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So where's the strategy?

NeuroFoundation.jpgPhil Hunt & Steve Bassam on ministerial warm words on NF Type 1

The first ever parliamentary debate on Neurofibromatosis Type 1 (NF1) took place earlier this week in the Lords Grand Committee. As Labour parliamentarians we had been prompted to ask for the debate by parents with children suffering with NF1 and two excellent Labour parliamentary candidates Sarah Owen (Hastings & Rye) and Vicky Groulef (Reading West).

For those unfamiliar with NF1, it is best described as a condition which is genetic, incurable and affects the skin and leads to the development of visible and non-visible tumours. At its worst, it is entirely debilitating; at best, the condition can be managed, but is lifelong. It leads to severe disability, constant pain, itching, cancers, epilepsy, high blood pressure, bone abnormalities, speech and language problems, dyspraxia, learning and behavioural difficulties and mental health issues. The condition is unpredictable – and it mutates and changes all the time.

It is often said that NF1 is the most common but least known of specialist conditions. Across Britain there are 25,000 sufferers, and 1 in every 2,500 births give rise to NF1. This compares with 5,000 people suffering at any one time from MND and 10,000 with Cystic fibrosis. The major problem with NF1 is the failure to identify sufferers early enough and then provide for the care and management of the condition. Frequently it is not picked up until late childhood and by then many of the disadvantages that come with the condition are entrenched.

The key is early diagnosis. The café au lait examination at birth and early record keeping is critical to ensuring effective treatment and support. In preparing for the debate we met sufferers and families and listened to their concerns. What they told us was that despite brilliant work in the centres of excellence in Manchester and London there is no effective national strategy.

Sadly, Health Minister Earl Howe, in setting out the government’s approach in response to the debate, confirmed that impression. In the two years since NHS England has taken over national commissioning for specialist conditions little has happened. A review being undertaken by a task force set up last year appears only to be at a consultative stage in its work. The chaotic and costly reorganisation of the NHS following the Health and Social Care Act 2012 has delayed the bringing forward of a cohesive strategy for specialist conditions. Warm words, a consulting task force, videos at the planning stage and talk of awareness raising among health professionals alone is not a national strategy or plan. Much of the good work put in place to bring coherence by the last Labour government appears to have been sacrificed and lost.

In the debate we invited the Minister to meet with the Neuro Foundation and work across Whitehall departments especially with education. We asked the government to maintain funding for the specialist centres, ensure that research gets into the national plan and also support work to end the sense of isolation that those with the condition suffer. In our view, that is the very minimum required to make progress and counter the neglect and ignorance the condition meets at an institutional level.

Lord Phil Hunt of Kings Heath is Shadow Health Minister and Lord Steve Bassam of Brighton, Opposition Chief Whip in the House of Lords

Published 15th January 2015

For more information on NF Type 1, visit the Neuro Foundation website: http://www.nfauk.org/

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commented 2015-04-05 09:21:35 +0100
My daughter was diagnosed at 2 years old with Neurofibrmatosis after her father died with a related NF cancer he battled with for 4 years. She has been lucky because she has been dignosed and has been treated at a specialist centre in Manchester. If my husband had a diagnosis earlier rather than 2 days after he died then treatment and care could been targeted around his needs. Training and awareness in medical diagnosis across the country for all health proffesionals is crusial to early diagnosis and the best medical care. Those proffesionals that already specialise in this area funding is crusial to promote better awareness, diagnosis, treatment, care and understanding about this genetic condition. Please support families like mine so that when my grandchildren enter the world they are meet by a ready equipped medical service and centres specialising in Neurofibromatosis across the UK.
commented 2015-02-26 14:58:59 +0000
I think it is definitely needed as I had never heard of this condition until my goddaughters parents were told she may have it and it wasn’t until her mum asked about 2 fatty lumps on her feet that they looked into despite having cafe au lait spots screening of babies and young children should be standard at routine health checks also research into the condition should definitely be increased. Awareness should be raised so more people know and understand it as like I said id never heard of it until my goddaughter started tests for it. To say it is the most common genetic disorder it is definitely about time more should be down to help sufferers nationwide.
commented 2015-02-23 23:48:20 +0000
Date 23 / 2 / 2015

was diagnose with NF1 when I was at the age of 40 years of age I had lot of hall marks when i Was younger this was never pick up on this when on further more I have suffer with lots of pain in the last 20 years since i have seenI NF1 specialist nurses lot more has come to light about my condition
How it is Affecting me now Etc. and getting better treatment there needs to be more support for individuals living with NF1 and NF2 Suffers, there needs to be more NF specialist nurses, Genetic centre of medicine centres, as there is very few up and down the country i believe there only 5 Aim lucky live few miles away from one in newcastle some people have to travel few hundred mile etc. and have to stay overnight which is shocking as it is now 2015 not 1815

