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AGSD-UK Autumn Family Days
You can help your child with a GSD to enjoy a hospital visit.
Families attending either Great Ormond Street Hospital or Birmingham Children’s Hospital for GSD are welcome to come along to family days this autumn.
Connecting a community
AGSD-UK offers these days because we are trying to connect a community that is very spread out and often quite isolated. We also know that children with a GSD and their siblings benefit from relaxed and fun experiences at a hospital they usually only visit for assessment and treatment.
One consultant specifically noticed that children were more engaged and talkative at clinics after the Family Day we ran.
- Birmingham – Saturday 19th October.
- Great Ormond Street – Saturday 9th November.
Lots of fun and time to talk
As usual we will have face-paints, entertainers and crafts. Families have time to talk, meet others and share ideas and worries.
Nurses and dietitians will be there to offer advice.
High profle exposure for muscle GSD
McArdle disease and Pompe disease (GSDs 5 and 2 respectively) are both mentioned in this new series from Netflix and The New York Times.
“Diagnosis” is a groundbreaking documentary series from The New York Times, Netflix and Dr. Lisa Sanders that harnesses the power of you, our readers, to help find diagnoses for people suffering from mysterious medical conditions. Your ideas could potentially help save a life. Readers with the most promising suggestions may be included in an eight-part Netflix series that will air in 2019.
Angel’s history of rhabdomyolysis
In April last year the story of a young woman named Angel was written up on the website of The New York Times. Readers were invited to submit suggestions for conditions which might be the cause of her muscle pain and rhabdomyolysis. Angel’s regular hospitalisations had mystified the doctors for nine years.
Over 2000 people submitted their ideas and amongst them were several mentioning McArdle’s and Pompe. AGSD-UK’s McArdle coordinator Andrew Wakelin and IamGSD’s Jeremy Michelson were both interviewed over Skype for the programme.
Angel’s story has become episode one of the series and it is available now. In the final video, altogether McArdle’s is mentioned about eight times and Pompe twice. McArdle’s is briefly discussed in the programme. Nothing of Andrew and Jermey’s video interviews are included but Will Veazey from Mississippi makes a short appearance.
Final diagnosis not GSD
The likely diagnosis was narrowed down to just two candidates – McArdle disease and carnitine palmitoyltransferase 2 deficiency (known as CPT2), a disorder of fat metabolism.
Whole Exome Sequencing finally identified the diagnosis as CPT2, not McArdle’s. Never-the-less it makes some good exposure for McArdle’s and GSDs generally. Maybe some other young people struggling with these symptoms will get a head start to a diagnosis.
Photo: Angel, a long wait for a diagnosis. © The New York Times.
New way to keep up to date
AGSD-UK has now committed to posting an update on Twitter as soon as a news story appears on our web site.
Follow @AgsdUk on Twitter and you will get to know about our news stories just as soon as they are available.
Not got a Twitter account?
It is free and you can sign up here.
Photo: GSD news delivered promptly to your phone.
Your help is needed!
AGSD-UK is supporting the initiative by Genetic Alliance UK and Wales Gene Park to establish a Cross-Party Group in the Welsh Assembly to support patients with rare, genetic and undiagnosed genetic conditions.
Cross-Party Groups (CPGs) provide an opportunity for politicians and members of the public to meet and discuss a shared interest in a particular cause or subject.
Jane Lewthwaite, AGSD-UK’s Specialist Care Advisor – Pompe, said:
I am keen that our members make contact with their AMs and seek representation, so that GSDs have a voice in the Assembly.
Write to your AM
In order to get the group established, we need your support – please write to your local Assembly Member inviting them to join the group.
The Policy & Engagement Manager for Genetic Alliance, Emma, would be more than happy to join you to meet your AM and explain more about setting up the group. In order for this to happen, we need you to make contact with them in the first instance explaining why this is important to you.
If you make contact with the Assembly or write to your AM, please let Jane Lewthwaite know. Many thanks.
