We sold tickets to friends, family and my mums work friends and sold pink and blue cupcakes on the day of the raffle.

We raised £337.00 for CMN. There were a few people interested in CMN and what it was as they had never heard of it. We wore our CMN t-shirts and put up pink and blue balloons.

Lewis North – Bronze Award Winner

The post Fundraising raffle appeared first on Caring Matters Now.

It was very cold and hard work but we raised £204.70. We also got to watch some of the match, my first ever football match!

Fay Hardwidge – Bronze Award Winner

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Dr Kinsler’s CMN research work has recently been awarded one of five prestigious equal poster prizes at the Academy of Medical Sciences meeting for Clinician Scientists 2013, which is a national meeting of clinical researchers. This was awarded for the recent NRAS findings which you can read more about here.

Caring Matters Now is a substantial funding source for the research programme and therefore it is a real honour to see the fruits of Dr Kinsler’s work.

The post Prestigious Poster Prize for NRAS Finding appeared first on Caring Matters Now.

The kids enjoyed the entertainer and meeting new friends with CMN and the parents spend time talking and supporting one another. Dr Kinlser presented her recent research findings, the cause of CMN and what we now need to do moving forward.

It was such an exciting day hearing about the progress of the support group and the amazing work Dr Kinlser has done and will continue to do if we can provide the funds. An inspiring and informative day.

The post CMN Support Day (formerly known as Family Days) London – 16th March 2013 appeared first on Caring Matters Now.

There has been a very exciting new finding in our study of the genetics of congenital melanocytic naevi (CMN).  We have discovered that the genetic change (called a mutation) that causes CMN and neurocutaneous melanosis is in a gene called NRAS.  We found this gene mutation in 80% of the cases we looked for it in the skin, and also in the brain when there were problems there.  In 20% of cases we still do not know what the gene is.

This gene mutation is not present in the blood samples from people with CMN, only in skin or brain.  We have only so far been able to look for this in 15 people, from whom we had consent to check their samples, but we are now checking it in stored samples in the hospital where people have also given their consent. 

The NRAS gene is already known to be involved in melanoma, but does not cause melanoma on its own. NRAS is an important gene in the body which acts as a switch to turn on cell growth.  With the mutation in the gene the effect is to keep that switch always on.  When this happens during foetal development in a particular cell it produces CMN.

I am going to be talking about this new finding at all the Caring Matters Now family days from now on, and I will also be happy to discuss it at clinic appointments.  Caring Matters Now local contacts can also help to explain the finding. This finding is going to help us to move the project to the next phase, which is to start looking for treatments for CMN.

I would like to thank all the families who have been involved in the research studies, and given blood samples and skin samples. It is not an easy thing to ask your child to give a blood sample, or a skin sample, and not easy for the child to do.  It is not possible to over-state their role in this research, as we would simply not have been able to find this gene without the samples.  I would like to mention two families who gave samples in very difficult personal circumstances, to whom we are all particularly indebted – these are the Bostock and Wigmore families. Without their samples the research would not have been able to draw the conclusions that it did, with the resultant benefit for all people with CMN.

With best wishes

Dr. Veronica Kinsler

Here is the link to the summary of the publication released:

Multiple Congenital Melanocytic Naevi and Neurocutaneous Melanosis are Caused by Post-Zygotic Mutations in Codon 61 of NRAS

Great Ormond Street uncover findings on their blog:

http://blog.gosh.org

The post Exciting new finding in our study of the genetics of CMN appeared first on Caring Matters Now.

Mel Bartlett’s daughter Ava

Sky Sports celebrities are organising a ‘Dancing with Sky’s Stars’ competition at Silverstone race track to raise funds for Caring Matters Now and Rett Syndrome Research Trust UK… and you are invited! 


Mel Bartlett, mum of Ava who has CMN, is the senior director at Sky Sports News.  Mel and her colleagues have rallied round the celebrity stars from Sky Sports, to help support Caring Matters Now by raising funds and promoting CMN.

On Friday 22 and Saturday 23 March Sky Sports Personalities are putting on a ‘Dancing with Sky’s Stars’ which is a ‘Strictly’ type dancing competition at Silverstone race track. It’s going to be spectacular.

Famous names from the world of television and sport have agreed to dance. An international dance champion and his dancers will teach and partner the celebrities.