kind regards
commented 2015-02-23 18:36:06 +0000
Jackie you might find these people helpful when going through appeal process for EHC. They helped me secure a statement some 7 years ago when my daughter started school she also has spontaneous NF1.
commented 2015-02-23 18:11:07 +0000
This is my 4th attempt at leaving a comment. Every time I visit the site I read the other comments and end up in tears. My relationship with NF1 started only recently. I had never heard of the condition before it was mentioned during my daughter’s appointment with a paediatrician last summer. She was 8. We had been referred because her school could not understand why she was behind and struggling given that on the surface she was a bright and bubbly little girl.
Only when the paediatrician discovered the CAL marks did it start to make sense. My daughter had always had the spots and I just assumed they were birth marks. The doctor then looked at the shoulder blades and saw that they were uneven. She suspected a curved spine (now confirmed). We had never noticed this before as our daughter had always been active- swimming, roller skating, horse riding and riding a bike never a problem. It does explain why she struggles to swim in a straight line though!
The paediatrician begged me not to Google Neurofibromatosis once I received a copy of the letter. However I did. I’m pleased I did really because it was months before the appointment with a specialist came through and I felt I was better prepared having read everything I could find. The Neuro Foundation website was a fantastic source of information.
It has been a rollercoaster ride of emotions since last summer. I still feel sad and angry. We have not yet discussed NF1 with our daughter, but she does know she has a wonky spine and is behind at school. She is amazing and inspiring given her struggles. There is no family history of NF1 and it would appear hers is due to a genetic mutation.

