Arrow’s journey with XLI

The story of Arrow

Arrow is 21 months and was born at 31 weeks due to a complex high risk pregnancy. Arrow was diagnosed with early onset serve symmetrical intrauterine restriction at his 20 week anomaly scan and was given very low survival odds and told he would likely to have a genetic/chromosomal condition.

He was born weighing 1.245kg and had a 36 day nicu stay (at 3 different hospitals). He seemed to be doing well.

We noticed Arrow had very dry skin like dragon scales from only a week or so old and were just told to use coconut oil and assumed his skin was due to being in an incubator and similar to the typical newborn peel most babies experience. It wasn’t until we got home that we started to notice difference in Arrow and not just his skin but it’s hard to say whether these difference are linked to his condition or not.

At around 3 months he went through big regressions with feeding, sleeping and his overall development became increasingly delayed. We had big discussions with his paediatric consultant and pushed for him to have genetic testing as we knew something wasn’t as it should have been. At the time we also brought up his skin as the dryness wasn’t improving and were told it was ‘baby eczema’ and prescribed some cream. When we took Arrow to get his bloods drawn for his genetic testing the nurse noticed his skin and got an oncall consultant to come and take a look ‘This looks like ichthyosis’ he said and urged us to get him seen by dermatology. We took Arrow to see a dermatologist who confirmed it was ichthyosis and after sharing some background information and taking so photos the dermatologist suspected it to X-Linked but said his genetic bloods would confirm this. Months went by and we found ourselves researching a lot (as you can probably imagine), then in August 2023 it was confirmed he has a X-linked deletion. So far all we know is that he has X-linked ichthyosis also known as XLI and that this is only part of his journey, we are still learning and he is due to have his 1st appointment with a geneticist in February.

For now we are trying our best to look after Arrow’s skin and keep it well moisturised this includes a daily skin care routine. We known that it affects much more than skin for many with the condition including Arrow and that any daughter’s he may have in the future will be carriers of XLI. We will also keep looking for answers for Arrow’s outstanding medical differences and take everyday as it comes.