Rare Disease Day, 29th February 2012 : We need your help!
Posted: February 8, 2012 Filed under: Genetics | Tags: rare conditions, Rare disease UK, RDUK, undiagnosed Leave a comment »The 29th of February this year is Rare Disease Day 2012 and we need your help!
The children who are known to SWAN UK are often undiagnosed because their condition is very rare. This means that like adults with rare conditions, they can face long delays in getting the correct diagnosis.
SWAN UK’s sister organisation, Rare Disease UK has found that 46% of people with rare conditions wait over a year for a correct diagnosis from the onset of symptoms. Of this 20% wait for over 5 years and 12% wait for over 10 years. Some will never get a diagnosis.
Rare Disease UK, hopes that a national government plan for rare diseases will help to improve coordination of services so people don’t have to wait as long for a diagnosis. It will help people access good quality information, treatment, care and support whilst also facilitating research into rare conditions.
This year Rare Disease Day will focus on asking politicians to get in touch with the Secetary of State (or the health ministers in Scotland, Wales and Northern Ireland) to avoid further delay to the UK Rare Disease Plan and persuade him to launch the public consultation which we have been assured is imminent but so far has been subject to delays.
As their local constituent, you have the most influence over your local politician, so we would be very grateful if you could adapt the template letters provided below and email or post them to your local politician. We have left space in the letter for you to personalise in case you want to tell them why this is important to you.
There are instructions below on how to get in touch with your local politician and template letters to use depending on whether you live in England, Scotland, Wales or Northern Ireland. If you need any help or anything is not clear please get in touch with info@raredisease.org.uk
Please remember, when adapting the template letters delete the instruction e.g. “[Insert name of MP]” and remember to change the red font colour back to black.
We would be interested in hearing if you get a response from your politician as this helps us to identify who has an interest in rare diseases which aids us in our political campaigning work.
Thank you once again for your help.
Best wishes,
Stephen Nutt – Executive Officer
stephen@raredisease.org.uk – 020 7704 3141
If you live in England…
Please contact your local MP to ask him/her to write to the Secretary of State for Health, Andrew Lansley.
Download template letter for England
You can contact your MP by post or by email. If you are not sure who your local MP is, or if you would like to look up their contact details to email them, you can find this online at:
http://findyourmp.parliament.uk/
An easy way to contact your MP is through http://www.writetothem.com/
If you have any questions, you are having difficulty finding out who your MP is, or would like some further assistance, please contact Stephen Nutt on stephen@raredisease.org.uk or 020 7704 3141.
If you live in Scotland…
Please contact your MSPs to ask them to write to the Cabinet Secretary for Health and Wellbeing, Nicola Sturgeon MSP.
Download template letter for Scotland
You can contact your MSPs by post or by email. If you are not sure who your local MSPs are, or if you would like to look up their contact details to email them, you can find this online at:
http://www.scottish.parliament.uk/msp/membersPages/MSPAddressPostcodeFinder.htm
Remember you have 8 MSPs in total, 1 constituency MSP and 7 regional MSPs. If possible, could you send/email the letter to each?
An easy way to email all of your MSPs in one go is through http://www.writetothem.com/ - select “write to all your MSPs” after putting in your postcode.
If you have any questions, you are having difficulty finding out who your MSPs are, or would like some further assistance, please contact Natalie Frankish on scotland@raredisease.org.uk or 0131 651 4805.
If you live in Wales…
Please contact your Assembly Members to ask them to write to the Minister for Health and Social Services, Lesley Griffiths AM.
Download template letter for Wales
You can contact your AMs by post or by email. If you are not sure who your local AMs are, or if you would like to look up their contact details to email them, you can find this online at:
http://www.assemblywales.org/memhome.htm
Remember you have 5 AMs in total, 1 constituency AM and 4 regional AMs. If possible, could you send/email the letter to each?
An easy way to email all of your AMs in one go is through http://www.writetothem.com/ - select “write to all your AMs” after putting in your postcode.
If you have any questions, you are having difficulty finding out who your AMs are, or would like some further assistance, please contact Rhian Morgan on wales@raredisease.org.uk or 02920 687 646.
If you live in Northern Ireland…
Please contact your MLAs to ask them to attend the Rare Disease Day event to launch the Northern Ireland RareDisease Partnership and to contact the Minister for Health, Social Services and Public Safety, Edwin Poots MLA.
