This is the 3rd article in my ‘Skin:’ series. After 12 months of hospital visits and consultations, blood was taken and sent for genetic testing to see if I have Ferguson Smith Syndrome. What were the results and where do I go from here?
This article contains images and content that some readers may find disturbing. The images should not be used for self-diagnosis and are only placed in this article to depict my own conditions.
The wait is nearly over
If you’ve been reading my articles within my skin: series, ‘Skin: My Journey’ and ‘Skin: Salvation‘ respectively, you’ll have read I’ve been through a fair ordeal. Back in November 2020, I was told, the best way forward would be to be put forward for genetic testing to determine a diagnosis of Ferguson Smith Syndrome. After many months of waiting, in March 2021 I was finally called in to discuss the genetic testing process and to get a more in-depth understanding of my family history with cancer. Nearly a year on from my initial consultations, I was starting to struggle mentally, with the loss of my Dad and the growing concern I had for these unknown lesions.
Ferguson Smith Syndrome (FSS)
To give a little information on Ferguson Smith Syndrome would probably be a bit of use right now, as further on, it will get a little technical, so it’s a good idea to understand what it is.
Ferguson Smith Syndrome, or to use its full medical term, Multiple Self-healing Squamous Epitheliomas (MSSE). Is a rare inherited skin condition characterised by the sudden appearance of recurrent skin cancers. They resemble differentiated Squamous Cell Carcinomas and Keratoacanthomas. Skin cancers that appear, cause all sorts of havoc with your skin, rupture then disappear after a few months to a year. Oh, and they leave a terrible pitted scar.
Although It is an inheritable condition, it is a none sex-specific inheritance, which basically means it could be passed to children not necessarily from mother, or father, but a mix of both, or one or the other.
There is no known cure for Ferguson Smith Syndrome, removal of the lesion is the only known treatment. There is very little knowledge of the condition and not many consultants have ever heard of it. From Studies, it was found that the gene that contributed to the condition was TGFBR1 with mutations.
During the discussions with the consultants, it was determined I was a good candidate for genome testing to find the TGFBR1 gene. However, there was a caveat to it. Due to the NHS changing the goalposts, the only way I could get tested would be to go down the route of full Genome profiling. The condition to that would be that to be eligible, you must test positive for a Thoracic Aortic Aneurism (TAA). Sounds like a lot of red tape to me, but the consultant said we can definitely go for it.
The search for the TGFBR1 gene
I’ll try not to get too technical here, but in order to find the TGFBR1 gene is like finding a needle in a haystack. So in order to do that, the geneticists need to analyse my DNA and basically break it down. However whilst doing that, they can actually discover all sorts of other issues/defects within my genomes. It’s quite a lengthy process. Having possible Ferguson Smith Syndrome is one thing, but to add TAA and any other possible defects to the mix is another!
I was prepared for it all though, just to get to the bottom of it. So my bloods were taken and sent away to start the ball rolling. As with all of my consultations, a lengthy wait was ahead. Up to 3 months for the results.
The Results are in
Well, I say the results are in. They aren’t. The Diagnosis though is Possible Ferguson Smith Syndrome. I received a letter from the Institute of Genetic Medicines from Newcastle Upon Tyne. The letter was somewhat disappointing.
Now, let me make this clear, I have no issues with the person who actually wrote the letter or questioning his authority. But the basics of the letter is and I quote “You have wondered about the possibility of Ferguson Smith Syndrome, an ultra-rare condition which I have never seen before. A number of mutations in the TGFBR1 gene have been reported in families with this condition.” It then goes on to say ” Since TGFBR1 gene mutations are more commonly associated with familial thoracic aortic aneurysm and Loeys Dietz syndrome, this gene can be tested as part of a broader arterial aneurysms gene panel.” Sounds promising. This makes sense. So where is the result??
Upon further reading of the letter it says, “Although we took blood samples from Damion, I have now been informed that his DNA cannot be tested because he does not have a thoracic aneurysm. ” Great stuff, so you can test me, but you cant test me?
The letter goes on to say that the rules around genomic testing within the NHS have recently changed and that it is now impossible for the team to access testing of the specific gene in question. Unless of course they do a full genome sequence, and I quote again, “which is over the top”. They can however try to outsource it to an external provider, but that is likely to be rejected.
My only apparent alternative, now, is to go private and have a private genome test. Which is anywhere between £200 to £3000.
Although I’m still waiting on a telephone call from my consultant as to where we go from here. I feel like I’ve had a kick right in the knackers. I’ve spent a year going in and out of hospital for consultations, worry, panic, mental instability and all sorts. For them to turn around and say, well actually no we cant test you for it, so we’ll brush it under the carpet for now and see what we can do later.
I’ve spent many, many hours over the last year researching the TGFBR1 gene. It’s complicated, so I won’t bore you with the details. Varying mutations of this gene have been found in various syndromes. However, what I do know is, that the mutations within the gene are different between Ferguson Smith Syndrome and Loeys Dietz Syndrome.
A rare condition
Ferguson Smith Syndrome, as I’ve said earlier is a rare skin condition. So for the NHS to say the TGFBR1 gene is more commonly associated with TAA is quite obvious, if you ask me. Ive been told many times, that it is a very rare condition with very little knowledge in it. However, like I say I’ve been doing my own research and found many bits of information that combine to make a relatively concise case for Ferguson Smith Syndrome and specifically to test the genome in cases without a Thoracic Aortic Aneurism.
I came across a very detailed review by David Goudie, a Clinical Geneticist with NHS Tayside. Feel free to read it, It is full of really complicated terminologies, but it’s a very interesting read.
Remember I said NHS England changed the rules and that testing is only possible if you have a Thoracic Aortic Aneurism (TAA). Because the TGFBR1 gene is more commonly found in other syndromes?
Well, the review by David Goudie seems to suggest otherwise. A quote from the review states: “The spectrum of TGFBR1 mutations in patients with Loeys Dietz syndrome and patients with MSSE is different (Figure 4).” It goes on to say…
“We know of over 80 patients with MSSE carrying truncating mutations in TGFBR1 or missense mutations in the ligand-binding extracellular domain of the gene. None of these patients has been reported to have thoracic aortic aneurysms. The TGFBR1 mutations, found in most patients with MSSE, are not associated with a high penetrance predisposition to the development of aortic aneurysms.“
I’m somewhat confused. A study was clearly undertaken and it was shown that over 80 people, who had that mutated gene didn’t have a TAA. Yet NHS England is saying you can’t have a DNA test unless you have a TAA. Very contradictory. Maybe someone hasn’t read Mr Goudies review? The review was published in 2020, so it wasn’t that long ago.
I had managed to track down someone who actually has Ferguson Smith Syndrome, who have also had their DNA tested, only last year. Both mother and son and neither of them had a TAA.
Although the Geneticist in Newcastle is exploring other testing options, I’m not feeling that hopeful. I’m also semi-confident that this case will be put on the back burner and then eventually forgot about. I’m just not fully understanding the process of: “You may have this condition, we’ll test you for it. “Oh wait, we can’t test you for it, because someone says it’s not viable”. ” Thanks for coming, bye”.
My plea to you
As I’ve mentioned before, I and the consultants had spent a year going through tests, biopsies and consultations. I alone, had struggled mentally, physically and emotionally for a year and the end result is, what I believe to be factual ignorance from a higher level within NHS England.
So, if you are reading this and you have knowledge of Ferguson Smith Syndrome, either from a personal, genetic, dermatological or clinical basis, please get in touch with me so we can discuss further.
Any comments you have would be greatly appreciated below.
My journey continues…