This was my first pregnancy, I was 3500 miles from home, and had no idea what to expect. I measured large throughout my pregnancy, never felt much movement and went into preterm labor at 5 months along. I was sent to a Maternal/Fetal Specialist and had some higher tech ultrasounds done. The baby seemed to look ok, I had excess amniotic fluid, and Dr. Vern Katz warned me that something could be wrong, not to be surprised, but could not really tell me more than that at the time. I continued to grow, placed on bedrest and taking some medications to stop labor. I developed gestational diabetes and was placed on a strict diet ( I was a chocoholic and this was H*ll!). I continued to grow on the average of 11 lbs a week! I felt like a beached whale but figured this is what pregnancy was about?? I was taken off the meds and bedrest at 35 weeks, and within a few days went into labor- ( the hospital was 1 1/2 hrs away) I was admitted and since I was not dialated and it ws still early they sent me to stay in a hotel, figuring it would be soon.

My mother flew in to be with my husband and I, and could not believe how huge I was( although she did not want to tell me that and hurt my feelings). Labor did not progress so I walked and walked and then finally returned home. I had my weekly appointment 2 days later- I had again grown over 11 lbs. My Dr. was worried at this time so she sent me to the Hospital and Dr. Katz ( my specialist) came and did a reduction amnio , removed 3 liters of amniotic fluid and induced my labor. At about 3 am, my water broke,and oh- boy did it break! When this happened my O2 level dropped, and so did the baby's heartrate. I was placed on O2 and recieved a epidural in case of a c-section. I delivered with many complications vaginally about 10 minutes before they were going to force a c- section. I had about 25 people waiting in the room for this delivery, and only 2 of them I knew! Being my first birth I assumed all these people were neccessary ( my mother knowing something was wrong , never said a word, praying that all was ok, to protect me) .

My son never cried, he was given to me briefly to see and then whisked away to the NICU. My husband went with him, my Dr.'s stayed with me, spoke to me about what a special child he is, but prepared me that something was really wrong. My mother called my father and he caught the next flight out. I did not know what was wrong, but I sensed that soemthing terrible was happening. Finally about 6 hrs later I was able to go see him, He had been placed on a respirator and had a feding tube, and was cathed. I could not hold him, only his tiny hand. He weighed 5lbs 6 oz and was 19 1/2 inches long. He was beautiful. I was released to go home a few day later ( my bp was up so they kept me a while) with out my son, not knowing what was wrong.

Specialist's had been called because the Neonatalogists had no clue what was wrong, I was tested for things and he was tested for everything imaginable. My parents flew home eventually and my husbands family came, still all the while our son was in the Nicu ( 1/1/2 hrs away), we stayed in many a cheap motels and when we had to go back to our home town ( my husband is military and was forced to return to duty) I drove daily. We became very good friends with the Nicu staff and they were very blunt and honest with us, although no one had a clue what was wrong. They never gave us false hopes. We took him off the respirator a few times only for him to be put right back on, Dr.s said he would never be able to go without it. We became comfortable with his machines and held him constantly in the Nicu. Those big brown eyes- that tiny little smirk ( never could completely smile) ,a full head of dark hair, everyone came to see him , he had nurses from other floors who came at lunch and breaks when we were there or not to spend time with him, he kinda drew people to him. Dr.s flew in from all over the United States to look at him, medical journalist came to take pics and slide shows , no one had a clue , we thought we would just have to live forever at the NICU, but we felt safe there.

Then on his 1 month birthday one of the neonatologist came to us with his diagnosis, they had done a muscle biopsy the week before. She could not tell us much, she did not know much about MYOTUBULAR MYOPATHY , she handed us some info sheets from medical books ( way over our head) told us prognosis was death, and gave us a private room to read and process what we read. My husband left, he could not handle this info, I stayed and read about this and then disappeared to "my phonebooth" a place I had hidden many a times when I need to get away from The NICU and reality. I called my parents and told them what I had read and what the Dr. had told us. My world was shattered. They were devastated and wanted us home. We were devastated and wanted to be home.

