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Multiple Sulfatase Deficiency (MSD) is a rare, fatal, lysosomal storage disease that affects the entire body. With MSD, the body does not break down and filter out the natural cellular waste that occurs in everyday cell functions. Children are typically without any symptoms at birth, but depending on their genetic mutation, signs of MSD can begin either soon after children are born or later on in the child’s life. In Ethan’s case, we did not get a diagnosis until just about his third birthday as diagnosis of the disease is very difficult.  

Currently, there are less than 100 known cases of MSD throughout the world, and there are approximately 20 known cases in the United States. Children are often initially diagnosed with developmental delay and frequent ear infections before receiving a diagnosis of MSD.


Children with MSD rarely survive past their 10th birthday, as their entire body shuts down due to a buildup of waste and loss of critical function.



MSD is caused by either the absence of or errors within the SUMF1 gene. Over time, cellular waste builds up and is deposited throughout the body in multiple systems. Accumulation of waste products in the brain leads to developmental delay and loss of motor and communication skills. Some children with MSD may talk initially, but will eventually lose their verbal skills. Some children with MSD will never develop speech. Other critical body systems are also affected, causing many of the following to occur:

  • Blindness

  • Difficulty swallowing and breathing

  • Frequent congestion and other upper respiratory infections

  • Pneumonia, which is typically the cause of death, as the body’s weakened immune system can no longer fight off infection

  • Many children will require a feeding tube be placed directly into their stomach or intestines

  • Curvature and/or Deformation of the spine as the body grows

  • Joint stiffness

  • Heart conditions and circulatory problems

  • Dry skin on stomach, scalp and back

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In order to fund our research strategy outlined below, we will need to raise a significant amount of money to accomplish our goals.  As a rare condition, Multiple Sulfatase Deficiency (MSD) has historically struggled to attract research funding from larger funding bodies. Our foundation aims to ensure that this devastating condition receives the research attention it requires and deserves as we all come together to provide support and much needed capital. 


  • Aims to maximize the impact of the funds invested, as we identify the research areas that promise to make the greatest scientific advances and have the most relevance for our families.

  • Defines three focus areas: halt disease progression, repair damage and improve quality of life. We believe that investment in these areas are essential to bring desperately needed treatments to children with MSD.

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Our Research Strategy will focus on 2 priority areas and our Research Funding Program will consider projects that address the following areas:

Halt Disease Progression  

  • Gene therapy, enzyme replacement, cell therapy & other emerging therapies to stop progression of Multiple Sulfatase Deficiency.

  • Strategies to enhance the effectiveness of emerging therapies

  • Halt disease progression early to optimize brain development

Repair Damage  

  • Repair and reverse cell damage

  • Broad application of regenerative treatments, for example repurposing approved drugs

  • Opportunity to collaborate with researchers working on other neuro-degenerative diseases

*Note: future funding focus areas may include: prevention (including pre-conception), diagnosis and prognosis.

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