The dancers include:

• Natalie Sawyer – Sky Sports
• Kay Burley – Sky News
• Kelly Sotherton – Olympic Bronze Medalist
  
• Vicky Gomersall – Sky Sports
• Cassie Patten – Olympic Bronze Medalist
  
• Orla Chennaoui – Sky Sports
• Johnny Nelson – Cruiserweight World Boxing Champion
• Julian Warren – Sky Sports
• Mike Wedderburn – Sky Sports

Celebrity judges:

• Mark Ramprakash – England Cricketer and winner of BBC Strictly Come Dancing 2006.
• Mark Foster – Freestyle 50m World Swimming Champion and BBC Strictly Come Dancing competitor 2008.
• Dan Lobb – Daybreak
• Arlene Phillips (Saturday night only) – World-renowned Director and Choreographer and one of the original judges on BBC Strictly Come Dancing

And the event will be hosted by Soccer Am’s Max Rushden and Sky Sports presenter Charlie Webster.

If you’d like to show your support by coming along to the event, then tickets will be available at www.silverstone.co.uk/events/dancing-with-skys-stars/ from Monday 18 February.

Tickets range from £25 to £60.

All funds raised from this event will be donated to Caring Matters Now and Rett Syndrome Research Trust UK.

To learn more about Rett Syndrome visit the website www.reverserett.org.uk.

The post Dancing with Sky’s Stars – Raising funds for Caring Matters Now & Rett Syndrome Research Trust appeared first on Caring Matters Now.

As fliers were distributed to family, friends, neighbours and school book bags, I began to worry my love of quiz nights was not shared by the masses. But during the weeks that followed, there was a steady stream of requests for tickets and more often than not, for full tables of eight.

In total we sold 125 tickets – a number way beyond our expectations… and enough to make me thoroughly nervous about the whole thing. Had I booked the right kind of catering? Was the quiz too long? Too short? Was the hall big enough? What was I going to say about CMN? Would I suddenly start crying?! I needn’t have worried. After all the organising and fretting – and an enormous amount of help from those around us – the night was fantastic.

The lady who devised and hosted the quiz – a good friend and neighbour, who herself had a single CMN on her face as a child – was brilliant. And the raffle was a storming success. Among the prizes donated by friends and family members were Burberry scarves and umbrellas, a brand new child’s bike and a Boots hamper worth £100.  We sold 2,300 raffle tickets in the hall that evening. I almost ran out!

Everyone I spoke to was hugely supportive and more than happy to dig deep.

On the quiz night itself, we made a profit of £2,200. But what has amazed us even more, has been the additional personal and corporate donations that have rolled in since that night and have increased our final figure to £4,400.

My brother’s employer – a bank in the City – were able to double a large proportion of the money raised, through their corporate charity scheme. And Charlotte’s godmother, who works for a big accountancy firm, applied to their corporate responsibility programme and they donated another £500.

Neighbours from across the street who were unable to attend the quiz night, suddenly appeared on our doorstep with cheques.

This snowball effect has been staggering. People really are willing to go that extra mile and ‘pull together’ for a good cause. And we are delighted to give this money to Caring Matters Now – especially at a time when Dr Kinsler is turning her attention to potential treatments.

I hope one day our daughter Charlotte will be proud of us – just as we are proud of her.

The post The Snowball Effect (CMN Quiz Night, held on Sat 1 Dec 2012) appeared first on Caring Matters Now.

When – 26th – 28th July 2013

Where – Caythorpe Court situated close to Sherwood Forest in Lincolnshire.

Price - £119 per person.

This price includes:

• Food
• Accommodation
• Activities
• Evening entertainment

Under 3yrs go FREE and 4-6yrs get £24 reduction.

Book by 15^th February 2013 and Caring Matters Now will subsidise those with CMN.

That’s one FREE place per family! So be quick.

CONFIRM YOUR PLACE NOW! – Download the booking form here

Return it by 8^th February with a non-refundable cheque deposit (made payable to Caring Matters Now) of £30 per person to:

CMN
PO Box 732
Cambridge
CB1 0QF

 >>Download the booking form here <<

“ We arrived at Boreatton Park not really sure what to expect. We had never done a PGL weekend before and while we try and make a CMN family day each year we didn’t really feel we knew anyone that well. But we needn’t have worried. We were made to feel so welcome by the lovely Unsworths and soon got chatting to other families. 

