So where's the strategy?

My daughter Isobelle has already left her reaction to NF but now its my go.
I have NF had it since I remember but its not really been that bad I have had 5 major lumps taken out 3 on the brain and 1 large on my back and one small on my arm.
When I found out I was pregnant I did not think of NF and no one asked.
My little girl was born at 25 weeks after all the troubles you havr with a early baby noone spoke about NF till she was about a year old and she kept fitting whrn we saw the doctor I knew what they were going to say I knew the sings.
Isobelle has had a really hard time with the NF, we have waited weeks at a time in hospital as they just tell us oh its because of the NF then when we get sent to see the special NF doctor she talks us through it they need these doctor’s and nurses in every hospital.
The worst time we have had was in our local hospital they said we dont dobk much about NF we will call her doctor on monday this was Friday, then they sent in 6 different doctors to see her so they could see what NF is she did not mind but when Isobelle sat down and told them how to spot NF and what it is and does I started to feel so angry that they could not even look up the basics stuff.

My 4 year old son has NF1. First in our family. He suffers from learning and behaviour problems. He has poor coordination and concentration.
We have never been able to see a NF specialist and are in waiting list for Neurologist for along time with no luck.
His last eye test was about 2 years ego . He was referred for occupational therapy, but instead I received a letter and a website address to look at to learn to work with my son.
We live in wales and I’m not sure if moving to somewhere els means more support and help.
I’m horrified. We need help. We need support. Nobody in my child school knew what NF was. Hopefully the school were supportive and my son is in learning support unit.
Please help us.

Justine thank you for sharing your story. You hit the nail on the head, early intervention in the long term with save the State hundreds of thousands of pounds. Offering little to no help will mean a life on benefits.

At 20 weeks pregnancy I was told my child has hydrocephalus and club feet….something that had not been seen together before. I was scanned every 2 weeks and told my child was highly likely going to be severely disabled. At 30 weeks I was offered a termination. I decided to continue with the pregnancy and at 38 weeks my beautiful son was born. He had hydrocephalus not in the normal range not in the abnormal range. He also had macrocephaly (one of the indicators of NF).
He did not have club feet but his feet were slightly curved. He met all his milestones just a tad behind his peers. At one years old he started fitting. I am not talking 10 or 20 minutes, he would fit for hours. Doctors always counted his birth marks (later we learnt they were café au lait marks, another indicator/criteria of Nf). No one ever discussed them with us. At 18 months after a particularly bad fit he was referred to genetics, where he was diagnosed with Nf. He is a mutation as neither myself or his father are carriers of Nf. Due to Sam’s fits we were under a paediatrician and because of this, we got an early diagnosis compared to the majority of people who have had to battle to get a diagnosis. Early intervention has benefited my son so much. we had access to therapy services for poor fine and motor co-ordination. Unfortunately there was a 18 month waiting list which wasn’t great at least eventually he received some therapy which really helped him. He had regular eye check ups until the age of 7. everything was ok till last year where during investigations for severe joint pain they found bilateral thickening of the optic nerve, optic glioma and a lesion on his brain not big enough to call a tumour. Nf is an emotional roller coaster, you never know what it is going to throw at you next as it is so variable how it affects people. We have been lucky and accessed the Nf specialist clinic in Manchester. However I have battled on many occasions for Sam to be seen for various things as communication between hospitals is pretty dire at times. Research evidence shows that early intervention improves long term outcomes. If earlier intervention does not happen the NHS will be paying for it in the future. As Nf children grow not only do they have all the physical problems to deal with it also impacts on there long-term mental health. People with Nf deserve to be diagnosed at the earliest opportunity to ensure the best long-term outcomes and recognition that it is a long-term progressive disorder.

