Can you spare £2 for the Joshua Deeth Foundation Christmas Appeal?

In November 2009, Joshua, the lovely 14 week old son of my friends Nicola and Stephen, passed away not long after he was diagnosed with a rare neurological disorder, Pontocerebellar Hypoplasia Type 1.

They set up the Joshua Deeth Foundation in his memory and since then have raised thousands of pounds to go towards research into this condition and for information and support to families affected by all six types of Pontocerebellar Hypoplasia.

For their Christmas Appeal, they are asking people to donate £2 by texting TJDF99 £2 to 70070. Please give if you can - and please help me publicise and raise awareness of this condition and the Foundation. I know Nicola and Stephen will appreciate every penny raised for a very worthwhile cause.

You really need a Joshie Bear

How cute is this little guy? And not only is he cute, he has a wee tag round his neck saying "Please give me lots of love and cuddles." And he is so, so soft and snuggly.

This is Joshie bear, being sold in aid of the Joshua Deeth Foundation, which I've written about before. It's been set up in memory of my friend Nicola's second son, who passed away last November from an extremely rare neurological condition, Ponto-Cerebellar Hypoplasia Type 1. Nicola and her husband Stephen want to raise money for research, and to help other families affected by such rare conditions.

If you want to buy a Joshie bear for yourself or for any young child you know, you can do so here.

Joshua Deeth Foundation Coffee morning in Crieff tomorrow

If you're in Crieff tomorrow, Saturday 10th July, please spare some time to pop along to a coffee morning to raise funds for the Joshua Deeth Foundation which is being held from 10 am-12 noon at St Fillan's Church Hall, Ford Road, Crieff. See here for map.

Joshua Deeth is the son of my friends Nicola and Stephen. He passed away last November at the age of just 3 months from a very rare neurolgical condition, Ponto-Cerebellar Hypoplasia Type 1. Nicola and Stephen set up the Joshua Deeth Foundation in his memory to raise money to fund research and help other families affected by rare neurological diseases.

In May the Foundation was formally launched at a spectacular ceilidh in Crieff. Since then, they have raised over £15000. Recently my friend Martin, Joshua's uncle, along with Stephen and other friends and family walked the West Highland Way.

Tomorrow's coffee morning will be great fun, with baking, and bric a brac and face painting for the kids while raising money for an excellent cause. Please pop in and say hello. If you can't be there, please show your support by joining the Foundation's Facebook page.

Rare Disease Day 2010 Part 1 - Pontocerebellar Hypoplasia Type 1 and the Joshua Deeth Foundation

Today is Rare Disease Day, a day to raise awareness of uncommon diseases and to ensure that there is enough knowledge of and support for them within healthcare systems across the world.

This year's event has 4 main messages:

* Rare disease research should rightly be considered an important area of research
* Rare disease research needs to be better funded
* It is important for patients and researchers to work in partnership as people living with rare diseases have experience and knowledge crucial to the research agenda
* Development of treatments and therapies for rare diseases remains insufficient

Late last year I wrote about how my friends Nicola and Stephen had lost their lovely baby son Joshua to a very rare brain disease, Pontocerebellar Hypoplasia Type 1. I told how they had set up The Joshua Deeth Foundation in his memory with the aim of supporting other parents and funding research into the condition.

Since then, they've organised a ceilidh to launch the fundraising effort which will take place in Crieff on May 7th and which sold out in 4 days. Other events are planned over the next few months.

Unfortunately this condition is invariably fatal at present, but in the future, if it's researched, it may be possible to cure, prevent or slow it down.

Nicola and Stephen also want to find some way of supporting other parents whose babies are born with this or similar diseases. That sort of contact, the information you can get from someone who's been through the same circumstances as you have can be invaluable.

It's hard enough when your child is diagnosed with any illness - but when it's one that nobody has heard off, it makes life even more difficult.

There's an event at the Scottish Parliament on Tuesday, 2nd March to mark Rare Disease Day, which Christine Grahame MSP is hosting. I've contacted some MSPs on Nicola and Stephen's behalf and with their blessing to ask them to see if they make the specialists and charities who will be there aware of Joshua's foundation and Pontocerebellar Hypoplasia Type 1. I hope that that will spark some useful and mutual help for them.

The Joshua Deeth Foundation – honouring a much loved baby son

When you first become a parent, it’s a daunting experience, no matter how much you’ve always dreamed of it. How on earth do you meet the needs of this small person? Thankfully, you come into contact with others in much the same boat and you can help each other chart a path through those challenging early years of raising children. It’s quite a bonding experience and I know that the people I shared those special years with will be friends for life.

When Anna was small, I met a lovely group of other mums at a local toddler group and we spent a lot of time together. Although some have moved away and we don’t see each other so often now, time and distance don’t really seem to matter for our children as much as for us. Louise is one of those special mums. She’s pretty much on the same page as I am with the attachment parenting stuff, except she’s better at it. She now lives in Crieff and has 4 lovely little girls. Over the years, I got to meet her fantastic, close family, including her younger twin sisters, Nicola and Emma, both of whom have become loving mothers themselves.

Nicola had her first son Charlie in 2007, and a wee darling he is, too. In August this year, her second son, Joshua was born. On 22 November, sadly he passed away, having just been diagnosed with an extremely rare neurological condition, Pontocerebellar Hypoplasia Type 1. Nicola’s husband Stephen eloquently tells Joshua’s story here.

I can’t imagine a greater ordeal than Nicola and Stephen have been through and I have so much respect and admiration for the way they are dealing with their devastating loss. In amongst the pain they are feeling, they’ve found the energy and motivation to want to help others in the same situation. They have set up the Joshua Deeth Foundation, to honour the life of their son, to raise awareness of his and other rare neurological conditions and to support other parents. Nicola spoke to the Press and Journal and the Ross-Shire Journal the other day.

You might remember earlier this year that I wrote about Amy and Friends, a charity set up by Jayne Hughes to help others with her daughter’s rare condition, Cockayne Syndrome. In a relatively short space of time, the work of Amy and Friends has provided lots of help and support to other parents, as well as retreats for the children, but, crucially, has brought together medical professionals across the globe and given out information about new treatments that are being developed.

When Jayne’s daughter Amy was diagnosed with Cockayne Syndrome, there was literally no information available for her. Her work has ensured that there is somewhere for parents to turn, a source of light when they’re scrabbling around in the dark, numb and shocked.

The point of this post is to give Nicola and Stephen support in publicising the Joshua Deeth Foundation. If you’re reading this and you can think of someone they can help, or give them any information to enable them to help others, please get in touch. Please also spread the word by sharing on Facebook or Twitter or in any other way you can think of - you never know when it might reach someone who can either help or needs help.