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Points for Reflection

1.Thinking about how the diagnosis and prognosis was given, if you were the storyteller how would you have wanted the situation to be handled?

2. Sues condition has an autosomal dominant pattern of inheritance; her son also has nail-patella syndrome. According to the GeneReview GeneReviewat GeneTest, 12% of NPS cases arise from a newly occurring gene change. Consider the emotions that Sue and other family members might have experienced knowing that she was the first person in the family to have the condition.

Activities

As a healthcare practitioner, how can you use patient associations to support your practice and help you to develop competence? Using a condition relevant to your current role, identify a related patient organisation and gather up-to-date key facts and information from them on that condition. Create a brief summary sheet that you could refer to in the future.

Quotes

my life has turned out to be incredibly rewarding, not financially, but emotionally.

I was also told that I would likely be in a wheelchair by the age of 21 approximately. This was absolutely devastating news as I was just beginning my life as an adult with so many hopes and dreams.

I believe that the prognosis for me was made on guesswork from previous statistical evidence.

Further information

Nail Patella Syndrome UK website: http://www.npsuk.org/

GeneReview - Nail-Patella syndromeat GeneTest.


Location: The Stories
Transcript

You can download the full transcript here

Sues story: Discovering I had Nail Patella Syndrome
A newly arising gene change results in an autosomal dominant condition

How did you find out about the condition in your family?

I discovered I had Nail Patella Syndrome when I was 17 years of age and studying to be a nurse. I was in the ward when the charge nurse approached me and asked why I bit my nails and I told him that I have never done that. He was convinced that my lack of thumbnails was as a result of me biting them. All my other nails are brittle and weak and he then asked me if I would be interested in meeting a doctor who was a friend of his as he would be interested in hearing about this. I agreed and as a result of many tests, I was diagnosed within one week. Unfortunately, it was very shocking to hear that I had a rare genetic condition as no one else in my family displayed all the "abnormalities" that I had. It was discovered that I would likely be a spontaneous mutation as Nail Patella Syndrome is an autosomal dominant condition. This, in later years, proved to be the case.

How has it changed your life?

It has changed my life in many ways. I was forced to give up my nursing career as a result of the physical demands of the job. It was very difficult as nursing was all that I wanted to do. I then had a spell of trying out other types of work ranging from retail management to recruitment consultancy, but my health was not great and I was forced to give up. I became registered disabled at the age of 25 and that was slightly difficult to come to terms with. I had never expected my life would map out like this. However over the years I have realised that as a result of being registered disabled, it does not mean that I have nothing to offer. I have set up our registered charity NPS(UK) to help others with this condition and I organise conferences, fundraisers, publicity campaigns etc...In other words, my life has turned out to be incredibly rewarding, not financially, but emotionally.

What is your experience of the care you have had from the NHS? (either positive or negative)

I have to say that the experience with the NHS and any other medically related individual has not been too positive, but I also have to say that I believe that not to be their fault. There is such limited information readily available for Nail Patella Syndrome and thus it is very difficult for any doctor to treat a potential patient. There have been so many very negative stories, but I feel that my job is also to work with the medical profession and help to change this. The conferences are a great way of doing this as all the speakers are senior medical professionals who work extremely hard with us to help change the system for those who have been left in the dark. I also feel that providing information on our website should assist the medical profession as well as though who may live with this condition.

Could you tell us about one experience that you particularly remember? (either positive or negative)

I remember the day I was diagnosed. Due to the very limited information, I believe that the prognosis for me was made on guesswork from previous statistical evidence. I was told on that day that it would be likely for me to live to 33 + or - 18 years, I would not be able to have children due to the problems with my bones and joints and also my pelvic area was very small, I was also told that I would likely be in a wheelchair by the age of 21 approximately. This was absolutely devastating news as I was just beginning my life as an adult with so many hopes and dreams. I was always incredibly academic and my studies were always my main concern. Suddenly, it was all taken from me. Thankfully, this has proved to be false as I have two beautiful children. My daughter is 12 years of age and does not have NPS. My son is 8 and shares NPS with me. I am not in a wheelchair yet, even at 38! I do have many mobility problems and need a chairlift to get upstairs, but I keep myself very busy and do without aids as often as possible. I am not dead! I have people that I am in contact with now, who share this condition who are in their 70's.

How could we improve care for you and your family?

I think the most important thing that could be done, would be to help publicise what Nail Patella Syndrome is from good documented evidence that I have now. If people are able to read about what NPS is and look at what they need to do to help themselves and have a contact number for someone to talk to, it would help immensely. I would love to publicise leaflets and distribute them to renal clinics and ophthalmologists in the UK regarding Nail Patella Syndrome as these are two major areas of concern for us all. Our kidneys are affected and open angle glaucoma is a major concern for us.