I am 42 years old and have NF1, my daughter has NF1 as does my own mother. My maternal grandmother and maternal uncle both also had NF1. NF is one of the most common genetic conditions, yet is one of the least heard of. The prognosis of NF is so variable that we are often faced with the unknown, never knowing whether new peripheral nerve sheath tumours are going to develop and what (if any) impact this will have on our lives. In my life-time the amount we know about NF has increased; for instance the impact of neurofibromas (or peripheral nerve sheath tumours) on our experience of pain. My Nana was not so lucky, she endured years of Electric Convulsive Treatment at an inpatient psychiatric unit for ‘psychosomatic’ pain which the medical profession was convinced there was no physical explanation WRONG – a plexiform fibroma had taken over her kidneys – which may have resulted in the significant pain she was in – unfortunately we only discovered this after Nana had died. The treatment for individuals with NF is so variable; both myself, my mum and daughter have been incredibly lucky to live in Wirral. As soon as my daughter was born, I asked to be seen by a paediatrican on a regular basis. Although she did not have any signs of NF at birth, by the time of her 8 week paediatrican appointment an increasing number of cafe au lait marks were present – I already knew she had NF, but what about the parents who do not know what NF is? It is imperative for positive outcomes for children that intervention is both timely and appropriate.
My daughter is seen on a frequent basis by a consultant paediatrician within a specialist NF 1 Clinic, Dr Christine Steiger, who is responsive and sensitive to my daughter and the impact of growing up is having on her self-image. I know that I would be able to contact Dr Steiger if I had any concerns between appointments and I also know that my concerns would be listened to. I know that other families do not have the luxury of this. My family has a phenomenal GP team, and I have been able to have several small fibromas removed during minor surgery by my GP – who then referred me to our local max- fax surgical team at Wirral UIniversity Teaching Hospital (WUTH) to de-bulk an ever growing fibroma on my face. Thorough assessment (including MRI scans) ensued and I had my operation back in September 2014 – it was more complicated than first thought – yet overall the outcome has been successful.
When my daughter first attended school, I asked Rosemary Ashton (Abbott) from the neuro-foundation to speak to the staff about the possible impact of NF on her learning – I am deeply appreciative of Rosemary for her time and I know this has made a huge difference to my daughter.

In short, there needs to be more support for individuals living with NF, this includes specialist centres and local centres of excellence. Medics and nurses knowledge about NF should be better – an increased awareness of the condition can only be good. More work needs to be done to support charities such as the neuro-foundation and Funny Lumps who work tirelessly on behalf of families with NF and whose support can be invaluable. More work needs to take place to educated those assessing invidivudal’s when they are applying for disability living allowance- far too many people are turned down when this could make a significant difference to quality of life. IN conclusion, everyone with NF should be entitled to an equitable service. Excision of Fibromas should not be seen as ‘cosmetic’, rather the emotional, psychological and physical impact of NF should be considered. Living with a potentially disfiguring condition means we are subjected to the discrimination and assumptions of society – attitudes towards visible difference needs to be changed . A coherent strategy is needed.

I have had 4 surgeries on my nose and am awaiting a 5th procedure and will end up needing full reconstructive surgery due to a reoccurring fibroma, unfortunately both my children gave Nf too and iam terrified what the future holds for them as the support currently for people with Nf that don’t get to have health care at specialist centres is no existent other than from 3 charity’s with no government funding

Support in school is greatly needed by our children and a diagnosis of Nf currently does not appear enough to offer the children the added support they need.
Nf specialist advisors are amazing and should not have to be charity funded they offer great support to those with Nf and their families.
The cafe au lait marks which are one of the first signs you can pick up to diagnose Nf are also present in other conditions health visitors and gps should be more aware of this.
A lady saw my daughters cafe au lait marks and after talking to me was seen by my daughters dr and finally diagnosed with Nf at 13yrs old.

My 10 year old daughter has nf1 which has resulted in a very large tumour down one leg giving her one leg much longer than the other. We have definitely been among the lucky ones with terrific care from Manchester but we’ve had our share of blank looks and horrified expressions on hearing of her condition and seeing scan pictures of her tumour. Our hope now is with new research in the hope of avoiding excessive amounts of surgery but progress is very painfully slow.

