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Neurofibromatosis 1&2

(20 Posts)
Theonlyoneiknow Sat 27-Jul-13 22:45:49

I have signed the petition.

DD, DS and myself have had an agonising six month wait for genetic test results for NF1. DD was referred as had a suspiciously large number of cafe au lait marks (as do I and DS). They tested myself first and I came back positive for Legius syndrome, not NF1 (I have 10 cafe au lait spots, armpit and groin freckles and several lipomas). However in my six month wait I read everything I could and was on the main forum trying to learn about NF1.

There is an active group on the inspire website, please link your petition there too. Xx

Emmsy1 Sat 27-Jul-13 00:40:20

I've just signed the petition
Stay strong.x

Daykins Sat 29-Jun-13 20:56:27

If your friend was willing could she email their mp? That's what we have been doing. They could tell them how hard it is to deal with and frustrating with lack of funding. The more people that write the better.

Daykins Sat 29-Jun-13 20:53:40

I am in contact with them, they are more geared up over in USA. Thanks for your support.

Daykins Sat 29-Jun-13 20:52:58

I am in contact with them, they are more geared up over in USA. Thanks for your support.

Daykins Sat 29-Jun-13 20:51:38

I'm hopeless n fb, I have a page so I could pass it on that way if you want to PMS me? Thank you for your support it is appreciated.

Madondogs Fri 28-Jun-13 00:36:55

Signed, good luck to all involved.

twintwo Thu 27-Jun-13 21:12:58

Have signed it too, I have a friend with nf also one of her children is affected too. It is sad to see and hear about all she has gone through and people's lack of understanding about this awful condition.

cocolepew Thu 27-Jun-13 21:10:08

I have the Children's Tumour Foundation as a 'like' on FB. It's the American NF charity. It's good for info.

cocolepew Thu 27-Jun-13 21:04:39

Signed and shared on Facebook.

DH and DD2 both have NF1.

shortie3 Thu 27-Jun-13 20:54:48

Daykins,
I am pm'd you details about the clinical psychologist on the NF at Guys. I am sorry your DD is not well and especially not happy at the moment. It is a constant challenge. The are 2 specialist sites for NF, at Guy's and in Manchester whilst GOSH have just set up a clinic so slowly funds are trickling in. I think due the unpredictable nature of the condition and lack of knowledge, it is hard to get any look-in. In my morbid moments, I wish some celebrity or their family had it since it needs that level of coverage.
I will forward your petition to everyone I know but you are right, it will be hard to get that number of signatures. Great idea about pestering and will look for contact details over the weekend.

Daykins Thu 27-Jun-13 19:43:57

Just last week I asked Ella's pediatrician if she could be referred to Prof Ferner at Guys (we are at Bham Children's) but he said it would be too much for her at the moment as she has 3 brain tumours and lots of hospital appointments. However, I would appreciate that info as I find her behaviour quite challenging. I don't think we will get 100,000 signatures so I am getting as many people as possible to write to Jeremy Hunt Health minister. Let's inundate him and keep pestering, NF research funds are small and getting smaller how can we compete with large charities like Cancer Research UK?

shortie3 Thu 27-Jun-13 13:50:21

Daykins,
Thank you for starting this. My DS2 who is 3.5, has NF1 which was spontaneous. It is an condition that is not widely known or recognised by many medical profession. It took us 2 years to be diagnosed and it was a constant battle to get through to the correct medical teams. We were lucky since we had a unrelated large growth which took us to GOSH hospital and a willing consultant who helped us get diagnosed.

We have just joined a series of educational events at Guy's Hospital which include psychologists discussing how to manage your child's behavior and relationships which I found insightful. Let me know if you would details of these events.

Daykins Thu 27-Jun-13 13:31:05

Thank you for your support, I am new to mumsnet so I will have to figure out his to start a 'thread'. I feel your frustration, money is I'm sorry to say the root to all things. Good luck with your career, we have some amazing people in medicine in this country, our Govt should be more supportive.

Daykins Thu 27-Jun-13 13:26:43

Hi DH sad to hear of your brother. To be fair not many treatments available other than chemo for the more serious tumours. Neuro Foundation is the charity for NF1&2 but has poor donations. I asked for 300 info leaflets to distribute but they could not afford this many. What hope has a small charity when up against others like Cancer Research UK. Here is their link http://www.nfauk.org. All my family and friends are writing to their MPs to rattle a few cages.

Thank you for helping it is appreciated, let's hope there
are better outcomes for the next generation.

Jaffalemon Wed 26-Jun-13 20:20:49

Signed and Goodluck x

LEMisdisappointed Wed 26-Jun-13 20:19:00

Also, have you got a facebook page? Id happily share it x

LEMisdisappointed Wed 26-Jun-13 20:15:34

I have signed too - i think if you start a thread in appeals/media you may get more traffic, I really hope you get the attention it so deserves. It is so very frustrating, I am a biologist and would dearly love to work in research again however I can't find employment, I have a fellowship pretty much lined up but they are unable to secure funding - it is beyond frustrating. I would have been working on a gene involved in breast cancer, yet still there is no money to fund the work angry Money to secure works of art, buy arms etc, don't get me started............arggghhhhh

The only thing i would say is that research that takes place in the states will benefit everyone so keep hoping, genetics is a fast moving field and gene therapy is now available for CF.

Very best of luck xxx

Elibean Wed 26-Jun-13 20:05:36

I will sign the petition, Daykins. dh's brother had NF, but no one knew until he sadly was one of the unlucky ones who got cancer in midlife - in fact, even then they didn't figure it out straight away. It was a long time ago.

Hopefully treatment and management are better now, and your 9 year old will be one of the (more likely, I believe) lucky ones who don't get seriously ill with it. I have a 9 year old too, and hear you on the heartbreak - I can only imagine.

Please tell your lovely child that dh's brother had many, many girlfriends - but none were lucky enough to pin him down to marriage wink

Daykins Wed 26-Jun-13 19:24:21

Neurofibromatosis is a condition that effects 1 in 3000 people, basically a child is born everyday with this. It can be hereditary or in my daughter's case just sheer bad luck. NF1&2 involves the uncontrolled growth of tumours along the nervous system, which can result in terrible disfigurement, deformity, deafness, blindness, brain tumours, cancer and death. NF is the most common neurological disorder caused by a single gene and is more common than muscular dystrophy and cystic fibrosis combined.

Sufferers can differ tremendously, family members who all carry the defective gene can all have different variations of it. Thus I think this is why it is so hard to find a definitive cure/treatment

As this condition has such little publicity funding into research is poor. As most research seems to be happening in The States, I am trying to raise awareness by starting an e petition to get the matter debated in parliament, for this to happen I need 100000 signatures. Just think at least 25000 people in the UK have this condition, it might be your neighbour, colleague or family member.

It breaks my heart to hear my 9 year old say "Who will want to marry me with this?".

Follow the link for e petition. Thank you

epetitions.direct.gov.uk/petitions/48586

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