The debate is long overdue. How is it possible that the most common genetic condition is so unheard of? The idea of checking for CALs in the red health book is a simple, but significant step forward. It took my daughter 4 years of struggling at school before a diagnosis was made. I feel angry about this. If it was known when she started school (or pre-school) then help would have been there from the start. Now she is considered to be approximately 3 years behind. And despite all her struggles we have now had her application for a EHC assessment turned down and we are struggling to get a educational psychologist to see her. Why is this a battle? If it is well known that children with NF1 struggle in school then surely the process to get help should be easier? As she gets older her problems with concentration and retaining information become more obvious, and problematic.
The other major issue I have noticed is the long wait for appointments. We do not have an appointment to look more closely at her eyes (and I presume her optic nerves) until April. We received the appointment in December!
And so I return to the debate in the House of Lords and thank them (and the Neuro Foundation) for starting the debate. Our children deserve better. As do all those with NF. More needs to be done to support our children through school, and later in life
commented 2015-02-22 20:59:11 +0000
My daughter went to secondary school for 6 months. The Neurofoundation provided a lot of information about the learning needs of someone with NF: Was it read? Was it acted on? Were all the teachers informed about the report, even her severe food allergies? NO! The school would not provide a safe environment for her, and as Denise said: assess lots of individual parts, and they seem OK, Look at the whole and you get a completely different picture. It was as if the school just needed good stats the whole time. I am still trying to get extra educational support for her. At times, life is just wasted on trying to get the extra help and support she needs, rather than focusing on her. At the age of 16, she is no where near ready to sit GCSE exams. She has only recently been able to hold a pencil and write a whole sentence ( intelligent child, problems with coordination and concentration), yet we have a government penalising everyone who has “other needs.” Physio is allowed 6 sessions per “patient.” It just does not work with NF, and there are no allowances for this. We are all giving examples of the lack of understanding and gross failure of our nation to meet the needs of our children and adults with NF. We are lucky she does not have any major health issues.
commented 2015-02-22 13:40:35 +0000
Hi – I have a 11 year old daughter who was diagnosed at the age of 5… the NF association have been fantastic however the NHS and the education system have totally let her down – she is also diagnosed with Hypermobility, dyspraxia, and dyslexia -- we were constantly trying to get her extra education support however nothing, we even arranged for a specialist nurse advisor to visit the school to explain the condition and provide a pack for the teachers that work with her to understand the condition – the pack was never seen again by any future teachers there was another situation that happened within the school due to the lack of knowledge of NF but I would prefer not to comment about that on a blog but I am in the process of drafting a letter to our MP about it – at the end of year 6 her results were that she was the same level as year 2/3 …. the senior school she is at now is a lot better and are highlighting the difficulties that we tried to tell the primary school even without us prompting -— with regards to the NHS the difficulty we have is that when she is assessed she comes out ok – this is due to the fact that noone in the NHS looks at the whole condition and you have to see specialist for each difficulty – for example speech – ot – physio – podiarty — they only assess the particular area that they specialised in for example speech will look at her speech and only concentrate on this in an assessment yet if you put her talking while doing something else the speech is effected as she is not just focusing on the talking assessment.
commented 2015-02-21 17:53:21 +0000
My daughter was diagnosed with this condition when she was 19. Despite having over 75 cafe au laits which have increased throughout her childhood. She also had a plexiform neurofibroma removed when she waa 21 and has a soft tissue fibroma in her head. She was the first in our family to have developed this condition and considering it is so common effecting 1 in every 2300 people I was shocked that there was so little awareness. I still struggle to understand this condition even now and it wasn’t until she gave birth to my grandson who sadly inherited the condition that I am beginning to understand just how complex this condition is. I feel more awareness is a must particuarly as the first signs begin to occur from birth. That way with early diagnosis it could prevent complications from developing and with the right treatment and support those who suffer with NF can have a more positive future.
commented 2015-02-16 14:25:49 +0000
Our story starts in 2007, when my son had no speech by the age of 2. This was the same as his older sister, and we were told by the GP, that his sister was doing the talking for him. At this point I done teacher and SEN training, and then had serious concerns, as through my training I noticed my son was delayed in all areas of development as well. We called the health visitor who once again said she had no concerns, but would refer to speech and language, and would give us practical parent course, due to his difficult behaviours he was developing. The community SALT (speech and language). Worked with our son till he was 5 and said he had age appropriate language. The nursery said he was hitting all his targets, the health visitor had no concerns but would agree to us requesting a paediatric referral. We then seen Dr Ganesh at Telford in 2010. I went in with a list which Dr Ganesh took seriously. My son sat good as gold on my knee, and there was no indication to the problems I had listed. The Dr then asked to examine him and started to count all the birth marks and asking about family history, I said all the family have them apart from me. At this point he agreed to my son getting a full multidisciplinary assessment and would arrange it as soon as possible. After the assessment Dr Ganesh called us in to feedback the results of his diagnosis, he had moderate global development delay at the age of 5 he was performing at 2 and half, he had a receptive language delay and it was that of a 18 month old, he had Autism Spectrum Disorder (ASD) and also NF-1. He then called in the full family and diagnosed my wife and eldest daughter as well. At this point we moved to North Yorkshire for 18 months before I left the military, and referrals were made to paediatrics. The service at North Yorkshire was nothing short of disgraceful. We requested twice for my daughter to be seen by a Education Psychologist due to difficulties at school in learning but it was refused. My son had his ASD diagnosis removed, and we were told he had ADHD and they wanted to start Ritalin. Luckily we moved back home to Sunderland and what a service it is and a credit to the NHS. Dr Horridge paediatrician who specialises in NF-1, and the team Susan Musson specialist NF-1 nurse, Jan Raine and Kate Heathfield specialist autism speech and language have helped, and supported us with our children. Due to the excellent set up, my eldest daughter has NF-1, ASD and ADD, my son has NF-1, ASD and learning difficulties, my middle daughter has NF-1 and ASD, and my youngest daughter has NF-1 and is being investigated for ASD, and my wife also has NF-1 being diagnosed when she was 33, believing it was nothing more than birth marks. Without the help of the team and the exceptional Dr Horridge who really knows her stuff on NF-1, the children would not be getting the help they need, that’s makes a big difference to their life. Current thinking is 60% of children with NF-1 have learning difficulties, and 25% of children have ASD. The figure could be higher but it is not been diagnosed correctly. I wonder how my people have NF-1 and associated problems but have not be diagnosed and supported correctly, or how many women with NF-1, who have depression and anxiety or being misdiagnosed, actual have ASD as it presents different in women to men. I fully support the Lords, in what they are trying to achieve to raise its profile in public, but more importantly in the medical profession. As my wife points out over the years how many GP’s, midwives, health visitors, paediatricians has she seen, and they failed to recognise the significance of the birth marks.
commented 2015-02-13 22:06:42 +0000
I am an adult with NF1 and consider myself lucky to have no major health problems. I do have lots of bumps and am affected cosmetically. I get unkind comments from time to time and hate showing my skin and increasingly cover up. My neck has a lot of bumps on. I want them removed by laser and the CCG wont fund this procedure. They say it will not benefit me. It will give me a little bit more confidence to wear the clothes I want to and also it will make me feel a bit better about myself. I hate looking in the mirror and seeing the way I look. I try to avoid mirrors at all costs and hate clothes shopping. Like many people with a lot of bumps, I get unkind comments on occasions. I also get stared at. Why wont the NHS fund the removal of my bumps? The people who made the decision haven’t even met me so how can they say it wouldn’t benefit me? They people at the CCG probably don’t know anything about the condition as they wont have heard of it. This condition has meant that I am on my own as I have never had the confidence to get a partner and have always been self conscious about my bumps. I will fight this decision tooth and nail and make sure I get the treatment I have asked for.
commented 2015-02-13 19:52:55 +0000
This is such an important issue for so many people living with NF1. My daughter is no 17 and studying A levels. NF1 has made a lot of her life miserable and she hates how it restricts her life. People who do not know this condition may think that illness only restricts you if you let. I would challenge them to walk in her shoes for week — one is a size 7 and the other size 13 due to the tumour of her left foot and ankle – in fact they are now shoes as she has never had a pair she just manages to get her left foot into a vastly over sized trainer. The shoes made for her by Great Ormond Street have increasing been unusable due to additional pain they cause. Infant and junior school were a nightmare with no support for the ADD she very obviously had associated to the NF1. Neither health or education offered support in understanding or helping the family to proactively help her through these years. Her senior school have been wonderful in trying to understand and make adjustments for her. She uses a disability scooter to get around the school and is now very close to having her lower left leg amputated. She has coped with living with chronic pain, at times very limited mobility and what we now recognise as high functioning autism. She has been know to say that she wishes she had had cancer instead of NF1 because there is so much research and people are sympathetic – now she is older she appreciates that you cannot barter between disease and how it affects you. As the most common genetic condition I have yet to find a teacher who does not have go google her condition to have any insight into it.

