On April 25, 1997, our son Collin (pictured @ 18 mo.) was born, in Kenosha, WI at 7:23 p.m., 6 lbs.8 oz and 20 ½ inches long. He is my second child and during my pregnancy everything seemed perfectly normal. However, when he was born, I knew as a mother that something was wrong because he had such a soft weak cry. The doctor said he was fine, until Mike, Collins dad, sat down to feed Collin his first bottle. Collin turned blue from aspirating the formula. The nurses grabbed Collin and ran out of the room with him, and I did not see him again until a neonatologist from the next city brought him in for me to say goodbye to him. I could not even touch him because he was in an oxygen chamber. I could not understand what was going on because everything seemed ok at first. We have no history of this in either of our families. I saw him again when I was allowed to leave the hospital two days later. He had a NG tube and was on oxygen. The doctors had no clue what was wrong with him, finally about three days later the NICU head doctor asked to talk to Mike and me. He thought Collin had a myopathy and that he would not survive, the doctor cried as he was telling us this. We did not know any better then to believe him. Finally we asked for Collin to be transferred to Children's Hospital of Wisconsin (CHOW) in Milwaukee. The day before he was to go, we decided to have him baptized. Our entire family came to watch as we baptized our baby.

The day we got up to CHOW all of the doctors that seen Collin disagreed with the diagnosis we were given. So they ran some tests and came back with Velo-Cardio-Facial Syndrome. Hearing the symptoms of this disease, we felt he either had a very mild case of it or did not have this at all. So his geneticist agreed to do more checking. They asked to do a muscle biopsy but we refused still not fully understanding why they had to cut muscle out of my child's thigh. After 11 days total in the NICU we could take our baby home with us where he belonged. We brought him home with a NG tube, and suction machine. Six weeks later we were back in the hospital. Collin had pyloric stenosis. After a seven-day stay we went home again. Collin had his G-tube placed in July of 1997. Then we started with the nebulizer treatments six times a day. From July 1997 to June 1998 Collin was hospitalized more than 12 times for at least a week each visit, with many pneumonias, LLL atalectasis, respiratory distress, and other things. He was vomiting all the time was not growing or gaining weight. Finally in May we decided to allow the doctors to do a muscle biopsy on him. Within two weeks we had the results, myotubular myopathy. We were shocked. So we decided to take Collin up to the Mayo Clinic and get a second opinion, they agreed with the diagnosis.

On June 26, 1998, Collin was rushed by ambulance to CHOW in respiratory distress. Three days later he was in the ICU on CPAP, he was not getting any better and he was not tolerating it at all, he just cried. After five days on CPAP we decided to have him intubated and placed on a ventilator. It took all the strength we had to do this because we knew this could possibly be how Collin lived the rest of his life. We did not want that quality of life for our son. However, we loved him so much and were not ready to give up yet. On July 7, 1998, Collin had a trach placed, nissen fundoplication done, and ear tubes places for his frequent ear infections. At first he was on the vent all the time so we started pushing them to let him start "trach trials" just on oxygen. He started out slow with just two hours a day then gradually adding more time we had some set backs that were very distressing to us but he came out of it. After being in the ICU for a month and a half he was moved to a regular floor. But there we sat for an additional three and a half weeks because they were having difficulty finding nursing for us (there is a shortage of pediatric nurses in our area). So sense we were just sitting there we decided to have Collins undescended testes fixed, so we would not have to put him in the hospital again any time soon. We never had nursing before and were very hesitant to even take any but the hospital insisted that we take it. Finally on September 1, 1998, we brought Collin home.

It was very difficult; we put a baby in the hospital and came home with a little boy. It took a couple of months to find my place in Collins life again and finally getting the chance to be his mom instead of his nurse.

Collin is doing great. He is off the vent while awake and just on oxygen. As far as his therapies he is making great strides. His physical therapist is very enthusiastic that Collin has the strength to walk. He has very strong legs, it is from the shoulders to the waist that is the weakest, but he is getting stronger. He knows about 12 signs and he learns more every day it seems. We just have to show him a few times and he has it. He is very intelligent, has a great sense of humor, and is just full of life. I just cannot think of what life would be like without him. He is so important in our lives.

He has been home now for four months (longest time ever) and is growing very fast, at 20 months old he is 27lbs and 36 inches long. Collin is getting the RSV shot to keep him healthy throughout the RSV season. He loves to watch Teletubbies, Barney, play on the computer, and ride his bike (backward of course). He enjoys being roughhoused, playing with his sister and giving loving. He is very cuddly.

In July we sent Collin and my blood sample to Dr. Herman at Ohio State. She recently e-mailed us to let us know that Collin does have the new mutation of the X-linked version of MTM. I knew in my heart that it was X-linked but I really did not want to believe it because I wanted more children and for my daughter and sister. My sister has a two-year-old healthy son and is now five months pregnant with another boy. I guess all we can do is pray and deal with what God hands us.

We would like to thank all of the doctors that took care of Collin at Children's Hospital of Wisconsin, our family for taking care of Ariel when we needed to be with Collin. Mike’s work Six Flags Great America. Our nurses and therapists whom Collin has grown very close too. All the parents of children with XMTM for sharing your stories and letting us know that we are not alone. Ariel for being a great daughter/sister. Pastor Steve for support. To Collin for being a wonderful, strong child through all your suffering you are still always smiling. And most of all God for seeing us through our tough times though it seems it will some days never end.