Geoffrey was born on December 18, 1987.

I didn’t know at the time that Fragile X ran through my family.

My pregnancy went without any problems. I had the routine ultrasound at 18 weeks or so with no indication of any issues that were to come. Towards the end of my pregnancy, Geoffrey was sitting breach, and there was concern that he may have to be delivered by Caesarean Section because of this. I went to hospital for the Obstetrician to try and turn him in the womb to no avail. He finally did turn, a couple of days later – about 2 days before he was born.

On the night before his birth, my waters broke. My then husband did not believe me and when I rang the hospital – all they kept on asking me was “Are you sure you haven’t wet yourself”. I was getting cheesed off with this, because I knew I hadn’t. I was admitted to the labour ward and there I sat for the next 12 hours with out one twinge of labour pain. I didn’t sleep that night, partly because of excitement, that I was going to meet my baby boy for the fist time, and also because of anxiety. I am not very good with pain at any time. The doctor saw me in the morning and gave me a choice. He said that he could insert a drip to induce labour, but having done all that, I might need to have a Caesar anyway because Geoffrey was sitting high up in the womb. His head was not engaged in my pelvis, so he thought that the exercise may have been unsuccessful from the word go. Whilst he did not make any firm suggestions, reading between his words I replied that I might as well have the Caesar and be done with it. I didn’t see the point of putting myself through all that pain, only to end up with a Caesar anyway.

Geoffrey was born at 1.30pm on the 18th of December, 1987. When he was born I noticed that his cry was funny. It sounded like a motor car going through all the gears. The other thing that was different was that he did not have a developed suck response. Of course being my first child, I did not pick up on any of this at the time. As a baby, he lay floppy in my arms. He did not have the strength that most babies have when they are born. I think one of the nursing staff who was looking after Geoffrey picked up on this whilst we were still in hospital and made a vague inference to my parents one evening when they were visiting but it did not go any further than that.

I was discharged on Christmas Day so Geoffrey had his first Christmas home with us at one week of age. Of course my parents and sister doted over Geoffrey. I was struggling to breast feed with a nipple shield but it wasn’t being very successful. I struggled like this for the first six weeks of his life. I was tired and stressed and struggling to feed properly and I think in hindsight, it was because Geoffrey was not getting sufficient nutrients to fill him from my milk. At six weeks, it had just got beyond me, and I ended up putting him on the bottle and life was so MUCH better following this. I spent six months off on maternity leave with Geoffrey and then returned to work three shifts per week.

In Geoffrey’s first year, I wasn’t aware of the milestones that he needed to reach. It sounds like I really didn’t have any idea, but in reality – I didn’t. I just took it as it came. He was late in everything. He didn’t crawl until he was 12 months old. I can remember Christmas day 1988, watching rock back and forth in his attempts to make his first attempts at crawling. He couldn’t sit up by himself and he did not have any speech sounds. What noises he did make were primitive growls.

At Geoffrey’s first birthday, I became pregnant with my second child, Katherine. I knew I wanted my children close together, so that they could grow up together and play. It was during doctors visits for my pregnancy and other various ailments that my local doctor grew increasingly concerned about Geoffrey’s development. He had noticed that I was always carrying him because he couldn’t walk. When I became frustrated, not only with his questions, but other doctors as well, I asked why did he keep on asking me these. It was in that visit when Geoffrey was seventeen months old. He got down his pediatric book from his shelf and asked me all the developmental questions that Geoffrey should have reached at his age. I answered ‘yes’ to only one question.

From there we were referred to a paediatrician who took a blood test for Fragile X. I still can’t fathom why on earth he thought of Fragile X when there is no identifiable history of it in my family, but he did, and when Geoffrey was nineteen months, the blood test returned a positive result. I had to attend an appointment with my husband at the time, and he discussed genetic counselling with me despite the fact I was seven months pregnant at the time. I was annoyed with this. Firstly I was in shock, and secondly, there wasn’t much that I could do about my pregnancy with Katherine anyway. I don’t know if he could have done it differently, maybe waited until after Katherine was born to educate me about Fragile X and all that it means, but he did it his way anyway.

Following Geoffrey’s diagnosis, we embarked on all the early intervention rounds… Noah’s Ark, Special School Early Intervention Program, Mainstream playgroup, and Physio amongst other therapies even though I was seven months pregnant. It was stressful because I was trying to come to terms with a disorder that I knew nothing about. Many of the doctors that I was involved with, also had little knowledge about Fragile X, so for all of us it was a big learning curve. One of the things I was really blessed with, was a fantastic local doctor. He was brilliant to me and supported me through some very difficult times, especially after my marriage broke down when Katherine was seven months old. His name is Doctor Tony Palmer and works in his own practice at Mt Evelyn Family Medical Practice. If you are Australian and live near that area, I would recommend him and his wife as excellent local doctors.

Geoffrey over the years has grown into a handsome young man. The photo that is loaded on this page, was taken Christmas 2007, just after his 20th birthday. Geoffrey has the most gentle personality and a keen sense of humor. He has an associated Autism that goes with his Fragile X, so for him he exhibits auditory defensiveness. Through this, he finds it difficult to tolerate any loud noises. We find it is more problematic when there is more anticipatory anxiety to events, but despite this we have challenged him when in safe environments. He has gone to Riverfire and watched the F1-11’s do their fly over. Geoffrey also has fixations. He loves Star Wars, and of course F1-11’s, trains, planes and old fashioned cars. He lines his cars and trucks up in a row in his bedroom. He loves doing jigsaw puzzles and we have just completed our first one for this year, a picture of a steam train traveling in the snow.


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