The next day the whole group of neonatologist and counselors met with us in a conference, we were told by them that his prognosis was death, that only 80 other boys had been diagnosed with this, how rare the disease was,and that it would be in our sons best interest to remove him from the machines,and let him live what life he was going to live . We fought this for a few minutes saying we could take him home on the machines, I was going to quit my job and just take care of him,the Dr.s discouraged this, but said we had to make our decision for ourselves. The pictures they painted were not pretty , and after considering it overnight we decided they may be right. If we were going to do this it would have to be our decision and we would have to be ready.

We wanted to take him "home" 3500 miles away from where we were living to make our decision with our families support. Our famlies did some quick footwork, contacted the Red cross and since my husband is active duty militay, we were given the opportunity to use the MAC system to fly our son home. This was very frustratingto the Dr.s at the hospital cause they had to make arrangements with the military docs,and the next week was very fuzzy. We somehow made it home. He was admitted to the Wright Patterson Air Force Hospital, where we decided to take him off the machines and home. The military hospital tried to convince us to not do this, to let them do research, but my son had been poked, proded, pinched, cut, and never been held and loved like a baby should be.

We had made our decision and were at peace with it, I still am. I have a picture of him the first time I held him with no tubes , up agianst my body chest to chest- he smiled! When I see this picture I know I did what was right for "us". We had been counseled at what to expect,what would happen as he passed, how we may feel, and the counselor from the hospital he was born kept contact everyday. They were really wonderful people( although at times it seemed not) . I believe they were just not informed.No one knew how long he could hang on, they informed us it could be days or years. We were taught to " tube" him if needed before we left the hospital . We had decided to try to bottle feed -did not work,( and had a home care nurse come the 2nd day home and put in a feed tube, I got scared and could not do it myself). We had him on O2 , and had a suction machine to help keep him clear. Now that I think back , how horrible this must have all seemed to the friends and family who witnessed what we had to do , to keep our son comfortable. I know it was heartbreaking.

We spent some wonderful time with him, all of our friends and family came to see him, and had the opportunity of knowing our precious baby boy. We did not get much sleep, took a ton of pitures and I felt really in tune with him, when he was uncomfortable I knew, if I was asleep I would wake up, and he would just be looking at me, it was like I sensed his feelings. Maybe it was all in my imagination, but it kept me going. When we did sleep he was either on one of our chests, or between us. We spent Easter Sunday with him, had a lovely holiday, although it was all focused on him, but we sensed he was growing weaker. Easter will always have a special meaning to our family. I talked to Zachary that night after everyone else was asleep, I told him that it was ok to go, ( I know this sounds strange, but we all talk to our babies). That he did not have to fight anymore , that we would be ok, knowing he was alway to be "our angel". I went to up to bed with him, I woke my husband and we both told him goodbye, and held him and each other until we went to sleep. I knew his time was going to an end. I don't know how I knew but I did. I awoke at 7 a m, knowing he was gone- I felt him and he was still warm, so I though maybe I was just dreaming it, I took out the stethascope and listened for his little heartbeat- there was none,I stared and stared at his chest hoping I might see it move, no movement came.

I knew he had just left us, I held him until I was ready to share the news, I woke my husband, then we called my parents to the room. I don't remember much after that.. The home nurse came and pronounce him, we bathed him and dressed him and they came for him. We went and finalized arrangements, my parents had pretty much taken care of things for us when we were on our Journey home( thank goodness! what a thing for them to have to do, I am so glad they remained so strong for us) .... Some people come into our lives to stay , others just leave foot prints on our hearts...

Zachary Steven was born Feb 29th (Leap day) 1996, we took him home from the hospital April 5th and he left us on April 9th 1996. Our story is not filled with medical details, it has been 5 years now, and most of those I forget, I do remember the emotions. I thank God everyday for giving me my baby boy and I am at peace with our decisions, and know how this changed our lives forever.

We have since had a daughter, she is a delightful 2 year old. I have been told that I am a carrier to X-linked MTM , and testing will be available for my daughter when the time comes that she needs to know if she is a carrier. I am thankful to have her and would love to have another child, but fear keeps us from trying. We just count our Blessings , and go forward every day.

Thank You for sharing your stories and letting me share mine. Telling his story had been a huge part of the healing process for me.