This is a personal story shared by a family whose child was diagnosed through newborn screening (NBS) with Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD).

My story...by Linda Clark (Grandma to Mary Eva)

On March 12^th, 2004 my daughter-in-law Cheryl called to ask if I was ready to be "Grandma". I was so excited and went directly to the hospital. That evening a baby girl joined our family and they told me her name was Mary Eva (named after the kid's grandmas). She was this beautiful healthy olive skinned baby weighing 9 lbs. 11 oz. The joy we felt was indescribable and I was beside myself with joy having this beautiful little granddaughter.

The next day I was able to hold Mary and feed her. She didn't seem to want to eat, but I guessed that would be quite normal and besides she was such a big baby, Not wanting to be the in your face mother-in-law, I wasn't sure how I would be able to spend lots of time with my new granddaughter, so I stayed away for a couple of days knowing that Cheryl and Mary were home and they were settling into their little family.

I will never forget the feeling I had when my son called me at work and his words were "I don't want you to get upset...." As soon as those words were said I knew something was wrong. He didn't know very much other than a call had come from Mary's doctor advising Cheryl to call Children's Hospital in Vancouver as they found something with her blood tests and she was to be taken to Children's Hospital in Vancouver right away. They told Cheryl about what they expected and the symptoms; baby would not want to eat and would become lethargic.

Cheryl had to feed Mary before we left and she did not want to eat and I remember it taking about 20 minutes to wake her. We washed her face, tickled her, undressed her, but she wasn't waking. That alone put my fear level go way up and not saying anything, I just wanted to take her directly to our hospital in Kelowna. We finally got her to feed and we headed out. I was frantic to get to Children's Hospital and knew if we had to get her there something was seriously wrong. The trip seamed to take an eternity, we had to stop every few hours to feed Mary.

We finally arrived at Children's about 11:30 p.m. and their team was ready for Mary. The kids and Mary were taken to an examining room and they examined, re-tested and did whatever needed to be done to confirm what they suspected. I waited in the waiting room with my sister and her husband who met us at the hospital. I could hear Mary crying and not knowing what exactly what was wrong I felt desperately sick, but still felt very confident that everything would be ok and we would do whatever was necessary to take care of our baby.

Their initial diagnose was correct. Mary was born with a genetic metabolic disease called MCAD. We had no idea what that meant, but for now Mary was hooked to an IV and taken to the Pediatrics ward. Even the nurses on duty had no idea what MCAD was, but they were wonderful and went to the Internet and printed information for us to read. Everyone who came into Mary's room fell in love with her and all said what a beautiful baby she was. We definitely agreed.

Over the next days, we shared tears and laughter as the three of us shared Mary's room and took turns holding Mary and taking care of her. Cheryl with a cot, Richard finally with a cot after a night on the floor and grandma on a wooden rocking chair beside Mary's crib. I sat by Mary's crib and watched the clock for feeding times. I watched her every move. Cheryl would feed Mary and then I would take her and settle her in order to let Cheryl rest.

As the days went on, we learned more about what MCAD meant and what we would have to do. We would have to feed Mary every four hours - 24/7. She would be on a low fat diet and would need to take a medication (Carnitine) every six hours, would require monthly blood and urine samples and would require trips to Children's Hospital. We were told when she gets sick, we would need to take her to the hospital and an IV would need to be hooked up even before the required blood work. Everything said she could live a normal life.

This all seemed overwhelming, but knowing what to expect, helped us immensely. We are grateful every day for that testing, as without that testing we probably would not have Mary with us today.

We brought Mary home from Children's and friends helped with food and cleaning, as we were overwhelmed and very tired. Somehow, we managed to get through the tough times and our little family has bonded and we know we are always there for each other. As I live only 5 minutes from the kids, I am always there to help and Mary and I are totally bonded and love each other so much.

Mary will be 18 months old soon and is a lively energetic little girl so full of life. She is talking very clearly and has been walking since she was 10 months old. She laughs all the time and has a spirit that is very infectious. Mary has spent a few nights in hospital due to the flu, but other than that, she is a very healthy beautiful little girl. Everyone comments what an outgoing full of life little girl Mary is and brings a smile to everyone who meets her.

How lucky I am to be Mary's grandma............. And I thank God every night that I can share my love with her and that someone took the initiative to bring testing to all babies in B.C. My hope is that testing will become mandatory in every province and state.

Kelowna, British Columbia