2019. #52Ancestors in 52 Weeks. Week 2, Prompt: ‘Challenge'

#52ancestors

‘Challenge’

A Challenge for many in the Cottam ancestry line of my family has been coping with the genetic skin disease “Hailey-Hailey”

Those members of the family who I know have suffered from it are circled in this rough family tree:

(I have since learned that George's daughter also has it.)

I probably won’t be able to trace it back any further as none of the 6 siblings are still alive.

My mother (4. Lilian) said that her father (Joseph COTTAM) had a bad rash at times but they didn’t know what it was.

Genetic and Rare Diseases Information Centre (GARD)

  ( Last updated: 31/05/2017)

Hailey-Hailey disease is a Congenital and Genetic Skin Disease.

Also known as Benign familial pemphigus; Benign chronic pemphigus; Familial benign pemphigus.

Hailey-Hailey disease causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. 

Secondary bacterial, fungal and/or viral infections are common and may exacerbate an outbreak. Some people have found that outbreaks are triggered by certain foods, hormone cycles, and stress.  Symptoms are often worse in the summer months due to heat, sweating, and friction. 

Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner.^[2] 

 A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters, and rashes. There is no known cure.

The differential diagnosis includes intertrigo, candidiasis, and frictional or contact dermatitis. A biopsy and/or family history can confirm. The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus.

Treatment focuses on reducing symptoms and preventing flares and may include topical medication, laser, and other procedures.^[1][3][4]

^{http://www.atlasdermatologico.com.br/disease.jsf;jsessionid=6106A2841F3E8A7ABCEB7F94FCD89E42?diseaseId=176}

I have found that it has a peculiar action: a blister forms and then there is a spread of blisters outwards in a sort of circular fashion across the skin. As they heal – they leave a reddened area which turns to a brownish discolour and takes a long time to disappear. If the blisters break, crust scabs form and become itchy as they are irritated by clothing, etc. The process can go on for months, with other blisters forming close by or in more areas of my body.  

With sores often over my back, under my arms, chest, knees, and on my neck. I stay inside waiting for healing.  I have tried many so-called cures but the only thing that works is time and patience as the blisters seem to have their own idea of when to give in. At their most debilitating I take prednisone tablets, which do help in healing the current ones, but have the side effect of thinning the skin!  And make me feel queerer than usual as if I am 'out of my body' and as hungry as a hunter.

My blisters form when my body gets heated in any way such as hot weather; body being heated up from warm clothes or temperatures in cold weather; skin rubbing together as in folds or body parts; anything rubbing on skin such as tight elastic, wrinkles in sheets, a loose thread or tag on clothing; stress causing build-up of heat as in being ‘hot under the collar’.

It is a case of always being aware of my body and changes in temperature and mood.

I will research further to find out if any more family members have also been unlucky in inheritance.

Having said all of this though I do appreciate that many people inherit far worse things than I have done.