We will all remember the activities; the big swing was our favourite; Mum actually managed the abseiling; William proved to be a bit of a natural at archery; we saw a swimming pool full of children with CMN; our room was covered in wet clothes and soggy shoes after raft building; the children danced to Jessie J at the disco. Our days were planned and there was a perfect mix of down time and activities. The PGL leaders were so encouraging and helpful.

As adults we will remember meeting new friends, sharing and listening to others’ stories and feeling very much supported and no longer alone with your thoughts and worries.

Most importantly of all we have given Elspeth time to start building friendships which we hope in time will be a real source of comfort and strength. As she and a new friend walked out of the food hall I heard them laughing “Did you see those brownies were staring at us and we just stared right back.” As a mother, I try and meet her needs but there is nothing like her having someone who just knows and really understands what it is like.

Not surprisingly we would encourage all CMN families to come along to the next one – even the 5 hour journey there and back won’t put us off!! Thank you CMN!”

The Hoar Family

“ Thanks again for a wonderful weekend. Josh was feeling very shy and out of his depth prior, but this weekend has brought him out of himself and he is much more confident with school etc.

I believe that the activity weekend does more than meets the eye; the difference in Josh is great.

The Turner Family

“ These last two family activity events have had such a positive impact on our family it was great to meet other families who have a child with CMN and share experiences.

The activity weekend also gave Maddie the opportunity to make friendships and relate to other children with CMN. Being with others with CMN is really positive for our children.

The Valleekanthan Family

Check out the PGL website.

Check out our review of the 2012 Family Activity Weekend.

Check out our review of the 2011 Family Activity Weekend.

The post Family Activity Weekend – July 2013 appeared first on Caring Matters Now.

Wes and I had only been married for 9 months when we found out I was pregnant.  We were overjoyed at the thought of having a little one, it was like the icing on the cake.  Anna-Grace made her appearance a week early in the small hours of 23^rd March 2004.  When Anna was born the midwife’s wrapped her in a towel and briefly handed her to me saying  ‘Her face is clear’.  I didn’t have a clue what they were talking about.  All I wanted to do was hold my beautiful baby.  But this was not to happen!  Anna needed some oxygen, they said she was not well, that she had a large birth mark & needed to go to NICU (Giant naevi covering top half of body), It was all then a bit of a blur.  I needed attention so had to wait in the room whilst Wes went with Anna.  When I finally got to NICU I could at last see my little one.  Only she wasn’t so little she was 81bs 13.5oz & just about fitted into the incubator!   She looked so fragile in the incubator & I longed to hold her.  The midwife’s were very kind.  They said that once the paediatrician had been I could hold her briefly.  Whilst I was in the delivery suite, Wes said that he put his hand through to Anna & she immediately gripped his little finger so tightly that he knew this little girl would be a lot stronger than her parents could ever be.

The doctor’s had very little knowledge of Anna’s condition & were going onto the internet to get more information, it was scary that they didn’t know what was wrong.  They said she will need an MRI scan to see if her brain was affected!

There was no room to stay on NICU so I had to stay upstairs on the maternity ward. It was upsetting hearing all the mothers & babies together whilst my baby was downstairs. Although exhausted I couldn’t sleep all night as all that was going around my head was will my baby be al-right. I longed to be near her.

As soon as it was light we rushed down to see Anna & there was a room full of doctors & nurses.  They said she had a couple of seizures in the night.  So they were going to bring her MRI forward. Anna was put on medication for her epilepsy.

Every day we stayed there the doctors brought us more devastating news.  The MRI scan results showed that Anna had melanin pigments on her brain.  They said that she would need to be transferred to a bigger hospital for more specialist treatment. The paediatrician said she had found out that Dr Atherton at G.O.S.H. was doing research into the condition so we opted to go there. After two weeks on NICU at Kettering Hospital we went via ambulance to GOSH. It was a relief to get some answers to our now multiple questions.

