What is the Psychological Impact of Living with a Rare Disease?
Working as a professional psychiatrist, and being a Plasminogen Deficiency patient herself, Dr. Sarah Bein is the right person to explain how difficult it can be to deal with this rare disease.
My name is Dr. Sarah Bein and i'm a psychiatrist, so i'm very familiar with plasminogen deficiency as i myself have been a plasminogen deficiency patient. So, with any chronic illness it's so important to take into account the emotional and psychological effects of that illness.
So, with plasminogen deficiency one of the main things to think about is how these patients feel to be different from other kids. As you can image these kids, these patients - they feel different from other people but oftentimes they look different too and especially with plasminogen deficiency there can be teasing and other kids can be making fun of you and we all know that can lead to social isolation, depression, anxiety, feelings of low self esteem and insecurity. I can be a very traumatic thing to be picked on for something that is not under your control.
Another way that patients can feel different with this condition is you know because it is a chronic illness oftentimes to remove these lesions patients are undergoing near constant procedures and surgeries to remove these lesions and so their life is very different from that of a child who doesn't have this condition. They're often wondering when their next surgery's going to need to be, when their next procedure is. They're spending you know, sometimes everyday at doctors offices and that can just really make you feel very different than someone else who doesn't have to worry about those things and that can just be very stressful. Not to mention the medical trauma of repeated procedures.
Another thing to think about is how it feels to live with a very very very rare condition and oftentimes with plasminogen deficiency, patients who are presenting to doctors, that's the first time a physician has seen a case of plasminogen deficiency and may not even really know what they're looking at, how to treat it and certainly that patient is going to be the first patient in that community and that can be a very difficult, you know stressful situation.
So, plasminogen deficiency can very much affect patient's relatives and friends. If you think about anyone going through a chronic illness i think it's very difficult to think for family and friends for that matter to watch someone you love struggling, to watch someone you love suffer with something that is beyond your control and very much with this condition, with plasminogen deficiency patients families and friends are really helpless to do anything.
Something i also think is important to touch on is when these patients have manifestations of the illness that make them look different than other people it's a factor, you know when you're with someone like that who's being teased or picked upon or people are staring, that can be a stressor for the whole family just to have a member of the family who's a little bit different and can be a difficult situation for other siblings, a difficult situation for friends and can just overall increase you know, worry and stress.
So, for recommendations for patients and families who suffer and struggle with plasminogen deficiency i would that the most important thing is to learn to be your own advocate. So to me what that looks like is getting to know absolutely everything you can about your condition. A lot of times in the landscape of a very rare disease patients must be their own advocate even with their own physician. But sometimes doctors really don't even know what they're looking at and don't know much about the condition. So we as patients must be our own advocates in charge of our care.
Another thing that i think is very important is to learn to develop your identity separate from being patient. This is very difficult, especially with a disease as complicated and as all emcompassing as plasminogen deficiency where really your day to day life can be consumed with your symptoms and doctors and procedures and one of the things i think that really helps is fostering close relationships with people who are supportive and loving and can just walk with you you know on your journey.
Also, trying to engage in hobbies and things that interest you just to help develop friendships and connections is very important and i would just say to the patients and families out there if there's something that you love pursue it and don't be afraid. I know that's a lot easier said than done but as someone who has personally walked this journey and was very fortunate to have a loving family and great friends with me, it's life altering when you can push yourself physically and just devote yourself to something that's going to make you feel as though your life is not completely taken over by an illness.
For me, when i look to the future i really just look forward to the hope that awaits people and just being able to tell them that hope is coming and be able to assure their parents that although their child is suffering,