The girl whose skin never heals

 

Sohana and her mother Sharmila talk about EB

Sohana Collins has never known a day without pain. The 11-year-old has a rare genetic disorder that means her skin blisters and tears at the slightest friction.

It also affects her internal skin, which means her mouth and oesophagus blister. This makes swallowing difficult and eating painful - her food has to be liquidised. The condition is caused by the lack of a protein that holds the skin together.

About 8,000 people in the UK have epidermolysis bullosa (EB).

Start Quote

There is no moment of any minute of any day that she is not in some pain somewhere on her body”

End Quote Sharmila Nikapota Sohana's mother

Sohana has a particularly severe form known as recessive dystrophic epidermolysis bullosa (RDEB), which gets progressively worse. Most patients develop malignant skin cancer before their mid-30s.

I have met Sohana several times over recent months and she has always been uncomplaining about her condition, with a great sense of fun.

On one occasion she chatted to me animatedly about the Harry Potter books while she sat on the sofa next to her mum, with a thick scarf covering her entire face.

The scarf was to shield her eyes from light. RDEB periodically strips the protective UV layer from the cornea - meaning she must stay in the dark for several days. Any light caused an intense pain, but she was keeping herself busy by listening to the audio books about JK Rowling's schoolboy wizard.

Bone marrow cells

Twice a day she must endure her dressings being changed. Her mother has to prick each blister otherwise they keep growing until large sheets of skin fall off leaving a bleeding raw patch which is reluctant to heal.

"There is no moment of any minute of any day that she is not in some pain somewhere on her body," says her mother, Sharmila Nikapota. "To have to prick her skin every day and make her cry is horrible. It's definitely the worst part of my day and of hers."

The prospect for patients such as Sohana has been bleak until recently. Now she is one of 10 patients testing a new cell therapy at London's Great Ormond Street Hospital.

It involves an infusion of donated bone marrow cells, the hope being these will migrate to her damaged skin and encourage healing.

The trial is lead by Prof John McGrath, head of the genetic skin disease group at King's College London, whose team discovered that a subset of bone marrow cells could promote skin repair.

"We are not sure how these specialist bone marrow cells work, but we think that once infused into the body they respond to distress signals from the damaged skin - which are effectively asking the body to heal them," he says.

Improvement

Three months after the infusion, I returned to see Sohana. Although her skin was still very damaged, parts of it seemed much improved.

Sohana's family and the medical team agree that her skin is blistering less and the wounded areas are healing better. Changing her dressings is taking less time than before. She has even put on weight.

Sohana agrees: "I think things have got a lot better and my skin is a lot less red and sore and a lot less itchy as well."

There is always a danger of wish fulfilment in such situations - it is understandable that everyone is desperate for signs of improvement. Prof McGrath is cautiously optimistic, but won't be able to make a clear judgement until all the data from the 10 patients is reviewed next year.

The treatment is not a cure but it may buy time for Sohana whilst other research avenues are explored.

"We expect the anti-inflammatory and better wound healing effects of these cells will last for between six and nine months, perhaps even a year. At that stage we can perhaps do this treatment again or maybe we'll be moving on to an even more effective treatment" says Prof McGrath.

There are several options including using tissue-matched cells for therapy - probably some kind of bone marrow transplant.

It can be difficult to find suitable bone marrow donors and doctors say they cannot justify going down that route until they can show that the initial trial is successful.

Sohana Collins suffers from a rare skin disease that causes her constant pain

Several bone marrow transplants have already been carried out in the United States, leading to permanent and significant skin improvements. But three of the first 10 patients died, so researchers are trying to establish how to make the treatment safer.

Scientists at King's are also investigating gene therapy - with the aim of correcting the faulty protein in affected patients.

Momentum

Rare diseases often struggle to get research funds. Sohana's parents were determined to accelerate progress so they set up a charitable fund to raise money that goes directly to fund clinical trials.

They have been extraordinarily successful. The Sohana Research Fund has raised more than £2m. It has some high-profile supporters, the actor Damien Lewis is a patron.

"The future really is looking a lot brighter for patients with EB - there is huge momentum going towards the search for better treatments and maybe even a cure," says Prof McGrath.

"The benefits of the research could apply more widely for patients with damaged skin, such as those with ulcers, wounds and burns. "

Sohana has three younger sisters, none of whom is affected by EB. "For the first time in her life Sohana's skin has been getting better rather than progressively worse," says her mother. "We know that time is running out for her so we just hope that a treatment will come along that will allow her to lead a normal life."

 
Fergus Walsh Article written by Fergus Walsh Fergus Walsh Medical correspondent

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  • rate this
    0

    Comment number 71.

