G'day from the Morris family. My name is Kellie, my husbands name is Tony, we are the proud parents of four beautiful children the youngest of which, Lachlan has 49xxxxy. Lachlan was diagnosed at 6 months, 11 months ago now and I remember it as clearly as if it were only yesterday. Thinking back I think the hardest time for us was the first six months. I knew before he was born that there was something different about him compared to my previous pregnancies. I gained little to no weight in his pregnancy, he did not move or kick very much and at approx 30 weeks the doctors began to monitor him more closely because he was in their words "failing to thrive in utero after quite a few scans the doctors were convinced he had asymmetric growth disorder and so at 39 weeks I was induced. On the 7th of March 2001 I gave birth to a beautiful, not so bouncy baby boy. He weighed in at 2560gms or 5lb10oz,he was 45cms long and had a head circumference of 33cms.He did not cry and was very sleepy but I thought that was the end of our worries, I thought now that he is here I can feed him and he will grow quickly but we could not have been more wrong. Lachlan showed little to no interest in breastfeeding and for the first 24 hrs I expressed small amounts of colostrums into a medicine cup and fed him that way, the nurses and doctors told me to persevere that he was simply behaving like a premature baby and that despite all the scans my dates may have been wrong. In Lachlan's first 10 days of life it would take me 20 minutes to attach him to the breast he would then feed for 2 minutes and fall off the breast, he would then sleep for a little while wake and we would start again, from about 8 o'clock at night to sometimes 3 o'clock in the morning Lachlan would cry and cry (his cry wasn't that of typical baby either it sounded more like a cat mewing) no amount of trying to feed him would work and eventually he would just exhaust himself and fall asleep for 5 to 7 hours and then the day would begin again. At 10 days at a visit to a breastfeeding clinic we discovered his weight had dropped below 2 kilos and it was then decided to put him on formula. Even after going on the bottle Lachlan stilled showed little interest in feeding, I had Lachlan drinking from a fast flow teat and even so it would take him 30 minutes to drink 40mls, he appeared more settled though and slept a lot to the point where I was waking him up every 2 to 3 hours to feed him. Lachlan did not babble or talk, did not move and showed little or no reaction to any sounds around. He was living in his own world, I thought he was deaf but even so no doctors or child nurses I spoke to seem to take me seriously. At 6 months however I went to baby clinic and there was a new nurse working, she immediately rang my G.P and asked for him to see me as soon as possible and suggested to him that maybe he should refer me to a pediatrician if for nothing else but to ease my mind. The Pediatrician saw a problem straight away and sent Lachlan straight for blood tests, his immediate concern at that stage was that he had Prader Willi Syndrome. Two weeks later, September 17th 2001 we were ushered into the doctors office, he waited for us to be seated and than began, "Well it is not what first thought, it is not Prader Willi it is something that I have never seen before in all my 25 years of working in this field, Your child has what is known as XXXXY syndrome" I did not hear much more after that he just started opening up outdated text books and asking his receptionist to photocopy different pages , I do remember him saying your child is likely to only have an average IQ of around 25 to 30, he will be severely mentally disabled and maybe we should speak with a social worker. Needless to say we cried, we asked why? and how? I blamed myself, we got angry we wanted more tests we wanted second opinions. In a sense we understand now that we were grieving. Until one day when I was feeding Lachlan and I looked at him and I realized our little boy was still alive and he had not changed he was still the same child we had fallen in love with and cared for in those first six months only now all those worries and concerns we had now had a name. But I still could not bring myself to believe that it could possibly be as bad as the doctor had said. I could not find anything in the local library and so turned to the internet while visiting my parents, there was not much there but what I did find were a list of email addresses of other parents, I contacted 2 here in Australia. Their replies came quickly and with them a lot of reassurance that indeed it wasn't as bad as the doctors had first said. Lachlan has Physic ,Speech and Occupational therapy every week most weeks and has done for around 11 mths.  He is getting stronger everyday. His appetite has increased 200%. He rolled over at 7months,he now reaches and plays with toys ,he loves playing with my face and pulling my hair and generally speaking he is the most placid ,content and happy child, he will still go off into his own little world and totally ignore everyone but for the most part he seems a lot more aware of his surroundings and does react very different when there are people around he does not know. More recently at 16 months Lachlan sat without support although he can still not sit indefinitely he will sit unsupported for longer and longer each day. Lachlan says "mum mum mum" and will sometimes wave hello. Although progress is slow he is making it and we are made more aware of it every day and we are very proud of him. Lachlan has been generally healthy in every other way, he has had a couple of respiratory infections, he has had grommets put in both ears, he had two undecsended testes which were recently brought down, and his arms sometimes appear to turn completely around I know that there is a name for this but I can't remember it. Apart from these minor ailments he is a very healthy little boy. Lachlan does not know what he is not supposed to be able to do and I am sure that if he has half the determination the rest of his family has that he will prove all those outdated textbooks wrong.   Update on Lachlan:  Well it's been about seven months now since I sat down and wrote about my son Lachlan.  In that time we have had a few back steps but a lot more in a positive direction.  Not long after I last wrote Lachlan was hospitalized with RSV and pneumonia and was there for 9 days he was initially wrongly diagnosed with bronchitis since the he has a lot more upper respiratory infections.  He also now sits himself up and rolls himself everywhere, he is more interested in playing with toys and with us and he just loves initiating cuiddles, with a little support around his waist he can stand on his feet for a short amount of time.  His appetite is great and he is putting on weight all the time although he is still only very small but quite long in length.   We have had quite a few problems with him hair pulling other peoples not his own and biting although a slight smack on the hand soon reminds him that the behavior is not acceptable.  He also grinds his teeth and hits himself in the side of the head but we are slowly working on those.  Most recently we discovered Lachlan was longsighted and he now wears glasses being so small he looks like a baby graduate all he needs is the cap and gown.  All up although it would be nice to see him jump ahead in leaps and bounds we are excited just to see the tiny steps..  Story Submitted bykelmor72@optusnet.com.au

 

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