Our first and only child, Jackson, was born April 14th, 2001, and diagnosed with with 49 xxxxy syndrome at 18mths (October 2002.  We are from Townsville, Australia. Unbeknown to our Obstetrician, our symptoms started through pregnancy where Jackson layed in the same position up until 37 weeks, when I was induced because of spontaneous leaking of waters.  After an 8 hour labour, Jackson (6lb 2oz) required oxygen, therefore receiving a low Apgar score, and was born with moderate-severe Talipes, requiring full leg serial casts for the first 3 weeks, moving on to physio & strapping (2 – 3 times weekly until 5 mths of age). The Pediatrician commented on his ‘odd’ appearance, and for the first five days nurses from all over the hospital visited our room for what felt like a ‘freak show’. Jackson was unable to suck and was very sleepy.  He was not interested in breastfeeding, but a nurse managed to find a suitable breast shield that he accepted.  He lost over a pound in his first 2 weeks and was continuing to lose weight.  My milk depleted due to the breast shield and stress (although I tried to regain), and was therefore fully bottle-fed by 4wks.  He broke out in a severe facial rash, which we had tested, but eventually reduced to cradle cap after changing his cows milk formula to soy. Jackson was noticed to have Plagiocephaly at 4mths, due to a favoured laying position – he hated being prone.  He was quiet and placid, and friends & family all commented on how wonderful a baby he was (and still is!).  He had a quiet ‘squawk’ of a cry, but his facial expression said enough for how upset he was.  He’d purse his lips, as though he was about to whistle when he was hungry, rather than cry.  Jackson started to ‘lag’ around 4 – 5 mths with just being happy to lay and watch his surroundings, rather than attempt to roll and play. At 5mths his right foot hadn’t corrected successfully, so Jackson underwent Orthopedic surgery to elongate his Achilles Tendon, with a full leg cast for 6 wks.  Two days after his hospital visit, he contracted the Gastroenteritis strain “Rota Virus”, and was readmitted to hospital for one week on a drip to replace lost fluids. At seven months Jackson developed Croup, with each bout lasting 2 wks, where nights were sleep-deprived from coughing & sneezing fits.  He had four severe bouts until 10 ½ mths. Jackson finally learnt to sit at 8 ½ mths just before Christmas!  However, he was unable to get himself up or down from this position, or ‘commando crawl’ until 16mths of age. At 10 ½ mths he contracted RSV, and was hospitalized with Bronchiolitis for 2 wks on a drip & oxygen.  On admission his oxygen saturation was 88%, and the nurse couldn’t accept that this was a correct reading as he hadn’t turned blue.  Jackson struggled with maintaining a saturation of 95% before being discharged. We were warned of future chest problems & possible Asthma from the RSV, and were prescribed Ventolin & Seretide (steroid preventative) to diminish rattliness & coughing.  We struggled with more sleepless nights of coughing & sneezing, until visiting an Ear, Nose & Throat specialist, who booked Jackson (at 13mths) in for an Adenoidectomy; insertion of Grommets (because of a flat-line air pressure ear test); and a Laryngoscopy (to check for a ‘floppy wind-pipe’ because of Stridor). Although there was a slight improvement after the operation, Jackson continued to cough/sneeze until once again contracting Rota Virus at 17mths.  Our regular Pediatrician (who I must add commented on his odd appearance at every previous visit, then sent us to a Geneticist at 5mths and concluded with no Syndrome-match) was out of town, so saw another reputable Pediatrician that we’d seen on roster at previous hospital visits.  He admitted Jackson to hospital yet again with severe dehydration (Jackson refused to drink any fluids), once again on a drip & oxygen.  A chest x-ray concluded no Bronchiolitis, which started the doctor wondering about his so-called Asthma, with continual rattliness, regardless of the steroids being administered through his IV.  The new doctor took a complete history and commented on his unusual appearance.  I thought “here we go again”.  Being without a Pediatric Respiratory specialist in Townsville, we were flown to Brisbane where Jackson had a Bronchoscopy, removing ‘gunk’ off his chest, and  showing that he had a floppy opening to his left lung, which would improve over time.  A month later and he is now free of coughs and sneezes WITHOUT Asthma treatment, although requiring PEP (face mask) physio therapy 2 – 3 times daily. While in Brisbane, our Pediatrician referred us back to Genetics & Neurology specialists.  Genetics were happy with his appearance, concluding that he had ‘maternal familial features’ and were impressed with his awareness and intellect for his age. The Neurologist had a similar observation, however ordered a string of tests, whereby discovering 49 XXXXY only three days ago.  