Tanish's story ichthyosis Genetic Disorder - Jeans for Genes

Tanish's story

13-year-old Tanish has the genetic skin condition called ichthyosis. This painful skin condition affects one in 100,000 people. It causes red, sore and peeling skin and can affect mobility.

When Tanish was born a month premature, he weighed just 4lb 6oz. His skin was so red raw, peeling and fragile that he cried constantly. Doctors were initially baffled, and Tanish stayed in hospital for 19 gruelling days. Eventually he was referred to Great Ormond Street Hospital (GOSH) where genetic testing determined he had ichthyosis.

Ichthyosis is a very rare genetic disorder which makes the skin fragile from birth, causing it to peel and form blisters. The skin thickens in some areas but is more fragile in other areas. Open sores are vulnerable to infection, and the disorder can also affect mobility. Around half of all new cases are inherited from an affected parent. If a parent does have ichthyosis there is a 50/50 chance of them passing it on to their child. There is no cure.

The doctors examining Tanish also discovered he had a heart murmur, which needed annual screening.

‘We had specialist appointments for his skin every month for Tanish,’ says his father, Abhilash. ‘It was very hard, especially for my wife, Daksha. Tanish cried a lot throughout most of the day and night, and Daksha also looked after our daughter Khyati, who is now 17. We were lucky Tanish’s condition wasn’t the worst it can get but it was still difficult. For seven years we were worn out with all the appointments.’

When Tanish was a toddler he broke the same leg twice in one year, falling over. Doctors discovered he had a vitamin D deficiency and needed supplements.

Tanish has been admitted to GOSH twice for management of ichthyosis. There, nurses bathed him, rubbing off the painful thicker skin, which is something that Tanish’s parents can’t bring themselves to do as it is so painful for their son.

Now Tanish’s skin is creamed all over a minimum of three times a day. He has eye drops at least four times a day. Some of his joints are stiff due to the hard skin.

‘The biggest problem for Tanish is at school,’ says Abhilash. ‘Because of his condition he doesn’t have many friends.’

The next step in Tanish’s treatment is a course of the supplement acitretin run by GOSH. Tanish’s parents are worried about potential side effects so have yet to sign up. At the moment they are trying natural therapies, including aloe vera drinks and Ayurvedic therapies, which have helped. Tanish’s condition also improves in warmer weather.

‘Tanish just wants to be like any other 13-year-old boy. He loves football, plays FIFA games, enjoys cooking and board games. He wants to be a pilot when he grows up.’