Hi my daughter was diagnosed age 5, she is now 14. She has multiple large fibromas on the left side of her face and a optic glioma. This has disfigured her face which makes People stare where ever we go, which as you can imagine she hates. This has caused her to suffer from Anxiety, which causes time of school which makes her school work suffer. She has lack of concentration which is common with Nf but she also can not hold on to information she is giving. This causes her to fall behind her peers which she hates and takes away any little confidence she has left. Because the tumours grow on nerves this causes a lot of pain, day and night so affects day time activities and affects sleep as she can not sleep on the left side, so this leads to a very tired girl of a day time. The optic glioma has made her blind in her left eye, she has to wear a contact lens in her right eye because it is physically impossible for her to wear glasses. She has to wear a contact as her right eye is working extra to make up for her left and it is putting strain on it. What we would like is more awareness of Nf, more funding and research so we could have a cure or even something to slow or better still stop the growth of these crippling tumours that cause so much distress to people.

NF1 is long over due to be raised to the national social and political conciousness. This debilitating condition has monumental physical and emotional effects on the sufferer and their families. MPs need to engage with NF1 sufferers to gain a personal perspective and understanding of the condition and begin, at last, to represent their interests. This condition needs political representation in both Houses for research and understanding to gain momentum. NF1 suffers have too long been overlooked and it is now unacceptable to simply do nothing.

My 10 year old son has nf1 – the first in our family. The way he was diagnosed was awful. We were at hospital with him suffering constipation aged 10 months when the statistician saw his cafe au lait marks he looked horrified fetched a seiner pedestrian and some students to all have a look! They then told us he had Nf and write the full name on a scrap of paper for us to take home and look on the internet. That was the worst day of our entire lives. The whole situation was handled very badly and all due to the medical professionals not knowing enough if anything about this condition.
Over the years the support from The Neuro Foundation has been great however much more needs to be done to get early diagnosis for everybody and better training and awareness for all medical professionals. Waiting while they read from a book what to do in front of you is not very good for your confidence.
My son sees many many professionals many are amazing and do know their stuff- but sorry to say there are equally as many if not more that have no idea and we have experienced some very insensitive practice.
I have stood up and fought to get my son the support and care he is , entitled to but I shouldn’t have to it is his right.
More awareness is essential and us parents will do everything in our power to do so.

Hi I am privileged to be one of the neurofoundation specialist advisor based in the north east and covering Cumbria. This condition can be devastatingly cruel. The main part of my role is advocating for patients . Trying to ensure they are seen by the right specialist as this condition affects so many systems. Often my patients struggle to access the right support, nf1 can causes learning difficulties and poor organisational skills so my patients need the help to remember appointments and help at appointments to articulate worrying signs and symptoms. Another part of my role is to raise awareness of the learning problems children can have in school up to 80% of children can be affected but with the right support in school they can do so well. The area I cover is huge I work 3 days a week. Thank fully a year ago we managed to secure funding for another 3 day post and Rachel joined the team. We work flat out and only scratch the surface. My patients are the most wonderful people I have come across in my 25 year nursing career. We try to offer a good service but these people deserve so much more than we can currently deliver. Our region is one of the lucky ones at least we have a service! A national strategy has been long awaited and I am so hopeful that the government will rectify this. I love my job but sadly get disheartened as there is so
Much more we could do to help! The nhs hospital Rachel and I work for funds 2.5 hours of our combined 45 hours post. I haven’t spoken in detail about the medical Problems this condition causes I will let the people on this site tell you their tale.

My son alfie has nf1. He was diagnosed when he was 3. Nf1 has given him so many obstacles that he has had to overcome. He has autism, low muscle tone, cant walk long distances, behaviour problems and now has an optic glioma. I could sob for him all the things he has to contend with daily. I wish i could swap with him and take it away

Both my daughter and myself have NF1. I wasnt diagnosed until I was 31. By this time I was already pregnant.

