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Rare Disease In Child Neurology: How do We Overcome The Barriers To Diagnosis and Care?

Administrator: Sunita Venkateswaran

Importance of early diagnosis in neurological rare disease
Vrajesh Udani

A rare disease is a condition affecting less than 1 in 2000 individuals and to date there are more than 7000 known rare diseases. Neurological conditions comprise more than 50% of rare disease diagnoses, the majority of these conditions affecting children. 

Over the last decade, we have seen the successes of early diagnosis, leading to live saving treatments (eg. spinal muscular atrophy), preventing lifelong neurodegeneration (eg.pyridoxine dependent epilepsy), or a change in disease course (eg.dopa responsive dystonia) among others. 

This introductory talk will highlight the diagnostic odysseys experienced by families with a rare neurological disease through case based presentations. We will highlight the successes and treatment possibilities  brought forth by early genetic diagnoses. There will also be discussion on the availability and types of prenatal genetic testing, as well as the criteria required for a condition to be included as part of a newborn screening program and the feasibility of newborn screening in many regions of the world.

 

Means of genetic diagnosis - pearls and pitfalls
Anaita Udwadia-Hedge

Over the last decade, there have been numerous advances in genetic diagnostic methods helping end the diagnostic odyssey for many children and families. However, each diagnostic method has its own advantages and disadvantages. For example, a condition due to a triplet repeat will not be diagnosed by whole exome sequencing.
Through a case-based approach, this talk will review the various genetic diagnostic methods, ranging from microarray to whole genome sequencing, and examples of when each of these tests are appropriate. The importance of gathering a clear family pedigree and access to family member testing will be emphasized.

The speaker will also present databases that are the basis of interpretation, a discussion on the various interpretation methods that are used, and the importance of re-testing or re-analysis over time (eg. for a variant of unknown significance) even in adulthood.

Finally, this talk will conclude with importance of diverse genetic databases and the international collaborations needed to enable this to become a reality.

 

Barriers to diagnosis and care in low income and under-represented populations
Montaha Almudhry

Accessing genetic testing, interpretation of testing and access to treatments is not straightforward in most countries. Several layers of barriers exist including the social stigma associated with a genetic diagnosis leading to hesitancy to undergo testing and lack of exposure of a child to much needed medical and social services.
Resources are a second major issue. Genetic information is not available in many languages, language barriers can lead to lack of communication amongst families in support groups. Furthermore, access to genetic clinics are not readily available which may hinder both testing and interpretation of testing, especially important in populations under-represented in the genetic databases. 
Even with a diagnosis, many families cannot access specialists and investigations required to manage their diagnosis.

Finally, if available, treatments and clinical trials may not be accessible even if a diagnosis is made. 
This section will discuss these important issues that affect the majority of the world's population.
 

Rare disease care models - what can we learn from them?
Sunita Venkateswaran

Even in high-income countries where diagnosis and treatment may be available, there are still barriers to optimal care. The patient and family undergo a difficult journey from time of symptom onset, to diagnosis, to disease management. Families are alone during much of this journey, starting with the time it takes to get to a diagnosis, with the lack of information on the condition once a diagnosis is made, the frustration when they encounter medical personnel of having to explain their child's condition, and the lack of access to the multidisciplinary care or treatment their child requires. Physicians and allied health care providers are also alone requiring international collaborations in many instances to gain knowledge on the condition and provide the best care.

Many countries and continents have developed care models to help expedite the time to diagnosis and foster collaboration moving towards research, treatments and cures.

This talk will discuss some of these care models and the importance working closely with stakeholders to provide optimal care and support for patients and their families affected by rare diseases.