Download template letter for Northern Ireland
You can contact your MLAs by post or by email. If you are not sure who your local MLAs are, or if you would like to look up their contact details to email them, you can find this online at:
http://www.niassembly.gov.uk/members/constmap_res.htm
Remember there are 6 MLAs representing each constituency. If possible, could you send/email the letter to each?
An easy way to email all of your MLAs in one go is through http://www.writetothem.com/ - select “write to all your MLAs” after putting in your postcode.
If you have any questions, you are having difficulty finding out who your MLAs are, or would like some further assistance, please contact Stephen Nutt on stephen@raredisease.org.uk or 020 7704 3141.
RDUK Secretariat
Rare Disease UK
Unit 4D, Leroy House
436 Essex Road
N1 3QP
UK.
Deciphering Developmental Disorders (DDD) Study – Your questions answered
Posted: January 30, 2012 Filed under: Genetics | Tags: chromosome, DDD, Deciphering, deciphering developmental disorders, delayed development, genetic, SWAN UK, undiagnosed children Leave a comment »
SWAN UK is delighted to be working closely with the Deciphering Developmental Disorders (DDD) Study team to be able to answer questions that families might have.
After working on an initial set of FAQ we continue to work with the team to answer any questions that crop up. Recently parents have wanted to know . .
Q – “I have a question about the DDD study, and I wonder if anybody who knows more about genetics than me may be able to answer. I’m asking because the genetic tests that our child has had done to date have typically required taking blood (often in just the right way). I’m lead to believe that the DDD study will require a saliva sample.
What I want to know is whether the sequence of the human genome that they will come up with will be just as detailed as if they had taken blood. Will the geneticists be able to look at my child’s Genome sequence and tell us the results of all her previous tests? (e.g. Retts (CDKL5 and MECP2), Angelmans (several forms), SCN1A etc)”
A- “Good question. As far as we can tell so far, genome sequence derived from saliva is just as detailed as that from blood. For both, about 95% of genes are well covered. In theory we would be able to tell patients the results of most previous molecular tests (with a few exceptions), though we are not analysing the sequence like that currently so will not find out those results unless we specifically look for them.
DNA extraction from blood is a much more standardised technique, so I guess that’s why they use it in the NHS. But we really wanted a method of sample collection that could be done at home, that was non-invasive and the samples could be sent to the Sanger so we could use exactly the same method for extraction for all of them”
Q – Has the DDD study had any results yet? (asked nov 2011)
“I’m sorry to say that no one has any results from DDD yet. Getting the project up and running has taken quite a lot of time and resources, and we’re just getting our first set of results this month which we’re all very exciting about. Since this is the first batch, it will take us several more months to analyse them proprerly and make sure we are feeding back only relevant findings. We have a number of potentially interesting findings on our first set of exomes, but these need a lot more validation before they could be fed back. So I think people can expect to start hearing something from the arrays in the new year, but substantially longer for the exomes.
I’ll let you know when we do feed our first set of results back!”
Q – Is there is a difference between taking part in DDD and biobanks? will the samples from DDD end up in a biobank?
A – I think DDD is a disease cohort study, rather than a biobank. The key difference is that the DNA samples will remain within the Sanger Institute, and not be provided to other institutions. The data will be available to others for research (through a data access agreement) but the samples are not.
