HYPOTONIA NEWS UK Issue Number 2, January 2000 ======================= In this issue: Letter from the editor /Getting personal /Internet News / Useful UK contacts / Getting in touch ============================== Medical disclaimer: Unless otherwise stated, views are personal and any medical queries should be addressed to a doctor. =============================== STOP PRESS!! ================================ UK Magazine Practical Parenting to mention this hypotonia newsletter and the UK parent support network in its March or April issue! ============================== LETTER FROM THE EDITOR ====================== Testing, testing. At our son's review at the Child Development Centre, at around 12 months old (Oct `97), the paediatrician said: hmmm, let's see how he does in the next three months (he was neither bearing weight nor crawling) and if we don't see progress "we will have him at the hospital for a day, run all the tests." Blood tests, urine tests, biopsy, brain scan.. Conclusion: there's something going on, we don't know what. We asked what we might gain from the results of tests and the paediatrician was frank: certainly unlikely to be anything curable with some "magic pill". What would be the treatment if anything was found? Therapies. So what do you do? Test for everything? What if the test shows something inconclusive and you end up with more questions than answers? What if you take a wait and see approach? A child with hypotonia may have one of many disorders or syndromes. The problem may in the muscle - such as a myopathy - or it may be in the brain, perhaps as a result of trauma or just abnormal development in utero. You may want to test for "everything" - or you may want a more structured approach: what are the clinical signs that lead your paediatrician or neurologist to suspect it is more likely to be a brain related condition (you may want to do an MRI scan of the brain) than a muscle disorder (which may require a muscle biopsy)? Are there any features suggestive of a chromosomal disorder (many can only be detected through a specific test on a specific chromosome - rather than a general chromosome screening)? Is the disorder or condition they suspect hereditary - in which case one or both parents could be tested before the child - these might include some of the myopathies and disorders such as Fragile X. You have the right to know exactly what your child is being tested for and the implications of a positive or negative result - and why they suggest that test. And to point out conditions you have researched yourself. At the time of the offer of a day of tests, we felt it more useful to devote time and energy to therapies. We'd been through the waiting for results of a standard chromosome test (it was normal) and couldn't face more of the same. Though when I had a miscarriage in July 1998 we asked to see geneticists. As we anticipated, the visit was useful but provided no concrete answers. We had our chromosomes analysed (normal) and I tested for Fragile X - to see if I was a carrier. I wasn't. Geneticists referred us to a senior neurologist. By now our son was two years four months, walking though not talking. She ruled out muscle disorders from examination (he had been developing muscle strength) and concluded he had ligamentous laxity and possibly a separate speech disorder. Looking into family history led us eventually to a clinical diagnosis of Ehlers Danlos Syndrome - Hypermobile type - a connective tissue disorder associated with hypermobility of joints and hypotonia. For us, holding back on testing allowed us to pursue answers on our own terms, when we felt ready. And to put together clues from family history and speaking to others. And specific areas of concern become more apparent at age two (is the child walking, talking, etc?) than at nine or 12 months. Others may prefer to run all tests and actively pursue answers from early on. A proper diagnosis is useful and desirable - but it may not be easy to get there. Parents should be included in the process every step of the way and be informed as to why a particular test is suggested; what it involves for the child; and what the results might show. If you want answers but your paediatrician is a "wait and see" person - or vice versa - then change paediatrician and firmly demand what you want. And while testing for specific disorders can sometimes wait, early intervention through therapies cannot. Natasha Brown ***Iulen is now three. He walks but cannot yet run or jump. His (lack of) expressive language is still a big issue. However, hearing assessments suggest he may have fluctuating hearing levels caused by middle ear fluid. He has low tone in the facial area - he cannot blow. He attends regular nursery daily with a support worker. ==================== GETTING PERSONAL =================== Matthew was born on 5th April 1994, after an uneventful pregnancy, but difficult birth. There was meconium present in my waters when they broke, signalling that the baby was distressed. Despite this, my labour was accelerated, and I had two shots of pethidine, one just over an hour before Matthew was born. He didn't breathe straight away, and was on the resucitaire for what seemed like ages. I later learnt that he was intubated at four minutes, and started to breathe then. When he was handed to me, he was all wrapped up and was making a sort of grunting noise. He was whisked away to intensive care. We were told he had probably inhaled meconium. He spent 24 hours in an incubator, and a total of 5 days in Special care. It looked so strange to see this 8lb8oz baby, surrounded by tiny premature babies. I wanted to feed him myself, but he had problems latching on. I was told to persevere, which I did. He was a very noisy, messy feeder. When we took him home, I thought he had made a full recovery. We had to take him back to the hospital at six weeks, which I thought would just be a paperwork excercise. Being my first baby, I hadn't noticed anything wrong. The only thing which concerned me slightly was his stridor - a sort of