General informationPosted by Chris Hendriksz Fri, October 06, 2017 14:32
Memory is critical for normal life. Just rethink the last time you forgot something and how does memory work and how do you explain it to patients? Here is a short video that may help so just click here

Next challenge for us as doctors are how to we assess memory and cognition. A lot of work has been done in Alzheimers disease and I found the new toolbox they have create an interesting concept. I think it use maybe wider so if you want to look at it here is the link. Alzheimer toolbox

So if memory , Alzheimers disease are connected then the NICE pathway for dementia could be useful but only for common disorders. Here is the pathway documentDocument

But where are the rare inherited disorders with dementia? Forgotten again so here are a few but feel free to add to the list:
2. Wilsons disease
3. Niemann Pick type C
4.Lesch Nyhan disease
5. Sanfilippo disease and other Mucopolysacharidoses
6. X linked adreunoleucodystrophy
7. Refsum disease
8.Metachromtaic dystrophy
And so the list continues however not even a mention and just shows how hard a task we have to convince the non experts to consider these rare disorders.
Even more frightening is that although these disorders are rare if you combine tier incidences they are occurring more frequent that we would like to accept.
And this all started with memory so the next time you see a patient with memory loss do consider if it is progressive, associated with other features and don't forget about the rare.

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Niemann Pick type C disease

Educational aidsPosted by Chris Hendriksz Mon, August 28, 2017 22:24
Niemann Pick type C is a rare disorder of cholesterol trafficking with fascinating pathogenesis. The role of the NPC2 transporter became much more prominent with the Ebola epidemic a few years ago as well as many other more common associations. This again is a disorder with a wide clinical spectrum from neonatal jaundice to adult onset psychiatric disease. For the non expert the exam question which all the young doctors remember is the vertical supra nuclear gaze palsy and although this is an important sign it is a late sign and waiting for this to develop loses time for effective therapies. The other classical feature is galactic cataplexy or the feature where patients would lose muscular tone briefly and have drop attach usually trigger by laughing or crying. However more common features are ataxia and progressive neurocognitive decline. To try and help those with limited experience a suspicion index has been developed and a lot of other interesting information about this condition is available from the NPC -SI website. Visit it from here to look at all the tools.

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Tracking disease response

General informationPosted by Chris Hendriksz Mon, August 14, 2017 17:27
One of the greatest difficulties for researchers and clinicians are to track response to new treatments and what it means for patients. The new buzz word is PRO or better known as patient reported responses but this is causing real problems for rare disease patients. Firstly to track improvement you ideally need some historical data points which have been recorded before there was any therapy available. It should be repeatable and accurate and for that reason we ended up with many clinical trials using the 6 minute walk or 6MWT in short. Now if you ever want to cause a stir you just have to ask the opposite sides of the arguments about the benefits and limitations of using the 6MWT. However the arguments soon die down once you ask the question but what would you suggest as an alternative? The commonest answer is to use a PRO but which one and which of them have normative data and has been validated. And should they be general or disease specific or are we really heading to the situation where we will have to develop a disease specific tool for each disorder and then validate them?
Or can we really starting thinking outside of the box where we are brave enough to ask parents and patients to start building these tools themselves whilst there are no therapies or before they start any therapies.
So as I have already picked on the 6 MWT I just wonder if we encourage families to all use the same electronic application and then set the scene like this: On the first Monday of the month or the closest day to it when you are feeling well start walking at the same point from your home and walk the same route and let your application record your distance. If there are any factors influencing this like a sudden storm or anything else just record it in the comments box or pick another day for your assessment. You can improve this test by recording your heart rate before and after the walk and also using something called a Borg scale. This is frequently used in patients after a heart attack and gives some indication on how much effort it took to perform the activity. This way we will get some real life data but can also start to adapt it as some patients maybe walking the dog so why not include one of these walks as part of the assessment.
So if you want to read more about some of these topics and potential tools here are my suggestions:
1 Minimally clinically important difference for the 6 min walk test
2Health related quality of life in Mucopolysaccharidosis
3Worldwalking app

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General informationPosted by Chris Hendriksz Wed, July 19, 2017 19:38
Communication is the real essence of medicine. You need to be able to listen to the patient, ask the right questions and then explain your thoughts, the process and how you plan to get to the diagnosis. Once you get to the diagnosis you need the ability to explain the condition and the risk benefit of any treatment or procedure. It is usually the communication that fails which leads to rare disease patients being missed for many years. As doctors we are keen to talk and interrupt the patient story and frequently forget to listen or even ask the patient what they think. Many rare disease patients have had classical symptoms for years but it is the failure to listen that contributes to delay in diagnosis. The attitude of it is to rare to think about or I know best. There are two recent resources that I found very useful and would suggest that all parents, patients and doctors read and it is the book by Lisa Saunders called "Every patient tells a story- medical mysteries and the art of diagnosis". Lisa is better known for writing the series House but her book is insightful and full of great tips on communication and being an empathetic doctor. You can find details of her book here.
There has also been a lot of information in the press around Charlie Guard the little boy with mitochondrial depletion syndrome in London. I don't want to get into all the details and difficulties with this case but I found a blog post by Melissa Hogan which does give a parents perspective and again I think it is well worth reading her views to get some insights into how a parent experiences the medical system when you have a child with a rare disease. Her blogpost can be found here

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Sleep application

General informationPosted by Chris Hendriksz Tue, July 18, 2017 21:23
WE are frequently consulted about sleep pattern in children and how to try and improve sleep routines. A very useful application that can be suggested to parents can be find here:Kids Sleep Dr

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European Fabry Group guidance

Guidelines and protocolsPosted by Chris Hendriksz Thu, June 01, 2017 17:58
The European Fabry group which consists of experts from multiple countries have done a literature review and with voting developed a treatment guide for Fabry disease which can be found here.

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Treatment resource guides

Educational aidsPosted by Chris Hendriksz Thu, June 01, 2017 17:52
The critical information on any specific drug can be found from the manufacturers in what is called the SmCP also called the Summary of Product Characteristics. To find more information about what a SmPC is and its role read the article at the following website . It is also important to remember that drugs will have different packaging and different indications and rules so always check local guidance or contact the manufacturer. To help clinicians we have compiled a list of currently used drugs in Cystinosis, Fabry and Gaucher disease. This is not intended to advertise any drug or show any preference but to provide a next to each other summary of drugs that can be printed and laminated for use in clinic where needed. You can find the guide here -

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Examining the eye

Educational aidsPosted by Chris Hendriksz Tue, April 25, 2017 18:58
There is a saying that " the eye is the window to the soul " but in medicine the eye is frequently the window to diagnosis. Many rare disorders have eye abnormalities and to name but only a few : Eye movements-Horizontal gaze palsy in Gaucher type 3, Vertical Supra nuclear gaze palsy for Niemann Pick type C, external ophthalmoplegia of mitochondrial disorders to name but only a few. Corneal changes like clouding in Mucopolysacharidosis, cornea verticillata in Amiodarone therapy or Fabry disease or retinal changes in paroxysmal disorders or the amino acid disorder Gyrate atrophy. Examining the eye is such a critical part of the physical examination but frequently badly performed. The web site neurocular. com gives some great advice and tools so click here to see more.

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