Sparks Charity

Sparks is a leading medical research charity dedicated to funding pioneering research into wide ranging conditions and disabilities affecting babies, children and mums-to-be. Our mission is to have a practical and positive effect on the everyday lives of chldren by investing in high quality medical research.
Jan 8, 2013

Adapting our lives for Batten Disease

Laura and her mum Ellen
Laura and her mum Ellen

Laura has Batten disease, a very rare neurodegenerative disease. Children are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. The
condition affects approximately 200 – 250 children in the UK with at least 10 new children being diagnosed each year. Laura’s mum Ellen explains how juvenile Batten disease has changed their lives.

 

“Laura is a bright, beautiful, kind girl who is fiercely independent. She’s everything I could ever have hoped for in a daughter.

 

When Laura was six years old we noticed that she was holding books closer to her eyes and was edging nearer to the television. We took Laura for a check up at the opticians, which lead to a visit to our local hospital and an initial diagnosis of bilateral macular dystrophy. We were told this would mean a slight decline in her vision which would then stabilise for many years with partial vision. We were told it might be another 10 to 20 years before Laura would suffer any further decline.

 

We re-organised our home and Laura’s schooling to adapt to Laura’s partial sight. But 18 months later she had no useful vision left at all. We changed everything again and started home-schooling Laura. She began achieving more than we could have ever expected and we believed Laura would live a very fulfilling life as a blind person.

 

One day Laura had an epileptic fit but we were told that it was not related to her vision, that it was very common for children to have one-off seizures.

 

In the November of that year I made an appointment for Laura to see a leading consultant at Moorfields Eye Hospital. I nearly didn’t mention the epileptic seizure that Laura had suffered 18 months earlier as I had almost entirely dismissed this from my mind.

 

At the mention of the epileptic seizure the consultant’s demeanour changed and in that instant I knew that we were facing the worst sort of news. He made an immediate appointment with the Paediatric Neurologist upstairs and I was offered a quiet room and a cup of tea. I could not stop the tears flowing, though I tried to shield my dismay from Laura. Laura needed a blood sample and we had a wait of six weeks before we got the result. My husband David and I travelled back alone to the hospital in January 2009 and were given the diagnosis of juvenile Batten disease. Laura was nine years old.”

 

Family life

“Life before Batten disease seems like a different world to me now. Every aspect of our family life has changed. Almost every day involves heartache of some sort. The unrelenting pain of this situation has definitely taken its toll on us. On the more positive side, we have all become much better at handling this constant pressure. One of my favourite quotes is, ‘Life shouldn’t be spent waiting for the storm to pass, but learning to dance in the rain’. We are now very good at recognising and seizing every opportunity to dance!

 

When we explained Batten disease to Laura we described it as her ‘naughty gene’ and she knows that it is this naughty gene that has taken away her eyesight, which causes her to have epileptic seizures and makes her clumsy and forgetful.

 

Laura is still exactly the same person. Her circumstances continue to become increasingly difficult as this cruel disease closes more and more doors for her. The exclusion she encounters every day is heart breaking. She does cry quite often, especially when facing rejection. Having said that, I could not be more proud of Laura for the way she copes. She never complains and always makes the very most of any opportunity she is given.”

 

Living with Batten disease today

“Laura now spends her week away at school in Worcester but when she is home she enjoys listening to audio books, re-enacting these books and playing cards or walking the dog. When Laura is at home I spend all my time caring for her. It’s relentless and exhausting and trying to find meaningful activities to fill Laura’s day is one of my biggest challenges.

 

My hope is that in my lifetime, we will find a cure for Batten disease in order to save other children from suffering like my own daughter has. I am really grateful to Sparks for funding a research project that looks at therapies to treat juvenile Batten disease. This project offers real hope of moving us significantly closer to finding an effective treatment. Sparks’ research into Batten disease is inspiring and we really believe it can make a difference and provide the hope that is needed for children like Laura.”

Links:

Jan 8, 2013

Adapting our lives for Batten Disease

Laura and her mum Ellen
Laura and her mum Ellen

Laura has Batten disease, a very rare neurodegenerative disease. Children are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. The condition affects approximately 200 – 250 children in the UK with at least 10 new children being diagnosed each year. Laura’s mum Ellen explains how juvenile Batten disease has changed their lives.

“Laura is a bright, beautiful, kind girl who is fiercely independent. She’s everything I could ever have hoped for in a daughter.

When Laura was six years old we noticed that she was holding books closer to her eyes and was edging nearer to the television. We took Laura for a check up at the opticians, which lead to a visit to our local hospital and an
initial diagnosis of bilateral macular dystrophy. We were told this would mean a slight decline in her vision which would then stabilise for many years with partial vision. We were told it might be another 10 to 20 years before Laura
would suffer any further decline.

