The family of a little girl from Cashel who suffers from an ‘invisible illness’ are hoping to raise awareness of her rare condition with healthcare professionals and among the public.
Four year old Rebecca Spearman has been diagnosed with Ehlers-Danlos Syndrome. It is difficult to diagnose but it is estimated just over 1,200 people in Ireland may have the condition.
It took 18 months for little Rebecca to be diagnosed because of the lack of awareness of the syndrome even among healthcare professionals, so now her parents are telling her story in the hope of making a diagnosis easier for others affected.
The Spearmans are a family living in Cashel, dad JD, mum Rachel and their three children David (10), Sarah (nine) and Rebecca. Her condition affects all aspects of her daily activities. From the amount of sleep she gets due to chronic pain to how long she can spend playing. Her treatment programme has to be incorporated into daily activities which are also affected by her chronic fatigue.
Alongside the management of her chronic pain and fatigue the family also have to manage Rebecca’s expectations about what she can do. Trying to prevent her hurting herself while playing, reminding siblings to be extra careful with her, encouraging her to use her buggy even though she has become increasingly self-conscious of it. This self-consciousness has developed as she gets older and is more aware of public comments about a child of her age in a buggy.
Ehlers-Danlos Syndrome (EDS) is the name given to a group of heritable disorders of connective tissue. It is characterised by abnormalities of the skin, ligaments and internal organs and may be life threatening. EDS is known as an “invisible illness” where the fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue. People with EDS have collagen which acts more like “chewing gum”. Research shows that EDS may affect 1 in 5,000 and the support group EDS Awareness Ireland estimate there are at least 1,260 people affected. However, awareness of EDS is low and many struggle to get a diagnosis.
“This has certainly been the case for my daughter Rebecca,” said Rachel. “Early on we noticed that she was having difficulties with her walking and balance. At two years of age Rebecca was taken to the public health nurse with problems with her feet (constantly tripping, struggling to walk long distances) but nothing came of those investigations. There were numerous referrals and appointments with different specialists but again these were all dead ends and nothing got to the root of her problems. It was only when I took her myself to the chiropractor to look at her gait that they suspected there was something more serious affecting her walking and balance. They advised a referral to the community medical officer who secured a referral to the local HSE physiotherapist.
At the physiotherapist he noticed that Rebecca was hypotonic (floppy joints) but there then followed months of physiotherapist sessions with little improvement before he recommended she be seen by a local paediatrician. At her first appointment with Dr Shana’a her condition was recognised and Rebecca was referred to a rheumatologist in Crumlin by this stage she was 3½ years of age.
“When seen at Crumlin Rebecca received her official diagnosis of EDS. This process had taken 18 months due simply to the lack of awareness among healthcare professionals about the syndrome. Although we were relived to have an accurate diagnosis and explanation for her symptoms we were to be disappointed in the post-diagnosis follow up.
Rachel said they were disappointed by the lack of clear information and access to a treatment programme for Rebecca. Even after diagnosis there has been no standard treatment option provided to her, nor is there a centre with the appropriate knowledge to work with individuals with EDS. Patients are referred back to local healthcare professionals many of whom haven’t treated EDS before and aren’t provided with the necessary information, Rachel described her experience.
The lack of a centre for EDS treatment means that there is great disparity in how individuals can manage their condition. Because of this the role of the support group EDS Awareness Ireland has been essential in providing support but also the knowledge and contacts to help develop a treatment plan for Rebecca working with her healthcare professionals.
EDS Awareness Ireland was formed in 2011 and can be contacted via their facebook page EDS Awareness Ireland or email firstname.lastname@example.org. They hold regular meetings in Cork, Dublin, Belfast and Limerick each month and will be holding their second conference in Cork in March.
“For myself the main impact of Rebecca’s EDS is the time it takes to advocate for Rebecca, manage her programme of treatments, research aspects of her condition so that I am adequately informed when going to appointments. I’ve recently petitioned for Rebecca to attend a pain management clinic in Temple Street, Dublin where she will be seen by a consultant rheumatologist and specialist physiotherapist on a regular basis to help manage her pain.
We’re fortunate that the early diagnosis and our relationship with her future school has allowed us to make plans for her attendance later this year such as a special chair to fit the tables at school and regular movement breaks recommended by her physiotherapist. Now that we’ve been able to see the steps that can be taken to help Rebecca manage her condition I’d like to be able to confirm whether my other two children are affected and a simple genetic test is possible to do this. However, despite the test being carried out in May 2013 the results of that test are still not known and we’ve been told that it could take up to a year to come back.”
Said Rachel: “Our experience with Rebecca’s EDS has highlighted the benefit of early diagnosis but the difficulties we’ve had in getting a diagnosis have led us to work with the EDS Awareness Ireland support group to campaign for increased awareness of EDS. We’d like to see consistent diagnosis for individuals with EDS and a universal standard of treatment for individuals with improved follow up care once diagnosed and more support.”
Some symptoms of EDS include loose/unstable joints; joint pain; early onset of osteoarthritis; soft velvet-like skin; fragile skin that tears or bruises easily; severe scarring; slow and poor wound healing. Less common symptoms can include arterial/intestinal/uterine fragility or rupture; Scoliosis at birth; mitral valve prolapse; and gum disease.