Whilst the clinical effects of the tumours, bending bones and sleep difficulties are hard by far and away the worst aspect for our family has been the total lack of support to cope with the social isolation and problems with the resulting depression and at times suicidal feelings.

Our daughter is highly intelligent, beautiful, funny and has ethical views on a number of current affairs. She is taking 3 A levels and will go to university but it has been so hard for her. Why should it be acceptable that children born with NF1 should have poorer educational achievement because they struggle to cope with full time school. Living with chronic pain is disabling and the disturbed sleep patterns and tiredness mean they struggle. If there are 25000 people in the UK with NF1 how much talent are we squandering and how much loneliness and unhappiness are we ignoring. They deserve better and it feels they suffer from not having on of the more “sexy” conditions that the NHS focusses on and the public give large amounts of money to.

As a parent I am so grateful for this subject being raised and debated. I work in the NHS and appreciate the huge pressures people are under but people living with NF1 deserve a voice and the support to limit the unhappiness and damage this condition brings to many of them.

This is a challenge to both health and education – support parents with understanding and recognition of the wider effects of this condition as too often it feels like your beautiful child who you love dearly is treated as some form of monster by the wider world. I hope that the very cleaver people working with genetics find treatments to help but I would challenge everyone to care just a little bit more about the person who lives with this condition so they are not so alone, scared and desperate.
commented 2015-02-12 20:48:20 +0000
Hello All

My NF1 Journey is a story of two halves. I have NF1 I was diagnosed at 4 when my mum and dad had taken me to see the DR as they thought that I had CF I kept getting pneumonia. My cousin has CF… They came away with a completely different diagnosis and had no idea of what the future held. Thankfully my diagnosis came before the days of google…. I vested the hospital once a year for the normal height weight and blood pressure etc at this point in time they did not do annual eye tests. I had my first operation to remove a fibroma from the side of my toe, this was hard and hurting…. I was then signed off at 18 and have had no follow up from this date other then taking myself to the DR to request paid full or itchy fibromas removed. Next trip to the DR will again for me to ask for the removal of more that are located in places that rub, fingers cross they say yes.
I have lived a normal life did ok at school – middle of the road – went to uni Wolverhampton (very glam) – met my husband in the SU! As you do…. Found full time work and have worked full time from finishing uni in 2003 bought a house got married. Made the massive decision to try for a child knowing the risk of passing on my NF. The risk failed and we lost. My beautiful little girl has NF1. I noticed the cafe au lait birthmarks within two weeks. I was broken I stated to google – something I had never done prior to the birth of Izzy… So far we are having 6month check ups at the hospital and yearly eye checks. I am opposed with checking her for any changes to her skin cafe au lait spots appear to not be developing at this point in time. I worry about major facial deformities and must learn to enjoy now…. She is reaching all the normal milestone and have kept her NF to myself and close friends. ( many people don’t know I have NF) so what am I trying to day – the support is their for Izzy and not for me, I will fight for the best treatment possible for her if or when needed. I wish for society to be kinder for people who look different.

