Joanna & Charlie's Story, Part 1: X-Linked Ichthyosis, a journey to diagnosis.
A few weeks ago, we were lucky enough to speak to Joanna, the mother of a wonderful little boy called Charlie, who lives with a condition called X-Linked Ichthyosis. In the hope of helping other parents and carers who might be struggling with their own child’s symptoms and diagnosis, and with the aim of raising awareness of the condition, Joanna has been kind enough to share their journey with us, in her own words:
The first time I heard the term Ichthyosis, my son Charlie was 14 months old; we’d spent the previous year searching for answers to the range of medical issues he faced and everyone had been stumped. 5 Years on I now know that our journey actually started much earlier, whilst I was still pregnant. Charlie was my second child following an uneventful and textbook first pregnancy. I strode into my second pregnancy feeling confident and at ease, but this soon changed when at 28 weeks pregnant reduced foetal movements led doctors to become aware of my baby’s low weight gain and an erratic heartbeat. I was monitored very closely and for his safety I was scheduled for an induction at 34 weeks gestation. Following a weeklong failed induction, complications led to a very rushed emergency caesarean section. We were both very unwell and my son was taken from me and rushed to the NICU leaving me alone on a busy maternity ward surrounded by other people’s babies and a very empty cot by my bed.
My NICU experience is something that will stay with me forever, the first time I saw my son he looked so fragile, it felt like the entire room was filled with tubes, wires and beeping machines. Being full of hormones and drugs made my emotions overwhelming; I felt relief my child was alive but a huge sense of failure that his life depended on the actions of total strangers. I remember so vividly a nurse, who’s name I so wish I could remember, but it’s been condemned to the morphine brain fog of that day, telling me how stubborn my son was and that he liked to have his ears stroked. It broke me because as his mother these were things I should have known first. In the NICU Charlie was treated for feeding and breathing issues while his arrhythmia was monitored closely. As time passed, I was more involved with his care and thanks to the incredible dedication of the NICU staff our stay was fairly short.
“At around 2 weeks old we started to see symptoms of dry skin which I and the doctors initially put down to being a premature baby. But as weeks passed by it became more and more significant to the point where he would shed large flakes of skin wherever he lay.”
At around 2 weeks old we started to see symptoms of dry skin which I and the doctors initially put down to being a premature baby. But as weeks passed by it became more and more significant to the point where he would shed large flakes of skin wherever he lay. Changing mats would be covered in skin shed by the time I’d changed him as would his babygro and nappy. When people held him they’d be left with skin shed on their clothes, it was extreme and very upsetting especially when others commented on it as if I hadn’t noticed it at all. If I’d had a pound for every time some well-meaning person would say “you should really put some lotion on him dear” I’d be a millionaire by now.
He itched and clawed at his skin almost constantly, even in his sleep he seemed to wriggle and squirm never really being comfortable or content. The most distressing symptoms where huge cracks all over his head that were deep and raw, often bleeding or weeping. Our health visitor had never seen anything like it and described it as looking like the markings you get on Tiger Bread. We spent months buying up all different creams in the pharmacy and hunting online home remedies to soothe his skin. Often these were very expensive and very ineffective the whole experience was exhausting and frustrating.
We were experiencing a number of other issues such as low weight gain, severe reflux and delayed physical development, which all led to him being tube fed and many readmissions to hospital. His skin issues, whilst distressing, were not a medical priority to our doctors so they simply handed out various lotions and potions, even offering some dangerous advice about physically peeling his skin off with my hands to allow the dead skin to shed. Thank goodness I didn’t listen to that little tidbit of advice. It was assumed he either had a Cows Milk Protein Allergy (CMPA) or an environmental reaction which was the root cause of his skin issues.
Over the following months Charlie’s skin became worse leading to reoccurring skin infections needing serious medical treatment. Our frustration built to a point where we ended up putting constant pressure on our Paediatrician, telephoning her secretary every day for a month until we were finally referred to a Dietician who worked with us to test whether CMPA was the correct diagnosis. The Dietician’s trials and tests were fruitless, and we were again left trawling the aisles of pharmacies looking for a magical cream that would help his skin and give him some relief from the constant discomfort.
“By the time Charlie was 6 months old, I was feeling isolated, overwhelmed and exhausted with more questions than answers… Emotionally I had been battered, at what should have been the happiest of times I felt bereft like I had been short-changed by all the complications of his infancy.”
By the time Charlie was 6 months old, I was feeling isolated, overwhelmed and exhausted with more questions than answers. Emotionally I had been battered, at what should have been the happiest of times I felt bereft like I had been short-changed by all the complications of his infancy. While other mothers were taking cute photos of their babies to post on social media and gushing over how adorable and advanced their babies were, I was trapped in a world of constant medical appointments and bottomless buckets of grease. When I did venture into social circles I was bombarded with either recommendation for weird and wacky treatments that their Aunt Gertrude swears by or scathing judgment about my child’s lack of personal hygiene or my poor parenting ‘for letting him get so sunburned.’
At this time we were using white paraffin ointments covering his whole body at every nappy change day and night. Whilst this was successful at keeping his skin moist it did not help with the build-up of thick hard skin that was now forming all over his tiny body. The ointment seeped through his clothes covering everything he came into contact with in an oily residue, my clothes, bedsheets and his pram everything! The hardest experiences I had where when other mothers would whisk their child away from us to stop their child from being anywhere near my son or would refuse to share toys with him for fear that their child would contract this horrible affliction. I tried to explain his condition but without knowing what the real cause was I had no way to retaliate or educate so I withdrew from those play groups and activities.
Charlie also suffered a global developmental delay, learning to hold his head steady at 8 months and to sit with assistance at 12 months old. We began intense physiotherapy when he was 10 months old and as he got bigger he finally started to crawl and roll, I’ve never felt pride quite like it watching my little warrior making such progress and he was keen to continue moving independently. I was ecstatic over his progress, but the negative of his newfound strength and freedom was that the pressure and friction on his skin would cause it to split and blister all over his body leaving him with sore open wounds and infections.
“I remember walking through the hospital with tears streaming down my face not because I was sad but due to the utter relief that we were being heard and there was light at the end of the very dark tunnel.”
Finally, we were given an appointment with Dermatologist Dr Elizabeth Ogden at our local hospital. She reviewed Charlie’s medical history and symptoms, almost immediately giving us a diagnosis of Ichthyosis. We were very lucky that she has a special interest in Ichthyosis as many patients are misdiagnosed and treated incorrectly. It was incredible to finally have an answer. I remember walking through the hospital with tears streaming down my face not because I was sad but due to the utter relief that we were being heard and there was light at the end of the very dark tunnel...
To read part 2 of Joanna and Charlie’s story, Life After Diagnosis, click here.
For more information on X-Linked, or other sub types of Ichthyosis, visit the Ichthyosis Support Group Website.