    Heartfelt pain and compassion for you, ma petite.

  • rate this
    0

    Comment number 70.

    If this is caused by a recessive gene, her parents were just lucky that their younger children did not inherit the gene from both parents. In the case of recessive genes, some parents may not be so lucky.

    If it is a spontaneous gene mutation, then finding a treatment or cure as with hemophilia is best practice.

  • Comment number 69.

    This comment was removed because the moderators found it broke the house rules. Explain.

  • rate this
    +3

    Comment number 68.

    There's currently no cure for epidermolysis bullosa. For now, treatment focuses on addressing symptoms, including pain prevention, wound prevention, infection & severe itching that occurs with continuous wound healing.
    I hope this trial - the infusion of donated bone marrow cells to migrate to her damaged skin & encourage healing. - will work. Everyone deserves to live most days without pain.

  • rate this
    +2

    Comment number 67.

    It is people like Sohana Collins and Jonny Kennedy (RIP) that I look to for genuine inspiration whenever feeling down.

    The stress, anxiety & pain that they experience daily just doing the basic things in life, while still having positive attitude & achieving great but small personal things puts the sado vote for me experiences that is now the hard sell on X factor into perspective, low.

  • rate this
    +1

    Comment number 66.

    65.
    Umar
    3 Hours ago

    Lost for words, God bless you and make your life easy.
    __

    Looks like God's done enough for her thanks.

  • rate this
    +2

    Comment number 65.

    Lost for words, God bless you and make your life easy.

  • rate this
    +4

    Comment number 64.

    I suffer various aliments as a man of 61 and do feel sorry for myself sometimes,and friends and family also feel for me but this child rightly makes me feel like a whining old man,good luck to her and her parents and when in the future i think i am in pain i will think of her and smile she is both amazing,beautiful and more grown up and resilient than i will ever be,i salute you.

  • rate this
    +3

    Comment number 63.

    Thank you for sharing this amazing girls story Fergus. I am lost for words, and so grateful for my healthy children, ok one has asthma one as recently been diagnosed with aspergers but to me they are my world and as a parent I can understand the amazing love her family have for each other.I hope a cure can be found for this horrendous condition because she truly deserves a life without pain.

  • rate this
    +6

    Comment number 62.

    Truly, inspirational.

    It makes you think "For the Grace of God, Go I"

    And makes you realise that most of our daily moans are so trivial - and that we should live each day to the full, as if its our last.

    Because, one day, it will be.

  • rate this
    +4

    Comment number 61.

    What a brave girl.

  • rate this
    +3

    Comment number 60.

    I've gone through dark years with a skin disorder and I am utterly moved by Sohana's strength. Anyone who has never 'itched' will have no idea what it is like. Love and hugs to you, Sohana and I hope you find comfort soon. It's all about being positive - but you know that.

  • rate this
    +2

    Comment number 59.

    'The treatment is not a cure but it may buy time for Sohana whilst other research avenues are explored'

    An research costs money...

    I hate to see anyone suffer illness, especially children.

    Whether you have a spare penny or a spare pound give it where you can and assist medical science to research and treat this illness so that sufferers have some hope and encouragement.

    God bless you Sohana

  • rate this
    +4

    Comment number 58.

    this young lady, Sohana Collins, is an inspiration. I wish her all the best with upcoming treatments

  • rate this
    +3

    Comment number 57.

    @48 You're confusing EB with eczema vaccinatum which is a rare reaction to smallpox virus seen in some individuals with skin conditions such as eczema. EB is an inheritable genetic condition and not attributable to any vaccine.

  • rate this
    +3

    Comment number 56.

    www.sohanaresearchfund.org

    Hope this is allowed...

  • rate this
    +1

    Comment number 55.

    @ 48: As I remember it there's been a sugested link between the smallpox vacination and eczema (only suggested!). Since I had the vaccine, and have eczema that didn't start till I was 7, that could apply to me. However, while my eczema is a pain it's no comparison to EB. I've met people with EB and it's way worse, and definitely genetic.

  • rate this
    +3

    Comment number 54.

    Bless.

  • rate this
    +4

    Comment number 53.

    Sohana looks so sweet and brave.

    My heart breaks when I read this. I hope you get better.. you are obviously well loved by a lot of people. Good luck ))))

  • rate this
    +6

    Comment number 52.

    EB sufferer here. I have the Simplex variant, along with all of my sisters and brothers; my blistering is confined to my hands and feet and it nowhere near as severe as this girl's. Wishing her all the best.
    This gives me some hope that soon there will be a cure.

 

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