The Welsh Three Peak Challenge for RACC-UK

Hello,

In 2018 my son Louie was born happy and healthy and was thriving in all aspects of life. Around the age of 2 years old we started to notice that Louie was getting reoccurring episodes of Fevers and sickness, this was put down to just 'childhood illness'. Louie stated to attend Nursery in Jan 2021 when quickly it was noted that the illness he was getting were not that of a 'normal' 2 year old. Later that year after many trips to the doctors we were referred to Southampton General Hospital where we would see a paediatrician for the first time, where I would first mention the idea of Louie having an Autoinflammatory disease . Louie had a lot of testing done but yet again it was all put down to 'normal' childhood illness. In Jan 2022 we were referred again to a different doctor at the hospital, they ran test after test and nothing was coming back, again I mentioned about Louie having some form of Autoinflammatory disease, again I was shut down, it has taken me nearly 3 years to get Louie to be taken seriously. In May 2023 I was referred to a rheumatologist at Southampton general hospital and in September 2023 Louie was given the diagnosis of having PFAPA Syndrome.

In the last year Louie's symptoms have become a lot worst and has resulted in him getting Fevers above 41c, severe pain in his legs and abdomen, sickness ,mouth ulcers his eyes swell, along side many other symptoms. Coming across Rachel at the RACC-UK online has been a miracle in its self, Rachel puts her heart and soul in to helping families get their children diagnosed, autoinflammatory diseases are not well known and many doctors do not have the knowledge when it comes to these sorts of diseases and 9 times out of 10 it is down to the parents to push and push to get a diagnosis. Rachel and her team help so many families with anything and everything she can from writing letters, to having meetings to sharing all her knowledge. Having knowledge is power and that is the reason my friend and I are climbing the three peaks in Wales in under 24hours to raise money for this amazing charity but also to raise awareness for autoinflammatory diseases.

More information about Rare Autoinflammatory Conditions Community- UK: The UK charity for patients and families suffering from Rare Autoinflammatory conditions. We are led by patients, parents, carers and experienced medical professionals, in the fields of rheumatology, immunology and nephrology. Patients in the UK with Autoinflammatory conditions have often endured a long delay to diagnosis which impacts on long-term health and quality of life.