Speedy Sticks is a proud sponsor of the Zebra Run and is committed to helping the researchers and families touched by the illness to detect, treat, and one day cure this rare fatal illness. The Zebra Run for Rare Diseases is an annual charity and awareness event sponsored by the United MSD Foundation since 2018. MSD or Multiple Sulfatase Deficiency is a genetic disease resulting in dysfunction and premature death at a young age. It is a rare neurodegenerative disease for which there is no cure, find out what MSD is and how you can help below.
We compiled this information about Zebra Run 2022, including its organization, history, and MSD itself, to raise awareness for this fatal illness.
What is MSD?
Multiple Sulfatase Deficiency is a neurodegenerative disease that can be present at birth but more often produces no symptoms until a child is months or even years old. A child with MSD will show signs of the disease differently depending on the variant of MSD they have.
The three types of MSD are:
- Late-infantile – The most common variant of MSD happens in children who begin life normally but physically and mentally begin to regress at an early age. Doctors refer to this regression as “developmental delay” and it is observed by a loss of skills and cognitive functioning.
- Neonatal – This severe form of MSD appears at birth and may develop even before then. Children afflicted by neonatal MSD decline quickly and rarely reach the age of three.
- Juvenile – The rarest form of MSD becomes symptomatic in later childhood, as evidenced by a gradual decline in skills and cognitive function.
The cause of MSD is the inheritance of a mutated gene called SUMF1 from both parents. This causes a protein known as FGE (formylglycine-generating enzyme) to be absent or dysfunctional. This, in turn, causes sulfatases to ignore their basic function of breaking down waste in the person’s cells, which then builds up and over time causing problems. Since the buildup is gradual, related to waste being stored rather than removed from the patient’s cells, MSD’s symptom progression is gradual too.
How is MSD Diagnosed?
Since MSD often does not appear at birth, the progression of the symptoms is unique to each child, depending on the variant they have. Parents are most likely to spot the early signs of MSD due to their familiarity with their child’s behavior. Some warning signs of MSD include:
- Loss of speech, motor skills, or other functions
- Issues with balance or swallowing
- Seizures
- Dry skin
- High muscle tone
- Recurring sleep difficulties
- Sinus infections
- Abnormally long eyelashes
These symptoms, in conjunction with children failing to meet developmental milestones, could justify further testing for MSD. Doctors can test for the disease in two ways: biochemical and molecular.
- Biochemical tests can be conducted on urine or blood samples. The sample’s levels of certain proteins and metabolites, such as the previously mentioned sulfatase, can be used to make a diagnosis. MSD patients will present with low levels of this compound as well as high levels of cellular waste, which can be measured by testing for glycosaminoglycans.
- Molecular tests will be conducted from the child’s DNA, such as in a sample of saliva or blood. In this test, doctors will look for the SUMF1 gene directly. Two non-functioning copies of this gene indicate MSD.
Why Speedy Sticks Cares About the Zebra Run
The founders of Speedy Sticks, Dr. Jeremy Jacob, Daniel Buitrago, and Brandon Wall believe in helping everyone from all aspects of healthcare, especially rare diseases. They aspire to give back to the community (Specifically for the MSD Foundation) and are another helper for this organization to make changes in the world for such a rare disease.
“This foundation aligns with our core values for change in the world, upholding a great level of integrity and leading by example through awareness for an amazing cause.”
How the Zebra Run Will Help
The 5th Annual Zebra Run for Rare Disease had 500 runners in 2021 devoted to spreading one message: #CureMSD. 54 sponsors around the world raised $60,000 for the treatment of this disease. The 2022 run in Ocean Springs, MS, hopes to do even more for the cause joined this year by other runs around the world, including in Texas, California, Canada, the UK, India, Brazil, Spain, and more.
SWAG boxes will go out as early as April from Ocean Springs to families affected by MSD and the conference presenters. Speedy Sticks is a proud sponsor of the Zebra Run and will do our part to help families affected by this rare illness.
For individuals with symptoms consistent with a diagnosis of MSD, Invitae provides free genetic testing. Additionally, if you are interested in meeting with someone who can organize genetic testing and provide valuable resources related to your diagnosis and care, reach out to a local genetic counselor in your area. For help approaching your pediatrician, you can see this physician handout on MSD to give to them the next time your child has an appointment.
About Us
Speedy Sticks is a mobile concierge phlebotomy service that provides at-home blood draws and on-site diagnostic/health screenings for businesses and individuals. Book an appointment today.
*This content is for informational purposes only and is not meant to replace consulting with a healthcare professional. Please consult with your primary care physician or healthcare provider before engaging in any services offered by Speedy Sticks.