If you have questions about the DDD study please email them to SWAN@geneticalliance.org.uk
Deciphering Developmental Disorders (DDD) – FAQ Update
Posted: September 20, 2011 Filed under: Genetics | Tags: chromosome, DDD, deciphering developmental disorders, delayed development, disabled children, genetic, SWAN UK, syndromes without a name, unknown diagnosis 1 Comment »
“The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. To do this we have brought together doctors in the 23 NHS Regional Genetics Services throughout the UK and scientists at the Wellcome Trust Sanger Institute, a charitably funded research institute which played a world-leading role in sequencing (reading) the human genome. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. It has a Scientific Advisory Board consisting of scientists, doctors, a lawyer and patient representative, and has received National ethical approval in the UK”
Over the next few years the study aims to “collect DNA and clinical information from 12,000 undiagnosed children in the UK with developmental disorders and their parents”
The DDD website now has a frequently asked questions section to provide more information for families who might be thinking about having their child on the study. You can access the DDD to find out more by clicking here
There is also a new flowchart for families to help them understand the process and what to expect if their child is on the study which you can download here
DDD – Frequently Asked Questions
Q How can I participate in the DDD study?A. We are only recruiting patients through NHS clinical genetics departments, and all 23 genetics departments in the UK are actively recruiting into DDD, so please speak to your genetics doctor (geneticist) about the study. There may be some delay between enquiring about the study and receiving information or sample packs in some centres, but this should be solved soon and shouldn’t affect your ability to enrol in the study. If you haven’t got a genetics doctor or have never been seen by a geneticist or genetic counsellor, speak to your GP or specialist about getting a referral to your local clinical genetics service.Q. Is DDD using the latest technology?A. Yes, we are using a mixture of different technologies (arrays and sequencing) to maximize our chance of finding the cause of a child’s developmental disorder. All our technologies are very high resolution and are at the very cutting-edge of genetics research nationally and internationally.Q. What is the process and timeline for participating in DDD?A. The process for participating in DDD is described in our flowchart, which you can download and stick up somewhere at home to keep track of your progress.Q. How do I find out more about DDD?A. Please see www.ddduk.org for information about the study, and speak to your geneticist or genetic counsellor if you have any questions. You can also contact SWAN UK (Syndromes Without A Name; swan@geneticalliance.org.uk) or Unique (Rare Chromosomal Disorder Group; info@rarechromo.org)with any questions.
Eligibility for DDD
Q. Who is eligible for DDD?A. DDD is focusing on any children with undiagnosed developmental disorders. Your geneticist must decide whether your child meets the more detailed criteria for entry into the study.Q. What age range is eligible for DDD?A. Your child must be under 16 years old on the day of consent, which is a requirement of the ethics approval for the study.Q. Is DDD just for families within the UK?A. Yes; we will only recruit through UK NHS clinical genetics services and cannot accept samples from outside of the UK.Q. Will DDD accept families who have already had other genetic tests?A. Yes, so long as a diagnosis for the developmental disorder has not been found.Q. Will DDD accept children with only one parental sample?A. Yes, although we prefer to have samples from both biological parents if possible. Parental samples are important for sifting and interpreting the huge amount of genetic data generated by the study to try to find the variant(s) causing the child’s developmental problems. We are able to accept children into the study where samples from only one parent are available, but the chances of finding a diagnosis will be reduced. We cannot accept children into the study if there are no parental samples.Q. Are you only accepting children who are still alive?A. We can accept DNA samples (from blood) from deceased children into DDD, but a child must have been liveborn to be eligible for the study.
Providing your samples
Q. How quickly do we need to return our samples?A. Please try to return your samples in the FREEPOST padded envelopes provided within 2 weeks of receiving them. This ensures that there won’t be any delay processing your samples.Q. What child samples do you need?A. Ideally we would like a saliva sample from the child (and both parents) as well as a DNA sample previously extracted from blood at your regional genetic service if it already exists. However, we will accept children with just one of these samples – either just saliva or just a DNA sample extracted from blood. We will provide you with special tubes for collecting the saliva, with sponges to help with collection.Q. What happens if I spill a sample, spit in the wrong tube or break a tube?A. Please try not to spill the liquid in the lid of the tube, or break a tube. Although we can provide replacement kits – just get back in touch with your NHS genetics service and tell them what happened – the kits are quite expensive, and any budget spent on replacement kits means that fewer people will be able to take part in the study. Once the samples reach the Sanger Institute, the lab can work out if any of the family have accidentally spat in the wrong tube, so please don’t worry about correcting this.Q. How will you know which sample belong belongs to whom?A. All the sample tubes are labeled with a unique barcode, which was linked to your family at your NHS genetics clinic prior to sending the kits. This is all the information we need to link the data back to you. Please don’t send any further identifying information with your samples – we are trying hard to respect and protect your confidentiality, so all the samples are anonymous to the scientists at the Sanger Institute.Q. What happens if a sample fails?A. A sample may fail for a variety of reasons, including insufficient DNA (which varies between people), poor DNA quality, laboratory issues with processing the sample, or inconsistencies in the analysis. We will report back to the regional clinical genetics service simply that the sample has failed, but will not give the reason. If either or both parent samples fail, we will continue to process the sample from the child and remaining parent. At this time, we are unable to offer participants multiple attempts at providing a sample, due to budget constraints.
