The objective of Rare Disease Day is to raise awareness about rare diseases and their impact on patients’ lives.
Hi there, I’m Ally and this is my story……
In late October 2016 I had this pain, a sharp nagging pain in my left side by my ribs. I was due to travel for work and my partner made me go to doctors before I went, just in case.
Over the next week, quite quickly I had a variety of tests, including an x-ray. The X-ray had shown a ‘blob’ on my right lung so they needed to investigate further so I had an ultrasound. I remember being at work and my doctor rang me at around 8.15am. I wasn’t usually at work that early but we had a meeting at 8.30am!! I remember thinking why is the doctor calling me this early. She told me not to panic, but that she had received my ultrasound results and could I come in to see her as soon as possible.
I sat through the short meeting at work in a total haze. You instantly think the worst, I was worried about leaving work, I had so much to do, who do I tell? I left straight after that meeting and went straight to the doctors. I didn’t tell my partner, or my Mum or anyone. I remember driving on autopilot and thinking ‘C’mon Ally pull yourself together, this isn’t serious, you are healthy’.
The doctor informed me that they had found ‘lumps’ in my liver and spleen and I needed to have a CT scan.
The following Friday on November 25th 2016 I had a CT scan. I worked from home the rest of the day and tried not to think of all this going on. I was still struggling with the pain and I was so exhausted. By 4.30pm the doctor was ringing. I need to see you, could I come and visit you at home. At this point I felt a little panicked, what if it is something serious?
That evening she told me I had cancer.
The CT report said that they had found what they thought was a primary lump in the lung and spread to my other organs. That night will be etched in my memory always. Having to watch your partner, Mum, Sisters and family break down because of news you have given them and can’t control. I’m emotional even writing this!
What pursued over the following months was several biopsies (4 in fact) scans and tests and tablets and feeling absolutely rock bottom. I was turning 30 in the February and the day before my 30th birthday I had a spleen biopsy!! Nothing was going as I planned it! And all I thought about was getting through each day. I didn’t quite believe that this was me and all I cared about was my family hurting.
The good news was after all the biopsies and tests, they confirmed there was no evidence of cancer. But why do I have so much pain? Why am I so tired? Why do I have all these ‘lumps’?
In mid April, after further investigation and tests, I finally got diagnosed with a rare autoimmune disease called Sarcoidosis.
‘Sarcoidosis is a condition where lumps called granulomas develop at different sites within the body. These granuloma are made up of clusters of cells involved in inflammation. If many granuloma form in an organ, it can prevent that organ from working properly. Sarcoidosis can affect many different parts of the body. It often affects the lungs but can also affect the skin, eyes, joints, nervous system, heart and other body parts. Sarcoidosis is often misdiagnosed as something else and there is disagreement about how many people live with the condition. However we know that sarcoidosis is rare.’ ~https://sarcoidosisuk.org/information/about-sarcoidosis/
At age 30 I was diagnosed with a Rare Disease.
Being told you have a disease and condition that is not ‘fixable’ was hard. Being told that we just need to manage each day and try different pain management options was hard. Attending clinics in London and Oxford, having scans and tests to check my heart and lungs was hard.
But …. I get through each day and I fight it.
I am not the same person I was. I have grown mentally stronger but I have also been through the biggest challenge yet – dealing with my health and something I am not in control of. I can’t do the same things I use to do, I don’t have the same life I use to. It affects my ability to work, exercise and sleep. It is debilitating and every day I have to choose to get up and fight it. Each day I have pain and fatigue and I have to use alternate ways of coping and managing such as meditation, relaxation techniques etc. It also affects my loved ones, the people around me who watch helplessly unable to control what’s happening or the fact I’m hurting.
I hope in 3 years it will disappear….. it’s a possibility, there is no known cure like there is no known cause.
I look at the future now, not as I thought it was once planned but with gratitude in my heart for today and for each day, with so much love for family, friends and my partner who have been with me every step of the way and I’m thankful for the opportunities to have met some amazing people along this journey.
I also plan to do a sponsored run or bike ride so I can raise money towards Rare disease research as it is absolutely crucial to patients, families and our health service. People like me. Rare disease research relies on donations, charities and day’s like today where we can together raise the awareness of rare diseases. Most rare diseases don’t have a known cure or a cause (in some cases) and this needs to change.
If you have read this far I thank you! I hope by sharing my story it can give hope and inspiration to others who are fighting a rare disease. I have found putting my story on paper emotional but also therapeutic!
For more information about rare diseases go here – https://www.rarediseaseday.org/article/what-is-a-rare-disease
For more information about my disease please go here – https://sarcoidosisuk.org/information/about-sarcoidosis/
With love and gratitude,