We re-organised our home and Laura’s schooling to adapt to Laura’s partial sight. But 18 months later she had no useful vision left at all. We changed everything again and started home-schooling Laura. She began achieving
more than we could have ever expected and we believed Laura would live a very fulfilling life as a blind person.

One day Laura had an epileptic fit but we were told that it was not related to her vision, that it was very common for children to have one-off seizures.

In the November of that year I made an appointment for Laura to see a leading consultant at Moorfields Eye Hospital. I nearly didn’t mention the epileptic seizure that Laura had suffered 18 months earlier as I had almost
entirely dismissed this from my mind.

At the mention of the epileptic seizure the consultant’s demeanour changed and in that instant I knew that we were facing the worst sort of news. He made an immediate appointment with the Paediatric Neurologist upstairs and I
was offered a quiet room and a cup of tea. I could not stop the tears flowing, though I tried to shield my dismay from Laura. Laura needed a blood sample and we had a wait of six weeks before we got the result. My husband David and I travelled back alone to the hospital in January 2009 and were given the diagnosis of juvenile Batten disease. Laura was nine years old.”

Family life
“Life before Batten disease seems like a different world to me now. Every aspect of our family life has changed. Almost every day involves heartache of some sort. The unrelenting pain of this situation has definitely taken its toll on us. On the more positive side, we have all become much better at handling this constant pressure. One of my favourite quotes is, ‘Life shouldn’t be spent waiting for the storm to pass, but learning to dance in the rain’. We are now very good at recognising and seizing every opportunity to dance!

When we explained Batten disease to Laura we described it as her ‘naughty gene’ and she knows that it is this naughty gene that has taken away her eyesight, which causes her to have epileptic seizures and makes her clumsy
and forgetful.

Laura is still exactly the same person. Her circumstances continue to become increasingly difficult as this cruel disease closes more and more doors for her. The exclusion she encounters every day is heart breaking. She does cry quite often, especially when facing rejection. Having said that, I could not be more proud of Laura for the way she copes. She never complains and always makes the very most of any opportunity she is given.”

Living with Batten disease today
“Laura now spends her week away at school in Worcester but when she is home she enjoys listening to audio books, re-enacting these books and playing cards or walking the dog. When Laura is at home I spend all my time caring for her. It’s relentless and exhausting and trying to find meaningful activities to fill Laura’s day is one of my biggest challenges.

My hope is that in my lifetime, we will find a cure for Batten disease in order to save other children from suffering like my own daughter has. I am really grateful to Sparks for funding a research project that looks at therapies to treat juvenile Batten disease. This project offers real hope of moving us significantly closer to finding an effective treatment. Sparks’ research into Batten disease is inspiring and we really believe it can make a difference and provide the hope that is needed for children like Laura.”

Links:

Sep 28, 2012

Losing our twins

Michelle with Poppy and Henry
Michelle with Poppy and Henry

Michelle  gave birth to twins at just 24 weeks. Sadly they were born so prematurely that they died.

"My husband and I were trying to get pregnant for a long time.  In the end, we discovered that the only way we could have a baby was through IVF.  The first round didn’t work but the second time I was told that I was pregnant with twins. I’m not very tall so with twins I was huge and felt quite uncomfortable. A day before I reached 24 weeks I went into labour.

I gave birth to a little boy and girl. The boy was born alive but his water had suffocated my little girl and she was stillborn. As he was under 24 weeks, the hospital was unable to resuscitate him. I only really remember bits and pieces of this, I was shell-shocked and couldn’t process anything, especially not the hospital staff asking me to sign a 'Do not resuscitate' order.

We kept trying

Six months later we tried again but I didn’t get pregnant, my body had gone through so much that the doctors thought it was too distressed to take on another pregnancy. Four months later we tried again but this time I had an ectopic pregnancy and miscarried. A few months later we gave the IVF one last shot. It had cost us such a lot and we decided we couldn’t do it again.

This time round I fell pregnant. I was pregnant with twins again, which terrified me in one respect but in another made me think that my twins had come back to me. Everyone around me was incredibly scared and some people couldn’t even talk to me because they didn’t know what to say, that was something that I found really difficult.

Henry and Poppy arrive

I went into labour while watching Desperate Housewives and Poppy and Henry were delivered by an emergency caesarean, weighing 4lb 12oz and 4lb 15oz. They were healthy and well but because they weighed less than 5lbs they were taken to the Special Care Baby Unit.

Henry and Poppy are now 2-and-a-half years old and those 2-and-a-half years have been the best years of my life. But I will never forget my first twins. If I regret anything from that time, it is that I didn’t name them.

I wanted to share my story with Sparks to give strength to others who have had similar experiences and to highlight the work that Sparks is doing to change the outcome for babies born prematurely. People don’t realise how many twins are born prematurely and why this happens.  The work that Sparks does continuously helps parents who have had a premature baby and also works to understand why it happens and how it can be prevented. Sparks is a truly wonderful charity, devoted to children and their families."

Links:

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