Saturday, September 26, 2015

Dravet syndrome and birthday parties

Meet the little girl who has not had a birthday party for four years - because excitement could kill her.

Isla Smith, four, has Dravet syndrome, a rare form of epilepsy where the potentially lethal seizures can be triggered by excitement, as well as temperature, water and what time the youngster eats.

She was diagnosed with the condition aged just 14 months and since then her parents, Claire and Jason, and her sister Ruby, eight, have had to tailor their lives to fit around her unusual condition.

For poor Isla this means she cannot have birthday parties for fear of the excitement causing a seizure.

Any one of the seizures could be her last having put too much pressure on her heart.

Claire, 37, an administrator from Dewsbury, Yorkshire, said: “I have to push it to the back of my mind, but every big seizure Isla has I can’t help but worry that it will be the last one.

“She could have a seizure and be gone. She’s a ticking time bomb that could go off at any time.

“We would love Isla to just be a normal four-year-old and enjoy life like she should.

“Isla’s birthdays are always a big milestone for us, especially last year as I never thought she would get to see her fourth, but unfortunately we have to keep these as low key as possible.

“Her sister Ruby has seen things that an eight-year-old shouldn’t see.

“It got to the point where Isla was having so many seizures we couldn’t protect her from it any more.

“We struggle to go out and about with Isla because she’s so unpredictable. We can’t even go shopping because she might have a seizure in Sainsbury’s. It takes over your life.

“Ruby finds it hard to do her own thing. It’s not the life we wanted for her. It’s out of our control.”...

“They tried different medications but they seemed to be making it worse. We were going back every couple of weeks.

“We kept calling the ambulance and they would ask what was wrong but we couldn’t tell them.”

At nine months old Isla had a seizure that lasted three hours. She was put into an induced coma and suffered brain damage.

She reverted back to being a newborn and could not even suck a dummy.

As a result Isla does not walk or talk and is fed through a gastrostomy. She is also fitted with a portacath to enable instant IV access, as when she has a seizure her veins start to collapse.

A genetic test eventually revealed Isla had a mutation of the SCN1A gene, which links to Dravet Syndrome...

Last year, aged three, Isla took a turn for the worse.

Claire said: “We didn’t know if she was going to live or not. It was very scary.

“They told us to get the family to say goodbye because they didn’t think she would make the next 36 hours.

“Thankfully she pulled through but it took six months to get her back to how she was, and a lot of hard work.

“She had to go through a drug-wean programme as she was in PICU in Sheffield for six weeks and was addicted to the drugs.”

Isla is now on three different drugs to keep her condition under control, but she still has seizures.
Courtesy of a colleague


  1. One thing I never dreamt about was having a special needs child, but evidently that was ‘The Big Guys’ plan. Our daughter Elsa (WE NAMED HER BEFORE THE MOVIE FROZEN CAME OUT!) has a rare genetic mutation that causes her to have severe seizures. The syndrome is called Dravet Syndrome, but we prefer to call it The Elsa Syndrome, because I refuse to treat my daughter like a medical study...

    I am angry. I am confused. I am numb. I feel like I am constantly forgetting something which creates a never ending pit deep in my stomach.

    That Saturday morning I felt that same pit. I looked at my mom, Erin and B and said,”I’m about to hear something bad, I can feel it.” I was right. “She may never stop seizing and if she does she will be in a partially vegetative state where she may open her eyes a couple times a day but not for long.” I was standing at her bed side and I am not sure how I stayed up. He continued to say, “This is the worst of the worst I have ever seen. This is really bad.” I realize now why my legs couldn’t collapse… because my heart did.

    At 5 a.m. The next morning we got word that her organs were in great shape to go to recipients in need and her brain was going to Harvard for research. Graham and I just stared at each other. I crawled out of her bed and held Graham’s hand. Amongst the medical jargon, beeps, and tangled lines, Graham and I just stood.

    We watched her bed be wheeled out and we followed. As Graham said days later, “no walk in life will be hard now, because we just literally walked a nightmare.” People looked at us, trying to guess what surgery she was having or what procedure we were sending her for, but we were walking a nightmare. In a small room that was pre-set for us, we sat in two chairs pressed so hard against each other we should have just shared the same seat. Our sweet Elsa Graham lay in her daddies arms. Her favorite place to be. I put my cheek to her cheek and I soaked up her strength. We cried. We took deep breaths. We thanked her. As Graham’s hand that was placed over her heart slowed in its up and down rhythm, we knew. I told her I wanted to be just like her. That I was proud beyond belief and that I will miss her so much but I’m so happy she is free. Free.

