Haroon and Tauseef are two brothers who suffer from a rare genetic skin condition called Epidermolysis Bullosa (EB). They are both very kind and strong and have four sisters in their family who are healthy and well.

Haroon and Tauseef’s mum tells their story…

We had three healthy girls and then I gave birth to Haroon who appeared to be a healthy baby boy weighing 9lbs. He looked so healthy and chubby, everything was normal and I was so happy. But only four hours later blisters started appearing all over his body and when I gave him his feed blisters formed around his mouth. The doctors and nurses could not understand what was happening and so the skin specialists from Birmingham Children’s Hospital were called. The specialists carried out a skin biopsy after which they gave me horrifying news that Haroon would only live for a few weeks. I was very angry, upset and struggled to accept I was being told.

After eleven weeks I was given a diagnosis and told that Haroon had a rare genetic condition called E.B which affected his skin. As the days passed his skin became worse he would cry for hours and I struggled to comfort him and he was in constant pain. I desperately wanted to take the pain away from him and nursed him all the time. Feeding him was most difficult as blisters would form in his mouth and throat making it impossible for him to take the feeds. Haroon was 12mths old when he developed a very large blister on his tongue and it was obstructing his airways. In a panic we took him to A&E but the doctors and nurses were not familiar with the genetic condition, possibly because it is so rare. Rather than treat him they began to ask me questions around how this had happened and told me it was a Child Protection concern. After this negative experience no matter how big his blisters became, I managed and treated them at home.

When I became pregnant with my second son, Tauseef, I was not aware that he would be at risk of having the genetic condition as well. I was seven months pregnant when nurses from Birmingham sent me dressings in the post. I was very scared but tried to convince myself that it would not happen again. Due to a slow heart beat I had to have a caesarean section and as soon as I saw him I knew he was affected by E.B as he had blisters on his tiny left leg, my heart sunk with grief. After a few days at home Tauseef’s leg was badly infected and he became seriously ill and was placed on a life support machine. Initially the doctors felt that he will not improve but over two weeks he gradually began to respond. This was an extremely stressful time as Haroon was only two.

Over the years I have developed a good understanding of the condition and now know how this genetic condition is inherited. I have learnt how to best manage the condition taking a day at a time. Their skin is very fragile and the slightest friction to the skin causes sore blisters. The condition is very painful and affects them both on the inside and the outside of their bodies. Because their skin tears they often have serious bleeding, open wounds and frequent infections. The skin is very badly damaged and blisters form which need to be pierced and dressings applied. As you can imagine it is a very distressing experience for my sons and me as a parent. I don’t think there is anything worse than to see your own child suffering all the time. The condition does not improve and it is both emotionally and physically draining. I have to ensure that they receive the high level of care to minimise infection attempt to try to make them as comfortable as possible. This means they need to have a rigorous routine dressings changed and baths three times a week.

As they are getting older their care needs are becoming more complex both Haroon and Tauseef have amazing personalities and a good sense of humour. They desire to have a normal life and be able to participate in sports and leisure activities but fully understand their limitations.

What helped?

The genetic team visited my home several times and supported me to share this information with my healthy daughters. She helped me to explain what a genetic condition is, and that although the girls do not have the condition, they may carry a gene for it which could be passed on to their future children. My girls now understand why it is important that they have the blood test to see if they are healthy carriers and are aware that we can also test potential partners too.

The appointment in the genetic clinic has helped me to understand why and how this has happened to my sons. At the appointments I was able to ask questions and get a better understanding of how this had happened and what it may mean for my other children. The genetic counsellor spoke in Urdu and simplified the information to ensure that I fully understood and she saw us at Oldham Hospital which made it easier for us to attend.