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Funeral Arrangements

Wendy’s funeral has now been arranged for 11.20 on Wednesday 20 February 2019 at Worthing crematorium. As she requested, all friends and colleagues are welcome to attend. Dress should be bright as befits her spirit and personality. She has also requested that only the family should provide flowers. Instead if you would like to make a donation, Stickler Syndrome UK members may, if they wish, donate to the charity at our usual address. Otherwise all donations should be addressed to St Barnabas Hospice and sent to the undertakers, H D Tribe Ltd, 63 Sea Lane, Rustington, Littlehampton, BN16 2RQ.

Finally, Conrad, Richard and Craig send their grateful thanks to all who have sent messages of condolence. There are far too many to acknowledge individually. We hope you will understand.

Charity Announcement

We are saddened to inform all members of the death of our founder and president Wendy Hughes.  After a long battle with liver cancer she died peacefully at home with her family on 28 January 2019. Despite deteriorating health she continued to work tirelessly to further our cause with the NHS, Addenbrookes Hospital and other organisations.

The work will now begin to decide how we can take the charity forward.

Fancy a weekend all-in for only £30 per head?

then join us at the  

10th Stickler Syndrome UK Conference

Venue: Village Resort Hotel, Coventry, CV4 9GZ

Date: 3-5 November 2017

What you get:

A welcome drink, all meals and accommodation from Dinner on the Friday evening to lunch on the Sunday. Entertainment on Saturday night. Conference on the Saturday and Sunday

morning with all food and drinks supplied. AGM followed by lunch on the Sunday. Access to the hotel’s leisure facilities, including the swimming pool. Unless you wish to indulge at the bar or take part in some of the hotels paying facilities, you need not spend another penny.

Supervised activities led by licensed and vetted child minders will be provided as NO child under 12 will be allowed in the lecture room.

If sufficient young adults attend we may be prepared to provide facilities to enable a separate get-together to be organised.

Thanks to the generosity of those members who have raised money for the Group over the years we are providing a substantial subsidy to allow those of you on lower incomes to be able to attend and have an enjoyable weekend with other families. Unfortunately we have to charge for child care as that does not come cheap.

What you need to do next.

Complete and return the application form (Download) as quickly as possible. Numbers are strictly limited and places will be allocated on a first come basis with preference given to members. You can either send a non-refundable deposit of £10 per person to reserve your place or send the full amount. Either way the full amount MUST be received by 20 October. Don’t leave it too long as places will be snapped up quickly.

Further information about the conference and the venue will be forwarded to you shortly before the conference.


Report of the Stickler Syndrome Conference 2016

Village Hotels Coventry 21-23 October 2016

The 2016 conference began on Friday evening with a welcome drink and dinner, followed by a humorous talk by member Mark Best on How Not to Help the Blind, which allowed everyone to have a smile, laugh and relax with plenty of time for networking before bed.

Wendy Hughes opened the main day of the conference on Saturday morning by welcoming everyone especially our families who had travelled from all corners of the UK, as well as our cousins from The Netherlands and Ireland.  In all 92 members attended the conference.

Our first presentation of the day came from Dr Nick Shenkar who talked to us about  ‘Pain Management for the Stickler Patient.’

Dr Shenkar who offers a same day clinic consultation alongside Mr Snead’s (Thursday afternoon) began with an overview of the medical management of osteoarthritis. These included 1) joint protection 2) pain management 3) physical therapies along with 4) liaisons with surgeons. The first part of the presentation discussed the structure of the joint and the Stickler affect.

He talked about the benefits of working with the Stickler service in growing the understanding of the condition through contact with many patients and described how the understanding was continually developing and improving. For example trying to understand how the same gene can affect members of the same family in different ways both in terms of pain and skeleton structure.

He described how it is difficult to tell from an X-Ray how much pain someone may feel as the pain is not always defined by the structure and/or the shape of their joints. The biggest problem or concern for people is pain and how this pain can be managed and coped with because Stickler patient arthritis tends to come earlier in life which can have a significant impact on quality of life, particularly in relation to work and the family life.

