Saturday, May 28, 2022
LifestyleHealth and WellbeingSkin: The search for the TGFBR1 gene mutation

Skin: The search for the TGFBR1 gene mutation

Nearly one year on from what I thought was the end of my skin journey, an unexpected confirmation was given. I do in fact have the TGFBR1 gene mutation. My skin journey continues!

TGFBR1 Gene mutation

Well, I really didn’t think I would be typing another post about my skin condition. Nearly one year on and I find myself partially perplexed yet relieved. Regular readers of my blog will know I have gone through quite a horrendous time trying to figure out what is causing cancer-like lesions on my body. I’ve been as open as I can be throughout my whole skin journey, I’ve documented it, not just for the pleasure of some readers, but for the educational side of it too. Like many rare conditions the more information that is available, the better the understanding.

Throughout my journey, it was discovered that I may have a rare condition called Ferguson Smith Syndrome or more medically known as Multiple Self-healing Squamous Epitheliomas (MSSE). In basic terms, I get skin cancer lesions and then they miraculously heal themselves leaving no cancerous tissue behind. However, they do leave horrible scars. Do read my article on Ferguson Smith Syndrome, although quite in-depth it fully explains what my probable diagnosis is. The cause is a mutation within the TGFBR1 gene.

One year on

Let’s be honest, going through a year of consultations, biopsies, blood taking, prodding and poking takes its toll on you. As well as still not knowing what the cause or diagnosis of my condition is, I struggled mentally. I’d lost my dad to cancer and I was also going through all of this at the same time. I was also told that there may be a chance I can have genetic testing. To find the mutation within the TGFBR1 gene and receive confirmation. To then be told I can’t because I didn’t meet the criteria.

The rules around genomic testing within the NHS had recently changed and it is now impossible for the team to access testing of the specific gene in question. So it was an absolute impossibility to ever get the testing or confirmation of diagnosis. So as of 2021 my diagnosis was all based on a likely assumption that I had in fact got Ferguson Smith Syndrome.

I was told I would have to learn to live with it and that any more occurrences of cancerous lesions would have to go through the usual routes before they could be removed. As no confirmed diagnosis was given, there was no reason to act or treat the lesions with the urgency of the 2-week rule. However, I could have gone to a private geneticist to look for the mutated gene and if confirmed, it would have put me on a different pathway. Sadly I don’t have £3000 just sitting around doing nothing.

Confirmation of TGFBR1 gene mutation

Nearly one year after what I thought was the end of my skin journey, I received a letter from the NHS. I think it would it is a good assumption that the consultant who wrote the letter was just as surprised writing it, as I was reading it. It’s very light on detail, but it transpires that a lab in Leeds was actually able to analyse the TGFBR1 gene. My consultant did try everything he could, even ‘off protocol’ to try and get the genome testing, but just kept hitting ‘red tape’.

Protein Tgfbr1
Protein TGFBR1

The Lab in Leeds confirmed that I do indeed have a mutation within the TGFBR1 gene. The same mutation has been found in other people with Self-healing Squamous Epithliomas. Finally a confirmation of my diagnosis!

Mixed feelings

It is great that I have confirmation, it kind of puts my mind at rest, but I’m really confused. There are many questions to be asked when I next visit my consultant. I thought it was an absolute impossibility that genome testing could be done? Why has no one told anyone that a lab was actually following through with the genome analysis?

One thing that really frustrates me, and I’m sure once I have my consultation it will likely all become clear. But I could have spent £3000 on a private genetic test and had the results, to then be told the NHS, who couldn’t or wouldn’t do the test was doing it anyway!?

Going forward

Now that confirmation is given, it still doesn’t change anything as such, I know the condition isn’t curable, it’s entirely manageable, all be it, painful but manageable. I also know that there will be further testing needed, not just for myself but for other members of my family. Such as my children, my brothers and their children will likely be offered the same testing. It is an inheritable condition and has been known to skip, so to get a fuller picture, testing would be needed.

I am relieved I have confirmation of my diagnosis, although it was done in the most bizarre way and without notice. I’m also very perplexed. I’ve struggled with the initial outcome for nearly a year and then being told I actually do have the condition, is a strange feeling. I’m not really sure how to feel about it.

Let’s just take it all a step at a time. I will, however, continue to do my own research into Ferguson Smith Syndrome and will, of course, continue to document my journey.

To be continued…

4 COMMENTS

  1. A final diagnosis, even after a pretty clear suspicion for a while can be difficult to navigate; it definitely comes with conflicting and nuanced feelings (I recently received a confirmed diagnosis for something and also had the glad but upset response). It does, however, provide a path forward (once you figure out what that is — which took me a while). Wishing all the best as you work through all this!

  2. Wow, well that wasn’t an update I was expecting to read. Rather like you Damion, on reading it I have mixed feelings. Happy in that you now have answers and your suspicions ultimately confirmed. I guess you must have question as to what this ultimately means for your future. Sounds very much like a condition that can be managed, not cured.

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