    As her last breath took, I changed forever. I changed as a mom, as a wife, as a daughter, sister and friend. I miss the old me sometimes but then I remember the new me has her in it and I feel comfort. They took her so quick (to save her organs in order to donate), but a lifetime probably would have been too quick as well. We met with the surgeons who were ready to save the lives of other children with her gifts, and we walked back down the long hallway. They escorted us to the lobby and Erin and my mom (Auntie Ro Ro and Mada) were waiting. Their strength was comforting.

    Graham and I looked at each other, I think to make sure the other one was still breathing. We just lost our daughter. I outlived my child. The sadness is so deep it enters a new core.

    I worry that I’m too sad, I worry when I’m not sad enough.

    …. It has been eight weeks since she has gained her wings and set free. I get up every morning I put a smile on and if you saw me in the grocery store…you would never know that just eight weeks earlier I held my 22 month old baby for her last breath. You would never know I talk to neuropathologists from Harvard on the phone every week, and look forward to it because they talk like Elsa is their patient and it makes me feel like she is alive.

    Pain is not always staying in bed, crying all day or living in a white padded room. Pain can look very normal. Sometimes that is the worst pain their is.

    Be kind. You may not be aware of the pain behind someone’s “smile".

  2. Little Scarlett Carter was just eight days only when she began suffering seizures. Now the three-year-old suffers up to 100 each day.

    And the risk of death from one of these seizures is so great, the three-year-old even sleeps on top of her mother, Yasmin Carter, every night. She does this so that when a seizure happens, her mum is right there to treat her.

    The toddler suffers from a rare condition called Dravet syndrome, which is a form of epilespy which begins in infancy. The seizures can last for hours, with the longest Scarlett has suffered lasting for 26 hours.

    Ms Carter, 40, who lives in Brisbane, Queensland, told Daily Mail Australia that she lives with the constant fear that one of these seizures will take her daughter away from her forever.

    ‘I sleep with a medication called Midazolam in my pyjamas every night so all her emergency equipment is with me and ready to go if she has a seizure during her sleep,’ Ms Carter said.

    ‘She could die suddenly in her sleep because it’s quite common as she's more fragile and at greater risk than any other children. You don’t know when that final seizure is going to take your child’s life.

    Scarlett also suffers from a sleeping disorder caused by her condition which means some nights she sleeps for as little as three hours.

    Ms Carter says she feels 'completely helpless' as she struggles to deal with her daughter's condition...

    One of Scarlett’s seizures occurred early August when her mother was driving along the Bruce Highway. When the seizure became increasingly violent her mother was forced to treat her on the side of the road in the pouring rain for 40 minutes.

    'There was not enough room to put her in the recovery position and perform an emergency procedures on her.

    ‘She remained there [on the side of the road] for 40 minutes and not only was she suffering a seizure, but was also soaking wet.

    During another seizure, Scarlett actually managed to break her mother's nose..

    The syndrome means she suffers eight different types of seizure every day.

    ‘She may not have all of this on a daily basis, but she may have some of them of up to 100 times a day,' Ms Carter said.

    ‘When she goes into the non-convulsive status seizure – the doctors need to put her in an induced coma. Her last major seizure was four hours before they could control it but she continued to have seizures for another 22 hours while in a medically induced coma,' Ms Carter said.

    ‘I thought my baby was going to die – we were told to bring her siblings in to say goodbye to her...

    ‘With Dravet syndrome, you put your baby to sleep or you let your baby play in front of you and you don’t know if that’s going to be the last second you see them alive.

    ‘Every single second of every single day may be her last – so every second is completely precious. And there’s no cure – they can’t cure it.

    ‘She can do a beautiful dance and say a few words like 'mummy' but when she gets extremely tired - she has seizures and then she forgets how to dance or talk and we have to teach her how all over again - Her mind goes back to a newborn baby - similar to people with dementia.'..Dravet children will also develop behavioural problems similar to autism - Scarlett now needs to be seated separately from her sisters as she may be violent at times and can cause them harm.

    ‘We can only give her soft toys now because she can fly into rages and she can cause lots and lots of damage.'

    'She’s had seizures where, my two older daughters and I have an emergency protocol – the three of us work together. It’s an incredible family that we’ve established because it's me and my two older girls – we protect her 24 hours a day.

    'So if 'm not with Scully, because I’m taking a shower, one of my twins would be with her. She can never be left alone.'

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