For any more information or support with the campaign, please email Emma Hughes at Genetic Alliance.
Photo: The Senedd of the Welsh Assembly, Cardiff.
The need for CK checks
For McArdle disease (GSD5) and some other muscle GSDs it is a good idea to get an understanding of your Creatine Kinase (CK) levels. This involves a series of blood tests to establish your baseline level – that is the level of CK you have in your blood normally, without any particular injury. Over a number of blood tests you can then establish your average level. Several research papers have reported the average level across many patients as being around 2,400 iu/L. If your baseline level is above this figure it may be a prompt to see if you can improve your self-management to reduce your baseline level.
The turnaround time for this test means it is not ideal for episodes where you feel you may need medical attention. CK is not the only factor, you must consider feeling very unwell and/or reduced urine output. However, a level of over 10,000 iu/L would certainly suggest that medical attention would be a good idea. This test could also be useful to check your CK level when you have a bad episode, to help you develop an understanding of the level of damage you have done in each scenario.
Problems with accessing CK checks?
With GP surgeries being overloaded, some people find it very difficult to obtain a timely CK check when they have an episode. Ideally you need to establish a procedure whereby you can go in to the surgery without an appointment to get a blood sample taken by a appropriate member of staff. Having to wait days for an appointment to have blood taken will undermine the value of the results.
The alternative is to go to the A&E department of your hospital, but there you may wait many hours and could even be refused a blood test. (For those with McArdle Disease, it should help if you take your Medical Overview booklet with you and show the section on CK.)
This is just an option. Obviously, stick with the NHS if at all feasible, but now there is…
A private alternative
Medichecks now offers a postal-based service for CK checks. You go online to their website and order the CK blood test, the pack will be dispatched by first-class post so hopefully you will very soon be taking the blood and returning it in the prepaid packaging. When opening your Medichecks account it is a good idea to put a comment in the reasons for testing section, about having McArdle disease (or other GSD) and that a high CK is expected, just so that the medical interpreter does not get alarmed.
The pack contains everything that you need and full instructions on how to take the blood. There is a helpline to call if you have any questions. The test requires a finger prick using the lancet supplied, then squeezing out enough blood to fillone of the tiny tubes. (It can be a little challenging to achieve the required volume but you soon get the hang of it.) You then seal the sample in the packaging and return it, post paid, to the lab.
You can have confidence in the results as Medichecks use fully accredited laboratories just like the NHS use.
The response time
Medichecks will put your result securely online and send you an email to advise you to log in and see the result. The quoted turnaround is 3 days from when Medichecks receive the sample. If when ordering the test you authorise your results to be given without medical overview by Medichecks, the result is likely to be available a little sooner. So if all goes smoothly, the whole process from ordering the test kit to receiving the result is a three to four day turnaround.
These turn around times are not really suitable for checking on severe episodes of rhabdomyolysis, when urgent medical attention may be needed.
If you still wish to use Medichecks, you can cut this turnaround time by about a day. Order a blood test to hold at home for when you need it. This will normally give you your CK result within about 72 hours of deciding you need it. (Just be aware that you have six months within which to use the test before it expires.)
An alternative more comprehensive test
Medichecks also offers many other tests. One is called “Baseline Fitness”, covering 16 tests (including CK). This is excellent value and could be of interest, but remember you are likely to need help in interpreting the meaning of any results which are out of the normal range.
Discount for AGSD-UK
We have negotiated a discount with Medichecks. When ordering your blood test online enter the discount code “GSD520” which gives 20% off the full price of tests. The normal prices are £39 for the CK test (£31.20 with discount) and £69 for the Baseline Fitness test (£55.20 with discount).
Please let us know how you get on
If you have difficulty accessing a CK test through the NHS and decide to give this private option a try, please let us know how you get on. Contact us via the “Message us” form.
Photo: the blood test kit from Medichecks is very well presented – with lancets, blood collection tubes (for CK you just fill one), protective packaging, disinfectant swabs, complete instructions and a pre-paid return envelope.