Results from DDD
Q. When will we hear back about results?A. We aim to feedback relevant research findings to clinical teams within a year of your child being recruited into DDD.Your geneticist or research nurse/ genetic counsellor will contact you if there are any results, as these will usually need to be validated within the NHS (which may involve providing another sample). We also intend to re-analyse all the DNA from the children in DDD at the end of the study (October 2015) so may report results any time until then. Your genetics department will also know at this time if we haven’t been able to find a diagnosis.Q. What information will you feedback?A. We aim to feedback only findings that are relevant to your child’s developmental disorder. We will not feedback other findings (such as non-paternity, or susceptibility to other diseases) even if they are clinically actionable. Our ethics research study is looking at this issue in more detail and we would welcome your views.
Other studies
Q. Can children already on the DECIPHER database be part of DDD?
A. Yes, if your child is still undiagnosed, but this is not automatic. Children need to be enrolled specifically onto the DDD project and you should speak to your geneticist about this.
Q. My child is already in another study – can they also participate in DDD?
A. There are many overlapping genetics studies, and it can be difficult to decide which one is most appropriate. However,in order to make the best use of limited resources and ensure that as many people as possible can get access to the latest technologies, it is important that we avoid overlap as much as possible. When trying to decide which study is most appropriate, read the study websites and ask your genetics department for advice. We suggest that you support studies where the data will be openly accessible for future research, as this maximizes the benefits for everyone, but cannot advise further. You need to make a choice as to which research project you prefer.
Q. My child is already enrolled in GOLD – can they also participate in DDD?
A. No, it is not possible to be in both these studies (see above).
If you have further questions about the DDD study please contact your Geneticist or SWAN UK on 0207 7043141 or SWAN@geneticalliance.org.uk
So what is your genetics appointment all about?
Posted: July 4, 2011 Filed under: Genetics | Tags: chromosome, disabled children, doctors, genetics appointments, SWAN ], undiagnosed Leave a comment »
The information below is taken from the EuroGenTest leaflet “Some Information About Your Genetic Appointment” which is available here http://bit.ly/jpdfru
Information for Patients and Families
This information has been prepared for patients and families who have an appointment to see a genetic specialist. The aim is to give you some information about why you have been referred to see the specialist, and what you can expect to happen during your appointment.
Why have you been referred to see the specialist?
Some of the reasons for being referred include:
- Because there is a genetic condition that happens in your family or your partner’s family.
- You or your partner have a child with learning difficulties, developmental delay or health problems. Your doctor thinks there may be a genetic link.
- You or your partner have a genetic condition that might be passed on to your children.
- You have had another type of test that is done during pregnancy (such as an ultrasound, nuchal translucency scan or blood test). It shows that there is an increased risk that your baby has a genetic condition.
- You or your partner have had a miscarriage or stillbirth.
- Particular types of cancer have occurred in several close relatives.
- You and your partner are close relatives and would like to have a baby.
- Your doctor believes that a genetic specialist may be able to provide you with additional information about your current health.
How will you be helped?
There are several ways that the specialist may be able to help you. Some of these are:
- Explaining the types of test available that will help confirm a diagnosis.
- Making or confirming a diagnosis.
- Providing information about the condition and how it is passed on.
- Discussing the risk that you may be affected by the condition in the future.
- Discussing the risk that future children may be affected with the condition if it already occurs in your family.
- Talking about ways of living with the condition and the medical, psychological and social support available to you.
- Answering any questions you may have about the condition diagnosed.
Before your appointment
It can be helpful for the specialist to have medical details about other people in your family, including those affected by health problems which may have a genetic cause.
Please bring the following details of family members as far back as your grandparents generation. Write them in the spaces provided.
| Relationship to you e.g. mother, uncle, … | Full Name | Date of Birth (and date of death if relevant) |
If appropriate make a note of:
- Their genetic diagnosis and details of any other health problems and the age at which they were diagnosed.
- When and where they were diagnosed or treated.
For affected family members you may be asked for their address and their family doctor s name and address.
