September 2002, Jack was born at 12.52am – 8 weeks premature on the 10th of September 2002. He weighed 1880 grams and was 49 cm long. I had been admitted into hospital 2 weeks earlier due to Polyhydramnios (excess fluid) as my pediatrician could not feel Jack’s head or limbs in my belly.
The night Jack was to be born he was having bouts of fetal bradycardia and they could not get good traces of his heart beat as he was moving so (I could feel him at all). The doctors decided to move me to the high risk area and I just got settled in to go to sleep in between being hooked up to the ECG machine and my waters broke. All of a sudden there was panic as Jack’s heart rate plummeted to 60 bpm within minutes. I was rushed into theatre within minutes for an emergency c-section.
When I awoke I was told Jack was fine and he had to be ventilated at birth and he was in the NICU. They wheeled my bed in there so I could see him. He was beautiful and he was doing fine as far as I was told. I was wheeled back to my room and I rang my partner to tell him that Jack was born a few hours ago, as he was at home with my daughter Jasmine 240 kms away as he had to work. In the morning, Mark had traveled down to the hospital and we went and saw Jack together …
We looked up MTM on the internet and found two websites … this site and the Myotubular Myopathy Resource groups site. We cried when we found out that there was boy’s alive with this. We printed out all the information we could to take to the doctors … He was beautiful … he had a head of hair and was so perfect.
The doctors had a discussion with us and told us that something was wrong with Jack, as he was a very floppy baby and when he was born he only had a heart beat and was not breathing or moving. That’s why they had ventilated him straight away. They also said Jack had Dysmorphic features which meant he most probably had a condition or syndrome and that things did not look so good for him … I was in shock and I wanted to know what was wrong with him. So virtually 10 hours after he was born Jack was seen by the Geneticists, Neurologists just to name a few … We were asked a million questions about family history and so forth.
For the next 9 days tests were done, all these neurological conditions were mentioned …and they finally decided to have a muscle biopsy done. Within 24 hours they had a preliminary diagnosis. We were told that Jack had X-Linked Myotubular Myopathy and that would not improve. We were told that the chance of Jack coming off the ventilator were slim and over the next few weeks we had to make a decision whether to continue Jacks support if he failed off the ventilator when he was at term – this was 7 weeks away. We also were given an article from a pediatric database dated in the 1970’s. It said that 95% die in the few weeks of life. Our hearts broke. We were told to let all the thoughts swirl through our minds over the weekend and next week they would get all the teams together, to find out more information on this condition.
My mother took Jasmine for the week so we could spend time with Jack and speak to the doctors. Within the next few weeks Jack begun to improve with strength, this was happening daily and was surprising all of us. I knew he had it in him, he is a fighter! When he was 2 weeks away from being trialed off the ventilator, they had to change his ET tube and they told us they would just trial him off onto the CPAP for as long as he could handle it, they assured us it was an informal trial and not to worry if he didn’t cope.
End of October 2002: That was the end of that! Jack has been on CPAP since the end of October. We trialed him off CPAP for an hour and a half twice a day back in November but he failed to gain weight so he was put back on CPAP continuously.
May 2003: Jack has never come home from hospital as the doctors had thought that if we wait until he is strong enough to come off the CPAP during the day, he will be able to use a mask for CPAP of a night and sleep times until recently – Jack was trialed off the CPAP and he faired very well the first time, he went 9 hours off the CPAP. Other efforts were not so good, as he cannot swallow he can’t sustain his breathing whilst off because the copious amount of secretions. So we have decided to give Jack a tracheostomy.
It has been a hard decision to trach him, a decision we know will give him a chance to be able to breathe on his own and he will also be free him from having the tube up his nose since birth. He will be able to have his face free to explore his world.It has been a long hard road we have journeyed down, it is well worth it! He just is a normal happy baby trapped in a weak body. We are so happy and proud of him honestly.
June 2003: Jack had his Tracheostomy placed. Within weeks of being trached, Jack was able to come off support during the day (previously failed attempts) we could see our son’s face for the first time! We spent months training in Jacks cares, in preparation to coming home …
Jack finally came home – the day before Christmas we were given the best gift of all, to wake up Christmas morning to find our boy asleep in his own bed, at home!
I think there are views towards us having our son at home – a disabled child who requires support from mechanical ventilation is hard work, non rewarding, a burden even. This is not the case, we have a son who has a disability, who will develop like any other child, it will be hard at times, we had so much time to think this all through, and we were just as determined to have him home as we were at the very beginning. We also know Jack has a bright future ahead of him, and watching him get stronger – we have a lot to look forward too.
We have come such a long way the past 15 months, an unknown road we took, along the way we made friendships that will last a lifetime, we found strength and new found confidences that has helped us along the way.
Jack has changed our lives in so many ways, and we are very much in love with this beautiful, cheeky boy. He is truly a blessing! We love you Jack.