Dr Shenkar showed some slides depicting a joint and described the different parts of the joint and how, as the cartilage frays or wears away it causes the bone to respond and try to re-grow which in turn creates osteophytes (bony spurs). This is something that is a normal part of the aging process, but can occur much earlier in Stickler patients. He described how the joint is supported by muscles, tendons and ligaments and how the stronger these are the smoother the joint tends to be. Therefore by strengthening these surrounding tissues the joint will be more supported and this should in turn reduce the level of pain, and he referred to this as joint protection.  In particular Dr Shenkar recommends improvement in core stability as this will support the spine, knees and hips.

In relation to the above Dr Shenkar discussed hyper-mobility as an impact on joint stability which may lead to increased pain and advanced in certain joints which is relevant to Stickler patients. He explained that both a history of hyper-mobility and an individual’s structure are the important factors for him to consider and this could offer an insight as to how an individual’s condition may develop in the future.

The second half of Dr Shenkar’s presentation focused on pain and pain management.

What is pain?

Pain is a sensation which is generated by the brain, but we don’t know how the brain works. We are getting much better at understanding the brain with certain tools, such as imaging tools and we know that the brain creates sensations and emotions and that pain is both a sensation and an emotion at the same time.

Dr Shenkar explained that in chronic pain, the emotional part of the brain is much more active and that one of the key roles of pain clinics is to get patients to accept the pain that they are in, and to admit they are struggling with pain which allows them to cope with the pain better and to allow them to function better, for example sleep. Sleep is one of the first things affected by pain which has a significant impact on life and mood etc. He also described that one thing he tries to explore is whether depression for example is a long standing experience or a reaction to particular set of circumstances and if so to address that particular set of circumstances separate to the pain rather than assuming the pain has caused the set of circumstances. If the circumstances affect sleep and mood then this can make the pain worse.

He discussed a bio-social model for pain which combines the structure (physical), social (family etc) and physiological (what does the patient want/expect).

The next step is to weigh up the benefits and risks of treatments and try to balance the risks. This next stage is what is most often considered ‘pain management’, medication. Dr Shenkar described this as what should be used to get through a bad patch and to cope.

He described the progression of pain management of which there are 3 pain killers all of which can be taken together.

1) Start with paracetamol (this is the safest form of pain killer with no long term risks or side effects)
Followed by:
2) Non steroidal (anti-inflammatory): generally what works best with osteoarthritis, though these do come with a greater risk. For example they can cause kidney problems, stomach problems, heart attacks and strokes.

3) Opioids (Morphine). Codeine is morphine, it’s inert so the body has to convert the Codeine to morphine however 8% of people don’t have the enzyme to allow them to do this. For others they may experience nausea, constipation etc. Dr Shenkar said that he is reluctant to advise more than 60mg a day as the body does get used to it.

As an alternative to the above:
– low dose anti-depressants such as Amitriptyline which works on the pain path ways.
– anti- epileptics, for the same reason.
For badly damaged joints, he recommended steroid injections for patents.

Summing up he described oesteoarthritis as a painful condition and he encourages his patients to rate their pain and the average is around 4-5. The aim for pain clinics is to get the score to 3 or less which tells him someone is coping with their pain.  4-6 the pain is starting to get in the way and higher suggests the patient is really struggling to cope.
For Stickler patients 65% will describe that the most painful joint is the knee which he feels is worth greater study and examination.

Dr Shenkar concluded his presentation with a short question and answer session from the floor.

Asked what recommendations he would make for children, he suggested seeing a paediatric orthotic who may advise on footwear, insoles, and exercises to strengthen the foot and/or correct abnormalities. This is alongside gentle expertise for example dancing, aerobic fitness to help with core stability. He suggested contact sports could result in ligament damage which is to be avoided and to help young children to help with pain he recommended Calpol.

Asked further on the question of exercise versus pain he described that it’s best to avoid exercise that causes impact pain. On the other hand exercise that causes stiffness should not necessarily be avoided. Muscle pain can be expected and would improve whereas clear joint pain should be avoided.

After a welcome coffee break, Sister Anne McNinch, our own Specialist Stickler nurse talked about herRole within the NHS Stickler Diagnostic Service’

Annie started her presentation by saying as someone not used to public speaking she felt under interrogation facing an audience of not only her bosses but a room full of folk with Stickler Syndrome.  Basically, she demands action and sorts out problems!  She was the only applicant for the job; there was no job description and she had no idea what the job entailed.

On her arrival in the genetics laboratory, the first question from Dr Allan Richards was “Can you sort out the filing?”  On examination there were three categories – Miscellaneous, More Miscellaneous and Even More Miscellaneous.

