back Letters and articles
about children and adults in the UK with Lowe Syndrome
Newsletters in pdf format: January 2004 January 2005 January2006
My introduction to Lowe - Dr A. Norden LST Medical & Scientific board
Andrew's Story (now 32years old)
Thomas is a walking miracle (Thomas meets James Beattie)
Take It Easy Magazine Sept05
Penny Lancaster Patron Daily Express & OK!
Ham and High Nov 05 - Jonathan Ross Addenbrookes grant
Lowe Syndrome - February 2002
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Our first child's birth was anticipated with great excitement and joy. The pregnancy was without any problems but the labour was long and arduous and as soon as John was born there were signs that all was not well. He was a good weight but hypotonic (a 'floppy baby') and he was given oxygen. As soon as we looked into his eyes we could see something was wrong and within 20 minutes it was confirmed that there was a problem but nothing specific was mentioned. Within two weeks we were at Great Ormond Street for the removal of cataracts from both eyes. Although we did not know at that point, John had Lowe Syndrome[1] which can affect the eyes, kidneys and development of the brain. We made regular trips to GOS and two months later glaucoma was diagnosed. John had two operations - the first being unsuccessful. From the first visit to GOS, John had to wear glasses and this attracted a
good deal of attention from anyone and everyone - some welcome and handled
sensitively and some intrusive and hurtful. We tried using contact lenses but
the difficulty of inserting and removing these on a 12 week old baby proved
too much for all of us. We reverted to spectacles and the funny looks we got
in public --- their problem, not ours, we thought. |
John aged 7 years old, dressed as Robin Hood |
Everyday we coped with the differences between the expectations and aspirations we'd had before John's birth and the situation we found ourselves in. No one seemed to really know what was wrong, why our baby had problems with his sight and why he seemed to be developing so slowly. All the same he proved to be an adorable character who charmed the socks off everyone who met him, with a dynamic mixture of resilience and sensitivity. We had faith in him and felt reassured by his ability to cope. In all honesty we came to a point where we didn't care how or why this had happened --- we'd had dozens of tests on ourselves and on John and nothing was conclusive, so what the heck --- he was healthy, the cataract and glaucoma ops had been successful and he was a charmer with a Mum and Dad who adored him.
Eventually we were persuaded to have further tests and we were given a diagnosis of Lowe Syndrome. This was something we had never heard of - and we had both been working with disabled people for 20 years. The trouble was that nobody else seemed to know about Lowe's either. One paediatrician when asked about it said ' I'd never heard of it until now. I expect you'll be able to teach us a lot.' The prognosis was devastating ~ learning disability ranging from borderline to severe, seizures, severe behaviour problems, problems with the kidneys ("Leaky" kidneys, or renal tubular acidosis), short stature, tendency to develop rickets, bone fractures, scoliosis and joint problems and an expected life span of about 30-40 years if no complications. We were lost and felt very alone. We were referred to the local multi-disciplinary assessment team and there was very good input from O.T. and physio professionals. By 20 months, John was beginning to stand and try to walk around by holding on to furniture and beginning to try and talk. His comprehension was good and he was referred for Speech Therapy.
By the age of three he was attending a Montessori nursery; taking his place alongside his able bodied peers and thriving. At this point GOS got in touch to arrange tests and investigations into the state of John's kidneys. He had had regular blood tests through our local paediatrician but these tests would be more sophisticated. It was only a 24 hour stay but the tests were painful to watch. Fortunately, any problems with John's kidneys were very mild.
It was at this point that medically, things began to calm down. John was happy at nursery and had regular checks on his kidneys and growth but the checks for glaucoma became a real problem at around age 3 because John hated the 'puffer machine'. It was agreed that he would attend the local Day Hospital every couple of months for an EUA (examination under anaesthetic). He soon got used to this and the procedure was more traumatic for us I think-watching him go under -even if it was only for 10 minutes. These checks are still done but in the last 6 months John, at 7 years old, will tolerate the puffer again. He also saw the ophthalmologist on a regular basis because he had developed a squint with slight nystagmus. He was patched and that has also now come to an end. He still has a slight squint when tired but it does not seem to affect his vision.
Although we began to feel reassured medically, we now became more concerned about John's intellectual development and about his formal education. He was assessed at the Wolfson Centre as well as locally and it was confirmed that he had moderate learning disability. In addition he had a variety of behaviours which could be repetitive, ritualistic and sometimes obsessional. These persist to this day, though not to the same degree, and there is a suspicion that John may have autistic tendencies.
Forging a path towards the right setting for John's education has been, and still is, probably the most difficult part of shepherding his path so far. Lowe syndrome is so rare and unknown that no one knows quite what to expect from him. Furthermore, John does not seem to fit a typical pattern (if there is one) within his condition. Thankfully he seems to be less affected than some boys with Lowe of his age and in a way this makes things more complicated. Of course, in the end the teachers, assessors, educational psychologists, clinical psychologists etc have to take him as he is --- an individual. He is still sociable, happy, insightful, helpful and very practical but his real difficulties are subtle ones that need to be addressed with sensitivity --- he has mild tactile defensive syndrome, difficulties with processing auditory information, finding it hard to shut out external stimuli and focus on what he's doing. He has become labelled as easily distractible and naughty at his mainstream school - even though he is in the ASC department. We have been under a great deal of pressure to move him to a Special school but the nearest is 15 miles away, which takes him away from familiar friends and surroundings and still does not seem to fit him. We have just found another local mainstream school with more understanding staff and hope this new setting works out.
At home, John is no different to other 7 year old boys -he loves Thunderbirds, James Bond, dustcarts and charity shops. He's very keen on helping; takes the rubbish out for the binmen on Fridays, helps to feed and clean out the chickens, cooks and sings. The arrival of his sister nearly 4 years ago shook his world somewhat but he coped well and by and large the sibling rivalry is nothing unusual. We do have concerns for the future. Already Sophia is getting to a point where she is sometimes more capable than her brother and this can lead to some disputes and a knock to John's self-esteem. We have to make concerted efforts to reassure him that he is as competent in his way as anyone else.
We have no more idea of what the future holds than anyone else. We attend appointments for checks on John's eyes, kidneys, his teeth, his educational needs. Sometimes our life seems to consist of endless trips to another Specialist, but all in all John contributes a great deal to our lives and to the lives of other people who know him. We have had to find imaginative ways of helping him to deal with the difficulties he comes across, but we try to foster as much independence as he can cope with and give him strategies that he can use alone. He continually amazes us with how perceptive he can be and defies the gloomy prognosis of four years ago.
[1] Lowe Syndrome is caused by the lack of an enzyme which is essential to normal metabolic processes that take place in a certain part of the cell called the Golgi apparatus, so that cell functions regulated by the Golgi are abnormal and leading to various developmental defects including cataracts, kidney and brain problems. The syndrome only affects males, though females may be carriers. In our family John is the first child ever to be born with Lowe Syndrome as far as we know