At present my daughter is not hugely affected, the only signs are multiple cafe patches. Im one of the lucky ones, she has no problems with learning, speech or mobility.

Im shocked at the general lack of knowledge amongst healthcare professionals, many times I have had to explain the birthmarks on my daughter and what NF is.

Schools also need better educating around NF. My daughter has at least 6 appointments a year (peadiatrician X2 eye checks x2 ears x2 to help monitor her NF. The hastle I get from the school is terrible, even though I show them letters. I would rather my daughter not have to attend such appointments and miss school, it is not always possible to make them in school holidays!

I have lots of cafe patches and some tumors which I can cover up because they are on my back and stomach. I have had some removed but I really had to fight for it, I was told it was cosmetic and may have to pay for it. In fact my so called GP said “you wil just have to live with it!” Luckily the consultant I did see was a bit more understanding and removed some for me, that was 3 years ago, they havent come back. Because I was not diagnosed until the age of 31 I did not have routine checks, so Im VERY lucky that I also have not developed any severe complications.

Im scared for the future because NF is very unpredictable,but mainly for my daughter. There is not much support out there and you just have to get on with it. Although I have made some great friends through facebook which is a big help!

More research/funding/awareness is needed for NF if those who have it are to have a brighter, happier and helpful future. It is so much more common than people realise.

I was diagnosed when i was very young. I was a spontaneous mutation as far as i know!
i did have regular check ups at hospital, but neither me or my mum were ever told how this could effect me and that i could pass it on to my children. we knew about none of the dangers that could happen just told i was a lumpy bumpy person.i i had a fibroma removed when i was 15 years old from my right leg.and i had 6 removed 2013 from 3 different sites. i have one in the f ront of my neck which is not operable.
my son has had many operations to remove tumours. he has loads down his spine and neck.as i get older more fibroma are growing all over my body.
getting doctors to listen to my son when he says something is wrong just get fobbed of with your body does not act like that. when clearly it does as after years they have done mri and found out what is causing this to happen.

I was diagnosed shortly after few years ago despite the fact that I have over a 100 CALS. I also had a plexiform fibroma in my foot that was removed and also have two in my head. I was a spontaneous mutation and all the doctors I have seen have never heard of it. It saddens me and worries me that I don’t have the support there if and when needed especially if things progress and GP’S are not familiar with the symptoms. I dont know what next week or next year has in store for me or my son. It has always been a constant battle as health care professionals dismiss it as non existent and just birth marks. This is not the case at all and early diagnosis and prevention is key to provide better support and treatment

My grandson is almost 5 years old and has NF1. It has changed our lives and continues to do so.
We would never give up fighting for him , and his right to a life as full and engaging as possible.
My daughter is amazing and , despite suffering depression, has had to fight government beurocracy and red tape in order to get some support. But with little knowledge of NF , how can we expect to get the right support from anyone?
As an example: My grandson has a concave chest (NF affects long bone formation) and this is further complicated by Asthma.
We asked the authority for assistance with a larger pram but hecwas given a wheelchair! Not withstanding the fact that this affected us mentally and emotionally, it was not fit for purpose! You see a wheelchair cannot recline when he is breathless and needs to lie down. He needs to lie down so that his breathing is less restricted from his chest.
This is only a small example of the frustration that is caused on a daily basis for sufferers of NF.
Because even professionals are unaware of NF!!! So we need help to make people aware.
So ….. crack on with it and do your best …..