The first task was sorting through years of research – not much different from dealing with her family’s bedrooms at home!

It was suggested that she could create a database so duly enrolled on a course – was soon clear that she was well out of her depth so the next strategy was a visit to Wendy to find out what the patients needed – the answer – Someone to Care.

The database was created and the filing done but primarily Annie’s role is to make sure that patients have someone to identify with, even if for the children this is an association with the DROPS.

When not controlling the Stickler Clinic, Annie is found in the laboratory dealing with blood samples and the results.  (The scientists never see the patients – their role is to analyse the results.  Annie sends out the results to the Consultants, GPs and other professionals as required.

Numerous letters are written to schools, universities and other agencies, including Benefits and supporting patients.  Overseas patients are also liaised with.  Emergency appointments are arranged, whether in or outside normal working hours.  Clinic appointments are made along with overnight accommodation if necessary.  Blood sample packs are despatched and arrangements made for storing DNA at various hospitals.  Where there are positive results of Stickler syndrome, arrangements are made for wider testing throughout the family.

On clinic days  there are drops to be administered, blood tests, coffees to be made and guide dogs fussed over (Annie listed many other functions – so many I couldn’t make a note of them all but you get the general idea that all this leads to a very demanding job.  There are now nearly 2,000 patients  and Annie can remember them all!   Her role has become “The Mother Ship”

Questions from the floor included requests from Europe and a E112 needs to be filled in.

How easy is it to get a referral to Mr Snead at Addenbrookes?  It is free – go to GP and ask for referral.

How does one get a referral to an Orthopaedic Surgeon?  Mr Graham Kean is the hip specialist at Addenbrookes and she suggested that your orthopaedic surgeon writes to him, and your GP can also request a referral to Mr Shenker.

After a delicious buffet hot and cold lunch, and another networking break the afternoon commenced.  Our first speaker was Mr Martin Snead who gave us a Genetic Analysis of Stickler Syndrome.

He began by saying that retinal detachments are rarer than generally appreciated, only about 1 in 10,000 of the population per year. Also contrary to popular belief they are not usually due to injury as over 80% have some sort of genetic relationship, either a specific condition or just running in family or sibling groups.

DNA is our genetic material. In most of our cells it is mostly ‘switched off’, as each cell will only need a fraction of the proteins it makes for its structure and function. Our DNA is divided up into exons which are the areas which code for new proteins, and introns (by much the larger amount) that does not.

Type 1 Stickler Syndrome is usually caused by a premature termination code in the COL2A1 exon that makes Type 2 collagen. People with this mutation still have one ‘normal’ gene so their cells still can make Type 2 collagen, but only about half the amount (haploinsufficiency), and this is very important especially in the developing embryo as there is not enough collagen 2 to make complete and strong structures.

There are two other types of mutation, a point mutation where just one code is replaced by another one, and a deletion mutation which means that just one code letter is missing.  Both of these will also make faulty collagen 2 as it means the protein doesn’t have the right shape and can’t be used in structures. This also leads to haploinsufficicency, and Mr Snead had some amusing animations about codes to make the word cake to illustrate each of these types.

DNA sequencing to find out these errors has advanced amazingly in the last 20 years. Whereas 20 years ago you needed several family members over several generations and large blood samples, now it can be done on one individual from a small sample.

The gene is composed of about 50,000 ‘letters’, making up about 5000 ‘words, and in the old days you would need to look at them all. New techniques mean that any changes are picked up much quicker.

A very few cases of Stickler Syndrome are caused by a dominant negative mutation. In this mutation there is still one ‘normal’ copy of the gene however the mutated gene interferes with how it works so that there is no, or very little, collagen 2 made. The effects of this type of mutation are much more severe.

We now know that there are at least 9 types of mutation causing Stickler Syndrome, which were shown on a table on the screen.  Types 1 and 2 are the most common and the others are rarer. It is important to know what type of mutation it is because that will determine what type of symptoms to expect, although we all know that not every symptom will be present in every individual, even in the same family with exactly the same mutation.

The team at Cambridge are currently carrying out some interesting research into how DNA influences the susceptibility of the retina to tears and detachment. In a patient called ‘Mr A Smith’ with detachment we found that there was variation in his DNA in the intron, the non-coding region of the gene. They analysed the DNA of 300 patients with retinal detachment and 300 without retinal detachment and found a higher association to retinal detachment in those with the variation. They knew that this variation is linked to the binding of a growth factor important in eye growth.

