Proper Diagnosis Helps Family Deal with Ehlers Danlos Syndrome

Diagnosis is the first step in treatment of Ehlers Danlos Syndrome.  Yet, 95% of sufferers remain undiagnosed*. 50 percent of patients waited more than 20 years to receive a proper diagnosis, according to the EDSawareness.com poll.

Charlie“Charlie Howram can dislocate a finger just by pulling up his socks – but, until he was four, the fact he was suffering from a genetic disorder went undetected.

This is because the eight-year-old’s entire family – mum Melanie, dad Mark, his sister and two brothers – also have the same condition, Ehlers Danlos Syndrome, but for them, the symptoms are far less debilitating.

Charlie’s parents only managed to get to grips with their son’s illness when he was finally diagnosed by experts at Sheffield Children’s Hospital, and now Melanie wants to raise awareness of genetic disorders – as problems associated with the conditions are the biggest cause of death of children aged 14 and under.

More than one in every 25 children born in the UK has a genetic disorder – or 30,000 a year.

Ehler Danlos Syndrome is a genetic mutation which affects collagen in the body, meaning Charlie’s joints regular dislocate because of an absence of normal collagen around them.

The youngster also has chronic pain amplification syndrome – where even mild pain is felt severely.

“We never really realised early on that there was anything wrong,” said Melanie.

“All the tell-tale signs of his condition we could all do. We were all extremely flexible, in the old days it would have been called double-jointed.

“So we didn’t realise there was anything wrong until Charlie was diagnosed and all the pieces fell into place and we realised that we all suffered from it.

“It normally comes down one side of the family, but in ours it is on both sides.”

Melanie said EDS is on a ‘spectrum’, similar to autism.

“Some people live with it without too many problems and in some ways it is seen as positive, especially for people like gymnasts to be so supple, but then there are people like Charlie for whom it is quite debilitating.

“It can be anything from pulling on his trousers or he can just be walking and his ankle will go, or his hip.”

Charlie now sees 14 specialists at five different hospitals, and also needs daily physiotherapy.

“He didn’t walk until he was 18 months old, and then when he did start he was in so much pain he stopped again,” said Melanie, 37.

He was also waking most nights, crying out in pain, but the warning signs became clear when Mark and Melanie went away for their 10th wedding anniversary.

“My mum took the children to Whitby and while Charlie was playing in the sand she noticed his ankles were collapsing.”

They took him to an orthotist who said that Charlie was suffering from hypermobility syndrome.

“It was the first time we’d ever heard of it and so we Googled it. We thought at first it couldn’t be that as we all had a lot of the symptoms listed. Then we realised we must all have it.”

The pain and exhaustion caused Charlie to have aggressive meltdowns. He would fall asleep at school because of the condition and his medication.

In desperation, Melanie took to the internet again and came across the Hypermobility Syndromes Association.

“They have been so fantastic,” says Melanie.

“They gave me the knowledge to really press the doctors. Few of them had actually come across someone like Charlie before. They kept saying he would grow out of it and I really felt that gaining the knowledge gave me some control over what was happening to him.”

Melanie said she and Mark, 41, walked out of the children’s hospital ‘in a daze’ after being told their son would need a wheelchair and lifelong medication.”

“We had to grieve, just to be able to carry on. We try to make light of it when we can. He is such a lovely happy little boy. But children don’t understand the pain they are feeling. We have to teach Charlie he is not going to get better.”

The UK Hypermobility Syndromes Association has been a fantastic resource for Melanie Howram and her family.

*Source: Dr. Rodney Grahame study

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  • Dignity not fully upheld when seeking health care: experiences expressed by individuals suffering from Ehlers-Danlos syndrome.

    AuthorsBerglund B, et al. Show allJournal

    Disabil Rehabil. 2010;32(1):1-7. doi: 10.3109/09638280903178407.

    Affiliation

    Abstract

    AIM: The principle of human dignity has assumed importance in ethics and constitutional law throughout the 20th century in the Western world. It calls for respect of each individual as unique, and of treating him or her as a subject, never as a mere object. As such, the principle constitutes an ethical cornerstone in health care. Patients suffering from Ehlers-Danlos syndrome (EDS) challenge medical care and knowledge in health-care professionals’ as symptoms sometimes are vague. Individuals with this disorder have reported not being respected when seeking health care.

