VHLCG - Information about VHL

Members contributions.

Minutes of meeting held on August 3rd 2009

Minutes of the Trustees’ Annual General Meeting of the Von Hippel Lindau Contact Group held in Bury on Monday 3 August 2009

(Registered Charity Number 1000722)

Present: Charles Foster – Trustee; Adrian James – Treasurer and Trustee; Jean Murray – Trustee; Mary Weetman – Co-ordinator; Philip Weetman – Minute Secretary.

Minutes

The Minutes of the AGM held on 12 April 2008 had been circulated and were accepted.

Co-ordinator’s Report

Mary reported that there had been eleven new contacts during the year. This brought the membership to over one hundred. Contact with members varied and some had not been heard from for several years. All are contacted each year with a notification of the group’s Annual Conference.

Unfortunately, this year, because the number of people registered to attend fell to only eleven by the close of the registration date, the Conference was cancelled at short notice. The reasons for this were as follows: (i) It was thought to be unfair to the invited speakers to take up their time to address such a small number; and (ii) the Nowgen Centre is much sought after as a conference centre. Mary considered it only right to let the manager know that the meeting would not be held, so that another group could use the facility.

Those members who had booked a place, contacted Mary by e-mail expressing their dismay, hoping that this would not be the end of the annual meeting. Copies of the e-mails were made available to the Trustees. Some made suggestions for alternative arrangements. It was agreed this would be considered later in the agenda. Mary suggested that, subject to the discussion, she would contact all members to seek their opinions, as was done before the Conference last year, but with little response.

One of the factors which did emerge from those who did respond last year, was that the getting together with other families and sharing experiences was of great value to them. Also Easter was not considered a good time to hold the Conference as it coincided with school holidays. This was the reason for changing the date of the proposed 2009 Conference to 9 May.

Younger members of the group wished to have ‘on line’ contact. Mary reported that this had been established through ‘Facebook’ thanks to Lauren’s work and was being used.

One member of the group was reported to have successfully completed a nineteen mile walk to raise money for VHLCG. The full amount has not yet been clarified, but is thought to be in the region of £1500.

In the meantime, the personal contact which Mary has with members, by phone and e-mail, seems to be of value to them, and she is happy to continue with this.

Mary’s Report was unanimously accepted.

Treasurer’s Report

Adrian circulated a copy of a Statement of Accounts as at 31 March 2009 (attached) and presented his report. This was accepted unanimously by the Trustees.

Matters Arising and Future Plans

The Trustees read the six e-mails received from members, representing themselves and family members, expressing their disappointment at the cancellation. One admitted their lack of response – though intended coming. Others had made arrangements to attend but understood the background to the cancellation. Another suggested a more informal day when families could meet and chat – that contributor emphasised the value of ‘speaking the same language’ with those who understand VHL.

The Trustees had a lengthy and sympathetic discussion about the dilemma presented by having too few people to justify the use of the spacious and much sought after facility afforded by the Manchester based Nowgen, when set against the needs of members. The possibility of holding meetings in a variety of locations round the country was considered; the equity of this in sharing access to events countrywide had to be set against the additional cost in hiring rooms elsewhere.

It was finally agreed that a questionnaire be circulated among members seeking their views as to future activities. A dead line would be set for completion and Trustees would consider the response.

Trustees Date

Information about Pre-natal genetic diagnosis.

The following paper was given at our conference by Linda Willis.

Genetic Counsellor. St Mary's Hospital. Manchester.

Linda's paper was entitled 'Prenatal Options'.

The objectives of prenatal diagnosis is to

1 Allow choice.

2 To provide reassurance.

3 Maximise options.

4 Prepare parents.

Issues in Prenatal testing for VHL.

What is the aim?

How would it benefit you?

What would you do with the information?

Would you continue with the pregnancy?

What are the psychological aspects?

What are the health implications?

What are the alternatives? e.g. screening in childhood

Prenatal diagnosis in VHL.

In 95%of cases of VHL where a mutation is found the options are

Chorionic villus sampling (CVS) at 11weeks gestation

Amniocentesis at 16 weeks gestation.

Preimplantation genetic diagnosis.

CVS. An invasive test done under scan control.

Results available in 1-3 weeks.

Miscarriage risk associated with the procedure 1%.

Usual risk of miscarriage at this gestation 2-3%.

Amniocentesis.

Invasive test at 16 weeks gestation under scan control.

Results available in 10-14 working days.

Miscarriage risk 1-300 now quoted at St.Mary's.

Preimplatation genetic diagnosis.

A diagnostic service.

Specialised treatment.

Uses assisted conception.

Has limitations and risks.

An alternative to prenatal diagnosis and termation of pregancy.

Usually fertile couples, and can be their preferred option.

Should have had genetic counselling.

PGD IS CHALLENGING.

Technically, emotionally, physically, psychologically and financially.

Where is it done.

Guy's and St.Thomas's Hospital. London.

University College Hospital. London.

Care in the Park Hospital. Nottingham. (private)

London Bridge Hospital.

How much does it cost?

£6550 per procedure inclusive of drugs.

6 consultations.

Expenses incurred in attending hospitals.

? P.C.T. funding

PGD must be done in HFEA licenced hospitals.

Accessing PGD.

Combined referral to assisted conception unit and genetics.

Team discussions of feasability of offering PGD.

Issues for discussion.

Previous history, other options, why PGD, blood tests and semen analysis, funding, and the possibility of misdiagnosis.

Success of PGD.

Success rate is low.

Depends on the number of transferred embryos

Age of woman, success rate diminishes with increased maternal age, no successful pregancies at 40+.