This is interesting because they know that the growth of the eye in Stickler Syndrome is unusual from before birth and leads to short-sightedness, often to a high degree due to the abnormal shape of the eye. Also in Marfan’s Syndrome there seems to be a similar involvement of this eye growth factor.

The next stage in their research is to investigate in more detail the mechanism and significance of this.

Mr Snead’s  presentation was followed by a presentation by Mr Philip Alexander titled Retinal Detachment treatment and prevention.

He started by saying that the retina is the light-sensitive layer which lines the inside surface of the back of the eye. In area it is about the size of two stamps and is about as thick as two sheets of paper. It is composed of 10 different layers and to a ‘nourishment’ layer which provides all the cells with the oxygen, glucose and other molecules they need to function, as well as removing the waste products like carbon dioxide.

The layers are held to the ‘nourishment’ layer by suction, and as you can imagine any ‘holes’ in the layers will reduce to force of suction holding it in place.

There are three reasons for the failure of the suction

  • Exudative – a failure of the suction mechanism itself
  • Rhegmatogenative – holes or tears in the retina layer
  • Tractional – pulling away of the retina layer, as in serious injury

About 7000 people in the UK each year have a retinal detachment and the high risk factors are:

  • myopia
  • advancing age
  • family history of detachment
  • previous detachment(s)
  • eye trauma
  • genetic condition

The symptoms include flashing lights, floaters and shadows or curtains.

Possible treatments will depend on the type and severity of the detachment, as well as the experience and expertise of the surgeon.

1. No treatment. Some small detachments will reattach with rest.

2. Laser treatment. This does not reattach the detached area but will stop it getting any larger. An alternative way of doing this is with a cryroprobe (freezing) from outside the eye.

3. Surgery.

  • This can be done externally where a ‘buckle’ is attached to the back of the eye to push the ‘nourishment’ layer inwards so that it meets up with the detached area and the suction is re-established.
  • Alternatively it can be done internally where a bubble of gas, or oil, is put inside the eye to push the retina back onto the ‘nourishment’ layer and hold it there. Gas will only last for a certain time so sometimes oil is used to last longer, but is does need to be removed unlike the gas bubble with dissipates.

He then talked about preventative treatment

This can be done with a laser or by cryoprobe to make spots of adhesions around the back of the eye to try to prevent the retina from detaching.

Why would people with Stickler Syndrome consider this for themselves and/or their children?

Retinal detachment and tears are very common in SS, 60 – 80% of Type 1 sufferers have a retinal detachment or giant tears, and  of these about 50% have a detachment in both eyes.  There is a very poor prognosis for children who have a detachment as they tend to go on to have more detachments and loss of sight. There is a very specific presentation with giant tears at 90° and on the edge of the eye.  Therefore it was important to try to find out the worth of doing the preventative surgery. You cannot do a proper trial as that would not be ethical, so a study was devised which is ongoing and which needs to still run for longer and to involve more patients to make the statistics even stronger. So far the trial has 150 matched pairs of patients who have been followed for up to 20 years.

The study does show that cryotherapy applied in a careful and consistent manner as carried out at Addenbrooke’s, in Cambridge, does reduce the risk of retinal detachment in Stickler Syndrome Type 1 patients significantly.

The ‘take home’ message for all Stickler Syndrome patients is ‘be aware’ and if you have any symptoms which might indicate retinal detachment act quickly. Watch children carefully, educate them early about symptoms and have them checked regularly and consider preventative cryotherapy.

After a welcome break, Wendy closed the official part of the conference saying it was now time to relax, network and enjoy the rest of the conference.

The evening ended with a red carpet being laid outside the main area, a three course meal and a disco.  It was so good to see so many people up dancing ranging from a wheelchair bound lady to the children strutting their stuff and obviously having a whale of a time.

Sunday morning after a leisurely lunch Lisa Johnson, one of our members with a son with type 1 Stickler syndrome presented and led and a forum on  Prophylactic Retnal surgery for children with Type I Stickler syndrome.