    PURPOSE: To describe encounters in health-care situations when individuals suffering from EDS experienced that their dignity was not fully upheld. A further aim was to describe the long-term consequences of these experiences.

    METHOD: A study-specific questionnaire was designed, where individuals with EDS described their encounters with health care from a personal perspective.

    RESULTS: After qualitative content analysis, the following five categories were identified: ‘Being ignored and belittled by health-care professionals,’ ‘Being assigned psychological and/or psychiatric explanations’, ‘Being treated and considered merely as an object’, ‘Being trespassed in one’s personal sphere’ and ‘Being suspected of family violence’. Consequences of these encounters were ‘Mistrusting the physician’ and ‘Risking bad health’.

    CONCLUSIONS: The memory of not being respected is substantial for individuals with EDS and can last for years. As a result, lack of trust for the health-care system is created and they may experience difficulties in future encounters with health care. Therefore, health-care professionals should base their actions on norms that protect human dignity and confirm each patient as a unique human being with resources and abilities to master their own life.

    PMID 19925271 [PubMed – indexed for MEDLINE]

    Full text: Informa Healthcare

  • Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis.

    AuthorsRombaut L, et al. Show allJournal

    Arthritis Rheum. 2011 Jul;63(7):1979-87. doi: 10.1002/art.30337.

    Affiliation

    Abstract

    OBJECTIVE: The purpose of this study was to investigate functional impairment and the impact of pain in patients with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and to compare the burden of disease with that in women with fibromyalgia (FM) and rheumatoid arthritis (RA).

    METHODS: A total of 206 female patients were compared (72 with EDS-HT, 69 with FM, and 65 with RA). Functional impairment was assessed with the Sickness Impact Profile (SIP), and the psychosocial impact of chronic pain was quantified with the Multidimensional Pain Inventory (MPI). Data on symptoms were collected.

    RESULTS: SIP results showed clinically relevant health-related dysfunction in all groups. Significantly poorer physical, psychosocial, and overall function was found in the EDS-HT group compared with the RA group. In comparison with the FM group, the EDS-HT group reported similar physical and overall function, but better psychosocial function. T scores from the MPI revealed significantly higher levels of pain severity and life interference due to pain, and a lower level of perceived life control, in the EDS-HT group compared to the RA group. In contrast, the EDS-HT group showed significantly lower levels of pain severity, life interference, and affective distress in comparison with the FM group. Social support for help in coping with pain was similar between the 3 groups.

    CONCLUSION: EDS-HT is associated with a consistent burden of disease, similar to that of FM and worse than that of RA, as well as a broad impact of chronic pain on daily life, which needs to be addressed in the health care system.

    Copyright © 2011 by the American College of Rheumatology.

    PMID 21391202 [PubMed – indexed for MEDLINE]

  • Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment.

    Voermans NC1, Knoop H, Bleijenberg G, van Engelen BG.

    Author information

    Abstract

    CONTEXT:

    The Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Musculoskeletal pain is mentioned in the diagnostic criteria and described as early in onset, chronic, and debilitating. However, systematic research on pain in EDS is scarce.

    OBJECTIVES:

    We investigated prevalence and impact of pain and associated features in a large group of EDS patients.

    METHODS:

    We performed a study among members of the Dutch EDS patient organization (n=273) and included the McGill Pain Questionnaire to investigate various aspects of pain, the Sickness Impact Profile to study functional impairment, the Symptom Checklist subscale sleep to evaluate sleep disturbances, and the Checklist Individual Strength subscale fatigue to determine fatigue severity.

    RESULTS:

    The results of this study show that 1) chronic pain in EDS is highly prevalent and associated with regular use of analgesics; 2) pain is more prevalent and more severe in the hypermobility type than in the classic type; 3) pain severity is correlated with hypermobility, dislocations, and previous surgery; 4) pain is correlated with low nocturnal sleep quality; and 5) pain contributes to functional impairment in daily life, independent of the level of fatigue.

    CONCLUSION:

    From this large cohort of EDS patients, we conclude that pain is common and severe in EDS. Pain is related to hypermobility, dislocations, and previous surgery and associated with moderate to severe impairment in daily functioning. Therefore, treatment of pain should be a prominent aspect of symptomatic management of EDS.

    2010 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

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