 Case History Thomas, our first born, was just seven weeks old when I first noticed two small lumps on his left rib. HME is not present in either side of our family. It was a strange moment as I knew had the lumps been there previously, I would have noticed them. It was as if they had suddenly appeared. On gentle touching, Thomas did not flinch and was clearly not disturbed in any way by the lumps. Our GP, who knows us very well, was equally puzzled as she had carried out Thomas' six week check only a week previously. We were referred to a Paediatrician. I took Thomas on my own to see the Paediatrician. Thomas was 11 weeks old to the day. There was a Health Visitor also present. I was asked to undress Thomas and the Paediatrician gave him a thorough examination. After the examination the Paediatrician, whose manner had been pleasant to this moment, started asking a barrage of questions which made me feel increasing uncomfortable and intimidated. The questions included had Thomas been dropped? Am I sure he hadn't had any falls? Had Thomas been left in the care of anyone else outside close family? How was I coping with motherhood? Was I suffering from post-natal depression? The answers I gave were being written down and I could feel the eyes of the Health Visitor watching me closely. Eventually the Paediatrician advised that it was probable Thomas had cracked his ribs and that the breaks had started to heal. The alternative, he went on to say, was that Thomas had a rare bone condition. I dismissed immediately the rare bone condition theory as nothing like that existed in the family. Naively, I asked how Thomas would have sustained cracked ribs - presuming there would be an innocent reason for this occasionally occurring in a young infant. Like me, the Paediatrician had clearly dismissed the rare bone condition theory and implied in the strongest terms that a full investigation would take place into how Thomas had cracked his ribs. I was asked to take Thomas immediately to the General Hospital (about 30 minutes drive) where they have a special children's x-ray department. My hands were shaking as I redressed Thomas, still under the watchful eye of the Health Visitor. I collected Roy from his place of work. As we drove to the hospital I explained that we were under suspicion for causing harm (accidental or otherwise) to Thomas. Roy thought I was probably misreading the situation and just feeling sensitive. I even started to try and remember anything happening where Thomas may have incurred a broken rib, concluding that perhaps we were too heavy handed when we put him down in his cot. I was very upset. The radiographer took a number of x-rays of Thomas' ribs, and then spoke to us about the need to take an ultrasound scan of his chest. We thought this an unusual step to take, as even with our limited medical knowledge, a broken rib would be obvious after just one x-ray. It was then that we knew it unlikely Thomas had broken ribs and something else was not quite right. All x-rays and ultrasounds over and analysed, we were ushered in to see the Senior Registrar. The attitude towards us had changed. The Registrar was very sympathetic and told us Thomas had a rare bone condition called Diaphyseal Aclasis (or HME as it is more commonly referred to). We did not take in her explanation of HME, instead fear and confusion, and relief that we were no longer under suspicion, overwhelmed us. What exactly did it all mean? Roy looked pale but remained calm and collected, I broke down in tears. The Registrar wrote the name of the condition down - and to this day I still keep the slip of paper inside Thomas's Health Book. We arrived home early evening feeling mentally and physically shattered and exhausted. On her way home from evening surgery our GP called in. She offered huge amounts of support providing us with information she had found on HME in her own medical books and telling us that she would be looking on the internet that evening for further information. During her visit she advised that the Paediatrician had telephoned her to offer his apologies to me for the manner in which he had conducted our meeting earlier that day. He had heard that I had been very upset when told of the diagnosis. The explanation for his manner was that it is not uncommon for "new" parents who may have inadvertently caused injury to their baby, to not take them to a doctor until the bones have started to heal so resulting in a lump where the break occurs. On this occasion the view had been taken that we were guilty until proven otherwise! I do not believe the Paediatrician treated me appropriately. The events of the day are still fresh in my mind. Having spoken to other members of the HMESG, however, it appears that our experience was fortunately most unusual. I am also happy to end on the note that three years on from the diagnosis, the care and attention extended to Thomas has been exceptional and we feel confident that he is receiving the correct advice and is in good hands for the future. Sarah Nicholls
Case History This was constantly echoed at the conference by people we met. "We thought we were the only ones", "If only the support group has been around 20 years ago". It has not stopped us, though my daughters' childhood, adolescence and young adulthood were dominated by it. Most school holidays were taken up by one or the other daughter having surgery. HME also made its mark on our son, who is unaffected. He claimed he did not have enough attention - we deny this!! Our elder daughter was switched from the state to the independent education sector. The following round the playground "she's spastic, she's deformed" stopped immediately. She had a lot of trouble from her left hip, having had 13 operations on that joint alone. It took her six years instead of five to qualify as a doctor and has now a fulfilling post as a GP in South London. Our younger daughter is a speech therapist in the stroke unit of a London teaching hospital. I am nearly 60 and enjoying retirement, having escaped surgery until now. I am waiting to have my right ankle sorted out. I am hoping to have an open house and barbecue for my birthday as a fundraiser for the support group and I am hoping for fine weather on a certain day in July. Pat Savage (Please see Fundraising to find out the incredible amount Pat raised for HME - a very big thank you to Pat and her family for all the hard work and enthusiasm!)
Fund Raising
Many thanks too, to anyone we may have inadvertently missed off the list.
Donations If you would like to know more, or do some fundraising for the Group, please give Dawn a call on 01438 861866. Needless to say, all donations are very welcome and much appreciated!
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© Hereditary Multiple Exostoses Support Group 2002
Last updated 10 November 2002
Comments to support@hmesg.co.uk