Putting your daughter through puberty?

Sam Carlise is a journalist and mother of a beautiful 11 year old daughter called Elvi. Sam gives us a glimpse into her life and tells us about why she’s supporting this years Jeans for Genes day.

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This year my ex-husband and I had to decide whether to put our daughter through puberty.

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Sam and Elvi

We were in a brightly-lit corner room of Great Ormond Street Hospital with an exuberant Spanish doctor whose thick accent meant I kept asking her to repeat words like ‘ovary’ and ‘period’. My ex squirmed.

Elvi wasn’t supposed to live past the age of two, she has severe learning and physical disabilities, so every year, every milestone decision like this is a blessing.Our 11-year-old daughter, Elvi, jumped up and down in her seat delighted to spend time with Mummy and Daddy together, mentally incapable of understanding the strange conversation.

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The answer is our genes.
In that room I found myself wondering how two completely normal parents had got here, playing God.

Everyone carries a set of genes they pass on to their children, the building blocks that make them who they are.

Sometimes those genes have a defect and the child inherits a genetic disorder.

There are over 6,000 different disorders varying in severity and more are being discovered all the time. David Cameron’s son Ivan had a genetic disorder, Ohtahara Syndrome, Coleen Rooney’s sister Rosie had Rett Syndrome, Katie Price’s son Harvey has Prader Willi.

Genetic disorders and the health issues they bring are the biggest killer of British children under 14.

In our case we gave Elvi Rhyzomelic Chondrodysplasia Punctata (RCDP). Unwittingly we both carried a defect in our Pex 7 genes that meant when we created a child she had dwarfism, cataracts, severe learning difficulties, and was unlikely ever to walk.

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Great Ormond Street experts are baffled by RCDP, they told us: “Elvi is writing her own story, we don’t know how it will end.”

There was a one in 400,000 chance of us having this baby. We think their maths was wrong. So far, through sites like Netmums and Facebook, we’ve met just seven other British families with a child who has, or had RCDP – three of those have passed away.

Elvi is the oldest surviving child but meeting each of those families has made us feel less isolated, scared and alone.

Over the years we’ve felt let down by endless health and social care professionals because few people know how to deal with such a rare condition and because the system still fails severely disabled children. It took us, two journalists, two years to find a proper diagnosis.

Then, you have to fight to achieve anything for your child – a wheelchair, the right school, occupational therapy, everything.

The Jeans For Genes charity asked me to assist set up a sister charity Genetic Disorders UK. Funded by Jeans For Genes, GDUK’s website help parents understand their child’s diagnosis, and find the right emotional and practical support to cope. I have been honored to share my experience, frustrations and joys at being Elvi’s mum.

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I am on the grant panel for Jeans For Genes. I see at first hand where the money raised on Jeans For Genes Day goes, for example, assisting smaller support groups have an annual conference so the parents, children and specialists can meet under one roof. Sometimes it’s something as simple as paying for play or feeding equipment.

Friday 20th September is Jeans For Genes Day where you can pay a pound to wear jeans for a day to show your support. Whether it’s a group of mums, a group of nursery play assistants or solicitors, all denim makes a difference to thousands of children.

We decided against medication for puberty. Despite the odds we want Elvi to have a normal a life as possible.

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To support Jeans for Genes visit http://www.jeansforgenesday.org Take a look at the website http://www.geneticdisordersuk.org that Sam has helped to set up. 

About The Netmums Blog

The Netmums Blog brings you a behind the scenes look at Netmums, as well as some fabulous guest bloggers and an up to date look at what's new on our Parent Bloggers Network.
This entry was posted in campaign, Charity, motherhood, Mums and tagged , , . Bookmark the permalink.

7 Responses to Putting your daughter through puberty?

  1. Goodness what an incredibly difficult decision to have to make. And what a fabulous little fighter she must be x

  2. thesoupdragonsays says:

    My son will be wearing Jeans this week to school, and its lovely to see where the money will be going, and that it helps.

  3. More articles like this need to be put out there. The more we can talk about these issues, the more parents like Sam and her ex-husband will feel less isolated and others more aware of genetic disorders and the like. My children will be wearing their jeans and proudly donating to the charity.

  4. KentMum says:

    Thanks for sharing your story and adding a very personal tough to J4G day. We will wear our jeans with pride on Friday x

  5. Mish says:

    My daughter has Alpha 1 antripsin, a genetic disorder. I welcome J4G day, as it raises much needed money & brings awareness to genetic disorders.

  6. Mayfair Mum says:

    Little Chap’s school run Jeans for Genes Day every year. Thank you for sharing your story and the pictures of your beautiful daughter. I will be better able to explain it all to him now that I know more about where the money is going.

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