gasping for breath sound which he made when feeding, and also when crying. Also, his weight gain wasn't brilliant, despite feeding for 40minutes every hour or so!!! I was devastated to be told that he was very "floppy" and tests needed to be done. My husband went straight into denial..."How dare they say our baby is floppy". I just had an awful feeling of impending doom. I asked the doctor what he was testing for, and he said it was a general screen. However, when we took the forms away to get the blood taken, I saw Prader Willi written down. I went home and stewed over this for a few days, then rang our local genetics unit for advice on what this was. Matthew didn't have Prader Willi, nor any of the other conditions he has been tested for. At first, the doctors said his problems might be related to his birth, and they gave us a "diagnosis" of hypotonic cerebral palsy. At four months, Matthew had some febrile convulsions, and we were lucky to have an MRI scan. But this showed no obvious abnormalities. His weight gain improved when I started to bottle feed him, although he has remained on the lower centiles for weight. The geneticists feel that Matthew may have a rare metabolic disorder. He apparently has "coarse features", among other things!!! Matthew sat up at 11mths, crawled beautifully at 16mths and took his first independent steps at 30 months. He started to sign at around 2 years, and first said a recognisable word at around 3years. Now five and a half, he is stringing words together, but his articulation is not good. I'm unsure how much of this is down to his hearing loss and muscle weakness as opposed to his learning difficulty. Matthew attends a lovely school for children with severe learning difficulties. The facilities there are excellent, but we are hoping he will move to a school for the less disabled in the near future. ******Update: Matthew is now attending a mainstream school with support. ============== Charlie was born on 8th of June 1997 after an uneventful pregnancy, the only possible causes for concern were his lack of movement in the later weeks and I was monitored several times to check all was well. At birth he appeared fine but we were kept in hospital longer than planned as Charlie appeared to react to the hospital sheets, developing an angry rash wherever his skin touched, however we went home and all seemed fine. I planned to breast feed, and being my fourth child did not anticipate any particular problems, however Charlie appeared unable to latch on and despite extensive help from a breast-feeding councillor he simply couldn't do it - he could not coordinate the movements necessary to suck and swallow and he had an exceptionally receding chin which made staying latched on impossible for him. Bottle-feeding was only marginally easier, he made no effort, and made strange croup-like noises feeding in his effort to coordinate his movements. At 5 weeks the health visitor commented on his floppiness and that he didn't appear to be reacting to much, he slept 23/24 hours and cried inconsolably when awake. At his six week check up he 'failed'. Charlie was completely floppy still, and he didn't react to anything with his eyes. The doctor referred us immediately to our Paediatrician and a few tests were carried out which confirmed Charlie as having Hypotonia and Visual delay. No further diagnosis was issued and very little testing done. The neurologist saw him once and wrote; "I think it highly likely that Charlie has an intracranial abnormality'. No further explanation or help was offered, leaving us as his parents extremely distressed and uncertain as to his future. We had no idea of his prognosis. How could we without a diagnosis; all we had was a baby who lay limp in our arms, either screaming inconsolably or staring vacantly into space. There were no smiles, no eye contact, and we grieved for the precious 4th baby we had all longed for who was not now to be. Physiotherapy began at 4 months and at 5 months Charlie had his vision assessed and started wearing glasses which although not correcting the neurolgical delay, at least made the world a little clearer! He made steady progress, and was sitting unsteadily at 9 months although he continued to have head lag. Charlie began 'commando' style crawling at 13 months, walked around the furniture at 17 months and took his first steps at 21 months. He also began speech therapy at 22 months as it became clear that he was not following the usual pattern of babble-speech; Charlie remained silent even after grommets were fitted in his ears at 16 months. At first there was no speech and Makaton sign language was his only form of communication, but he spoke his first word 'Mamma' at 26 months and his language is increasing daily although his articulation is very poor due to the hypotonia and he drools profusely. Charlie is now 27 months old. He can walk quite well, although he has a drunken unsteady look, he cannot run or manage kerbs or steps, and he wears Piedro boots for support.. He speaks a few words and signs as well,. Best of all he interacts normally. His first smiles ocurred at about 13 months as his visual delay resolved itself and he is now a cheeky flirt! He still recieves physiotherapy as well as speech therapy and Portage and has started play group. We still have no diagnosis for Charlie but we are creeping a little closer, as we are waiting to see a Geneticist, and there are several syndromes which need to be ruled out. However in the meantime he continues to progress. Hypotonia without a diagnosis can be a lonely experience, but hopefully we can bring more families together where we can share our experiences and spread understanding and knowledge amongst families and professionals alike. Charlie's web site: HTTP://www.radford95.freeserve.co.uk ****Update: Charlie has been diagnosed with Hypermobility Syndrome/Ehlers Danlos Syndrome Hypermobile type - a connective tissue disorder. ====================== Christopher's story: After nine years of trying for a baby and two failed attempts at IVF our third one