Phil 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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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
joseph
http://www.iassnetwork.org.uk/
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
-- 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 teachersthere 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.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.
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.
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!
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
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.
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
She still smiles everyday but you can see its hard for her.