We are asking for your support to help us make this year’s Zebra Run a successful event. This event is a great way to run, join with friends, enjoy getting outside while also helping FUND THE CURE for the first-ever MSD Phase One Clinical Trial.
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. Diagnosis of the disease is very difficult, as 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.
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. Diagnosis of the disease is very difficult, as 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
EARLY SIGNS OF MSD
Early symptoms of MSD include developmental delay, progressive loss of neurological function, motor and communication skills, increased muscle tone (known as spasticity), and epilepsy. Additional symptoms such as enlarged liver and spleen (hepatosplenomegaly), progressive skeletal dysplasia (dysostosis multiplex), buildup of fluid in the brain (hydrocephalus) and intestinal hernias occur in children with MSD. Balance issues can appear early in the disease process. This may be caused by a combination of the buildup of cellular waste in the brain, nervous system, and bones. Children usually stop walking and crawling as the disease progresses. Clinically, facial features of MSD children are described as “coarse.” The eyebrows and eyelashes are long and full. Onset and progress of symptoms in MSD allow for the differentiation of a neonatal very severe form of the disease, a late infantile severe and a milder, juvenile form of MSD.
LOOKING FORWARD
Currently, there is no treatment or cure for MSD. Various mutations of the SUMF1 gene are known to be the cause of MSD, and the knowledge of these specific gene mutations allows researchers and doctors to move forward to find a treatment and cure for MSD. Gene therapy of the SUMF1 gene could help slow the progression of the disease, and possibly deliver a cure for children diagnosed with MSD. The United MSD Foundation is currently working with partner organizations, researchers, and doctors from all over the world to fund the first-ever clinical trial, which will help the foundation’s mission to cure MSD. Additional initiatives include the development of a patient registry and advocating for newborn screening across the United States.
The effects of MSD are devastating, on both the children with the disease, and their families who love and care for them. The United MSD Foundation envisions a world where an MSD diagnosis is no longer a death sentence, and that children with this disease have a chance to live healthy and productive lives.