Success rate at start of cycle-20% or 1:5

Increases to 30-35% if embryo in transferred.

If apositive pregnancy test, there are still some risks: 30% miscarriage risk and 2% of an ectopic pregnancy.

Fertilisation.

Ovarian stimulation and its associated risks.

Egg collection

Fertilisation in the laboratory.

Cell biopsy (day 5)

Diagnosis within 24 hours.

Option of prenatal tests

Paediatric follow up of the baby.

Outcome of testing.

Affected embryo

Unaffected embryo.

Failed test.

Results are not 100% accurate, but the misdiagnosis at Guy's is1%.

PGD in VHL

In the early stages, only available since December 2007.

Some couples have been seen for initial consultations.

So far no cases have reached the PGD. stage.

Results of PGD for all conditions at Guy's Sept. 1997-Jan 2008.

585 cycles of PGD to date.

472 have achieved egg collection

398 (68%) have proceeded to embryo transfer.

139 clinical pregnancies

130 babies born

20 ongoing pregnancies.

Linda said that T.I.M.E. was essential in considering PGD. for VHL.

Time to talk and discuss all the many facets of the procedure.

Information to be given and its implications understood.

Management by genetic and assisted reproduction units outlined.

Explanations throughout all the processes need to be given.

Linda's talk provoked much interest and discussion and we are grateful to her for her time in preparing her paper, and attending our conference.

If you would like a copy of Linda's paper please contact me by e-mail maryweetman@waitrose.com or by phone on 01204 886112.

Other information id available from:

Ms. Alison Lashwood.

Clinical Genetic Department.

7th. Floor. New Guy's House.

Guy's Hospital.

LONDON. SE1 9RT.

Tel. 020 188 1364.

www.guysandstthomas.nhs.uk/genetics.

Insurance matters

Money matters.

I have recently had some literature from Freedom travel insurance who provide holiday insurance for people with pre-existing medical conditions.

They are involved with other groups such as are own, and so are aware of the difficulties involved for our members.

They can be contacted onwww.freedominsure.co.uk

or e-mail information@freedominsure.co.uk.

Tel. 0870 774 3760 /01223 454 290

or write to Freedom Insurance . Richmond House.

16-20 Regent Street. Cambridge. CB2 1DB.

Happy hols.

Mary.

Amanda's Walk

Dear All,

Yes I did it! A very big thank you to everyone who sponsored me.

I have raised just over £2000 so far, more than £1500 going towards VHL which is fantastic.

The walk was incredibly hard, I don't know if it was worse than I thought it would be, having never done that sort of challenge before none of us had any idea how we would cope.

I felt we started off better than many because thanks to Lucy and Stevie we had the loan of their house and beds before the walk which meant we did not have to camp. Camping on a hill, getting up at 6 am and then walking 100 km, no way!!

The weather was perfect for the first 6 hours, sunny but not scorching like we had been having the few weeks before. It rained late afternoon and early evening, not hard just a drizzle, so frustratingly I needed to wear a coat to stop me getting wet and then cold, but the coat made me sweaty at the tops of the hills. It caused a lot of indecision (and laughter to other team members) at 2 am when my energy levels were down and my brain muddled and I struggled to decide whether or even how to wear my coat.

The route was beautiful, along the South Downs, with views across to the sea. It is a hilly terrain with much of the route flint so really hard underfoot which did not help tender feet and blisters, many of our party suffered severe blisters; I was lucky and hardly suffered at all. However, my knee gave out half way round which made the down hills really painful, whereas Iain's knee gave up on the up hills! Thank goodness for Becca's walking poles.

We had a fantastic support crew who were there to cheers us on at most of the 10 check points and provide us with food, drinks, blister plasters and massages. One of the crew even dressed up as a clown to cheer us all on, made even funnier when the police stopped her at 3 am accusing her of nicking the Fire Station people carrier as she drove to the next check point! Because of the support crew we only had to carry bare essentials, snacks and those disgusting isotonic drinks that I shall never drink again. Thanks to Pete F for the loan of his very comfy day pack.

We made cracking time at the beginning passing people who had started 2 hours before us, great moral for us, fairly devastating for those passed. Check point 5, half way through is a known low point where many teams give up. I wasn't too bad then, night was falling so it added a different outlook on the walk. My low point was 3 am, energy levels right down, so much so I managed to doze off in one of the revolting portaloos, and I was sick! So I had a rest which really saved me. The last 5 km into Brighton racecourse seemed to go on for ever. By now some of our team were really struggling and keeping everyone together was difficult, those who just wanted to get it over and done with verses those who just couldn't. However both our teams walked across the finish line together after 24 hours 47 mins walking!

The gurkha curry we were promised was fantastic, just what I needed.

500 teams of 4 took part in the event, we came in 200th. 100 teams dropped out and the first 100 ran the event, the fastest time being 10 hours 44 mins (not the record).

Looking back on the whole event I am really pleased to have done it. It was so hard at the time, the length of time it took was almost the worst part but I seem to have been really lucky and have no lasting injuries. Within 24 hours I would have been back to normal except I went off to Camp Bestival with the children and a big gang, slept on a hill in a tent, surrounded by thousands of people and had music pounding away until 3 am!

As time passes I have been out walking again, not sure repeating the challenge will happen (if it is ever mentioned just remind me of isotonic drinks, blister plasters and actually enjoying spending time sitting in a portaloo? ). I enjoyed the training, as did my dog, and whatever Vanessa and Becca say, so did they, but I have promised to slow the speed in future!!

To all those who supported the VHL cause the money will be sent to Prof Maher at the genetics research department of Birmingham hospital.

Love and Best wishes,

Amanda