In this blighted house: Rare Disease Patients are being let down in Ireland

Over 25 years ago myself and twin fell ill with a slowly progressive neuro-muscular degenerative disease. At First no doctor really 'cared' to hear our cries of "what's going on?".

searching for answers - alone

We were women, and this counts in the rejection of patients voices. WOMEN are 'hysterical', 'make things up', exaggerate'.

Male doctors (largely) ignored our presenting disease as probably 'psychosomatic' or 'nothing serious', only mild when we knew our bodies were failing.

At 40+ we found walking difficult, became hugely fatigued, we began to shake in our 50's, by 60 we were both using wheelchairs. with recognisable symptoms and diagnosis of Dystonia, Parkinsonism, muscle weakness and huge fatigue not yet understood.

Only by fighting, screaming, persisting did we get out of Ireland for more tests, yet this too 'went wrong'.

Delighted to go to a top UK specialist in a top UK neurological hospital in London, under the Irish E112 scheme where the Irish government pays for treatment abroad, we duly arrived for in-patient stay to find the 'top specialist' leaving the country for our whole in-patient stay!

He was not THERE! Tests were done. Things 'found' but he only came back, three weeks later, the day we departed home.

Nevertheless a muscle biopsy was done and defects found - muscle myopathy. Pale central cores (untypical) indicated a 'core myopathy' but no-one knew which one, or what myopathy and our Irish Neurologist didn't care to follow through further.

He didn't CARE.

5 years from these tests we still don't know what muscle myopathy we have - there are many. Some can be arrested, treated, slowed down, (not cured) and no-one wants to know - except us.

outside the Dail, Dublin, protesting health care - in crap HSE wheelchairs that created huge pain and problems.

We begged for more tests outside Ireland and we are again sent to UK via E112 this time to Newcastle.

Our Irish neurologist referred us for further 'neuro-muscular tests', the London specialists made a parallel referral for mitochondrial tests. We landed in a mitochondrial team for mito tests. Even though our Irish Consultant requested 'neuro-muscular' tests. We never got the 'neuro-muscular' tests.

We still don't know what muscle myopathy we have.

Neither our Irish Neurologist, nor the E112 scheme monitored what the UK specialists were doing and it was a disaster! London & UK took the Irish Kennedy twins for mitochondrial research that did NOT benefit us.

Yes, we discovered we had 'multiple deletions on our MtDna. We know we show evidence of Mitochondrial dysfunction. We know we do not 'make energy' the way 'normal' people do. We use a different metabolic pathway to create energy, found out doing a complex CPEX test.

Ann undergoes CPEX testing in Newcastle

Margaret undergoes CPEX testing in Newcastle

But we still have no idea why we show features of four distinct diseases: Parkinsonism, Dystonia, Muscle myopathy, Mitochondrial disease.

We still do not know what form of muscle myopathy we have. Even though a London, different neuro-muscular specialist we paid privately to see, said "not all tests, that could be done have been done".

The first London neurologist requested our Dublin Neurologist seek funding for him to do the WES testing : Whole Exome Sequencing. Highly sophisticated genetic tests. He did not.

He showed no interest whatsoever in advancing our diagnosis. Bar signing the E112 forms he did not keep a close watch on tests, tests results, nor did he communicate with the UK and keep himself, or us, informed of progress. He was a neurologist from hell.

The Dublin Neurologist failed to follow through on the second London Neurologists recommendation (3 years ago) to be re-admitted to London for the tests not done. We gave him the letter she wrote. We begged. we pleaded for the 'tests not done'.

NO. He had long since decided there was no point. 'No Cure - no point'.

Newcastle doctors persuaded us to sign up to the 100,000 genome project and told us this was our best chance of getting a genetic answer to our disease. The problem here...we were NOT eligible for the 100,000 genome project, we were not UK citizens.

But for 3 years we were told 'wait for the genome results', 'wait for the genome results'. But they would NEVER come, we were never ENTERED into it.

This we only found out this week.

But they did get our blood. Our DNA. Twins are valuable in genetic research. Very Valuable.

Yet Newcastle & the Irish neurologist told us to 'wait for genetic tests results' and meanwhile - the Irish neurologist refused all discussion, further tests, further admissions, further investigation.

The Irish neurologist didn't even know we were 'not entered' because he didn't bother to keep in the communications loop with either London or Newcastle.

In late 2017 he was requesting copies of all letters from the Newcastle Consultants because none were on our files! 4 years after our trip to Newcastle.

By this time neither of us were his patients. But he knew we were registering a complaint concerning his medical care of us.

So where are we? What's our status as patients with Rare Diseases in Ireland?

We are pariahs, persona non - gratia ...because we demand investigation, demand answers, want a diagnosis. Because too, we have uncovered medical chaos in our Irish and UK care. Utter chaos.

We have found out the Irish Dublin Hospitals have devised, without our knowledge our 'care pathway'.

They have met, to discuss us. They have jointly come up with a strategy of 'response to the Kennedy twins'.

How do we know this? A CEO of a top organisation spoke about us to someone in the hospitals group, he relayed back to us "are you aware the Irish Doctors have a different view of how to treat you"?

Yes, we've suspected this for a long time. We've suspected the brick wall we come up against when we seek further diagnostic tests meant a covert, 'plan of action' agreed by the HSE and Doctors - collusively.

UK doctors were/are willing to further investigate, have requested this, have requested further funding. Know the tests they want to do on us.

Irish doctors refuse.
Refuse to pursue our diagnosis which is our right under the Irish 'Rare Disease Plan'.
It is a collusive plan to passively euthanasia us.

The HSE appear to have covert 'killing' plans.

Only this week HIQA raised the issue of how disabled people were treated in the Cherry Orchard HSE residential unit for disabled people:

https://l.facebook.com/l.php?u=https%3A%2F%2Fwww.rte.ie%2Fnews%2Fireland%2F2018%2F0704%2F976202-hiqa%2F&h=AT3najwd-fmgYB2vdro5DScuxH6d1ZEKUJCg3WPDrR30ld0SF4EcL6tPoOsh9WR1vXwt5qTVM21-q5sW4H_4wKuRnCFh428IRzOxGl0WV-ft3UzHSCnW6HV8Hv0cmbudlHDccMPV1fp_XbMSd8ebQaTycgVIBpI

This residential place falls within the HSE CHO6 area we live in. The same HSE group that collusively discuss us with the hospitals group without us present.

In Clonskeagh the HIQA reports:

Inspectors examined three residents' files, which instructed that none of them was to be resuscitated.

They found that the process that led to this decision was unclear as no documentary evidence was available in relation to discussions with family members, apart from the statement that they had taken place.

There was also no evidence that the wishes of the residents concerned were respected in the process, even though inspectors were assured that all three of them would be able to participate in such a discussion.

This is exactly the same for us. We have a DNR note on our HSE files. We feel it, we know it.

It probably says: DO NOTHING. Offer nothing. Let them die. They are old (age 65) past their 'sell by date'. They are expensive.

Why do we 'know this'.

Under freedom of Information requests (FOI) we have been refused the HSE CHO6 managers files under a clause it would be too onerous a task for administrators. What do they not want us to see?

The CEO who told us the Irish Doctors view our care differently to UK doctors won't tell us who he was talking to, or what that 'plan' is. He has sealed his lips.

Does this not 'feel' like a HSE covert plan.

it does to us.

at 65 we do not 'count'. Our wishes are ignored.

We want further tests. We need a diagnosis. We will continue to fight. We want to go to Harvard - to the 'undiagnosed' research unit there. We will get there - somehow.