We began our journey into a world we knew nothing about when we were pregnant for our third child. It began with three threatened miscarrages (the last of which put me in the hospital) and long term bedrest. The doctor told us to go home and wait for the baby to die and that we could try again later for another one. We were devastated at the thought of losing him and went home to pray for the baby to live. Anytime I would try to do anything at all (even wash a dish or go to the bathroom) I would start bleeding and would have to go back to being strict about bedrest.
For anyone who has been on long term bedrest, you can attest to the fact that it is depressing. For me it was hard not only to be still for such a long time, but to not be able to be a part of things going on around me and not being there for my other children the way that we were all accustomed to, was really hard. We did have many people from our church that stepped in to help with meals, cleaning, caring for the children, and even homeschooling, but still it was not mom. We still see the affects of it to this day…19 years later.
Some of the complications that came up throughout the pregnancy were: too little amniotic fluid (less than half), IUGR (intrauterine growth restriction), the placement of the umbilical cord was a centimeter from the margin…what that means is that it was near the top of the uterus which restricted both the bloodflow and nutrition he was able to get while he was developing, he had a SUA (single umbilical artery)…there are supposed to be 2 arteries and 1 vein in the umbilical cord, when there is only one artery and one vein the baby doesn’t get the proper blood flow and the risk of fetal morbidity is high…during the non-stress tests they found that his heart stopped and they had to “buzz” him to get it started again which then caused such a high heart rate that they thought they would have to deliver, his development stopped at 32 weeks and his chances of survival continued to go down daily until they had to deliver him emergently at 37 weeks. He was transverse breech which required an emergency c-section.
While 37 weeks is not typically considered “preemie”, because of his development stopping at 32 weeks he had the same issues that one would have at 32 weeks. Once he was born, he was not able to breathe on his own and required PPV (positive pressure ventilation), CPAP (continuous positive airway pressure), blow by O2, and then he was able to switch to room air. His APGAR scores were 2, 5, and 9. His blood sugar dropped to 20, he was gray and dusky, his “suck, swallow, breathe” was not coordinated, he was floppy (low muscle tone). But he was ours, and was worth fighting for.
He stayed in the watchful care of the NICU for 5 days and then was released to go home. We were told to enjoy him and to treat him like a normal baby. Were we in for the surprise of our lives! He would spontaneously stop breathing when in the car or randomly throughout the day (apnea)…he was unable to sleep anywhere but on my chest for the first 6 months of his life because he would stop breathing so frequently, he could not regulate his body temperature and would go between 92-95 degrees for his “normal” temperature…if it got above 95, he was terribly ill and had to go to the hospital, he had severe reflux (171 times in 16 hours), he got aspiration pneumonia, kept losing weight daily, had seizure “like” activity, had a prolonged startle reflex (until around 6 months), had severe sensory issues, his brain was unable to understand sleep and could only sleep for about 20 minutes requiring medication to just be able to sleep…the list goes on.
During the first 11 months of his life, we were at the doctors daily because of his various medical issues. His reflux was so severe, he was unable to get what he needed nutritionally even with the medication that was supposed to help him. He was falling far behind developmentally…he did not roll over from his belly to his back until he was 9 months old, just as one example. We had to weigh him daily on a meat scale donated by Metler-Toledo and alert the doctor when his weight changed even the slightest bit. Finally at 11 months old, we went in and he was limp and lifeless…and the doctor said that he was a direct admit to the hospital. During the drive there, my mom sat in the back with him trying to keep him awake because we were afraid that if he fell asleep we would lose him. It was that bad. I don’t remember now how long they kept him, but once they discharged him we went to his doctor who immediately suggested a feeding tube. It was such a hard decision to have to make, but we knew that we didn’t really have a choice. Once he started receiving tube feeds, we saw a rapid change in his strength and development. He was still having the same frequency of reflux episodes, but he was able to get enough out of his feeds in the time that they were in him that it made a difference.
We went through years of OT, PT, and speech therapy to help with everything from Sensory Integration Dysfunction, to developmental milestones. I will write a separate page about this particular section.
We did not know anyone else that had a feeding tube, or any of the other issues that “E” had until we got a card from the Nationwide Children’s Hospital suggesting a group for us to attend with other medical kiddos. It was called Mighty Medical Miracles (M3) and it was the “light at the end of the tunnel” that we had been looking for. We attended our first get together when “E” was 3 years old and his new baby sister “J” was 6 wks old. For the first time in our life we had other people that understood all of the medical jargon that we had been speaking for the past three years. We also felt normal for the first time since “E’s” birth because everyone else had similar issues and feeding tubes of one sort or another. It was at this meeting we first heard about Mitochondrial Disease.
Before then all of the doctors referred to “E” as “the puzzle”. We got so sick of hearing that and just wanted someone that could solve the puzzle. The other parents at M3 listened to all of his different issues and came to the conclusion that we should look into Mitochondrial Disease. At first when we asked the doctors about it, all that came from them was negative. Mitochondrial Disease was considered a very rare disease and not one that they knew much about. There was no treatment at the time when he was first diagnosed. They didn’t feel that he presented like a kiddo with mito. Then one of his doctors even said, “Well, it doesn’t matter anyway.” When I asked what he meant by that, he responded, “Even if he does have it, there’s nothing that we can do about it and he’ll just die. Why put him through such a painful surgery for nothing?” I was flabbergasted that the medical profession was so willing to throw their hands in the air and give up on him. I felt that if we at least knew what “demon” we were fighting, we could treat the symptoms and hopefully, help the time that he did have, to be better. I turned to one of his nurses that cared deeply for him and didn’t agree with what the doctors were saying, pulled strings, talked to various people to push things through and we finally got the testing done. The surgery to get the deep muscle biopsy was a very difficult surgery…very painful, but the results came back saying that it was indeed Mitochondrial Disease Complex I, respiratory chain (having to do with cellular respiration). We also found out that they didn’t expect him to make it past 10 years old because of how progressive the disease was.
I will post again with a deeper explanation about Mito and then another one about some of the other issues and how we dealt with them.