The Journey of a 40 Year Old with XXYY  Isobel & Peter Hindle
Life Before Stephen – <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>My first wife, Jan, was diagnosed with early and rapid on-set Alzheimer’s disease in the early summer of 2006; 3 years after we had retired. She was 60; we had been married 38 years and had had a wonderful life together. Three years later she no longer recognised our son and this incredibly quiet, peaceful woman was so violent, physically and verbally, towards just about everyone except me that she was in a psychiatric hospital for 6 months. The doctors and nurses were desperate to avoid placing her in a long-term ward for those with behavioural problems but that seemed to be the only option until I found a care home that was adequately staffed and prepared to take her in on a trial basis. By this time she knew nothing and no one.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>Isobel and I met towards the end of 2010 and, in modern parlance, we became an item three months or so later. Let me tell you, “at our age you don’t let the grass grow under your feet or it will soon be growing over your head”.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>Until Jan’s illness I had had a straight-forward life. Exciting work; moving home around the world every couple of years or so; lots of business responsibility. All these things, yes; but essentially straight-forward.

Stephen in My Life – <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>I now knew how tough life could be; how demanding it is to care for someone over months and years; how mental illness in a loved one makes huge demands on your own mental resources. So it had to be clear both to me and to Isobel that our coming together included Stephen “for better or worse”. He was and always will be a central part of the deal.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>She and I had to understand and believe that. So did our families. The only way we could be clear with each other as a larger family coming together was to talk about it openly. We also had to live it; every day from day one.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>Stephen can be great company and huge fun. He can also be frustrating, annoying and challenging. At least now we know why.

Our Medical & Care System – <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>But let me be clear. A significant part of the frustration, annoyance and challenge that Stephen presents is the frustration, annoyance and challenge of working with medics and social workers.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>Don’t misunderstand me. The NHS and our social care system together are vitally important and a wonderful creation. I saw that with Jan and I see it with Stephen. I have seen wonderful people working with both of them and doing outstanding jobs. I know something of what it takes to do what they do day in and day out; night in and night out. I have my own T-shirt but it is nowhere near as deserved as their’s is.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””> A Fatal Flaw <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>However, there is a fatal flaw in the systems – I saw it with Jan; I see it in spades with Stephen. Our General Practitioners are not the right people to be co-ordinating the care of people with complex medical needs. Equally they are not the ones to be co-ordinating the care of people with rare conditions. They have neither the time nor the expertise.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>We have provided GPs, Care co-ordinators, even consultants, with published papers, extracts and summaries. They rarely read them. We have talked with them. It goes in one ear and out of the other. I don’t blame them. They are swamped with routine work.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>Don’t think this is a problem unique to the UK. It’s not. I have friends who are very senior Doctors, Consultants, Professors in the USA, Canada, Australia. They tell me it’s the same there.

Strategy for Rare Diseases <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>The NHS recognises this. In 2013 the policy document on rare diseases was published. The definition of a rare disease covers 48 XXYY.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>It is instructive to ask, “Why this strategy?” In other words, “What caused the department of health to set up the working group? “What needs fixing?”

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>The Ministerial forward to the document is clear. Nobody should be disadvantaged. As the document goes on to spell out, everyone deserves both <span “font-size:12.0pt;=”” line-height:150%;font-family:garamond;mso-ansi-language:en-us”=””>a correct diagnosis and coordinated care.

<span “font-size:12.0pt;line-height:150%;font-family:garamond;mso-ansi-language:=”” en-us”=””>So what is it hoped will be achieved by implementing the strategy? Again the report is crystal clear: Improvement across the whole ‘patient journey’. From a patient’s first contact with the NHS through to reaching a diagnosis and onto managing their condition and on-going care. For our sons that means every day from birth to death.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>How will this be done? Again clarity: the sharing of information, data, knowledge and best practice in treatment. Specialist clinical centres will bring together multidisciplinary teams of health and social care experts to manage patient care and local resources effectively.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>The strategy stresses the importance of “Experts”. These could be GPs in certain circumstances but generally this cannot be the case – by definition they are generalists, not experts in a particular rare disease including a rare chromosome disorder like 48 XXYY. There is also a stress on co-ordinated care.

<span “font-size:12.0pt;=”” line-height:150%;font-family:garamond”=””>When will all this happen? The NHS says by 2020. We must keep pressing for this to happen. Our experience is that most professions do not even know the strategy exists.

Closing Summary – <span “font-size:12.0pt;line-height:150%;font-family:garamond;mso-ansi-language:=”” en-us”=””>As I have said to Stephen in more than one of our heart to heart conversations, having the problems he has is grossly unfair and I wish it weren’t so. You may want to put that in to stronger language. But things are what they are and we have to do our best as parents and as society. Our best today is far better than it was for Isobel, her late husband and the child Stephen; and in that we rejoice.

<span “font-size:12.0pt;line-height:150%;font-family:garamond;mso-ansi-language:=”” en-us”=””>But it could be so much better, even with what the sciences of medicine and social care know today. And if it were better society would be able to put more energy and resource into learning more and doing better still. Far too much of our energy is being spent desperately trying to get professionals to realise what our sons and we have to deal with often on an hourly if not a minute by minute basis.

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