required by biweekly blood tests and adjustment were made as needed to maintain his amino acids at proper levels in his blood. Childhood illnesses such as the common cold and ear infections can be extremely difficult for an MSUD child causing them to be hospitalized quite frequently with elevated levels. As blood levels fluctuate this causes varied degrees of swelling in the brain leading to complications and death. As a two year old, Jordan spent 100+ days in the hospital and was the first MSUD child to survive severe cerebral brain edema complications. He has been hospitalized several times since that episode but it has never been with the complications he had at 2 years old. Any illness/colds requires extensive care to prevent Jordan from going into a metabolic crisis. He must drink double the amount of formula, drinking every 30 minutes and reduce his protein intake to less than 1 gram a day. Even that sometimes will not keep his levels from elevating. A vomiting episode will quickly send him to the hospital for TPN IV.
In dietary terms, to keep Jordan’s blood level in proper range; he consumes food equal to 10 gram of protein a day. An egg has 6 grams of protein. His diet is devoid of any meat, egg, or milk products and certain vegetables. Specialized protein free foods are required to give him a complete diet which are very costly. A daily diet consists of 64 ounces of formula, 10 grams of protein through certain vegetables and fruits and enough specialized food to equal 2000 calories. If he does not receive enough of calories his body will pull protein from his muscles resulting metabolic decompensation. Any type of strenuous activity can lead to elevated levels. A handful more of potato chips than what he is allowed will elevate his blood level.
In 1997 an MSUD child received a Liver Transplant due to liver failure from Vitamin A toxicity. It was then realized that liver transplant brought the amino acids into the normal range within 6 hours of surgery and kept them there even when a regular diet implemented. No longer was there a need for the costly prescription formula and specialized foods. Illnesses, broken bones, etc. could be cared for without the complications of elevated blood levels. Metabolic crisis, acute and chronic neurological complications were no longer a threat to these children. Since 2004 there have been 53 MSUD patients who have had liver transplants with 100% success rate. The cost to maintain an MSUD patient, including specialized food and formula is approximately $12-15,000 a year. That does not include any hospitalizations. It has been proven that liver transplant significantly reduces the overall expenses.
As Jordan’s parents, we have waited to see what the overall success of the Liver Transplant in MSUD will be. In April, we, along Dr. Holmes Morton, who is the world expert on MSUD from the Clinic for Special Children, discussed what would be the best option for Jordan’s health. Since that meeting we and Jordan feel that a liver transplant is needed to prevent further brain damage and to give him a better overall care. This has not been an easy decision as we realize it is a huge undertaking and also costly. We as a family covet your prayers as we go through this process.