Diagnosis
Alia wanted me to write her story from a parents perspective we thought it might help to share the story of how Alia was diagnosed, as she was born perfectly healthy and had no health issues to deal with whatsoever.
The Beginning
When Alia was younger we did notice things like balance was never her strong point at play parks. She'd struggle to balance on a 1 meter wide spirit level which we always through was odd, but didn't read much into it at the time. Trying to play on the beams, or riding a bike was extremely frustrating. as she would often not get enough speed up due to muscle fatigue and end up falling into bushes and nettles! She also lagged a little behind when playing with friends or her cousins, for example in the woods near my sister’s home, all the girls would be running about on a dog walk, chasing through the woods and acting like kids do at this age, Alia would get tired a lot faster than the others and looking back now it's easy to see the signs, but at the time we just thought that all kids are different and develop at different speeds.
Testing
Alia also had low blood iron for a while which the doctors said could be the reason for the tiredness, so she was taking iron drops and gummies for about 6 months, but it didn't seem to change anything drastically. My sister being a child nurse did mention to me at one point that Alia did seem tired, and didn’t seem to be thriving as expected, i.e. in growing and charging about, she did seem more comfortable chilling out on the sofa and taking herself away from the activities at the age of around 8 years old,
relax more with the adults, she had also started to have a tremor in her hands but only minor at this point.
Eyes
The next sign was ptosis of the eye lid, it was just one eye lid at first, and the doctors again dismissed this as normal, and it would most likely lift on its own, and reassured us that this was not an issue when she was older, the tremor they said was due to low iron.
Wanting a second opinion on the eye lid we ended up taking her to a optician who looked very puzzled when he looked at the back of her eyes. He started to cause me alarm when he proceeded to do some scans and sat me down to explain that Alia had pigmentation, black sandy speckles in the back of her eye on the light collecting layers. He said this was the first time he had ever seen this, and it is usually associated with a blindness condition called Retinitis Pigmentosa, the dark spots gather
to the point that they block the light, and it creates tunnel vision and eventually blindness!
As to be expected. I was in total shock, called my wife and hustled Alia right away to another optician for another opinion. After begging another optician, for an immediate eye exam and seeing my worry, he took her into the testing room and confirmed the same. However, he was puzzled as the amount of pigmentation was quite vast. However her vision was almost 20/20 and her peripheral vision was normal. This other optician said he had only ever seen this once before and it is EXTREMELY unusual, never seen it or heard about it on a person who could still see as well as Alia appeared to see. Again, we went back to the doctor and asked for advice on all the above and again we were told to stop worrying as her vision was fine.
After insisting the doctors investigate; they sent her for an eye test at the hospital, where they fitted her with what can only be described as a pasta strainer wired up to the national grid, she looked like a cross between that geeky chap Lewis off Ghost Busters with all the wires coming off his head and Medusa! Nothing unusual was found apart from the pigmentation but no vision issues. The doctors were still confused but the case was closed as vision was good.
Figuring it out ourself
Not willing to accept this, we threw ourselves into figuring this out ourselves, I went to the hospital and paid for Alias medical records to be printed out so I could take them home, and start going through the more detailed information on her blood tests, and the wording they used for her new issues. After some time and researching it on the internet it came up with two possible conditions, Kearns Sayer Syndrome or Myasthenia Gravis. Both of these had the eye pigmentation and most of her symptoms, but it was the KSS that seemed to fit the bill.
Again, we contacted our doctor and this time I was met with a sharp response, she asked me to stop diagnosing my daughter, I needed to stop researching, and leave it to the professionals...........
Still not happy at this point we then drafted a letter to a man I will always be grateful to, a professor up in a mitochondrial research lab in Newcastle called 'Professor Bobby
Mcfarland', I sent all the information we had to him and after a week or so he responded that he thought KSS could well be the issue but not to worry. He send a letter to take to our doctor which informed them of what he suspected might be the issue and suggested a heart exam immediately, a muscle biopsy and some brain fluid.
Diagnosis
At this point things started moving faster, as they had an idea of what it might be. They held off giving us the results until after Christmas they called us in at the start of January. The last appointment of the day then hit us with the news. She was diagnosed with KSS, and Mitochondrial DNA Deletion. My wife and I just looked at each other, and I asked that stupid question of what kind of time scale are we looking at? The doctor responded that Alia would have between 4 and 6 years at best, but they vary as it depends on organ involvement and at what stage / condition they were in. We were told that we were LUCKY that we still had time as many people don’t get diagnosed for years and years until end stage.
I didn’t take it well, i was absolutely devastated, i remember my world going black, and feeling like my soul just died there and then, it was horrific, the worst day of my entire life, we got to the car and just broke down in tears, my wife seemed to have a delayed fuse and it hit her a few hours later, our lives were about to change drastically, especially Alias, We couldn’t accept the information and had nowhere to turn, no idea where to start, no counselling no nothing, just felt we had to get on with it. I think writing this for other parents out there may be useful, as we know as parents how much we love our children, how news like this can tear your heart out (and how you can go down some very dark places, and trust me we went there for a while). This is a good point to thank our friends and family for their support during this as without them it would have been 10x harder to push through, and get back on track. You also learn to make the most of things NOW and not fall into the victim trap, feel sorry for yourself (that goes for us and Alia) this diagnosis isn’t going to change so you either make the most of the time and health you have or you sit about and give up. We decided early on that we were going to keep life as normal as possible, do all the things we could do, have fun, be positive, and not dwell on the negativity as it just takes over your mind and body, and Alia has maintained that attitude, but she's gone to a whole other level which we never expected.
Change and Achievements
We moved house to be closer to family, and better facilities for Alia, We moved jobs and eventually found help with sorting her out in school to try and future proof her life. However, its wasn’t easy hence this website to try and save people time and encourage others to not give up. I will however put a positive spin on this now if anyone is still reading.
My amazing wife and I decided that accepting all this news wasn’t the route we were going to take as research is out there, medications for certain conditions that are natural are out there, there are diet changes that can put less stress on the body, just try different things (within reason) we immediately started researching papers, tests, diets, exercise, lifestyle choices and anything else that might help as there is no cure and you just have to manage the condition as best you can. So that’s what we did, Alia has been an absolute legend when it comes to not giving up, she simply does not accept that this condition holds her back, she has joined a gym, She takes all the supplements in her website, she’s positive, she insisted she stay in mainstream school, did well in her GCSE’s then went to college, then did an internship whilst working within the NHS in the Dementia ward helping others, she's way more proactive and motivated than almost all the able bodied people I know!
Alia has a part time job now and is an absolute inspiration to us. She takes the negative news and boxes it, and responds with, “ I can’t change it, no point worrying about it” I wish I had her mental strength sometimes. Oh and for the doctor who said 4-6 years when she was 8, well she’s 19 in a few weeks, and she’s working hard on planning her 21st birthday and her 40th. On the plus side some negative news has improved a lot since taking some new mediation and ramping up her exercise, eating more of the foods she has suggested. So to wrap up, we are so proud of her for doing what she does, she’s working hard, she wanted to do this website to help others, inspire and show that you don’t have to play by their rules. Alia you are our hero, you’re an amazing human being and the strongest person I’ve ever met we love you to the moon and back.