Alex playing at school with a friend

Alex continues to have therapies. He also attends day care two days a week and a playgroup for the deaf one morning. As well he has a teacher of the deaf come to our home for an hour twice a week - life is full.

We have been on outings to the zoo and the beach just like other families. Alex loves the train (toot-toot) and buses. He is obsessed with Bananas in Pyjamas, Thomas the tank engine and Brum. His favourite occupation is making a mess and refusing to help clean it up!! All pretty typical 2 year old things I think.

I try and expose him to as many different experiences as possible. For the language, and also because I do not know how long Alex will be with us. I want to cherish every minute with him.

Medically most of this year has been spent trying to sort out his hearing and speech problems. This has been quite a challenge as his hearing tests vary markedly and no one can really explain why there are such differences. For example VROA testing (behavioural) says that he has only a mild hearing loss. ABR testing says a moderate loss and an electrocochleography said a severe to profound loss. The bottom line for me is that Alex does not appear to hear everything, so I believe that there is some hearing loss, and, he is not talking. I believe that there is a fairly severe degree of oral motor apraxia but getting a diagnosis and access to the right sort of therapies is very hard. The audiologists are blaming speech issues for his not talking and the speech therapists are saying that it is hearing....... I wish I knew who was right.

Finally late in 1996 he was fitted with low powered hearing aids and they have made a tremendous difference, my non-verbal child became a real chatter box. Progress was slow and painful (for mum) but very steady. I have decided though to continue with a total communication approach to communication, including signing. Although he is talking and talking a lot, he is very hard to understand particularly if he speaks out of context. I truly believe that language skills are soooo important, both for Alex's self esteem and for his overall development. I am afraid that Alex won't learn and progress because of a lack of language and will develop behavioural problems as a result of frustration.

At age 2 1/2 Alex had some psychological testing at my request. Testing was hard because of the lack of language and physical problems. Eventually the psychologist decided that the Griffith's Test would be best. Although we couldn't get an accurate raw score (it was about 75) it is felt that there is little if any intellectual delay, something his mum thought but never dared dream. We won't really know how accurate that is until he is older.

The test results are very promising and I think reflect all the hard work done by all of us. Unfortunately it is a two edged sword, the high score will prevent him from accessing many of the therapies that he needs to keep progressing.

Unfortunately we also found out in the middle of the year that Alex had developed an allergy to latex, and is at risk of anaphylaxis at any time. The allergy probably developed because of the multiple medical procedures he has been exposed to and the fact that he was fitted with a latex gastrostomy tube in 1995. This of course has been changed to a silicone one now, but we are still learning to deal with the problems associated with being allergic to rubber. It is a rapidly developing problem because of the adoption of universal precautions, but sadly it is also a problem for which there is no cure and it is very life threatening, our only hope is to decrease his sensitivity by minimising contact. Please all parents be aware of this problem and reduce your child's exposure to latex NOW.

The apneas continue to plague us, but slowly we are learning to cope. Night times are the hardest. During the day it is fairly easy to keep an eye on Alex and see when things are going wrong, but at night there is no warning, except for the apnea alarm. I am afraid that I will wake up one morning to find that I have slept through the alarm and he has just stopped breathing during the night. I spend most of my nights watching Alex and making sure that he keeps his C-PAP mask on. It leaves me very sleep deprived and at times I feel like I am not doing as much as I could or should during the day because I am just so exhausted all the time. I have spent a lot of time fighting to get help at night but without much success. At the moment all I can get is a personal care assistant one night each fortnight (two weeks).

I seem to have spent a lot of this year fighting in some ways. Fighting is the wrong word though - I should say being assertive and an advocate for Alex!! A lot of it has been with regards to the apneas. The respiratory doctor that we had been seeing since he was about 15 months old seemed to keep us on a constant merry go round. For example he would say "when Alex has a bad bout of apneas bring him straight into the hospital so we can do a sleep study" I would do that and then we would sit in the hospital for two weeks, no sleep study and nothing being done....... Of course the apneas would stop in the meantime.

