Congenital rubella syndrome: ‘My twin sister and I have endured a shocking journey’
‘I have CRS and advocate to stem this awful condition through our vaccination programme’
Sisters Margaret and Ann Kennedy at home in Greystones, Co Wicklow. Photograph: Nick Bradshaw for The Irish Times
As a woman with congenital rubella syndrome, I would like to discuss vaccinations and speak from experience. My twin sister and I share this same birth experience, and we also have the same medical issues which have caused much confusion over the years.
Congenital rubella syndrome (CRS) is an illness in infants that results from maternal infection with rubella virus during pregnancy. A child can be born with severe hearing loss and/or visual impairment, congenital cataracts, heart defects, and gradually develop a myriad of other significant challenges.
Researching this article, I contacted The Anne Sullivan Foundation for Deaf Blind People and spoke with an engaging staff member at this residential centre in south Co Dublin. She informed me they care for 12 adults, aged between 21 and late 40s. Ten are deaf-blind with a range of learning disabilities, known to be the consequences of CRS. The foundation is supporting more than 145 children in the community, though it is unclear how many have CRS.
The topic of vaccination is “hot” in the media. The worry of whether to vaccinate children and babies is great for parents.
I have CRS and advocate to stem this awful condition by having a full 100 per cent rate of cover through our vaccination programme, sooner rather than later. In February, 2010, The Irish Times ran my story in the health supplement. I had already begun to show worrying presentations of Parkinsonism/dystonia, muscle wasting, chronic fatigue and had developed a raft of autoimmune diseases. Doctors in Ireland were mystified, and many held the thesis: If we do not know, then it is not happening or doesn’t exist.
Others came to the conclusion the degenerative disease/process was caused by the rubella virus and having CRS. This has since been discounted, but, for many years now, we have had a horrible time, including no investigation as to why we were so ill in the first place.
I was involved in a process which has landed me in a powered wheelchair. We are 65 years of age now and still failing to get a clear pathway of care. Genetic testing has only begun for us in Ireland, through a neurologist who has at last taken note that we need to know what is wrong, and why.
It is not only about CRS!
A lack of knowledge worldwide on the effects of the rubella virus causes confusion when you are known to have CRS and then become very unwell. It can all be lumped in with that particular diagnosis. This is a dangerous judgment call for the patient and can lead to harm, neglect and lack of care, no therapies and no treatments.
It meant no one looked at other causes for us twins until 2014 in the UK. No one looked at all in Ireland until 2018.
Staff at The Anne Sullivan Foundation, say most of their adults are very healthy. This too can be seen on many of the forums where adults affected by congenital rubella syndrome gather to help each other. Yet, there are always some individuals suffering enormously with complexities due to CRS. Prof Pat Tookey (retired) of the Imperial College, London, spent a lifetime studying the virus, and children with CRS, and has never considered our presentation as part of the usual cohort of those affected with CRS.
In 2008, I met Dr Jude Nicholas at a Sense Scotland conference in Crewe. Dr Nicholas, from Norway, was clinical neuropsychologist at Statped Vest resource centre and at Haukeland University Hospital in Bergen. We talked about deafness and personality. According to Prof Nicholas, deafness in CRS children and adults is distinctly different from those deafened from other diseases in “personality terms”. Autism rates are relatively high in children born with CRS.
Soon after The Irish Times ran its initial article, I was diagnosed with Asperger syndrome and this brought enormous relief.
Last year, The World Health Organisation had this to say: “Outbreaks continue to cause unnecessary suffering and loss of life, and routine immunisation coverage is decreasing. It is unacceptable that one in every 15 children still does not receive the first vaccination dose against measles and rubella on time. We will eliminate these diseases from our region, but need to be ready to walk the hardest last mile.”
The lived experience of those affected by CRS is seldom heard in any debate.
Adults can go on to develop a myriad of conditions and complications, both physically and psychologically. The degree of disease and defects differs widely in children and adults. But qualification must be made – further disease presentations in CRS adults may not be related to CRS. It may be something entirely different, new or even rare (we are now considered in this bracket, “rare”). Also, if you are deaf because of CRS, it is not the same as being deaf from another cause.
That is why it is all about the need for CRS to be fully understood.
