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Area of Expertise

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time. There are approximately 7,000 rare diseases. Altogether, rare diseases affect an estimated 30 million Americans. 

Photo by: Mark Carroll 

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Lysosomal storage disorders

  • Alpha-Mannosidosis

  • Aspartylglucosaminuria

  • Barber disease

  • Batten disease (Neuronal Ceroid Lipofuscinoses)

  • Beta-Mannosidosis

  • Cholesteryl Ester storage disease

  • Cystinosis

  • Danon disease

  • ​Fabry disease

  • Fucosidosis

  • Galactosialidosis
  • Gaucher disease

  • Gangliosidosis

  • Krabbe disease

  • Metachromatic leukodystrophy

  • Mucopolysaccharidoses disorders

  • MPS I – Hurler syndrome

  • MPS II – Hunter syndrome

  • MPS III – Sanfilippo (A, B, C, D)

  • MPS IV – Morquio syndrome (A & B)

  • MPS VI – Maroteaux-Lamy syndrome

  • MPS VII – Sly syndromeMucolipidosis Type I (Sialidosis)

  • Mucolipidosis Type II (I-Cell disease)

  • Mucolipidosis Type III (Pseudo-Hurler polydystrophy)

  • Mucolipidosis Type IV

  • Multiple Sulfatase Deficiency

  • Niemann-Pick Types A & B

  • Pompe disease (Glycogen Storage disease)

  • Sandhoff disease

  • Schindler disease

  • Tay-Sachs disease

  • Wolman disease

A Drop of Hope ™

“When all you need is a drop of hope;

 and many times, a drop is all you have.” 

For without hope there is nothing. 

Kendra J. Bjoraker, Ph.D., L.P.  2007

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Expertise Rare Genetic Conditions

  • Lysosomal storage disorders

  • Peroxisomal disorders

  • Inborn Errors of Metabolism

  • Neurodevelopmental disorders

  • Neuromuscular disorders

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Consultation Services

  • Consultation

  • Advocacy

  • Research

  • Education

  • Speaking

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Publications

Kendra J. Bjoraker is known nationally and internationally for her clinical and research work in neurocognitive and neurobehavioral outcomes in children with various neurological conditions.

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