Eventually the respiratory doctor said that Alex really needed Bi-PAP rather than C-PAP. C-PAP apparently is fine for obstructive apneas but will not help central apneas which is what he believes Alex's are. Timed Bi-PAP apparently will operate a little like a ventilator and actually breathe for Alex if he "forgets". Unfortunately he then said that it couldn't be done in Australia because we don't have the specialist technicians available. I asked about it being done overseas and he said that wasn't possible either. My personal opinion was that Alex is unusual and they just didn't know what to do and given his diagnosis it was easiest to do nothing and hope that he would just die.........

However after much research I found that it COULD be done overseas and so, with the pediatricians support I approached Rotary International, through our local Rotary group to help us raise the money to get Alex to John Hopkins University Hospital. The Rotarian president, Trevor, is an amazing man and he DID raise the money, though it was hard convincing all the club members that one little boy was worth all the effort. Without Trevor I would never have had the strength to do anything about it and I thank God every day for sending Trevor and Rotary into our lives......

Finally in July we travelled to the US. I was scared silly as I had never been overseas before in my life and here I was taking a fragile little boy overseas on my own!!!! The trip was very much worth the effort. Dr Carole Marcus from John Hopkins University Hospital was wonderful. She arranged monitoring the whole time we were in the US. The monitoring managed to catch a number of episodes as well - which was very helpful.

We first went to New York to meet with Joanna and her parents, Chris and Boni. Joanna has full T-18 but amazingly is in her 20's!! I had spoken with Chris a number of times on the telephone and we felt a real connection, not just with the T-18 but because we share the same maiden name - Schuler.

From New York we travelled to the CHARGE conference in Boston. Although Alex technically doesn't have CHARGE Association he still shares many similar problems to that of children with CHARGE.

From Boston we travelled to Utah. There for the very first time I met other children with T-18 at the SOFT Conference. What an amazing and humbling experience! There were many doctors at the conference that had experience in dealing with children who have T-18. They also were positive about our kids which was wonderful.

In Utah we met Dr. John Carey who has been researching T-18 for over 20 years. He found Alex an amazing child - but I knew that!! John organised many consults for us while we were in Salt Lake City, and the information that I learned was invaluable.

Alex with Dr. Carey

One thing that John did organise was a skin biopsy. With mosaicism the distribution of trisomic cells can vary markedly from body system to body system. While Alex's blood karyotype showed between 60 and 75% of cells had the additional chromosome we had no idea how his other body systems fared. The skin biopsy results were interesting in that they showed no trisomic cells. That doesn't mean that Alex doesn't have T-18, but it does mean that he has a very unusual distribution and may account for why he is doing so well compared to most children with the disorder.

While we were in Utah we also met with Mike and Nancy for the very first time. When I first heard about SOFT I sent in a story for their newsletter which was published. Mike and Nancy read the story and felt an instant connection with Alex but never actually did anything. A few months later Mike was coming to Australia on business so they called and we arranged to meet. Mike was amazing and he couldn't believe how well Alex was doing. I had told him but he thought I was deluding myself!! It was Mike who suggested that I bring Alex to the US to meet Dr Carey and who also did a lot of the arranging with John Hopkins so we could take Alex there. I found this wonderful as we were virtually strangers and our only real link was T-18. But I have since learned that this is a special trait of T-18 families - they will do almost anything to help others in similar positions.

After Utah we travelled back with Mike and Nancy and then stayed with them while Alex had all his appointments at John Hopkins. They and there families were wonderful hosts and I will forever be indebted to them.

Finally we travelled home again, but only after a short one day trip to Disneyland in Los Angeles on the way. It was an amazing experience and a trip that literally saved Alex's life. Alex was fitted with the Bi-PAP and he has been so much better since he has had it.

I will never be able to thank Rotary, SOFT or my special friends in the US enough for all that they did for us this year. I only hope that SOFT Australia can help others in Australia so that families don't need to feel as alone as I did.

Visitors Since 3rd June 1999