My daughter was diagnosed by chance at 11 months when she was seen by a pediatrician for an unrelated matter. She was born with a relatively large plexiform on her back and developed cafe au lait marks around 4 months old. I was told on separate occasions by my health visitor, a gp and a pediatrician that they were just birth marks and nothing to worry about. After the diagnosis my health visitor confessed she had never heard of nf1 and neither had the other two health visitors with whom she shares an office. How can this be possible? It’s unbelievable how often we hear this type of story even when the signs are screaming out! We feel very isolated in dealing with this condition as we had never heard of, let alone met, anyone suffering with this condition. It is only through a charity that we are slowly learning more about it and meeting with others. Even many so called medical professionals are clueless when it comes to nf1. Raising awareness, funding and research for nf1 is vital for those dealing with it now and for future generations.

Sam Pomfret here again. I forgot to say in my last post that I am 13 years old & have been diagnosed with Nf1 since I was 18 months old. I have to have regular eye clinic checks at the hospital & a paediatric check every year. I have had 2 MRI scans to keep a check on my optic nerves. My learning needs mean that teachers at school through the years have not totally understand my difficulties. Please, please help us and please also support our enjoyment for funding things like adventure camps. We get alot out of knowing we aren’t alone, but still need other people’s awareness of Nf.

My name us Sam Pomfret. I have NF1 and the camp was great for me as I made good friends & good memories. I find it annoying that NF is not well known it is good to meet people who understand what it’s like to live with the problems & medical needs of having Nf 1.

I had never heard of this condition until my partner and son was diagnosed shortly after his birth. Fortunately my son has not developed any complications yet but it’s the unknown which scares me. We don’t know how he will be affected or what the future holds we just hope that one day there will be a cure. Early recognition of symptoms is essential to providing the right support and treatment but sadly the lack of knowledge of GP’S and other health professionals is shocking. There knowledge or familiarity of the condition is minimal to nothing and I often feel as though I am educating those that are meant to be looking after us. Considering how common this condition is I am shocked as to how little people know about it. If we can’t have faith in our own health care system what hope do we have. Awareness and education is key and I hope that together we can find a cure and provide a better future for us NF sufferers

Neurofibromatosis is a condition that includes symptoms such as lumps on the outside (NF1) or on the inside (NF2), learning difficulties, short statures, etc. There are a few downsides to NF, like itchiness, which is annoying! However, there are a few upsides aswell, like going to camps and meeting friends.

i have had neurofibromatosis for pretty much all of my life since i was a young-UN. At Infant and Junior school my teachers did not know or understand about my nf or about the problems i have as a part of the nf, So i got no support from them. When i move to secondary school i was the first person in the school to have nf so they didn’t know much but they worked out ways to help me in lessons and exams, so in lessons i start off with an alpha-smart but then was given a net-book, i was also given a Dictaphone to help me when i needed to record homework and lessons to play back at a later date.

I had never really told my friends about my condition until i had my brain op. My friends at secondary school and college are very supportive. I did a project for my GCSE where i made 2 information booklet for young people with 2 different age groups as i adapted the information so they would under stand more about nf.

It would help a lot if there was information out there which was suitable for young people so they can understand more about nf. Also if there is more support as although i’m 18 and have had nf all my life i still don’t know much about it.

A camp which was organised by children with tumors was very useful, i told about my my neuro adviser and i made friends with people who have the same condition and we and relate to each other. it would be useful if their could be meet up’s where the young people and their siblings could meet up and talk to each other so they know how it affects each other.

What is life Like with NF?

Life is ok some times with NF you go on camps, make new friends that have it and more it can good havering NF

It can be bad because you have loss of operations, loss of hospital appointment and people how don’t have it don’t understand how we feel. it effects every one who has it Differently. People don’t understand what it’s like . People don’t understand what it like to have NF

I can remember as a small boy in the late 50’s being told by my mother that I NF (in those days it was referred to as Von Recklinhouse disease) I was lucky as my late mother was a Occupational Therapists and also had a mild form of it in those days there was not the support groups that there are today. I was bullied at school. My father was Vicar of a large housing estate on the edge of Bristol. My parents were very supportive. I was also diagnosed with Eczema which I still have but not as bad as was in my childhood If I was a child today I would almost certainly be diagnosed with Learning Difficulties and get the necessary support I have poor eyesight and have no night sight so I don’t go out when it gets dark also have hearing problems and have hearing aids in both ears I also suffer from Depression and IBS and Asthma I try not to let my NF get me down, but sometimes it does I have a fantastic supportive family who ring me most days to make sure that I am OK

