We knew something was wrong during our first trimester they suspected either dwarfism or Down syndrome. We had the amniocentesis done and everything came back normal so the figured some kind of dwarfism. They told us in so many words without actually saying it (abortion) that there was other options and that was a definite no for us.
Then I was carrying to much amniotic fluid so we had to go to the hospital so they could do a reduction of amniotic fluid. That day I was having contractions and didn’t even know it and I was only around 26 weeks. About a week and ½ later my amniotic fluid started to slowly leak so they flew me about 100 miles to Sioux Falls. They gave me medicine to stop the contractions again and I was on bed rest for the next 17 days.
Cooper was born at 32 weeks and he was 5lb. 4 oz and was 17in. long. They rushed him off and after about 4 hours we got to see him. He was on the ventilator and IV’s. They said he probably has some kind of syndrome and that his liver and spleen were enlarged. The geneticist sent off all kinds of testing for the next several months including Noonan’s, storage disease, etc… and of course all came back within normal limits.
He was on and off the ventilator and oxygen during the next six months but never lasted very long without oxygen because of his under developed lungs. They found that he had a grade II brain hemorrhage at 8 days old. They said they were not sure how or why it developed. They also found he had hypertrophy cardiomyopathy at 11 days old. His hypertrophy was causing obstruction and kept getting worse. His gradient went form 14 to 96 in the next 5 months. They basically said there was nothing they could do. Heart transplant was not an option because they didn’t know what disease or syndrome he had. He also had significant problems with arrhythmia starting when he was around 2 months old. They told us that the risk of our son developing a lethal arrhythmia was very high. At 2 ½ months they placed the feeding tube. Every time they tried to bolus feed him he went flying backwards and it seemed we had to start over with everything.
When he was about 3 months old they thought he was having some seizure activity. He got really sick and they put him on medicine even though EEG looked pretty normal. He’s been on seizure medicine 2 or 3 times and each time he’s been really sick from other things. I personally feel that he has never had a seizure (long story) but I’m not a nurse or doc. He had the THAL procedure done at 4 months old because of reflux. After they pretty much told us it was unknown how much longer he could go with his heart condition we told them he was not going to die in the hospital. His big sister (age 2 at the time) and never even got to touch him or see him except through a window. We told them we didn’t are how long it took him to eat or how much equipment we just wanted him home. So we went home with feeding and oxygen 24 hours a day and tons of meds. He was home for 10 days when we took him to the ER and his O2 was only 60%.
We almost lost him AGAIN that night. We pretty much had to agree not to resuscitate if it was his heart failed. It was the hardest thing we’d ever had to do! They decided if and when he got better they would do a tracheotomy . He was 6 months old then. We took him back home and he did pretty well. I asked our cardiologist if she knew any doctors that specialized in cardiomyopathy and she told me Jeff Tobin ( Texas) but didn’t give me much hope of being able to contact him and him to get back to me. I searched on the internet every spare second I had and found his email address and emailed him daily until he got back to me and said to send out information on our son. He suggested surgery by Dr. Edward Bove in Michigan. So I dug some more and found his email address and he got back to me the next day (AMAZING DOCTOR) and he said send out the info. We set up a myomectomy surgery but he was unsure how long it would help our son because it is so rarely done on infants. So he had his heart surgery when he was 11 months and his gradients were at 123-130. We are not sure he could have waited another week because you could just tell something was really bothering our son. His first night after surgery was really rough and of course every time he has to scare us really bad and then comes out of it somehow. His blood pressure got so low that part of his bowel died so 16 days later it was back to surgery for a hemicolectomy. We tried to tell them to go slow on feedings but they wouldn’t listen until they had to totally stop and start over and then they figured we knew what we were talking about. We were in Michigan for a little over a month. Thank God for Ronald McDonald houses!!!
We finally got back to South Dakota and bad news to come was that the pressures were already back up. The gradient was 80. Anyway he stayed home most of the time a few short hospital stays with ammonia and tons of trouble with bowel moments and gas (didn’t cause hospital stays). We took him in to ER one time and his heart was getting pretty bad again at that time his gradients were over 100 again.
They sent an echo off to Dr. Bove again and he suggested another heart surgery. We debated if we wanted to do it and how much we should put him through. He was now a year and 8 months. Well we scheduled the eptoplasty a week before the Costello conference. When I came to the conference and seen all the kids it gave me more hope then I had in a long time. I showed the video and pictures to my husband and he felt better too. So on July 1st he had the septoplasty and on July 6 they had to put in the pacemaker. Then of course they fed him to fast and wouldn’t listen to us they thought he perforated his bowel and on July 8 they went in his stomach to explore and found nothing. They only found out that they should have listen to us in the first place. The stomach surgery didn’t heal properly so they had to go back into surgery on July 16 to fix there mistake. I do love Michigan but they should have listen to us in the first place. That will never happen again, I know how strong we have to be to get them to listen after that experience. Well he has been doing pretty good since that heart surgery but he does have a moderate leak in the mitral valve but so far his heart seems to be handling it well.
He is now 2 ½ years old. He has a very hard time passing gas and bowel movements. He is on oxygen 24 hours a day and is fed via g-tube 22 hours a day with Elecare 24 Calorie formula and 2 oz. of apple juice.
Of course tons of meds still. He has had a low sodium from early on and takes that too. It’s taking forever for teeth to in. He can hold his head up somewhat. He can not stand, sit, or roll over but is starting to grab for things. We have a standing machine that he finally likes being in for about ½ hour a day as long as I have music playing. He’s pretty happy until he gets gas. Despite his brain hemorrhage he is very very smart, we think the brain hemorrhage is causing the most problems with his ability to sit, stand, etc… We have not had the HRAS testing done by I’m going to contact the geneticist to see if she can help us find somewhere to get it done. She hasn’t seen our son since he was 6 months and undiagnosed. His pressures are now around 16. I also have him on liquid CoEnzyme Q 10 for his heart. I’ve had him on it for a year not sure if that is helping or not but it has no side effects.