We understand that it is not always possible to give these details. Information provided by you will be treated confidentially and will only be shared with other relatives or health professionals involved in your care with your permission. Relatives will never be contacted without your permission.
Bring any questions or concerns with you to your appointment write them down. You might also want to bring your partner or another relative or friend with you. If you need an interpreter, let the department know.
After the appointment it is likely that you will be sent written information that covers the topics that were discussed. This will help you to remember everything. You might also want to show the written information to other members of your family. Ask the specialist whether written information will be given to you and how soon you can expect it to arrive.
Eurogentest have a series of leaflets produced with patients and their families in mind. They offer accessible information on a range of subjects including the different types of genetic testing like carrier testing and the amniocentesis. You can see the full list of leaflets available here http://www.geneticalliance.org.uk/multilingual/index.html
Got an appointment coming up?
Posted: June 16, 2011 Filed under: General Info, Genetics | Tags: appiontments, disabled children, SWAN ] Leave a comment »How many times have you left an appointment with more questions than you went in with?
Driving home do all the things you forgot to ask keep popping into your head?
Next time, why not check this out this leaflet first?
It’s also quite a good idea if youalways keep the same notebook to take with you to appoinments, this will help you remember what you asked before (or forgot to ask) and you can make a note of anything important you need to remember without worrying you will lose the piece of paper you wrote it down on!
If there are any words you don’t understand (or know how to spell) you can also ask whoever it is you are seeing to write them down in your book so you can then look them up later or double check with another professional you see.
Make sure you let us know any handy hints you have so we can share them around!
Are you involved in the “DECIPHERING DEVELOPMENTAL DISORDERS” study?
Posted: May 23, 2011 Filed under: Genetics | Tags: children, chromosome, DECIPHER, deciphering developmental disorders, disabled children, genetic, mystery diagnosis, research, sanger institute, swan children, undiagnosed, unique, unknown diagnosis 3 Comments »Over the next 5 years a study based at the Wellcome Trust Sanger Institute in Cambridge called ‘Deciphering Developmental Disorders (DDD) is aiming to use the latest genetic testing methods to help understand why children get developmental disorders. Advances in testing chromosomes means that scientists may now be able to detect changes to chromosomes that they couldn’t see before so they may be able to make new diagnoses.
The study aims to collect information from 12,000 undiagnosed children and their families. It will be done by doctors from the 23 NHS Genetics Services (you can find your nearest centre here http://bit.ly/lmKkUm) and scientists at the Wellcome Trust Sanger Institute. Families who take part in the study will need to provide DNA samples from their child and where possible, from both biological parents. This will be done by providing a sample of saliva. You can find more information about this here (http://bit.ly/mAsIop) There will also be some questions to answer about your family history. The samples will go to the Wellcome Sanger Institute to be stored and analysed. The results added to the DECIPHER database using a code to protect the privacy and confidentiality of families who take part.
The DECIPHER database is an international database used by doctors and researchers around the world to help diagnose developmental disorders. Because the changes that happen to chromosomes can be very rare, sharing information across the world should help doctors and scientists learn more quickly so they understand more about rare conditions. You can find out more about the DECIPHER database here (http://bit.ly/ku9d5R)
According to the DDD study website (http://www.ddduk.org) “Families taking part in the study will have a unique opportunity to access the latest technologies to try and reach a diagnosis for their child. A diagnosis is important for understanding the cause and characteristics of your child’s developmental disorder, and advising you about how likely you are to have another affected child. Participants will also make a major contribution to the future understanding, treatment and prevention of developmental disorders”
If you have been approached to take part in the DDD study and would like to be able to discuss your decision with other families, or would be keen to help other families by sharing your story about how you feel about the study we would love to hear from you. You can contact us on SWAN@geneticalliance.org.uk or on 0207 704 3141.
There is strict eligibility criteria to take part in the study and you must be referred through UK NHS clinical genetics services and only certain developmental disorders will be appropriate – if you are not already under a regional genetics centre you will need to try and arrange a referral first before you can then see if you are eligible for the study. If you are not sure how to go about this please get in touch with us here at SWAN UK so we can support you.
You can find out more about the DDD project here: www.ddduk.org http://www.sanger.ac.uk/research/areas/humangenetics/ddd/
