Ichthy-what??

I think I had better explain what the heck I’m harping on about all over this blog.  Before we had Alfie we had never heard the word ichthyosis let alone know what it was. 

Ichthyosis (ick-thee-o-sis) is a family of rare genetic skin conditions characterised by dry scaly skin.  Most types are present from birth and are the result of either inherited genes or mutations of genes.  There are many different types of ichthyosis ranging from Ichthyosis Vulgaris which affects around 1 in 250 people to Harlequin Ichthyosis which is extremely rare with around 3 cases each year in the UK.  Each different type of ichthyosis has its own range of symptoms and even two people with the same type of ichthyosis can present very differently. There is no cure for ichthyosis and treatment mainly consists of management of the skin. 

More information on the different types of ichthyosis can be found on the Ichthyosis Support Group (who are awesome by the way!) website here: http://www.ichthyosis.org.uk/category/types-of-ichthyosis/

The type of ichthyosis Alfie has is called Epidermolytic Ichthyosis (EI) but is also known as Bullous Ichthyosis, Epidermolyitic Hyperkeratosis or Bullous Ichthyosiform Erythroderma (That’s a lot of new words right there isn’t it!).  EI is rare and affects less than 1 in 100,000 births.  EI is characterised at birth by very fragile skin that blisters and shears off.  The skin is very red and extremely fragile.  As children with this condition get older, the fragility of the skin improves slightly, blisters get less frequent and skin gets thicker in places especially around joints.

EI is caused by a fault on a keratin gene – either K1 or K10.  Alfie has the K10 type which means that his palms and soles are unaffected and he was diagnosed by blood test when he was a month old although the results took months to actually come back!  The fault on the keratin gene means that the layers of the skin do not always hold together properly.  If the skin is knocked (even slightly) the top layer can shear off leaving red raw skin underneath.  Blisters appear easily caused by trauma, rubbing from clothes/shoes etc, infections, heat.  Initially the skin is dry but not excessively so; as time progresses, the skin starts to thicken especially on the joints. 

Alongside the fragility, blistering and thickened skin, other issues associated with EI are: mobility issues (due to soreness and tightness of the skin), inability to regulate body temperature (due to inability/reduced ability to sweat leading to overheating), skin infections, hearing issues (due to build up of skin and cream in the ear), difficulty in putting on or maintaining weight (due to increased metabolism), and social/emotional issues surrounding visible difference.

Management of EI involves long baths, lots of creams, sometimes bandages/dressings, bursting blisters, physio therapy, occupational therapy and emotional support. We have to try to find a balance in skin care that means we keep him moisturised so the skin isn’t dry itchy and cracked but not so moisturised that the skin becomes fragile.  We see a lot of healthcare professionals including GPs, Specialist nurses, dermatologists, physiotherapists, occupational therapists.  We cannot skip the routine, it has to be done to keep Alfie healthy.  It is not always easy, he is almost 4 and he doesn’t always want to comply – what child of that age would!

Ichthyosis is a life-long condition, it has to be managed.  But it is not the be all and end all.  It is part of who Alfie is and this should be embraced and not ignored, it does not however, define him as a person. Alfie gets on with life as any almost 4 year old would. Even when i know he is sore he never complains and never stops doing things because he is in pain.  He is the bravest boy i know, he puts up with a lot.  Not many children his age would sit in the bath for as long as he does, then sit and have cream applied, stand still while we burst blisters or sit through long hospital appointments.  The rest of the time he is charging around like a whirlwind!  We try to make it as fun as possible but sometimes he just doesn't want cream on and he doesn't want to keep still, those times are a challenge...if you have a small child you will know how wriggly they are, let alone one that is greased up to the max!!  

I have explained a little about ichthyosis and Alfie's specific type but i hope that you will have a look at the link above and read a little more about other types of ichthyosis because they are all very different.