Day 2 and 3 of the NAF conference

Apologies for the delay in publishing this post on the rest of the NAF conference; Richard's daughter, Andrea, is guest-blogging this post after catching up with some school work.

The rest of the presentations were particularly informative with Saturday's researchers discussing how to treat the symptoms of ataxia (through medication, diet, speech therapy, etc.) and Sunday's presenters describing the latest progression in mapping the neuropathologies of certain ataxia variants and developing sophisticated new genetic treatments. Saturday's focus for participants was on dealing with the nuts and bolts, educating people with ataxia and their caregivers to manage the effects of the disease. We also learned about a couple of clinical trials, such as an upcoming Chantix trial (yes, the anti-smoking drug) that will soon commence.

Medication management is a particular concern given that improper dosages can cause adverse side effects for people with sensitive nervous systems as is the case for ataxics; when in doubt, start off with the lowest dosage possible and work your way up. Certain symptoms such as fatigue may be drug side effects, rather than a result of the disease itself; if you notice a change in functioning or how you're feeling, take note of any changes in your medications and let your doctor know. Over the counter medications, "natural remedies" and supplements should be reported to your primary care physician and neurologist, too, as these do have biochemical effects that may interact with other drugs that you're taking. Supplements such as antioxidants CoQ10 and Idebenone have been heavily marketed for those with a variety of neurodegenerative diseases, but their efficacy is somewhat questionable at the present, especially given that they are quite expensive.

The highlight of the final day was Dr. Ryan Boudreau's presentation on RNAi for SCA-1, though numerous others such as Dr. Henry Paulson are currently working on RNAi therapies for other ataxia variants. Dr. Boudreau and his collaborators have been testing the delivery of inhibitory RNA that "turns off" the SCA-1 gene producing the toxic protein hastening the neuronal death in the cerebellum. Current issues involve ensuring the safe delivery of the RNAi via a non-pathogenic virus; "more is not necessarily better," as Dr. Bourdreau pointed out, as silencing genes with these engineered RNAi may inhibit other genes not meant to be interfered with. They are also investigating the site of delivery to see if the therapeutic effects can be enhanced by affecting a greater portion of the cerebellum. It will be interesting to see what the long term effects of RNAi therapy are, if the improvement in behavioral functioning as well as in halting the progression of the disease can be upheld.

The quantity of medical information, with one presentation after another, was quite a bit to process although the researchers took great care to make sure that they were clearly communicating the more technical aspects of their presentations. The intellectual sophistication of the conference proceedings gave this college student a mental workout during her spring break, a testament to the researchers' generosity in sharing their findings and willingness to outreach to the ataxia community. I can only imagine how intimidating the volume of neurogenetic and biochemical terminology felt for other laypeople like myself who haven't taken college biology (or don't remember the subject). If I weren't English language proficient and the beneficiary of a good education, I don't think I would've been able to understand even a third of what was presented.

Having these conferences and keeping the ataxia community aware of the latest progress are unquestionably necessary, but we must also consider who within the community is able to absorb the nuances of disease etiology and symptom management, pursue the most effective treatment strategies, and have the means to do so.

With the current economic climate, we suspect that fewer people were able to attend this year's conference. Those weren't able to attend this year, as well as previous years', probably have more limited resources, which may affect their ability to continue managing their ataxia and seek medical help. We wonder about how these breakthroughs in biomedical research can be best disseminated to those affected by ataxia but who are unaware of its progression or even the many avenues for treating symptoms in the meantime.

Ataxia is an equal opportunity disease that affects people of all racial/ethnic and class backgrounds; unfortunately, not everyone is able to receive good care and sufficient support in handling everyday life with this disease. Addressing barriers to accessing medical information, treatment options, and health care in general must become a priority if we are going to help everyone who is affected by this disease. Raising ataxia's profile in the public and medical arena, including through the annual NAF conference, is a crucial first step. We are grateful for the support and advice we have received from fellow participants during the conference, swapping stories person to person about our experiences with the disease, learning from each other about remedies we didn't know about, and finding new sources of hope and inspiration.

We can only hope that this blog can serve at least some small role in disseminating information about ataxia to those in need of it.