During my pregnancy I saw a vast range of health care professionals often having to spell Neurofibromatosis for them and even going onto explain into them. As well as midwife lead I was consultant lead at the hospital. About a month before Izzy birth I was asked to go in and see an anaesthetist re the issues around NF and a spinal at the point in time of seeing him he was more than happy for me to have a spinal. Two weeks prior to my due date I got a phone call from him to say no you are no allowed a spinal we will see what other pain relief we can give you, this info was not placed on my notes and I ended up with an emergency c section under a general not what I had listed on my birth plan but after 72 hours of pain I had had enough but more communication between anaesthetist and midwife team would have lead to a more positive birth.

The final points of my disjointed story is my anxiety due to NF ? I have no idea.

Do I wish I could no be covered in fibromas all mainly in places that I can cover but I would feel so much better if they were not their. I did not have this feeling before the birth of my daughter and the birth of my daughter as lead to me doing more reading and more worrying.
commented 2015-02-12 19:59:39 +0000
I have nf 1 always in pain itchy skin poor concentration Never did well in school in English and maths felt and made feel I was useless was only told I had nf when i was 42 but did attend a hospital cause of my birth marks my said she had them also my bbrother was told he had nf 1978 my mum did not want to know and I was nt made aware till 30 years later
commented 2015-02-12 12:44:18 +0000
My close friend Sarah Hudson has a daughter with NF1. Having being involved closely with helping Sarah through some difficult times I have been both shocked and appalled by the lack of knowledge and expertise available at a local level. There needs to be better training for front line GP’s so as to detect the condition much sooner, perhaps along with a screening program for young children.

I dread to think how many undiagnosed children and adults are out there.

Anyway at least there is now some movement via this blog and who knows possibly a more focussed approach by government. Here’s hoping!
commented 2015-02-11 14:33:32 +0000
My daughter was born in 2004 July her birth was very quick. As soon as she was given to mei noticed her head was large and totally flat at the back. I asked the midwife why as my sons had not looked like that after birth. She said it was because her birth was so quick the birth canal hadn’t shaped it. I accepted it. I saw a few “birthmarks” on her at birth.
My daughter was a very floppy child we were encouraged to do physio exercise to strengthen her muscles. She struggled to reach milestones but we were told it was because she had an older sibling she wasnt bothering to try to crawl as he would go to her and weak muscles were an issue.
Mine and her fathers relationship broke up in 2005 and I went to live with my mother with the children.
During this time around October 2005 I was questioning why my daughter had so many freckles in odd places and so many “birthmarks”. I mentioned she seemed to have more including one on her privates. I was told not to worry.
November 2005 I was preparing to move into my own home with the children. There was a knock on my mums door and it was a social worker. She explained that a report of abuse had been made against my daughters father was my daughter had been seen to have a bruise on her privates during a nappy change. I explained it was something she was born with. This meant nothing though. Within days the social worker was escorting me and my daughter to hospital where we were met by a police. We were taken into a small room with a consultant inside. All my daughters measurements were taken and then she was examined for any suggestions of sexual abuse. It was awful I was so scared and upset an mostly unsupported. The consultant said she had not been abused and the marks were not bruises or birth marks but cafe au lait marks. The police then left no apology ever made. The consultant asked my permission to refer to another Dr I said yes. We were then taken home. Social service never apologised for how they handled the situation. They could of saved the trauma by speaking to the health visitor.
In march 2006 we went to see a consultant at the hospital. My daughter was checked over and the consultant told me she “probably” has Neurofibromatosis and he gave me a leaflet and said to look it up. I couldn’t even say it let alone spell it. I wasn’t offered anymore information on it.
I left feeling confused and scared. When I got home I tried to look it up and what I found was scary I by the end of the night had the belief my daughter would either die young and in pain or be disfigured and I in pain.
This all triggered a break down in me and I gave my daughter and her elder brother to their dad because I could not bond or move on properly to care for them. They went pprox may 2006 maybe slightly later. Prior to this I had asked social services for help but they didn’t get back in touch until till 2 weeks after they had gone and it was only to tell me we didn’t fit criteria for help.
I maintained a relationship with the kids and their dad but my daughter didn’t see a Dr or consultant at all when with her dad. She was still behind in most things.
The children came back to me around the end of 2007 and she hasn’t seen a Dr by then. I think it was around 2008 she saw the consultant again who misdiagnosed many of her issues and refused to confirm her nf despite her meeting all the criteria.
In 2008 she was struggling with school, and head aches. I think it was around this time I had found the neuro foundation and was arranging to see a geneticist nurse. In 2009 I think she saw the geneticist and was given the full nf1 diagnosis. We were also told she should of had regular eye tests at the hospital and hearing tests and that there was an nf1 clinic in the area we lived in we were told she had hyper mobility and several other issues.
In 2009 she was given an MRI her consultant rang with the results saying she had brain tumours I was stunned. I rung back to be told she didn’t have tumours she had lesions or ubos which were quite large and probably causing some of her issues.