It just goes to show how little is known about NF if this is the 1st time its been highlighted for debate. And i bet if we did a poll of our polititians about what NF is , it would be a poor outcome … Very poor !!
But this is to be expected as many Health Professionals (and i include myself in that) have no idea what NF is or can identify any traits related to the diagnosis.
So the plan is :to create more awareness and build the profile of NF. This would then alert GP’s , Schools, Councils ect. to the diverse symptomology of the condition and facilitate earlier diagnosis. Hopefully more support networks, funding and research will follow.
I ask the Government to consider the current lack of support, funding, research, ect but also the isolation that most carers feel once diagnosis is made. This is a common problem and needs addressing asap.

My son has nf1, he is 2 and a half so we’re lucky to have his diagnoses early. He is autistic, has learning disabilities, pulmonary stenosis, nf that has caused optic glioma (he is being closely monitored to see if the tumors grow but chemo may be needed as treatment at some point. I also suspect the start of scoliosis as his right side of his chest plate sticks out a bit and seems to be getting bigger :-( he is a very special, unique little boy and I hope that further research can help all our nf sufferers.

meeting others with this condition, really helped me with my confidence. as I felt that was no longer alone. am so thankful for what lord Phil Hunt & lord Steve Bassam are doing to get more help with this condition.

I’m 50 now. I was the first with Nf in my family. Its called a “spontaneous mutation”. I didnt know until a diagnosis at age 23. A GP I saw when I was 15 missed it. He said I had acne. I even knew it wasn’t that. But he said it’ll go by my 20s. No it didn’t, that’s when I saw a dermatologist. 50% chance of it passing to next generation, and it did. There are some people who can have NF but very mild, then find out when a child gets a diagnoses, and maybe the NF is much more severe. Even Nf twins can have it differently. My son, 20, has a complication, and is disfigured facially. Dyspraxia too (once was known as clumsy child syndrome) Looking back over my childhood I can see dyspraxia there too. I have many fibromatomas. Even on my brain, to flattened ones on the soles of my feet. I don’t now what there is internally. There are ones growing on organs in body which may lead on to more complications. We need publicity for Neurofibromatosis (Nf) Everyone should have heard about it. Its the most common dominant gene disorder. I don’t even see celebs on quiz show specials raising awareness. people who hear of it, either have it, or know someone. Nf can lead to many many other different conditions, so its not only Nf to cope with. All of us with Nf, we don’t now what will happen as we go through life. Its a progressive condition. Living with lots of disfiguring tumours outside, and inside with complications of serious illnesses a chance of happening. Then with learning disabilities for many, and coping with disfigurement, having “lumps” all over is hardly a wish for anyone’s life. Even at a"cosmetic" level without anything else it spoils lives. Lack of confidence, depression, agoraphobia, being pointed out and mocked are just a few examples. Its not as easy as just to see a dermatology, or plastic surgeon, we are told NHS doesn’t fund anything cosmetic(?) Removal of lumps can help many, just to feel psychologically a bit better. So its not cosmetic really. We need publicity for Neurofibromatosis (Nf) Everyone should have heard about it. Its the most common dominant gene disorder. I don’t even see celebs on quiz show specials raising awareness. People who have heard of it, either have it, or know someone who does.

Isobelle thank you for being brave and sharing your story. I have a daughter who is also 10 with NF1 so we understand some of what you are going through. I so hope the future is better for you and all the other children with NF1, as many adults with NF1 have been very poorly treated by NHS.

Let’s hope all our voices are heard as you all deserve better.