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Family Stories;
Vincent John Sanchez

Methlymalonic Acidemia, mut 0, Age 19 months

After 19 hours of labor on February 19, 1997, we were blessed with Vincent John Sanchez. Our beautiful baby boy came into this world weighing 8 lbs. 4 oz., 19 1/2 inches long. I remember looking into his big beautiful eyes and thinking that I finally understood this "instant love " thing that mother's always talk about.

The pediatrician came to us the next day and told us that Vince was a very healthy baby boy, and we would be released from the hospital the following day. The next day came and I dressed Vince in an outfit it took me months to pick out, and I was ready to go home and start this mother thing that I had no idea about. As we were waiting for my husband Aaron to come take us home, an angel walked into our room, a nurse named Faith. Faith looked down at my baby boy and noticed that he was breathing a little heavy. She said she was going to take him to the nursery to clear his nasal passages and she would be right back. Little did I know this was the beginning of our worst nightmare.

Aaron arrived and we packed all of our belongings thinking that we would just leave the minute Faith brought back Vince. The few minutes turned into an hour and finally Aaron went out to see what the hold up was. The nurses just told him to go back to the room and they would send information when they got it. Finally after quite a while a doctor came into the room, but he didn't have Vince with him, nor did he have many answers for us. All he could tell us was that Vince was in the NICU very acidotic, but what the heck did that mean? We went to the NICU praying that this was all just a big mistake. As we arrived, we saw our baby boy struggling to breathe, it was then that I realized how serious this really was. The Metabolic team from Children's Hospital had already arrived suspecting that it was a metabolic disorder and the doctor tried to answer any questions for us. You'll have to excuse my memory on this, much of it is blank and I don't recall much detail. I do remember that the doctor told us that it could be a metabolic disorder or it could just be dehydration. We prayed for it to be dehydration. Unfortunately it was not. At this time they stopped feeding Vince formula altogether and had him hooked up to only an IV. They did continuous tests on him. The next morning we went back to the NICU and had Vince baptized in fear of losing him, everyone thought this was a good idea, I don't think many people thought he was going to pull through.

The Metabolic doctor called the next day and asked his nurse if he was in a coma yet, the nurse responded "absolutely not! This kid is hungry, we need to feed him!". The doctors were amazed; they decided that it was then time to feed him. That day we met our new lifelong friends, Nutritionist Laurie Bernstein and her asst. Richard Sheif, and Pediatrician Mark DeMarie. They taught us how to mix the Propimex/Similac formula and we all held our breath as we watched Vince drink his "special drink" for the first time, and he loved it. At this time we were still not positive on a diagnosis. The elevated acid in his blood was rapidly decreasing. It was a miracle. Vince started getting better day by day. He was taking about 2-3 ounces every three hours and was receiving B-12 injections. They were constantly poking him for various tests and performed a skin biopsy. Two weeks later the results from the urine came back positive for MMA. We were devastated but never gave up hope for misdiagnosis. The good news was that Vince was progressing nicely and after three weeks we were finally able to take our baby home.

At home a nurse was coming to give him B-12 injections that didn't seem to help. We saw our Pediatrician once a week and the Metabolic team once a week also. Finally we got the results from the skin biopsy. Vince was B-12 non-responsive, mut-0, the most severe type of MMA. Again we were devastated. We went into a state of depression and denial. Every time I took Vince to the doctor I remember thinking this was all just a big mistake and I hated everyone for doing this to us. It took me about eight months before things finally set in, when Vince got sick from a cold and had to spend four nights in the hospital. The doctors had suggested that we put a gastrostomy tube in Vince and we (still in denial) rejected it for a year. Thank God we didn't put it off any longer. The G-tube is heaven sent, since we got it we have not spent any more nights in the hospital.

Vince is now 19 months old. He is about 25 pounds. He recently hit a growth spurt and went from the 5th to the 15th percentile for height! He started crawling at eight months and walking at 16 months. There is no known neurological damage at this time. He says about 20 words and salutes every time the Denver Bronco's score a touchdown. We have just started a new therapy of antibiotics. He is receiving 12 cc's of Neomycin 3x a day. We are praying that this will lower his methylmalonic acid levels which are currently at 55,000. He also receives carnitine and an iron supplement daily. His formula consists of Propimex-2, Similac, and Pro-Free for extra calories. He also receives 80 mgs of isoleucine from food, which mainly consists of low protein pasta with cream of mushroom soup, fruits and vegetables. He also enjoys candy, candy corn is his favorite.

My mom and I have also been experimenting with the Low Protein Cookbook, this has been a very fun and challenging task. Vince is seen every 3 months by his Pediatrician and about every other week for a blood draw at the Metabolic Clinic at Children's Hospital. We are still trying to regulate his MMA levels through diet which fluctuate between 24,000-74,000. So far we haven't had any luck with this.

On August 8th 1998 we were blessed with another baby boy, Evan Joseph. He is thankfully very healthy. We had an amniocentesis performed at 3 months to test him for MMA, the results were negative. We weren't expecting this pregnancy but we look at it as a true blessing. Vince was not planned either, it goes to show that sometimes the best things in life are unplanned. Vince loves Evan and is quickly fitting into the big brother role, pulling his ears and biting his hands when we turn our backs. We were very nervous when we left the hospital with Evan, the nurses laughed when I asked what to feed him, how much and how often. They said just feed him when he's hungry. WOW! That's a new concept for us.

We are very fortunate to have the love and support from my mom, dad, brother and soon to be sister-in-law. They have been so good to us and they are always wanting to learn more about this disease. We are so lucky to have them. We also have many other family members and friends who are always there when we need them. We are also very fortunate to be seen at the Metabolic Team at Children's Hospital in Denver Colorado . We are very confident in our medical staff, Dr. Carol Green, Dr. Janet Thomas and Dr. Dave Koehler.

Vince has changed our lives so much. He has touched the hearts of many. We have learned never to take things for granted and each milestone is greeted with sheer excitement. We've also learned that life is a day by day experience for everyone not just us, we are just fortunate enough to face it. God has blessed us with special children, I think that goes to show what he must think of us. Makes me happy to think that he chose me out of the millions he could have chosen. Our road may be a little bumpier than expected, but I have to believe that the gates to eternity will be wide open for us. We pray for you and your children. We'd love to hear from you!

Aaron, Lori, Vince and Evan Sanchez
9376 W. Wagontrail Cir.
Littleton, CO 80123
303-933-3335
AS1VS2LS@aol.com