Its now 2015 and not much has improved. She is still being largely ignored by the hospital she was under. She now Has a plexiform on her privates and 2 other small fibromas on her chest and finger. We are still fighting for what she needs medically and gas recently been seen at the complex clinic in Manchester.
School wise she’s been on extra help through out but not statemented which she needs badly. She’s no where near ready for highschool and I am fighting for help
Everywhere we turn we are let down. We have been on cahm waiting list almost 12 months despite her harming others and herself constantly.

We need someone to help us because fighting for everything is destroying families. My other children are scared of my daughter because of her behaviour issues due to nf1. There is no help
commented 2015-02-11 12:38:05 +0000
Wow – Thanks Sally – what an inspiration :) Thank you David also. Vanessa – I think I have found you on FB via the neuro page and have sent you a PM – would really love to connect with you all x
commented 2015-02-11 12:30:47 +0000
Hi Claire the neurofoundation have a support line which is run by rosemary who used to be the advisor for Manchester. I can’t remember exactly how long she has been working with nf and supporting people but it must be about 20 years. She works Tuesdays and Wednesdays 07866 946 334 is her number. Completely confidential of course
commented 2015-02-10 23:31:51 +0000
Hi Claire, so sorry to hear what you’re going through. You’ve received some good advice below. If you need to chat to parent’s in a similar situation please visit this website and request to join one of the groups detailed. I hope you get some answers soon. http://funnylumps.org/home/uk%20regional%20support%20groups.html
commented 2015-02-10 23:09:20 +0000
Hi Claire. Your story had me in tears, you are me when my daughter was diagnosed at 7 months. She is 2.5 now and let me tell you, with the right support and the correct information you can do this. You will get stronger and learn to take a breath and move on. Your son is still perfect even if he has nf. My daughter has nf complex and she is as bright as a button and has a huge fan club. You will survive this and you will become so strong you won’t recognise yourself. But allow yourself time to cry and adjust. I have a little cry now and then, then I take a big breath, smile and carry on. Let’s fight this together and win xxxx
commented 2015-02-10 22:03:16 +0000
HI Claire, There are some closed groups on Facebook which your friends wouldnt see, but I completely understand you may need time to come to terms with things. However we are all here for you. Neuro have my email address and I will give them permission to pass it to you if you ever need it and then it will open opportunities to to speak to lots of us – this isnt something you want to go through on your own – and it does get better, at the moment its just the unknown that is scary.
commented 2015-02-10 21:52:42 +0000
Vanessa, Sarah & Nicola – thank you for your replies. I would dearly love to make contact with others in similar situations. I have been visiting the neuro Facebook page but at the moment I have not ‘liked’ it because I am keeping my cards close to my chest on this and do not want my Facebook friends to put 2 & 2 together before my family comes to terms with it all. Hope you can understand. I just felt it was very important to add to this blog our experience as it seems very relevant and as someone who has always held the NHS in high esteem I do feel very short changed and let down through this ordeal. X
commented 2015-02-10 20:19:59 +0000
Claire I have just read your comment and reading yours and so many other comments the thing that strikes me the most is the lack of support, frustration and fear we all seem to feel either for ourselves or for someone we love. It seems ridiculous that in this day and age there is so little co-ordinated care or knowledge within the healthcare profession. I was in a similar position to you in that my daughter’s marks were spotted by a paediatrican on an unrelated matter. His observations of my husband during that appointment raised the NF1 question but we were also left alone to wonder and google and panic. It took 13 months before we finally saw the clinical geneticist who confirmed NF1. Our position was slightly different in that it was also suggested my husband had NF1. As he has (so far) none of the most horrifying aspects of this condition we had a bit of a false sense of security about what NF1 meant. It was described to us by the paediatrician as a genetic disease affecting the nervous system. Your kids will get checked as they could develop eye problems or spine problems but basically any complications can be treated if they are caught early enough which is why we do checks. As we’ve read and learnt more about the condition the possible consequences of this disease are absolutely terrifying. As an adult being diagnosed my husband feels completely unsupported – kids get checks and support but as an adult he is just told to get his eyes and blood pressure checked and see his GP if he feels anything is wrong! No proper information or support at all. He feels an incredible sense of guilt at having passed this illness on to our children. As for our kids, one thing I find interesting is that we all seem to receive different treatment ie number of checks, different methods of diagnosis etc. We’ve been told an annual check is sufficient but some people seem to get more, some less. I don’t think there can be anything more terrifying than someone hinting that your child could be unwell with a potentially life changing disease… to have to wait months and months to get that diagnosis confirmed is quite simply unacceptable, but that seems to be the situation we find ourselves in. Once the diagnosis is confirmed it would be nice to have more co-ordinated information and support. I feel that I will always live with the fear that this disease could one day change my children’s lives. I have a husband and 2 children with NF1 and I feel that odds of all 3 of them coming through it with only mild symptoms are very small. I find myself facing the future with trepidation and knowing that, if my children are unfortunate enough to develop the more serious complications of NF1, it seems that I might well have to fight for care and support for them. I would like the government to tell me why people with this disease should have to fight so hard for basic care and support?
