Antony is 8 years old and was diagnosed at 15months old.  I had to be induced on the due date (which for me is normal) but 16 hours after being induced, he still did not want to make an appearance, so they induced again and 3 hours later I had a beautiful but tiny baby boy.  Antony was 4lbs 3oz and was not breathing very well and seemed to be almost black at birth, they rushed him to a nearby bench and started a brisk massage and gentle body patting and a couple of minutes later I heard what I thought was a cat mewling. You can imagine my shock when I was told it was my baby.  All this time poor old dad was watching on and feeling helpless unable to calm my fears about what they were doing. Finally they bought Antony to me, he had the darkest and thickest thatch of hair I had ever seen and what seemed to be very olive skin.  Antony did not take to the breast at all, he would suckle for a minute let go and go to sleep, the nurses said to keep persisting so for 3 days it was a feed for a minute every hour. Antony slept continuously and had to be woken every hour , but he never stayed awake long. In the first two days Antony's weight dropped dramatically to just under 3 1/2 pounds but nobody seemed concerned least of all the Pediatrician who only saw him only once. We finally went home on day five with our baby and lots of concerns, after we were home we took turns every hour on the hour trying to feed him.  Our first clinic visit was a nightmare, I was accused of not feeding Antony properly, as you can imagine I decided not to return to the clinic and instead go to good old mum.  We put Antony on to formula feeds at 6 weeks along with alternate breast milk feeds. I lost my milk at 3 months.  At 3 months of age Antony was finally gaining weight and was sleeping right through even when we fed him at night. Antony progress was very slow compared to my eldest son and at 6 months we began visiting Drs for some answers.  We were told we were everything from neurotic to people who were looking for problems that didn't exist. At nine months Antony still was not trying to roll or even hold up his head, he would just lie on his back and stare at what ever was above him.  Once again another round of Doctors and once again go home lady you worry to much, at 11 months Antony developed a severe chest infection which eventually lead to Asthma and continual hospital visits.  At 15 months he was admitted to hospital with severe Bronchiolitis which turned to Pneumonia.  Thank God, the visiting Pediatrician saw something else in Antony.  He commented on his tiny stature for a 15 month old and took a birth history and decided to run some tests and lo and behold we had the diagnosed 49xxxxy. He knew nothing at all of this condition and refused to talk with us in case he misinformed us, all he could do was give us copies of old medical text books about this condition. He referred us to the hospitals genetic Doctor.  She was knowledgeable about this condition, having diagnosed a 6 year old the previous year.  Still much of the information was old and out of date and her prognosis for Antony's future was very bleak indeed: he will never attend normal schooling or pre school, he will work in a sheltered work shop environment, he will never communicated verbally. Well after a week of absolute self-loathing for what I had done to our son, I was told it was not our fault and it just happens to 1 in about 100,000 births and it was not a hereditary thing. So at fifteen months we started planning for Antony's normal future, we were determined that he would be just as happy and loved as all other kids despite what we were told.  He started physio an OT at 15 months, he sat at 16months, he walked at 19 months (didn't crawl at all, trying to make up for lost time I guess). We had a great support group in our friends and family who continually worked with Antony when we were to pooped to go on.  He started speech therapy at 20months and uttered his first sound at 22months(Yipee).  They said he couldn't do it.  He started a normal mainstream preschool at 2yrs old, and his social interaction took off big time (best thing we ever did) His progress after that was on a steady incline, he saw the genetic Doctor every 3 months and they were amazed at his progress. Antony has been the object of 3 case studies in Australia up to this time and yet I have been unable to obtain copies. After many discussions with his doctors and the education dept in NSW Australia, it was decided to start Antony at normal mainstream school with a teachers aid at 4 1/2 years old. This was intended to give him a head start on his learning.  He repeated kindergarten the 2nd year and he has never look back. He is now in 2nd grade at a normal school in Melbourne Victoria with a full time teacher’s aid, he receives speech and physio therapy at school twice a week. At 4 years old Antony developed epilepsy, a very mild form known as absence seizures (he goes into his own little world for a while and then comes back and continues on with what he was doing).  He is on Zarontin syrup medication for this and is doing fantastically. At 7years old he developed a foul temper aimed at anybody who encroached on his personal space or did something he didn't like, he was becoming a danger to other kids in the classroom and occasionally to his teacher and his aid.  We went to his pediatrician armed with a chart of all the incidents over a 7 month period and showed him how the behavior was increasing in severity.  After many, many discussions with Doctors, Teachers and School Counselors, it was decided he was suffering with a form of ADD but not ADD, as they were not sure about symptoms from the syndrome they were trying to tread very careful at that time. My Pediatrician contacted colleagues who delt with Klinefelter syndrome and was informed that in some of these kids, temper was part of their makeup.  Well we decided that it wasn't part of Antony's so we tried the ADD medication of Ritalin 10, only a very small dose twice a day, and it has worked miracles for him. We have back our little boy who now talks quite freely and runs and jumps and rides a bike and also is learning to swim to his utter delight.  We treat Antony just like his 2 brothers and he responds very well to the normal environment, to us he is a normal little boy with normal little bad and good days (many more good than bad). We had been informed that Antony's IQ would never be above about 25-30, well he was tested 2 months ago and his IQ is 56, his learning skills are only 6 months behind normal 8 year old and his living skills far exceed his age of 8 at 11years old. They say if you lack something in one area you make up for it in another.  Our son is living proof that there is life after 49xxxxy diagnoses.  Good luck to you all and enjoy your very special little men. Attached is a picture of Antony taken this year at school (what a handsome guy). Story Submitted by speetj@bigpond.com

 

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