Following the presentation of the slides the audience were asked to speak out and share their experiences. A significant number of the audience had either had the prophylactic surgery themselves, or had a member of their family who had received the surgery. Most had the surgery performed by Mr Snead at Cambridge (cryotherapy), but some had laser surgery performed by other surgeons such as Mr Charles at Manchester Royal Eye Hospital. The age at which the surgery was performed varied from about 4 years of age to adult. Those that had experience of supporting their young children after surgery found that recovery was very quick, a couple of days, with the only symptoms being swollen eyes. It was a common experience that the children recovered from the surgery faster than the adults. Additionally, family members reported that young children actually retained no memory of the surgery at all. Some families reported having had the surgery performed in one eye subsequent to a giant retinal tear or other tears discovered in the other eye. One family reported that their 8-year-old son experienced a giant retinal tear and did not report it to his family early enough to have the sight saved in that eye. This indicates that even with older children there is a risk of late reporting of symptoms potentially due, in some cases, to slow progression. No one in the audience had experienced a failure post-surgery, i.e. a giant retinal tear. Experiences were overwhelmingly positive and when asked if anyone had any negative experiences to share, a resounding silence filled the room. One member had received advice from surgeons in the USA who did not recommend the surgery, this member had also received the same advice from a consultant at Moorfields. Subsequent to the conference I received an email from Mr Ezra, Consultant Vitreoretinal Surgeon at Moorfields Hospital, London, stating: “I would confirm that as a Vitreoretinal unit here at Moorfields consisting of 9 consultants, we all share the same policy of not treating asymptomatic Stickler’s eyes.  A few years back we wrote a letter to one of the ophthalmic journals regarding our views and I would be happy to pass this reference on to you if you wish.  I do not think that anything has changed since that time and as a group we regularly discuss Stickler’s treatment and naturally if any new data is forthcoming we would review our position and policy. I would be very happy to participate in any future conference and perhaps we can discuss setting a discussion to review the various sides of the argument as regards to treating asymptomatic Stickler’s patients.”

Following on from the conference, we feel that we are no further forward really. I think the benefits of the discussion for me were than I no longer worry about the actual adverse effects of the procedure itself causing suffering for my son, it seems that the children do not suffer greatly following either laser or cryotherapy surgery. However as to whether we should go ahead or not, it is difficult to make that decision when one very respected UK hospital advises strongly against it. I have asked Mr Ezra for some further information, if I receive a reply, I will update the Stickler Support Group.  Lisa ended by saying she would like to thank all who participated in the session – that alone made the session successful – and she said it was useful and enjoyable for everyone who attended.

After a quick break we had a short Annual General meeting, and Wendy stated that the group had come a long way since she founded it 27 years ago.  Then the average age of diagnosis was thirty-two years, now it is being picked up birth giving patients a much better outcome.  Wendy also said that the last three years have not be good for her health-wise and she would like to a lesser role in a year’s time, although she did stress that she would not be disappearing and would still liaise with  the consultants and attend meetings such as the meetings with NHS England.

There was just enough time left for last minute networking before Sunday lunch was served and goodbyes.

It is hoped, funding permitting, to hold another conference in 2017 and once this is confirmed an notice will appear on the website.

Bayer Ophthalmology Honours for Mr Snead and his Cambridge Team

Stickler Syndrome UK has great pleasure in announcing that at a ceremony held on Thursday 1 December 2016 at the Royal College of Surgeons in London, the Stickler Syndrome Service were commended in the “best team” category. The national Stickler Syndrome Diagnostic Service was a very strong entry with successful patient pathways linked to research and very strong patient support. The judges described the team as ‘very specialist’ and world class.’ It is an excellent example of multi-disciplinary working that can he applied to other areas. They were also the winners in the category of “best MDT team” working in the field of Ophthalmology. The clinic came about as a result of the research and MDT service. In 2011 the Department of Health commissioned the team to provide the now National Stickler Syndrome Diagnostic Service for all patients in England with Stickler syndrome. Health boards access the service via their own commissioning arrangements ensuring that all UK NHS patients have free access to a true MDT service unparalleled anywhere else in the world. This is a great achievement both for Addenbrooke’s and for the Stickler service and I am sure all our members will join me in congratulating the team who work tirelessly on our behalf to improve the time of diagnosis, identify and improve methods of dealing with repeated retinal detachments and continue to research all aspects of this grossly under-diagnosed progressive condition, so that those affected can understand the problems associated with this multi symptom condition and learn to live within its restrictive confines.