Cardiomyopathy and Cardiac Issues
As little research has beeen done on the FA heart Dr Mark Payne has created the following list of the TOP 6 THINGS YOU SHOULD CALL ABOUT.
He says that ‘as Friedreich’s Ataxia is a Mitochondrial disease then sufferers have Cardiomyopathy by definition.’
- Fast heart rate : >120, you can’t count it, it does not stop
- Passing Out
- Severe Chest Pain : Left sided, it does not go away ( this is rare but requires immediate attention)
- Irregular Rhythm : you can feel it
- Shortness of Breath : new onset, exercise
- Loss of Endurance : you can’t get through the day, change
*Read Dr Payne’s the recent article The heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications here. It provides a review of the basic findings of the disease and the cardiomyopathy associated with it.
Journal of Neurochemistry – August 2013
The International Society for Neurochemistry and Wiley recently published a special issue supplement on Friedreich’s Ataxia. It look at Friedreichs’ Ataxia over the past 150 years. If you are interested in reading at the articles, click here.
In Focus: Friedreich’s Ataxia
The article includes FA facts, an update on current research, a Q & A with neurologist Susan Perlman and interviews with cardiologist Mark Payne, Physical Therapist Melinda Guttry and Speech-Language pathologist Anne Wallace. There are also several profiles of people living with FA.
We think it’s well worth a read! Click here to read the article.
Current and Emerging Options for Treating Friedreich’s Ataxia
The Dove Press Journal: Neuropsychiatric Disease and Treatment recently published an article on The Current and Emerging Options for the Treatment of Friedreich’s Ataxia. It is a comprehensive article that reviews current and possible future treatments. To read the article click here.
Clinical Guidelines for the Management of Ataxias (Ataxia UK)
Ataxia UK recently updated their Clinical Guidelines for the Management of Ataxias for healthcare professionals. Athough the Guidelines include information about other ataxias and some of the details are a little technical, they do provide a very comprehensive guide to the diagnosis, medical interventions, disease modifying treatments, therapies and research relating to FA. It’s no secret that Friedreich’s Ataxia only gets a couple of paragraphs in most medical school books so why not print off the Guidelines and bring them to your GP. You can find the Guidelines here.
Ataxia UK issued FA Guidelines in 1997 and updated them in 2004 but they are being reviewed at present and will be updated again during 2010. You can read the Guidelines here.
Keeping Kids Healthy
The Keeping Kids Healthy award winning show is a weekly paediatric health television series produced and screened in the United States. The show looks at parenting, disease prevention and keeping children healthy. Click here to see the Emmy-winning Friedreich’s Ataxia show. Although it first aired in 2008 it is an informative show that gives an insight into the world of FA and helps to raise awareness.
‘This Way in Friedreich’s Ataxia’
Read this article published in the January 2010 issue of Neurology Now, a publication by the American Academy of Neurologists. It focuses on an approach to the treatment of Friedreich’s Ataxia (FA) which is being supported by the Friedreich’s Ataxia Research Alliance (FARA). Although this article does not include a comprehensive review of all potential treatments for FA, it does recognise the promising research being done by Dr Joel Gottesfeld in the area of HDAC inhibitors.
Friedreich’s Ataxia: A review
A review of Friedreich’s Ataxia by Dr Christine Albertyn was written in the Irish Medical Times on October 2nd 2009. Click here to read her article. As well as defining the condition and diagnosis, Dr Albertyn discusses future therapeutic options and looks at some of the trials that are in the pipeline.
Read an article written by Mary-Lisa Orth following the death of her son Benj after scolosis surgery. The Guidelines for FA patients reflect the experience of a mother and offer basic information that needs to be discussed with the medical team before surgery. Of particular inportance is the issue of fluid management and heart function. The article is not intended to be a comprehensive guide to surgery. We are grateful to Mary-Lisa for her courage and willingness to share what she learned through the pain and sadness of losing her son Benj.
As FA is relatively uncommon in Ireland, most educators are unaware of the condition and the impact that it has on the person. With a range of different and varying symptoms and a rate of deterioration and incapacitation that affects people differently, it is difficult to create a guide that suits all. That said the following information should be of use when explaining the condition to school authorities and drawing up an Individual Education Plan (IEP). The guidelines were drawn up by Sam’s mum and in conjunction with the Special Education Support Service (SESS) they have been made available to all primary and secondary schools in Ireland. Download the educational guidelines here.
In 2009 Ataxia UK issued a Physiotherapy Supplement specific to the management of ataxias. It aims to provide guidance to physiotherapists who work with people who have ataxias. The authors who have examined the published literature in developing the guidelines noted that little research has been carried out in relation to people with FA. However we have included the Supplement here and, coupled with the Clinical Guidelines for the Management of Ataxias issued by Ataxia UK FA patients and their physiotherapists can work out a programme best suited to their specific requirements.
A recent study entitled Intensive Coordinative Training Improves Motor Function in Degenerative Cerebellar Disease by Ilg et al found that intensive training should become a standard of care. You can read the article here.
For details about the physiotherapeutic exercises used during this study click here.
How to set up a Trust?
When we embarked on setting up the Public Suscription Trust for Sam, it was a minefield. We took legal advice and found that we would need two or three trustees who would look after the monies for the benefit of Sam, ensuring that the funds will be properly invested, administered and protected. The trustees cannot be ‘connected’ to the beneficiary. This kind of trust has tax benefits. It is established by a deed and must be submitted to the Inspector of Taxes for prior approval. Section 12 of the Finance Act 1999 sets out the conditions for Public Subscription Trusts.
Disability Information: Income Tax, Allowance, & Exemptions
Check out the Revenue site here for details about special allowances and exemptions that are available for persons who are permanently incapacitated such that they cannot maintain themselves. Parents, guardians or caregivers may also qualify.
Scoliosis is an abnormal curve of the spine. Many people with Friedreich’s Ataxia develop this condition.Read Dr Mary Kearney’s article the Choice of treatment for FA scoliosis. It is essential reading for any parent who has concerns about the condition, its diagnosis and treatment. Mary is a tireless worker, fundraiser and supporter of research for sufferers of Friedreich’s Ataxia.