commented 2015-02-10 20:00:06 +0000
Claire I have just read your comment. I know exactly how you feel. I’m a little further down the road from NF diagnosis, my daughter is 3 and was diagnosed 18 months ago. If there is anything I can do to help please comment again. I know there are very few NF support groups but there is a strong NF Facebook community who will chat online as we understand exactly the feeling of isolation. Try to speak to one of the advisors at the Neuro Foundation they are very happy to talk and can advise you, not only Nf but also on the health care your son should be receiving. They helped me alot. You really are not alone xx
commented 2015-02-10 19:43:11 +0000
Hi Claire, I read your comment with a lot of sympathy, Many of us have been through exactly what you have. You are not alone. Have you contacted Neuro? If you are part of their Facebook, you will get a lot of support from lots of us – if not please join and we will all say hello.
commented 2015-02-10 18:55:16 +0000
My story begins early Dec 2014 when my 4 year old son was admitted to hospital with an acute viral wheeze, a Paediatrician questioned his brown ‘birth marks’ in a way that alarmed me but offered no further info at the time except asking about his general development and saying ‘I don’t want to worry you’. Cue me googling from my iphone ‘Birthmarks + Learning delays’ and the words Neurofibromatosis coming back at me. Somehow I knew this wasn’t going to go away.
I had always been aware of his birthmarks (what I now know are ‘Cafe au Lait’ marks), however having a couple myself I just put it down to ‘one of those things’. I even asked our GP about them when my son was around 6 months old however I assume now he must have misunderstood me because I was sent away with some E45 cream. I had also had concerns about my son’s speech delays which I had mentioned to our Health Visitors on numerous occasions but was told he was ‘just a boy’ and never was any speech therapy referral made.
Back to Dec 2014 – eventually a 2nd Dr came back to me and I was able to ask a few questions (by this point I was in a state of panic) – he examined my son and said ‘it doesn’t look like NF to me, but we’ll refer you to the community Paediatrician’ I asked what is the likely symptoms and he mentioned high blood pressure and epilepsy.
Discharged from Hospital and back at home I plucked up the courage to google again and was horrified at the images that came back – was this going to happen to my bright mischievous perfect little boy?!? I was waiting outside my GPs surgery the following morning and in the consultation room I broke down and could barely get the words out. I asked about paying for private investigations because the thought of waiting was killing me. He talked me into sticking with the NHS but didn’t seem to really know what I was referring to when I mentioned birthmarks and a genetic disorder.
Getting through Christmas was hard as NF was on my mind constantly (like a broken record), I became fearful of undressing and bathing my son because every time I did I seemed to notice more CALS. I reigned my goggling in out of fear and eventually around New Year Eve the referral came through for the community Paediatrician in the first week of Jan. Finally I hoped someone will tell me it’s all nothing to worry about and a big mistake! At the same time the ophthalmology appointment came through for 19th Feb!
So at the Children’s outpatients a Dr took our history and ultimately confirmed what we already know – my son has multiple CALs. The diagnosis would require the ophthalmology report which was over 6 weeks away. We were again not offered much more information except ‘not to google’ it and told if/when diagnosis is made we will be given some info.
Back home I myself wasn’t coping with all this uncertainty and decided to see my GP who promptly signed me off work for 3 weeks with stress induced illness and prescribed me antidepressants.
So here we are over 2 months down the road and I still know no more than my son has multiple CALs – we finally see the eye Dr next week and if he/she sees what they are looking for then we can be certain of an NF diagnosis – however we have no more appointments in the pipeline – so we will be left knowing he has this with no immediate further help/advice/info. I have a long list of questions but when they will get addressed I do not know.
Since Dec 2014 the rug has been well and truly pulled from under my feet and the info/procedures in place within the NHS to help people through this seems non-existent. I feel isolated and alone.
commented 2015-02-10 12:04:55 +0000
My son Sebastian (4 years old has NF1) When I was 12 weeks pregnant, they diagnosed Sebastian with gastroschises. (a condition where all the the intestines pushes outside the body) This condition can be fatal and we were lucky to have Sebastian born “healthy” except for all his intestines being outside his body. He had a 4 hour operation at 3hrs old and stayed in intensive care for 3 weeks. We thought the worst was over, but it was yet to come. At 6 weeks old he started getting large marks all over his body and the paediatrician confirmed this might by NF1 – we had never heard about this and as if you google it, the stories you see are devastating. After months and months we went to see a genetecist that immediately had Sebastian tested for NF1 (as this was a spontaneous mutation as my husband and I both don’t have it) – about 4 months later and an agonising wait we got the news that he has NF1 and our world collapsed. Apart from all the doctors we were seeing anyway due to his recovery from stomach surgery, he now had a few more doctors thrown into the mix – about 12 in total we were seeing.

