Tom's story | Living with an ultra-rare skin condition (Pachyonychia Congenita)

Tom is a 44-year-old patent attorney. He lives in in Swansea with his wife and two young sons. He has Pachyonychia Congenita - an ultra-rare genetic skin disorder caused by a mutation in one of five keratin genes.
Read Tom's story here: www.genomicsengland.co.uk/pat...
Read a blog by his doctor, Dr. Neil Rajan here: www.genomicsengland.co.uk/blo...

[@amyalphin7053]

This is my story too. While my great-grandfather and grandfather suffered with the same, I was the first in our family to receive an official diagnosis via DNA testing through the PC Project. Unfortunately my daughter also has it, but at least now she knows what it is and how to care for it properly. Because it is such a rare condition, we were initially told we would probably never meet another with this condition. Thank you for sharing. It helps to know that we are not alone.

[@CharitysClarity]

I was told that as a child I inherited it as well an my Nana was the 1st out of 15 siblings she was spontaneous, she recently passed away at 94. I found the PC project an never felt so great full to not be alone, I have 4 children, but only 1 has PC. Your not alone 🤗 I think there are more of us then we know, it’s something that many of us hide even though we are in agony, I don’t think a lot of people truly ever get a diagnosis 😓🙏

[@p71josh]

Thanks for sharing, I have PC. I drive fuel trucks for a living so I’m off my feet for most of my work day which helps a lot with the pain. I had to resign from my last job since it required a lot of standing and walking, the pain was too much. What kind of footwear do you use? I’ve been trying to find comfortable shoes to help with our condition.

[@CharitysClarity]

I found switching shoes is the only way I can manage, I’ve spent absurd amounts of money on the “best” shoes, but there the “best” for regular people, I have crocks brands of sandal slides, sketchers flex with memory foam in wide sn12753w is the style I’m wearing now, and a lot of various sketchers that are wide an have the memory foam, I put hydrocolloid bandages on I get targets brand because there cheaper an I go throw tons of these, I put them on the calluses not the blisters, I wait an use the numbing cream on the blisters until they dry out & aren’t as painful then add the bandages, they changed my life, that an 60g of Motrin with food an a mixture a compound pharmacy does for me 10% ketoprofen 10%gabapentin and 6% lidocaine this is a miracle cream, it numbs everything if I have to walk or I have bad blistering and cracks this medicine makes it possible to actually have no pain at all. The mixture I get from the pharmacy is what has changed my life though after 35 years of never having a day without pain, that stuff truly stops it, way more then any pain pill etc. Hope I helped a little ❤️🙏 I get blisters more then callusing and these blood vessel nerve ending things, they are the most painful for me. I highly recommend getting this numbing cream you can get a prescription even at an urgent care of video appointment if your how I use to be and didn’t like showing your feet to anyone, I think it’s helped do something to the nerve endings because my feet haven’t blistered an callused up as much as typical an I am doing a ton more standing and walking, I think it may have helped my feet long term the more I use it.

[@p71josh]

So sorry it took me so long to respond, but thank you so much for this information. I’m going to look into that pain cream and maybe some new shoes. I wear Nike air monarch and they are pretty decent on my feet but wear out pretty quick

[@shawnskates]

​@p71josh I also have this and I stupidly skateboard and played sports as a kid. I would just push through it bc I thought it was normal. Anyways, skateboarding shoes are some of the thickest most comfortable and long lasting thing I could recommend. Im sorry for your pain.

[@yammyamm7058]

I know someone with this uk