A couple of nights into Anna’s stay I noticed she was not herself.  She wasn’t feeding as well & she had a strange cry. I just felt something wasn’t right.  I asked the Sister on the ward to come in.  She measured Anna’s head and it had swelled slightly.  It was quite late in the evening by this time & we were sent down to the Neurosurgery ward for an emergency brain tap. This confirmed Anna’s brain was swelling with fluid & she needed to have an emergency shunt operation.  We felt like we had been run over! Exhaustion & anxiety was at their foremost. We had three Neurosurgeons around Anna’s bed explaining what needed to be done & that Anna had developed Hydrocephalus a complication from her Neurocutaneous Melanosis. We looked at one of the Neurosurgeons & we asked if he would operate,  he operated the next morning.  The Neurosurgeon has been magnificent. It felt like an eternity waiting during the surgery. Anna was transferred to the Neurosurgery ward from then on. The staff on the ward were excellent and ever so kind to us.

Anna had another MRI scan & again the results were not good. I always remember the consultants asked us to leave Anna in her room & come into the parent room.  They told us that the scan showed some tumours on Anna’s spinal syrinx. They believed them to be malignant & due to the complexities of them untreatable.  After all Anna had been through I was stunned.  I couldn’t take it in.  The tumours were so rare they had never been seen inside a human body before. Yet again another completely rare condition.!!  They were so very kind when they told us. I remember thinking she can’t go now after all she has been through. Going back into her room & looking at my beautiful baby was heartbreaking, I just hugged & hugged her.

The neurosurgeon removed the tumours & sent them to histology when Anna was 2.5 months old. It was a very long & complex operation as the tumours were attached to the spinal cord. After the operation Anna had to lay flat & wear a specially made spinal jacket to keep her spine straight. We still have the jacket in the loft & will show her it one day. She wasn’t a fan of it at the time as it was made from padded plastic & it wasn’t the most comfortable thing to wear but was necessary. She had to wear the jacket for quite a few months.

We at last had some GOOD news, Anna’s tumours were Benign so the future seemed brighter once again. Our Anna-Grace was such a little fighter that after a week in HDU she recovered well.

A week later Anna got very sick & had green vomit. She deteriorated very suddenly & it was very frightening. Unfortunately the shunt had got infected in the brain & she needed to have strong Intrathecal Antibiotics to stop the brain fluid infection. It was so very scary seeing all these wires & tubes coming from Anna’s brain with strong drugs being administered this way. I was scared to pick her up, she looked so vulnerable. The nurses were amazing, nothing seemed to faze them. They could see my hesitation so they helped me to support Anna & encouraged me to feed her as usual. It was a bit tricky but we managed it together somehow. When she was in my arms she would look up at me & I could see she was comforted. I just wanted to run away with her & wrap her up in cotton wool. I felt so helpless seeing my baby going through so much in her little life.  After 2 weeks of Antibiotics Anna had her 2^nd shunt inserted.  It was a relief to have all the wires & tubes out off her brain. She looked so little laying there with her head all bandaged up.

We had been in hospital for over two & half months by now & didn’t want to leave Anna’s side. But the nurses could see that we needed to go out & get some air so they encouraged us to go out with some friends that had come to see us. We went rather reluctantly & I remember it seemed so strange going out & seeing everyone getting on with their lives. It was like we were in some kind of vacuum & life was on hold.

We were finally discharged to go home when Anna was 3 months old. Although we were thrilled to at last go home & start our new life as a family, it was a very scary prospect. Anna had such complex needs & through her short life we always had doctors & nurses around but now we were on our own! Our family were a great support but they all lived far away, We had the most supportive friends & their kindness we will never forget. We soon gained confidence & it was great to start family life at home.

Controlling Anna’s seizures was a challenge when she was a baby due to the weight fluctuations & she would have around 30 to 40 mild seizures a day. We are fortunate that Anna has an excellent Neurologist who managed to control the seizures well with medication & since then she only has the odd breakthrough seizure every now & then.

Anna has always shown such determination & strength. We were told she would never walk & would have severe learning difficulties but Anna had her own ideas! She taught herself to sit up unaided at 9 months which considering all she had been through was amazing. Around this time Anna sadly had developed Intra-spinal cysts where the spinal tumours had been. This was drained at GOSH. Anna had to lay flat for 24 hours after the operation. Which when she was younger wasn’t such a mission but Anna had now learnt to sit up & was very pleased with herself, so I spent the whole night trying to lay her down!! The consultants were amazed she could do this considering what she had just been through!

Anna has another condition called Dandy Walker Variant which really effects her balance. But Anna didn’t let this get in her way, just like everything else that she had to face she worked around it & just got on with a constant smile on her face.

