Remember The Girls : Day One

I’m participating in a social media challenge started by Remember The Girls this week! The aim is to raise awareness of X-linked genetic disorders and specifically to talk about our own experiences of having an X-linked disorder as a woman. I will post 7 blogs throughout this week, with the below themes.

Day One: My X-linked Disease Story

I was very poorly as a child with Henoch-Schonlein Purpura. This is much more known about now but back 33 years ago it was a very different story. My case was left untreated for a long time as the hospital didn’t know what was happening with me or how to treat it, at one stage thinking I had a tropical disease. To cut a long story short, I suffered through a fair bit of kidney damage in my childhood and was left with symptoms into adulthood. I had other things going on with my physical health – P.O.T.S and Hashimoto’s disease misdiagnosed as anxiety, Ehlers Danlos Syndrome causing widespread pain and joint instability. The overall layman’s description of me being extremely bendy with damaged collagen, autoimmune issues and weird kidneys.

All that time, Alport Syndrome was hidden within me. No one had a clue.

I remember the day I thought something else might be wrong. I was having my youngest son Sullivan, then aged 7, tested for a bladder infection up at the GP. He had an increasing need to go to the toilet which wasn’t normal for him. He had some slight pain but mainly it was the increase in times visiting the toilet that made me book an appointment. I mentioned to the GP that I had also been struggling with some pee symptoms for a while and she decided to dip my urine too. We both had +4 bloods which was a surprise to her but hopefully nothing a course of antibiotics wouldn’t fix for both of us.

Sullivan’s symptoms continued through and past the antibiotic course. Mine drifted in and out as I was so used to over my adulthood. Soon, Sullivan was going to the toilet 25+ times a day. We went back to the GP who dipped his urine to find +4 blood and then referred us to his paediatrician. Upon seeing the paediatrician few months later, we were told it was probably behavioural with no medical issues. They dipped his urine, found 4+ blood and were given a pack to take home. We tracked his fluid intake and output over two weeks with the pack and went back to the paediatrician for a follow up. Both were fine but again, after dipping urine, he was still sitting at +4 blood. This was the first time I saw real concern in the paediatrician and it was a scary experience. I had also asked to be referred to genetics unrelated at one of the previous meetings as I was concerned Sullivan had similar collagen issues to me, so the paediatrician decided to refer us up to Guy’s Hospital Genetics team to talk everything over.

Our genetics appointment came through a few months later, not too long after Christmas 2018. They were extremely thorough with their questions and examinations. The Doctor we saw explained after chatting with us for nearly an hour, he had a hunch he needed to investigate with his head of department. He explained it was rare and that he’d not seen it in 16 years of clinic appointments but he couldn’t shake the need to check something out. He mentioned briefly ‘collagen 4’ but didn’t speak of any syndrome, disease or go into detail, as that would be rare and a worse case possibility from our symptoms. They took pretty extensive bloods from Sullivan… and we waited.

Those 9 weeks of waiting were awful.

I, of course, Googled collagen 4 diseases and syndromes and came across Alport Syndrome. People say not to do this as you’ll terrify yourself or convince yourself you have something you don’t. I am quite medically savvy for someone who is only a patient. I take pride in research, reading medical papers and trying to educate myself as much as possible about all of my issues and other people’s too. Knowledge is key to me and I knew I wanted to know every possible thing they could come back to me with, when the results were in.

On a freezing cold Friday evening in February, around 7pm, I was called by the genetics team who gently and with kind support informed me that my little boy, my darling, who has already been through most than anyone will ever know, did have that ‘worst case’ thing I found through Google… Alport Syndrome. It was a massive shock. It would have been even worse had it come out of the blue. I can’t imagine receiving that kind of information without any knowledge of Alport Syndrome’s existence or what it could entail for my son. Having to take in what I did over the phone was traumatic enough.

This leads in to my own personal journey, as myself and my oldest son were then brought in for testing to see if Sullivan was the first case in our family or whether it was a genetic disorder. Another wait followed, this time 10 weeks and yes, I was diagnosed along with my eldest son Thom, too. This came around the time of Thom’s GCSE exams. Being diagnosed with a life-changing syndrome at any point is a mind bender, let alone when you’re a young lad entering one of the most pressured and stressed times of your teens.

Through the tests, we found we had an X-linked disorder, meaning I had passed this syndrome down to both my sons with my X chromosome. I have two X chromosomes to pass over. As the boys get one X from me (and one Y from their dad), I had a 50/50 chance of giving them the affected X chromosome from my two X’s. Unfortunately both times, the boys got the affected X chromosome and that’s how the syndrome is passed genetically. Where were you, good X?! Talk about letting the side down!

Jokes aside, dealing with the guilt of passing on a progressive syndrome which will more than likely lead to hearing loss, eye issues and loss of kidney function is immeasurable. Still to this day it keeps me up some nights. I am of course concerned about my own health, too. What a triple whammy that was out of nowhere. We are still learning to live with our new normal. We have a fantastic medical team at Evelina Children’s hospital and Guy’s hospital. The paediatrician and GP have also been great since diagnosis.

Who knows what the future will bring? We don’t but we’re definitely making the most of our present.

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