The 30th September has been a date burned into my soul for months. Its genetic test result day!
As I get ready for the drive to the hospital, I am super relaxed. I have been focusing on mastering my own mind. Trying to control the spiral. Reading only positive books. Watching only positive media content. Looking to amazing individuals, such as Tom Bilyeu and Jay Shetty, to lift my negative mindset and get prepared.
In order to feel positive about my future; I needed to observe the individuals, that have overcome and made a success of their lives, having faced what I have too. They are out there. I am not alone.
Watching people like Steve Bate and Libby Clegg, push past their visual impairments and win Gold medals in the 2016 Paralympic Games, has been hugely inspirational. Finding out that the senior minister of my local church, has the exact same eye disease as I do. To watch him work and see him with his wife and children – you wouldn’t know it. I met him last weekend for the first time. We shook hands. His warmth and kindness radiated from him. He never broke eye contact, as we chatted briefly about nothing special. I went from rare to regular in a single handshake.
Originally my mum was going to look after my daughter, while my husband and I tackled the hospital. We didn’t know what the news would be. How I would react. What tests I would have or how many hours, we would have to spend waiting. At the last minute, she cancelled on me. I was irritated but not surprised. Having my girl with me would force me to be stronger anyway so here we are, all 3 of us, in the car at stupid o’clock in the morning.
Despite the Disney songs playing in the car, my positivity was starting to wane. The nausea, dry mouth and racing heart, were in full swing as I made my way through reception. The sight test, the dilation drops, the scans and photographs, were all very intense. The flashes and strobe effects that you are forced to look at, without moving or blinking are horrendous. At the end of each test or scan, you are placed in a different coloured chair, in a different waiting room. While I worked my way through the hoops, my husband and daughter made the best of it and played happily together. After a while, they made the obligatory stop at the gift shop, for colouring supplies. Early appointment never means early exit. Hours were passing, I felt like I would never leave.
Then my name was called. It was time to see the Professor.
He speaks quietly and very slowly. I find that unnerving. I get the feeling that good news and bad news, would be given in exactly the same tone. I picture Captain Raymond Holt, from Brooklyn NIne-Nine, as we get into the details of results.
My results indicate Recessive Retinitis Pigmentosa. However they now want to rule out Refsum Disease. Apparently there is a possibility I have that but further blood work is required. If its Refsum, this would have caused my RP and it can be controlled. If not, then I have Standard Recessive RP and nothing can be done. They are trying to piece together, why this happened to my genes and what specific mutation got passed on. They will send me another appointment, for these next results in 3 months. Regardless, they are 99.9% certain that my baby girl is in the clear. She may be a carrier but wont have the disease. Praise God. I really don’t care what happens to me. I just wanted my little girl to be free. My life has been a revolving door of hospital appointments and procedures, since I was born. As I watched her running towards the exit, my heart burst with happiness. She truly is the best of me, without the burdens I carry. This will not be her life.
So I still have RP. There is still nothing I can do about that. No supplements, diets or medical interventions available or recommended. Refsum Disease is hugely rare and I feel completely unlikely but the professionals want to test for it. If I have it, my sight loss can be controlled, reduced and even halted, with dietary changes. If I don’t, then my sight loss will progress at an unknown rate and extent. Not exactly comforting. However positive Refsum Disease seems, there are only 60 cases of this known worldwide, what are the chances of me being case 61? One in a million.
I told my Dad the news via text. There was no response. Apparently there was someone important in his office, at that moment so he could not answer. My mum called that evening. I advised her that my doctors, would like her to come in with me next time, for the genetic test. With her results, they are hoping to trace the faulty gene. It won’t change anything but it will provide vital information about the source. Before too long, she was busy chatting about her job and how busy she was. Also dropping into the conversation, that she had managed to get the day before and the day after today’s appointment off but not when I needed her. Shocking…not so much.
There is still a silence from my brother so I took the opportunity to ask if he had been told. I like to tell people face to face as I feel the gravitas of the situation warrants it. I have not seen him or heard from him so I assumed, he was still blissfully unaware, of his big sisters heartbreaking and life changing news.
“He knows. He knows about your car too”.
Oh…cool.
In my heart that was hard to hear but in my mind, those words were quickly processed and filed away in the cabinet marked Emotional Detachment. There is nothing new here and my pain is caused by me hoping for change. A change that will never come.
Today has been an emotional rollercoaster, with a mixed bag of results. Some wonderful highs, peeping out from the bleak mountains of inevitability.
Putting my daughter to bed tonight was beautiful. Watching her sleep, I quietly basked in the glory, of the fabulous news we heard for her. I have dreaded today. I have felt the weight of the world on my shoulders for months. Despite the result for me, this was the best case scenario I was hoping for. For now I can breathe. I seek peace in my music. Headphones in, as my little girl holds my hand as she sleeps, these lyrics fill my head.
Lost touch with my soul
I had no where to turn
I had no where to go
Lost sight of my dream,
Thought it would be the end of me
I thought I’d never make it through
I had no hope to hold on to,
I thought I would break
I didn’t know my own strength
And I crashed down, and I tumbled
But I did not crumble
I got through all the pain
I didn’t know my own strength
Survived my darkest hour
My faith kept me alive
I picked myself back up
Hold my head up high
I was not built to break
I didn’t know my own strength
Found hope in my heart,
I found the light to life
My way out the dark
Found all that I need
Here inside of me
I thought I’d never find my way
I thought I’d never lift that weight
I thought I would break
I didn’t know my own strength
And I crashed down, and I tumbled
But I did not crumble
I got through all the pain
I didn’t know my own strength
Survived my darkest hour
My faith kept me alive
I picked myself back up
Hold my head up high
I was not built to break
I didn’t know my own strength
There were so many times I
Wondered how I’d get through the night I Thought I took all I could take
I didn’t know my own strength
And I crashed down, and I tumbled
But I did not crumble
I got through all the pain
I didn’t know my own strength
Survived my darkest hour
My faith kept me alive
I picked myself back up
Hold my head up high
I was not built to break
I didn’t know my own strength
I was not built to break
I got to know my own strength
I Didn’t Know my Own Strength – Whitney Houston