Although still in shock, we’re relieved that there is an answer to all of these suspicions.  Finally all is explained, from his sucking & low tone problems, to slow teeth development & small genitals. Apart from his lagging physical development, Jackson appears inquisitive, aware, and has a great sense of humour.  He has a great throwing arm, and loves being around other children young or old. He’s very cautious of new adults, objects and situations, although eventually adjusting.  He’s the ‘favourite’ with most carers at Daycare and although his peers have moved on to the toddlers section, we’ve been told that there’s always a place for him there.  He communicates well without speech, by pointing and vocalizing appropriately.  He says mum-mum and is beginning to babble and make ‘soft-letter sounds’.  Although he has some comprehension of the English language, he is unable to reciprocate verbally (almost as though the connection between brain & voice is not yet there). With continual Physio, Speech & Occupational Therapy guidance since 7mths, we believe that he’ll be walking within the next six months. He can now pull himself to stand and is starting to walk along furniture.   His weight has always been on the 10%, and length recently climbing to the 25%. Although he now has restful nights sleep, we have never been able to establish a daily sleeping routine, as each day is unique.  One day he may require one sleep, and the next three. His immunity has also been tested and is fine, therefore the doctors think that his illnesses have been a case of bad luck, rather than syndrome-related.  If there are any similar cases of these illnesses, we would be interested in hearing from you. Matt & I are still trying to fathom how our future may change away from the ‘normal’ life that we had envisioned, yet we are so grateful to have Jackson in our lives, and couldn’t imagine him any other way, than the wonderful child that he is now. UPDATE 17th November 2005 Jackson, now 4 ½ is our eldest child of two. Emma turned 2 in September 2005. We are so impressed with Jackson’s progress over the years. He began walking at 2 ½ years and with weekly speech therapy, is getting better at talking as time goes by! His signing is wonderful – Jackson can sign up to 200 words, although it is now almost a distant memory at home, as he’s taken to talking in sentences. He’ll become very frustrated if we don’t understand him, and chooses to be very quiet in public, than attempt to be understood. He recently received a Spectronics Mini Mo (talking device) with the intention of making conversation in public – for use at Special Education School and Daycare (rather than communicate by sign language there). Jackson is still a gentle, well-loved child all-round! He loves playing with older children – with girls as they tend to mother and protect him, and with his teenage boy cousins, for the rough & tumble! He also loves his sister and is protective of her. We’ve recently moved to the beach where he enjoys swimming (yet hates getting his head wet), and playing in the sand. Jackson knows all of his colours, can count to 10 and loves books and drawing. This is not a brag list – yet only to impress upon parents with children who have just been diagnosed with XXXXY, that there is hope for a fulfilling life for their child! As time progresses, Jackson’s chest illnesses are diminishing. He was diagnosed with Bronchomalacia of the left lung at 18 months, and was being hospitalised approximately every four months with Pneumonia. 2005 has been a great year for his health – we’ve learnt to start a course of anti-biotics at the first sign of a runny nose, which keeps the chest infections at bay! He is still receiving exploratory surgery annually to confirm any changes in his lung as time goes by. There is certainly an element of high-maintenance with Jackson. He can be insecure and needy, and still has little concept of time – everything must be NOW! Once an idea is in his head, he can’t let it go. He’ll throw mini-tantrums and lashes out physically at Emma if not getting his own way. We battled with toilet training for about a year unsuccessfully, until it just ‘fell into place’ around six months ago. In hindsight, I wish I had have delayed this, as there is no point pushing the toileting if the nerve connection is not yet there (just like expecting an 8 month old to be responding to toileting). Jackson still wears a night nappy and soils as soon as we put one on him, rather than on the toilet. This too will come! I’ve found that as parents, we’ve had to change our technique to handle his uniqueness. I’ve personally struggled emotionally with his high-demand, but can see it is definitely getting easier as Jackson grows older.   Story Submitted by: rke85634@bigpond.net.au

 

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