Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births. Here are just two of our stories of children who have been effected by the disease. Click here to find out more information on how you can help the MSUD Research Foundation. Haley's Story |
Miraj's Story | Letter
From The Grandparents January 21st was such an exciting day for us as we welcomed a baby girl, Haley Su Kohl, into our family. Since she was our first child we had no idea exactly what to expect and no idea what the word “normal” meant. However, we quickly noticed that she was sleeping a great deal and hardly eating. Our initial thought was that we were just not breast-feeding her correctly, as we had been told that it could take babies some time to learn how to receive nourishment in this manner. Nonetheless, our concern grew quickly and within the first seven days of her being born we had made three visits to the doctors office. And, on the seventh day, Haley was admitted back into the hospital. At this point I felt as if my heart was being torn from me, as the possibility existed that our baby was not going to survive. I have never before felt pain that was so intense. Initially the doctors were at a loss. All they could tell us was that she was extremely dehydrated and apparently was having seizures. Over the next four days she got progressively worse as test after test came back negative. By now, Haley was in a comatose state and on a respirator as she was unable to breathe on her own. It wasn’t until day 12 that a second newborn screening test confirmed that Haley had a very rare genetic disorder called Maple Syrup Urine Disease. Although I had no idea what MSUD was, my first reaction was one of relief – now that a diagnosis had bee made, treatment could begin. That relief turned out to be very short lived. 
The geneticist came to see us in the hospital informed us that we would have to fly our baby to the Children’s Hospital in San Diego. It wasn’t that the doctors in Arizona were not qualified to begin treatment but rather it was due to the fact that Arizona’s hospitals lacked the equipment needed to help her. With Haley Su in critical condition, we flew her to California where, for the next three weeks, we watched our daughter fight for her life. We waited and waited – and we waited alone. If ever there is a time you need the support of family and friends, this was it – but those friends and family lived elsewhere. Now, twenty-one months later, Haley appears to have been fortunate and seems to be unaffected (although I’m not sure the same can be said about her parents), much to the amazement of her doctors. Unfortunately, since this is a genetic disease, her battle is not over and will be part of her internal make-up forever. In a nutshell, MSUD means that your body cannot correctly process the protein it ingests. Since everyone requires protein to grow, both physically and mentally, Haley must have the amount of protein she takes in very carefully measured. Too much or too little can have catastrophic ramifications. 
She now needs her blood repeatedly tested to measure the levels of protein, by the very machine that helped save her life. Not having this machine available in Arizona means that we cannot be here and still provide Haley with the level of care she needs and deserves. Our mission is to change this situation in Arizona, for Haley and for anyone else with this dreaded disease – to help them and their families. No child, and no family, should ever have to face what we did in a strange place, without the comfort provided by those in our personal support group. Changing the level of healthcare provided in Arizona is a big problem but one that consists of many small parts. Being able to have an Amino Acid Analyzer available for children with MSUD and other metabolic disorders would be a very important step in the right direction. There will be over 200 families who will benefit immediately from this machine. Additionally the machine will be used for countless numbers of children to rule out the possibility of a metabolic disorder. In the early morning of June 8th 2000, our first child, Miraj Parshotam was born. Everything seemed perfect, for Miraj was a healthy boy. However, we quickly noticed that Miraj was hardly feeding, and would sleep several hours. Our initial reaction was that we were not breast-feeding him correctly, as we had been told that it could take babies some time to learn how to receive nourishment in this manner. 
Our worries were confirmed when we received a phone call from the doctor on the seventh day. The doctor informed us that the newborn screening test came back positive for a rare metabolic disorder called Maple Syrup Urine Disease. On that day, Miraj was admitted to the Neonatal ICU. Over the next few days, Miraj had fallen into comatose state and had numerous tubes hooked up to his body. Although I had no idea what MSUD was, my first reaction was one of disbelief –I was scared, confused and most of all feared the life of my newborn. Images of my new family I had dreamt about, I feared would never become reality. The doctors were unable to care for Miraj properly due to the fact that the closest Amino Acid Analyzer was in San Diego, California. This Amino Acid Analyzer tests Miraj’s blood levels, which are critical for his physical and mental well-being. 
The geneticist came to see us in the hospital, informed us that we would have to fly our baby to the University of San Diego Medical Center. This was due to the fact that Arizona hospitals lacked the necessary equipment to care for our baby properly. With Miraj in critical condition, we flew him to California where, for the next three weeks, we watched our son fight for his life. We were alone at this time. No friends or family were there to support us in our time of need; for our family lived in another state. Since Miraj’s birth, he has been admitted to the hospital seven times with stays ranging from five days to four weeks. In addition to these hospital stays he has been in what is called a metabolic crisis at least twenty-five separate times that we’ve managed to care for him at home. Each time his body is in a metabolic crisis, meaning the level of protein in his body is off, his brain is swelling and some level of brain damage is occurring. At the age of two, Miraj stopped eating and became underweight. His intake of food became low and drank little to none of his daily formula. Due to this, we had no choice but to surgically place a g-tube, which is connected directly to his stomach. With this g-tube, Miraj gets his required amount of daily formula. So far, our Miraj has been lucky as there have been no signs of permanent damage. He will be turning four years of age this June and appears to be right on track developmentally wise.
© 2003-2005 MSUD Research Foundation -
PO Box 2512 -
Gilbert, Arizona 85299 |
