Cutter, Age 3
(3-MCC) 3-Methylcrotonyl-CoA Carboxylase Deficiency
Our first biological child, Cutter Shane, was born September 2, 2004 at 8:29pm in Tupelo, MS. He had quite a traumatic birth, did not breathe for several minutes, and once they got him breathing, we only saw him for a couple of minutes before he was taken to the nursery. We didn't see him again until 1am the next morning. By then he was fine, other than his cone-shaped head. I remember someone vaguely mentioning that he would be given some shots/blood work and asking us to sign permission forms, which we did, even though we had no idea what they were talking about. (We would find out exactly what they were talking about in weeks to come).
When Cutter was two weeks old, we received a call from a genetic counselor asking us to go to our local clinic and have his newborn heel stick repeated.
We thought it was only because his original blood test was done in MS and we reside in TN. So we did just that, thinking nothing of it. Just a few days later, we received another call asking us to have him at Lebonheur Children’s Medical Center, Memphis, TN the very next morning for further genetic testing. At that point we started to panic. Only having been told he possibly had an organic acidemia, I went to the internet to look that one up, and WOW. I was in a much deeper state of panic after having read up on that! So at that point, we thought our child was going to end up brain damaged. After that visit and round of tests, we got a diagnosis at 3 weeks of age. 3-MCC (3 Methylcrotonyl-CoA Carboxylase Deficiency) It may as well have been in a foreign language, because we had never heard of such. But we did get some relief in hearing from the genetic team that most of the negative cases we read about on the internet were due to lack of early diagnosis/treatment. We also learned that the expanded newborn screen which caught Cutter's disorder had only been mandated in MS just months before his birth. Thank God for that!
From that point on Cutter had to be taken to this clinic every month to see a geneticist, a nutritionist and have blood drawn. He was put on a metabolic formula (I-Valex) and we were told he must consume a certain amount of this every day for essential growth and development. And he was started on a Carnitine supplement which he had to have twice per day. We also had to get
a gram scale and weigh all of his baby foods as he could only have a certain amount of protein per day once he started on these foods. I must say, for the most part the first year of his life we were extremely overwhelmed by this disorder, and very protective of our boy! We were terrified someone would give him meat, or high protein foods, so we were afraid to let him go anywhere without us. Although Leucine is the main culprit that would be toxic to his neurological system if too much of it builds up, we have only had to restrict his total protein intake on a daily basis. His nutritionist lets us know exactly how much he can have depending on how each of his blood draws goes at clinic.
The clinic visits got farther apart once they realized Cutter was very stable. We now only have to go every 6 months, unless his lab values are off. We have been so fortunate, and so thankful for newborn screening! If it weren't in place, who knows where we would be, or if we would still have our child. Cutter's genetic team keeps a close watch on him and keeps him on a very strict vegetarian diet. To this date, every pathology report on Cutter has been great! His genetic team is even in awe over how wonderful and healthy he's been. And we are amazed at how dealing with his disorder has become second nature....we're almost pro's now! Funny, looking back a couple years at how terrified we once were.
On May 11, 2006 Cutter's little brother Nate was born. We let Cutter's geneticists know as soon as he was born, and she made a call to state lab to make sure Nate's newborn screen was given top priority since there was a 25% chance he would have it. Odd how it took 3 weeks for us to find out a definite from Cutter's but after Nate's heel stick, we received a call just two days later from Dr. Jewell Ward (Cutter's geneticist) telling us that Nate's results were negative! A big hooray there. Although we were prepared for him to have it....as we were used to it by now.
The biggest challenge has been teaching Cutter what he can and can't have. We decided we would do this early on, so he would be accustomed to his diet by the time he starts school. He is 3 1/2yrs old now, and smart as a whip! He knows he is supposed to have his Carnitine twice per day, and reminds us if we forget! He also knows most all meat sources and won't touch any of them. Nor will he take whole milk...he knows he has to have his I-Valex milk. His favorite food is mashed potatoes. And his next favorite is candy, of course! Lucky for him candy doesn't have much protein! Aside from his diet, no one could guess he even has a disorder of any kind. He is a vision of health. We feel we owe this to newborn screening, and will be forever grateful he was able to be diagnosed at birth and started on dietary treatment right away! We also are thankful for his genetic team at Lebonheur Children’s Medical Center, Memphis, TN: Dr. Jewell Ward, M.D., Ph.D., Chief of Genetics, Professor of Pediatrics, and Director of IEM Screening Lab. And Dr. Joyce Bittle, Ph.D. RD, LDN, Chief of Nutrition, Asst. Professor of Nutrition, Coordinator of IEM Team, Metabolic Nutritionist. We value the wonderful care they've given to Cutter. And we also want to mention the huge appreciation we have for Kathy and the listserve. We have learned more from the information and support of other parents than we ever thought we would!
Thanks to everyone that participates on the OAA list.
Shane, Jennifer, Cutter (3 1/2yrs.) and Nate (22 mos)
Sheridan (13yrs.), and Dakota (15yrs.)