1994 - 1995

The first few weeks were a time of getting to know Alex and trying to feed him. In the hospital he was fed via a naso-gastric tube but at home I wasn't offered this option and persevered with a bottle and eye dropper. I was determined to breast feed and settled into a routine of expressing and feeding. His suck was very poor and he took an hour to drink 25 mls. How I wish in hindsight that we had been offered the option of bringing him home with the feeding tube. It would have been so much easier on all of us, but particularly Alex. It was so much work for him to feed that he was exhausted and had such little time to develop because he slept so long.

But he was such a good baby. He rarely cried and slept most of the time. When he did it was such a dainty cry, more like a mew. He was so tiny we were afraid to let him cry for long for fear that it would exhaust him. Besides it felt so good to sit with him cradled in my arms, smelling his sweet baby smell.

I was very lucky to be staying with my mum and sister, so there were plenty of helping hands. There was no way that I would have managed otherwise as I was literally exhausted all the time.

Our first real problems arose at 3 weeks of age when I went into his room one night to find him not breathing. I immediately picked him up and he started choking and trying to breathe. While I tried to get Alex breathing my sister called an ambulance. It was a very frightening time. Because of my background I had previous training in resuscitation for which I was extremely grateful!! However strict "by the book" techniques were not working. The more I tried to clear his airway the more saliva that I seemed to pull out. Eventually I held him upside down by his ankles and that helped a LOT.

By the time the ambulance arrived Alex was still struggling to breathe and was given oxygen. We stayed at the local hospital for a week as they tried desperately to ascertain what was wrong. He was given a barrage of tests and the doctors rang the lab for the results of his chromosomes. We were told that they were normal. The only problems that could be found were a soft heart murmur and inguinal hernias and hydroceles. So we went home to cope as best we could. The hernias appeared for the first time after trying to resuscitate him, and probably "popped" because of all the effort and exertion. I was very distressed to realise that Alex actually came home from the hospital at birth with the hydroceles and no body told me that they were even there! Although Alex was my third child he was my first boy so I had no idea what was "normal" and everyone assured me that little boys were often swollen there.

At 4 weeks of age he was admitted to Sydney Children's Hospital (then Prince of Wales Children's Hospital) to have the hernias repaired. This went without incident though he was monitored carefully. His heart murmur was investigated and found to be a small PFO (Patent Foramen Ovale) which did not require repair. After 24 hours we came home. Alex was his typical brave self during all this he never complained, never needed painkillers. It was as if nothing had happened (except to one very anxious mum!)

Over the next few months we continued to have lots of problems with apneas. But sadly no-one ever offered us or even told us that they could be treated. We coped by taking it in turns to sleep with Alex or using a baby intercom. You see my little man snored so loudly you could hear when he stopped breathing!! Although his snoring saved him a number of times I now know that babies should not snore! And that if they do it can be quite dangerous as it is often an indicator of obstructive apneas. We soon learnt, by trial and error that if we roused him most of the time he would start breathing again. We had a number of "bad" apneas where he would go blue, and despite taking him to the hospital a number of times we were unable to find a cause. Seizures were suspected and ruled out. It became a constant nightmare for us, but one which we were lucky enough to survive.

It certainly upsets and scares me even now to think that he could easily have died during that first 12 months, and we would never have known the true reason. After cardiac problems, apneas are the second leading cause of death in Trisomy 18. It would probably be have been put down to SIDS (Sudden Infant Death Syndrome) but I know that I would have blamed myself.

At 2 months Alex had a reaction to his DTP vaccination. He developed a very high temperature (40oC or 104oF) and lost his voice for almost a month. He was not even able to manage his tiny mew to cry. His doctors recommended that all future vaccinations would be without the pertussis (whooping cough). He has since received his pertussis vaccination, but not until he was 4 years old, and then with the new acellular pertussis vaccination.

1994 had been a very hard year, not just with Alex's birth but also the problems with his dad. It all finally culminated just after Christmas when Amanda, Alex and I left my mum's home and went to live in a women's refuge. My mum only had a 3 bedroom home and with 3 adults, 3 teenagers and a sick newborn it was very crowded and stressful. Moving into the refuge was hard but overall it was a good move.

At 4 months I started to realise that all was not right with Alex he was still very "floppy" and spent a large amount of time sleeping which was quite a worry given the apneas when he slept. Up until that time, although I knew deep down that all was not right, I convinced myself that the doctors were right and that he was just tiny and premature and that with love and feeding he would "catch up". Although he finally started breast feeding at 4 months no-one knew quite what was going on. I had been working on his suck and swallow since birth it wasn't until he was 6 months old that we started on an early intervention program. Initially this was primarily physiotherapy because of his poor gross motor development and speech therapy for his feeding. But soon we added an osteopath for his torticollis and other therapies. Although I am an occupational therapist I was never Alex's therapist. I am his mum first and foremost.

His development was quite slow. He was still quite low toned and didn't sit until he was 10 months old. Even though he was sitting he had poor control, he still could not roll over on his own and he did not respond to loud noises. Because of this obvious delay he was receiving fortnightly physio, occupational and speech therapies. Most of these therapies centred around Sensory Integration, PNF and NDT and he responded well to this intensive input, though gains were slow.

I really enjoyed Alex's therapy because it gave me a great excuse to play with him! He did however start to have lots and lots of medical appointments. Eventually we got to the stage where we said........"no more". I eventually coped by telling all his doctors and therapists that they could "have him" 3 weeks of the month. The other week was ours..... no doctors, no therapy. For one week of the month we would pretend that everything was perfect. All three of us needed that sanity time. Another great part of Alex's therapy was swimming. We joined a group especially for disabled children and every Saturday we would go swimming at our local heated pool. It was great for Alex and good for mum to socialise also.

At 9 months he had a sleep study to try and sort out his breathing problems and at this time the results were essentially normal, but a few weeks later he deteriorated rapidly and a second study showed marked sleep apnea. He was placed on C-PAP therapy immediately. This was followed by surgery to remove his uvula, tonsils and adenoids. He came through the surgery well (though gave everyone a bit of a scare).

Unfortunately despite the best intentions and skill of the surgeon the surgery had an adverse effect on his swallow and at 14 months after much deliberation and soul searching we decided with his pediatrician to have a gastrostomy tube inserted. During the investigations prior to the surgery the doctors discovered that Alex had a partial malrotation of the bowel and reflux. So the gastrostomy surgery also included a Nissen fundoplication and bowel repair. This surgery was perhaps the single best thing that I ever did for Alex.

Straight away we saw the benefits in his growth and development. It was as if we had taken the pressure of him to survive and he could use that energy to develop.

At this time we also met a particularly lovely geneticist who offered me some hope by giving Alex the tentative diagnosis of CHARGE Association even though he didn't quite fit the CHARGE picture. This diagnosis helped tremendously in giving us hope and direction.