Although Canada has yet to catch up to the US and EU in creating an infrastructure for rare disorder funding and research, there are interesting research programs in place and advances are being made towards newborn screening.  An additional difficulty for the treatment of rare disorders in Canada is that each province has its own legislation and regulations.  This mostly affects access to orphan drugs.  Luckily diazoxide and octreotide are available throughout Canada.  Introducing a new drug for the treatment of HI would be a long battle.

Raising awareness amongst the medical professionals in order to increase timely diagnosis of HI is needed in Canada as much as it is elsewhere.  With the emergence of newborn screening for rare disorders we are motivated to work with the medical experts to put together a protocol for HI new born screening.  The fact that CHI has few contacts with HI families from Canada also raises the necessity to increase our visibility in the different provinces to make sure we can offer support to all those whose child is being diagnosed with HI.  CHI is working hard to tackle these challenges and counts on the support of its members for continuing progress.

Here is an exerpt:

Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. Approximately 5% of individuals have activating mutations in GLUD1. Rarely, affected individuals have activating mutations in GCK or inactivating mutations inHADHSC. About 40% of individuals with FHI do not have an identifiable mutation in any of the genes known to be associated with FHI. In the Ashkenazi Jewish population, two ABCC8 founder mutationsare responsible for about 90% of FHI. Another ABCC8 founder mutation, V187D, is present in the Finnish population. Mutation analysis for these two mutations and mutation scanning and sequence analysis of ABCC8, KCNJ11, GLUD1, and GCK are available on a clinical basis.

Find the full article here.

In evaluating the potential for this test to prevent damage caused by untimely diagnosis of HI, it is important to remember that a number of different genetic mutations are known to cause HI, and in many people, the genetic basis for HI is still not know.   The efficacy of the Counsyl test has yet to be reviewed by outside experts.   Still if the results turn out to be accurate and this test or others like it are widely used some time in the future, it could represent a great step forward for timely diagnosis and treatment of HI and other rare disorders.

Click here for the NY Times article.

Julie Raskin
V.P. Congenital Hyperinsulinism International
jraskin@congenitalhi.org

http://www.endocrine-abstracts.org/ea/0016/ea0016pl5.htm