Joanna & Charlie’s Story, Part 2: Life after a diagnosis of X-Linked Ichthyosis
In the second part of her story, Joanna explains in her own words how life changed following her little boy Charlie’s diagnosis of X-Linked Ichthyosis.
… Dr Ogden prescribed some creams and ointments as well as a care regime for us to start trying. We were also given open access to the wound management team in our local hospital meaning we could get quick and specialist medical care for his wounds and blisters as and when he needed it.
Following our appointment with the local dermatologist we were referred to a Genetic Dermatologist based at Northwick Park hospital in Harrow. Blood tests showed that Charlie had X-Linked Ichthyosis (XLI) caused by a deletion of the Steroid Sulphate Gene (STS). XLI is a male dominate disorder meaning that women are carriers of one faulty X chromosome which is then passed on to their children. As women have 2 X chromosomes the other healthy X chromosome takes over leaving carriers unaffected and, in my case, totally unaware of the existence of the condition. Further genetic screening showed that I myself and my mother are carriers and that my brother also has XLI in a much milder form than my son’s.
XLI symptoms normally show themselves within the first few weeks of life but can happen at any point during the first year of life. XLI causes dry flaky skin that builds up leaving discoloured thick scales, normally these scales are brownish in colour. Patients often get accused of having poor personal hygiene as their skin appears to be “dirty”. Skin is left very susceptible to sun damage and friction caused by clothing and normal daily activities. If left untreated the thickened scales of hard dry skin can cause issues with joint mobility, pain, tightness as well as large spread fissures and cracking leading to skin infections.
In addition to the main skin symptoms XLI is also linked to a large number of complications ranging from intellectual and behavioural disorders, arrhythmia, poor renal function, poor thermal regulation, seizures and immunodeficiency. XLI can also have implications for carriers of the condition primarily during labour and delivery. Often causing slow, non-progressive labours with an increased risk of complications and still birth. Recent studies at Cardiff University have also showed a link between STS deficiency and mental health conditions such as depression and anxiety for carriers.
I’d love to say that the diagnosis was the end of our journey, but it was a bittersweet sidestep giving us an explanation and understanding of Charlie’s condition but again leaving us with more questions and uncertainty.The difficulty with ichthyosis is that there are so many different types caused by different gene mutations and deletions.The affects and associated complications are so varied and wide ranging that even patients who have the same type of ichthyosis can present with dramatically different symptoms and will have completely different care plans.
“I kept a detailed diary log of symptoms, treatments and bathing schedules even detailing amounts and times. Being more organised and scientific in my approached really helped me to cope with the frustrations of the trial-and-error rollercoaster.”
Our dermatologist recommended treatments and for us to try, with regular follow up appointments in the first 2 years after diagnosis. This was so helpful as we were able to try treatments and then reflect on the outcomes with our dermatologist. I kept a detailed diary log of symptoms, treatments and bathing schedules even detailing amounts and times. Being more organised and scientific in my approached really helped me to cope with the frustrations of the trial-and-error rollercoaster and helped me find the products and ingredients that worked best, honing my product selection skills and most of all helping me cope with the emotional impacts of caring for my child’s condition. I now know that Urea, Lactic acid and Paraffin based products work best for Charlie. Creams work best in the mornings and paraffin emollients help more at night-time to relieve his itching and retain moisture. We also trialled bathing regimes, bathing less frequently and more frequently verses taking showers. Soaking time and body submersion was also calculated and measured, we looked at the effects of saltwater verses fresh as well as Nano Bubble water therapy.
By the time Charlie was 3 years old we had got into a good routine and at a place where his skin looked normal and there was barely any visual indication of his XLI. Although his skin looked very good, we learned the hard way that it can deteriorate very quickly and it then takes a long time to regain control of it.Charlie is also affected significantly by the change in seasons; the summer weather reduces symptoms whilst cold harsh winters punish his skin causing seasonal flare-ups so every few months we have to tweak our regime accordingly.
“When Charlie was 4 years old he started to suffer with sensory over load and in particular with temperature and textures. This resulted in him refusing and fighting his treatments and our whole daily routine became an exhausting and distressing battle ground.”
When Charlie was 4 years old he started to suffer with sensory over load and in particular with temperature and textures. This resulted in him refusing and fighting his treatments and our whole daily routine became an exhausting and distressing battle ground, forcing us once again to review and adjust our approach to Charlie’s skin care. Once again we were very thankful to have a proactive and supportive dermatologist who recommended a spray emollient which was revolutionary for us at this time allowing us to give Charlie some much needed breathing space from his previous routine whilst ensuring his skin was moisturised enough for him to cope especially at school. We were then able to gradually re-introduce a more in-depth regimen.
We now follow a regime of twice daily bath soaks, applications of cream 4-5 times a day as well as the ad-hoc use of the spray emollient throughout the day. Charlie also wears viscose therapeutic clothing which helps hold moisture on his skin for longer.
“At nursery he only attended for 3 hours a day, so I was able to manage his condition either side of his sessions, but Primary School meant we faced a whole new set a challenges.”
One of the biggest challenges for me emotionally and practically has been transferring his ichthyosis care to other people. I have always felt it was a huge responsibility to place on other people, whether it be friends or family. It was not that I did not trust them, it was more about protecting them from the responsibility should something happen with his skin or were he to become ill from overheating. So, he has rarely spent time away from me, that was until Primary School reared its head. At nursery he only attended for 3 hours a day so I was able to manage his condition either side of his sessions, but Primary School meant we faced a whole new set a challenges.
With the help of the school, Local Education Authority and the School Nursing Team we put into place an Education Health Care Plan and a Medical Needs Care Plan to support Charlie in mainstream school. He now has a dedicated 1:1 Learning Support Assistant who is trained to support all of his needs, administering his skin treatments, specialist first aid and medications. This means he can have creams applied whenever he needs it including a routine full body cream application at lunch time every day. This has all allowed him to participate fully within school enabling him to get the most out of his school experience.
If I had to describe Charlie today, I would say he is a feisty, strong willed and happy child who astounds me every day with his courage, strength and determination. Ichthyosis will always be a huge part of our lives and we are very active within the ichthyosis community, but it doesn’t define who Charlie is and who he will be.
We’d like to express our heartfelt thanks to Joanna for sharing such a wonderfully honest and thorough account of raising a child with X-Linked Ichthyosis.
(If you haven’t yet read part one of her story, on the journey to diagnosis, you can do so here.)
If you would like more information and support on X-Linked Ichthyosis, or another sub type of ichthyosis, head to the Ichthyosis Support Group website.