Confusion and apathy enters the fray with lack of action in “rare diseases” cases. Adults become particularly neglected in healthcare simply because presenting with multiples is difficult and expensive to manage. Our health system presents an exhausting challenge for older individuals, who have a crossover of age (over 65 years), disability, “rare disease” and CRS.
It is a minefield.
Rare diseases (CRS would be considered a rare disease) are not considered well and the Rare Disease Plan launched in 2014 has not been implemented in Ireland.
Although CRS is a rare disease, it does not come under the umbrella of this Rare Disease Plan.
We, as patients with a “rare disease”, come under the Rare Disease Plan. But our CRS does not! We are “rare”, but not because of our CRS.
For the first time in more than 10 years, a consultant has drawn us into an Irish hospital to help us find causes for our decline. Dismissal has been the order of the day until this year.
Since 2010, there has been significant deterioration in our health. Many consultants make recommendations for ongoing therapies and supports which have not been translated into any action to date.
We do come under the Rare Disease Plan. Our condition is not from having CRS. Struggles are personal, intense and getting heard is impossible.
We are currently in discussion with two expert “rare diseases programmes” in the US and they show a great interest in getting us over. We make good research material as identical twins. Recommendations regarding treatment and care are very necessary, but most of all we badly need to know why we are so ill. We are now fighting to get to the USA. It is now our urgent priority.
My twin sister and I have endured such a shocking journey that we have been recently diagnosed with PTSD.
We are seen as very rare in the UK. We could be the only pair in the world (according to a UK consultant) with our complex mix of a Parkinsonism/dystonic movement disorder, muscle myopathy, further complicated with auto-immune diseases and severe-to-profound hearing loss and having the co-morbid condition CRS.
Lately, I was informed I had further deteriorated in gait and walking ability. The examiner said he could not determine prognosis because there is nothing to compare my twin and myself to. He has not seen this before in Ireland. No one has.
So what do we know of our physiology?
DNA analysis threw up multiple deletions in the mtDNA (DNA we acquire from our mothers). Mutations in genes have been discovered in us, yet these are so rare, whether they cause disease is not yet known.
Again, there is no other to compare with at present. Our muscle biopsies show decidedly dodgy muscle disease and are considered abnormal. The consultants were surprised to find pale central core-like areas on their examination of these muscle slivers. It is consistent with a muscle-wasting disease. Further sophisticated tests reveal we use a different pathway for energy and do not recover well from exercise. Even slight activity can cause a collapse. This forms the basis of an unknown metabolic dysfunction.
Living with this unknown disease is a lonely place to be.
I argue strongly that the need for vaccination is very important. CRS is a preventable disease. It carries a heavy disease burden on any person in an unstable world. We have unstable healthcare systems.
Please vaccinate against a recognised, devastating, preventable disease for children and adults.
Confusion around CRS – and if and when an individual gets sick or becomes further incapacitated – is alarming and compounds the whole issue, as happened in our case.
Doing something to prevent the horrendous circumstances of having CRS will also prevent misinformation of what CRS can cause and will prevent what has happened in our case. We have not been monitored but have great hopes that Cork University Hospital will consider this for the first time in Ireland. Action always seems difficult in Ireland.
I hope a meaningful discourse on rare diseases will empower parents to vaccinate rather than leave babies and newborns unprotected. Consequences result from cradle to the grave. Consequences last, long after parents shed their mortal coil.
I have to remain hopeful our luck will change and there will be action into pathways of care – and the diagnosis Ireland should have begun to investigate when we became so ill all those years ago. We can, though, be more hopeful that Ireland will achieve its target in its vaccination programme.
On a final note of encouragement, I had the good fortune of entering a vibrant, stimulating engagement with Dr Suzanne Cotter, specialist in public health medicine at the Health Protection Surveillance Centre. I recall it as a rollicking good chat and she is pleased to say Ireland is not doing too badly with its vaccination programme, as our last confirmed case of CRS was in 2004 and we have had none since.
It remains a notifiable disease.
This doesn’t let us off the hook because uptake on vaccination is not yet fully at 100 per cent and, until it is, Ireland will remain at risk. It will also need to be at this percentage for some time before we can declare any real, solid success.
Little chinks in any armour are chinks, which can be used by a resourceful virus.
Journeys need ending.