was successful as you can imagine we were ecstatic. But at thirty weeks I haemorrhaged very badly. This continued to happen every few days so I was in and out of hospital each week and was having regular scans. At thirty- six weeks the consultant who did my scan told me that the baby had signs of Downs and suggested an Amnio. He also suggested a termination to which we where horrified and said no to both, we were having this baby no matter what. When Christopher was born as far as everyone was concerned he was a healthy baby. As time went on and he wasn't doing what he should have been Tony and I kept saying he's lazy he'll do it when he's ready, only this wasn't the case. Our health visitor referred him when he was eight months old and we finally started physio at thirteen months, at first just one day a week, then two and now I am doing one thing or another four days a week. Physio two days, toy library once, portage once, special needs play group once and I have just had him accepted in a day nursery for all day Monday so I have some time to myself and I think it will do him good to be with able bodied children. Christopher's progress has gone as follows. - hold head up at 7months - sit up unsupported at 14months - commando crawl at 16months - finger feed at 22months - pull up from lying to sitting at 22months Things have progressed pretty quickly in the past few months and Christopher is now holding a fork and spoon, not scooping but can get the food to his mouth when I load it for him, he drinks perfectly well from a sports beaker, in fact I now leave it on the floor with him and he drinks from it when he wants (I never thought I'd see that day). He pulls himself up to stand at the bath no problem but doesn't do it anywhere else, tell a lie HE STOOD UP IN HIS COT TWO DAYS AGO. We have just had two weeks off from all our sessions due to all the hols so I have made it my priority to walk him all over the house and I have to say it has paid off I can see a big difference in him. Christopher has no speech as such yet although he makes all the right sounds(ma ma da da ga ga) and sometimes you can make out some words, Tony is convinced he said dodi for his dummy a few weeks ago but he hasn't said it since, I'm trying to use the Makaton signing with him but as yet he hasn't picked anything up. Christopher has had some tests done to try and find a cause but nothing found as yet, so far he's had MRI SCAN, THYROID, CHROMOSOMES,and a few others from blood samples and urine, the paediatrician hasn't mentioned any others and to be honest I think Christopher has been through enough, my only worry is that if we have any more children it could happen again. =================== My daughter's Elizabeth's (17 months) diagnosis has been an ongoing trial. She is extremely hypotonic in the legs and trunk and cannot yet crawl or walk. The first paediatric neurologist diagnosed her with benign congenital hypotonia. The second neurologist disagreed, and said it had to be cerebral palsy arising from an insult to the brain. The third neurologist said it appeared to fit within the general category of cerebral palsies, but wasn't sure exactly what she had. The physiatrist said it appeared to be some sort of muscle disorder and not cerebral palsy. The developmental paediatrician didn't know what to think. The MRI's of the brain and spine showed nothing unusual. We remain in the dark about her diagnosis, but meanwhile, Elizabeth is achieving remarkable progress in physical therapy and all of the doctors agree that if she continues to progress and ultimately walks, it will no longer matter what her diagnosis is. ============================= INTERNET NEWS ================= The Benign Congenital Hypotonia Site -http://www.lightlink.com/vulcan/benign/ Check out the latest updates. Child neurology web forum has moved and there is now a hypotonia/hypertonia forum: http://neuro-www.mgh.harvard.edu/forum/ (home) http://neuro-mancer.mgh.harvard.edu/cgi-bin/Ultimate.cgi has the list of forum topics - check out child neurology and hypotonia/hypertonia. Contact a Family UK - their index of specific disorders and support groups, with web links, is now available online free of charge: http://www.cafamily.uk.org ===================== UK - USEFUL CONTACTS ================= Network 81 01279 647 415 10 am - 4 pm Mon to Fri National Network of parents of children with special educational need. It offers help and advice within support groups for parents and raises public awareness of the need for integration. Advisory Centre for Education 0171 378 1446 9.30 am to 5.00 pm Mon to Fri answerphone after hours Independent national advice centre that provides free advice, information and support to parents with children in maintained schools. Disability Alliance Educational and Research Association 0171 247 8776 1am to 3pm Mon to Fri Advice line 0171 247 8763 2pm to 4pm Mon, Wed. Information and advice on benefits for people with disabilities, Also publish the Disability Rights Handbook - an annual guide to rights, benefits and sevices for those with disabilities and their families. Children's Legal Centre Ltd 0120 687 3820 2pm to 5pm Mon to Fri and 10am to 12pm Wed. Independent national organisation, concerned with law and policy affecting yong people in England and Wales. Advice, Advocacy and Representation Service For Children 0161 839 8442 helpline 0800 616 101 4pm to 10pm Mon to Sun For any child or young person who wants and needs an independent confidential advocate who can ensure that their wishes and feelings are heard and represented. =================== UK CONTACTS (USA: SEE BCH WEB SITE) To join UK list of parents of children with hypotonia and to talk to others, please send contact details to Natasha Brown nbrownlaco@hotmail.com. I will then send you the list of names. Please send me the next issue of "HYPOTONIA NEWS" Name: Email: Please add me to the list of UK parent contacts: Name: Address: Tel/Email: Name of child: Diagnosis (if any): Year of birth/age: (c) NB 2000 PERMISSION TO REPRODUCE FOR NON-PROFIT PURPOSES