Here you find reports from patiens and families about their lives with CIP.
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From a discussion with a family with a boy with SCN11A-related CIP
“Our eldest of three sons has felt no pain since birth. But that’s not quite true for him. Sometimes he has severe pain in his feet that lasts for 30–60 seconds, which is unbearable. He can also perceive showers and warm drops of water on his skin as extremely unpleasant. On the other hand, he breaks his thigh bone without it causing him any pain. He is very social and has an extremely good sense of humour. He is cheerful. He has hobbies like all 16-year-old boys. He likes computer games, mountain biking and meeting friends.
But he has plenty of medical problems. When he is sick, it normally means he is really sick. Broken bones, operations, bone infections and his poor wound healing have led to a leg length discrepancy that makes walking difficult. He has an insatiable itch, so that he inflicts extensive wounds on himself by scratching and rubbing. He inflicted large mutilations on his nose when he was still a child. When people look and talk because of his mutilations, he says, let them look, I don’t mind. It hurts us as parents, but he copes admirably and that is a real strength of him. Weight gain is extremely difficult due to his gastrointestinal motility disorder, he has a sweat regulation disorder, continence problems and he still often bites his fingernails completely.
Specialists from various disciplines take care of each of his medical needs, but often one does not talk to the other. What we have always lacked enormously and what would be a great help for him and for us is a central contact person who simply keeps an eye on him, who knows him, who directs his medical care and keeps the specialists mutually informed. This aspect becomes even more relevant if the transition into adulthood is to succeed. This is where we are really concerned. We need the linking of the various doctors and constant care by a central contact point. Respective structures are obviously neglected in our health system.”
(published in Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Genetic pain loss disorders. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757)