The next few months Anna made good progress she taught herself to stand not like most children by holding on to something but by going to the middle of the room & with real effort & determination she would patiently try to stand up. When we tried to help she didn’t want it. Eventually she mastered it & was so pleased with her achievement. She started to walk at 18 months old. But due to all her conditions, she would take a few wobbly steps & then would fall to her knees. Then she would just pick herself up again & try once more. All the time with a smile on her face. We had special trousers made to protect her poor little knees.

Due to all the brain conditions Anna’s speech was very delayed. We knew she could understand everything we said & most times we could understand what she wanted but sometimes we couldn’t & you could see the frustration on her face. Anna had speech therapy & eventually she started to speak little sentences. Now she can communicate very well although for strangers I have to interpret at times. It is a joy listen to her speak & hear her cheeky sense of humour coming out.

When Anna was 2.5 years old she developed yet another condition. She was diagnosed with Progressive Syringomyelia. Which is again a condition affecting her spine. We noticed Anna’s mobility was getting less & less & she had started to get severe headaches, she would hold her head & cry. Her Neurosurgeon performed a Forum Magnum Decompression at GOSH which involved taking away some off her brain-stem & neck so the fluid could move more freely & not build up. I was heavily pregnant with Kaede our other daughter at the time.  Unfortunately over time the fluid still kept increasing so Anna had to have a Syringo-Peritoneal shunt inserted the month before her 4^th birthday. It was very scary Anna having two shunts. The later one can be more unstable than the 1^st due to where it is. This proved to be the case as a year later the shunt blocked in the stomach & had to be revised at GOSH. Since then the shunt has managed to keep the syrinx in the spinal area from getting bigger but sadly due to all the damage to her spine caused by these conditions Anna lost her mobility & spent the next few years crawling around. She could no longer sit unaided & needed full care for all her needs. Despite this Anna remains a very determined & happy young lady & has such a zest for life. She is such an inspiration. I am constantly in awe by the way she accepts what has happened to her & gets on with life with a great sense of humour & joy.

It was around this time that we met Dr Kinsler when she took over from Dr Atherton. We were so  delighted to have Dr Kinsler on board and her research, skills & support have been excellent. She has proved to be a tremendous & constant support to us throughout for which we will never forget.

Anna is a very beautiful 8 year old girl now. Like most 8 year old girls she is getting more aware of her appearance. We have always encouraged her to be proud of her special skin & although she is a lot more conscious of her appearance we hope this will continue.

This year has been extremely difficult. Sadly Anna’s mobility has reduced & she can now no longer crawl, she has developed Spinal Melanosis. It was thought to be malignant so she had to have a spinal biopsy to determine the nature of the melanosis. Specialist tests were performed by Dr Kinsler. The tests were to take around 6 – 8 weeks. Waiting seemed an eternity. As the biopsy was from Anna’s spinal cord it was quite a procedure so Anna took a few weeks to recover. When She was starting to feel better she would smile up at me & say ‘I’m happy, I’m getting better now Mummy’, it broke my heart but I would smile & say’ Yes my darling’. Every day I put on a brave face for the children. We started to film the children everyday so we had memories, it was so very painful!

At the start of the summer holidays I got a phone call from Dr Kinsler, The results were back & it was the best news ever. The spinal melanosis was Benign. Never had this been the case before. When I put the phone down I literally fell to the floor in tears of relief. Kaede & Luca came in worried, All I could manage to say was ‘Mummy is so happy’. I couldn’t wait to tell Wes the news. Tears of joy was on his & everyone else faces when they were told. We know things are still not great for Anna at the moment but having that news was amazing. As the melanosis is covering the whole of Anna’s spinal cord it can not be removed but we hope some treatment will be available to stop it growing.

Life has certainly been a roller-coaster but through it all Anna has shown incredible strength, determination & a real zest for life. She has melted so many hearts & once people have met her she has touched their lives. There are a few people in life that can reach people like Anna is able to. She truly is a very special little girl and she brings so much joy, I love her so very much.

The post Anna-Grace’s Story as told by Hayleigh Crowe appeared first on Caring Matters Now.

The event was held from Friday 21st to Sunday 23rd September 2012 at Boreatton Park situated in 240 acres of Shropshire countryside.

A video review of the weekend is below.

The post Family Activity Weekend – Sept 2012 appeared first on Caring Matters Now.