NF1 affected his sleep severely – he would wake up every 20 mins or not settle at all and basically did not sleep for the first 2 years of his life. Quite terrible for working parents that also have another child to take care of. He developed slowly and had to go the physiotherapy to help him with crawling and sitting, he saw a dermatologist as he developed a tumour on his scalp and combined with NF1 now had to undergo bi-monthly tests for leukemia. He had a tumour in his mouth, he had to see the opthalmologist for checks for eye tumours and his general NF1 paeditrician for monitoring.

Physically he had very poor balance and extremely low muscle tone and he would get very tired very quickly and couldn’t walk long distances. He had poor fine motor skills and things like eating with utensils and holding a pencil is tough.

He had to undergo speech therapy as we couldn’t understand him properly and that frustrated us and him immensely.

He is now in nursery and going to reception next year and reading other family’s stories just shows me he is at the lighter end of the spectrum of NF1. And if we had such suffering since we were pregnant with him, I cannot even imagine what other people that is so much worse off than Sebastian are going through.

We need more awareness of NF1 as that is key to intervention. We were lucky that we were already in the NHS system and seeing top paediatricians that knew the signs of NF1 due to Sebastian’s stomach condition so we were referred quicker and easier than someone else would.

Most GP’s we talk to don’t know what we are talking about when we mention NF1 and it is both frustrating and scary. Information and awareness is a must.

The US seems to have a lot of funding and research for NF1 and are very pro-active about it. As a first world country, the UK should not be behind the US but should be a world leader with them in the research and funding of NF1.

Please take a serious look at how many people are affected by NF1 and give the families and individuals affected the support and early intervention they need. Otherwise the problems that occur later will only cost the NHS so much more and it could have been avoidable!

Thank you
commented 2015-02-10 10:12:10 +0000
I have posted here before but wanted to add the following, as despite my children having an early diagnosis and getting statements and attending a special school their education has never been easy. At the moment we are battling to get support for our son in his G.C.S.E exams. N.F causes him problems with hand writing and poor spelling. However he does not qualify for a scribe. He has the knowledge in his head but just can’t put it on paper in a way that can be read. On top of that the government are adding to the pressure by insisting that everyone should get a grade c at least at the same time as reducing vocational subjects. Our children need support and understanding so can find their niche in life and become happy adults.
commented 2015-02-09 23:59:44 +0000
I just want to say a huge thank you to each and everyone that has written on here, it cant have been easy to write some of that stuff – very emotional, and heart breaking – but I think it needed to get across. I can try to tell people what its like for everyone living with NF, but its not until you hear personal stories like yours that you can really understand the scale of the problem. Although the stories have different symptoms the problems faced were exactly the same – and a very common theme – lack of a relatively easy – early diagnosis by CAL’s. We are going forward now.
commented 2015-02-09 23:51:31 +0000
I have Nf and so does my daughter. I am in pain everyday and on some very strong pain medication. I walk with the aid of elbow crutches and wear braces on both my knees and hands. I also have other health issues , not sure if some of the are Nf related or not. I am on nine different medications a day. I had my sickness money stopped after I had received it for 365 days, which what the goverment said I could be paid for, I now get no money from anywhere , yet I still have to pay for my prescriptions and dentist and when you have nine items per day at over £8.00 an item its a lot of money to find when you don’t receive any benifits. I have asked them to look at my situation again but that was over eight months ago and I still have not heard anything back from them. My daughter has lots of health issues too and has tumours on most all of her major nerves in her body that have caused lots of health issues, she is in pain all the time and wears a back brace, knee braces and foot braces to try and help her. Having Nf is not going to go away, it’s not going to get any better, it will only get worse for us all.
commented 2015-02-09 23:49:50 +0000
Oh and also they have taken away her disability even though she is in so much pain some days she cant even get out of bed she has only been at school 54.6% its bot fair life is not normal for her I would love to see her on her bike again with that lovely smile.
She still smiles everyday but you can see its hard for her.

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