Caregivers of Rare Diseases

Being a caregiver of a loved one is far from an easy task, and is probably the last thing anyone thinks of when young and falling in love. Suddenly the life you had mapped out is abruptly thrown off route and extensive changes have to be made on an emotional and physical level.

Being a caregiver of a loved one is far from an easy task, and is probably the last thing anyone thinks of when young and falling in love. Suddenly the life you had mapped out is abruptly thrown off route and extensive changes have to be made on an emotional and physical level. Acceptance from both parties of the new situation, no matter how bad, is imperative. Working together as a team, good communication skills, encouraging and supporting each other makes life far easier, but in reality not all couples are able to adjust and walk this path. The situation is compounded further when a caregiver is looking after someone with a rare disease.

Living with a well known common disease; I do not for one moment, mean to make light of, nor detract from the horrendous trials and tribulations both patient and caregiver find themselves enveloped in. However the ramifications are tenfold when dealing with a rare disease, and like a restaurant that is "self service" a patient and caregiver end up researching and finding out the little reliable information available to educate and help themselves. Imagine for one moment, the isolation felt, caring for someone you love who suffers from a rare disease, a serious illness that no one seems to have heard of. The worry and burden not to mention immense frustration at few resources available can bear a heavy load. One's family doctor often has no experience with a specific rare disorder and is therefore inept at handling such a challenge. With few doctors who specialise in particular rare diseases, one often one has to journey far to seek good up to date advice or possible treatments.

Dealing with diagnosis of a rare disease from a caregiver's perspective is quiet different as by the very definition of being an uncommon illness, little information is available, doctors specialising in a particular disease may be few and far between, medications are either non existent or extremely expensive and new with little known about long term side effects.

I'm quite sure any caregiver looking after someone suffering a rare disease is sick and tired of having to repeatedly explain to all and sundry about their specific case. It is particularly worrying entering an emergency room where one is not known, and the insecure feeling of staff unfamiliar with the rare disease you live and deal with daily. In emergency cases, where time is of the essence, wasting precious moments explaining, literally giving a mini lecture and educating doctors and nurses, when you just want them to quickly get on and help your loved one ease their suffering, is an exasperating experience to put it mildly.

The other monumental problem which is hard to get around despite growing awareness, is the ability to seek out others who are in the same boat, due to doctor patient confidentiality, simply finding others living with the identical rare disease is virtually impossible. Therefore it stands to reason why there are few support groups for what essentially is a small percentage of the population. Attending support groups isn't for everyone, but those who feel the undeniable benefits of talking with others in similar situations, whether a patient or caregiver is without doubt highly beneficial for both parties.

My husband takes the health situation in his stride, and has an unusually healthy mental attitude in tackling any problem that befalls us. It is often said that behind every great man, stands a great woman. I'm a very lucky woman and don't for one moment take for granted having a great man standing right by my side, whose patience, unwavering loyalty and love continue to amaze me. I wouldn't be where I am today without my dear husband's continual support and encouragement. In a sense I am married to Gaucher (a rare genetic disease) and Parkinson's (a common disease) but what I think is particularly rare, apart from suffering these two diseases, of which there are less than 200 known cases worldwide, is that I'm married to a precious rare gem of a man.

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