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FEBRUARY/ MARCH MONTHLY TOPIC NOW LIVE

Author Note: I am in no way a professional of any kind. I am strongly against self-diagnosis, and encourage my audience to please seek the professional advice of their own trusted medical professional and any other trusted professional depending on the topic at hand. The Abler Blog ONLY PROVIDES LIMITED GENERAL INFORMATION, and ALWAYS CITES WHERE THEY FIND THEIR RESOURCES AND OR INFORMATION. Jessica Niziolek, Founder Of The Abler Blog, and online community. Resources Used: webmd.com What is Sanfilippo Syndrome? This condition is also known as mucopolysaccharidosis type III. This condition is rare and life-threatening. This condition interferes with the metabolism. While there is no cure for this disorder, there are some symptoms of this condition that can be treated. This helps in alleviating this condition. Sanfilippo Syndrome is a genetic disorder that effects a child’s metabolism. In simpler terms, the child is laking a certain enzyme that’s job is to breakdown a type of waste that the child’s body produces. What are enzymes? They are proteins that help break down (metabolize) various substances like sugar. This happens within the cells of the body found in sacs known as: lysosomes.These lysosomes are affected in Sanfilippo syndrome — that's why this disorder is regarded as a lysosomal storage disease. Basically, this condition makes the body not able to metabolize a molecule called heparan sulfate — a natural cellular waste, which is usually disposed of and recycled through enzyme action. As a result, heparan sulfate starts to build up in the cells and stops them from functioning correctly. This eventually leads to organ damage, mental and growth disorders, and behavioral problems. How Many Children Become Diagnosed? Sanfilippo syndrome is seen in 1 in 70,000 births in the U.S., and children with it have a life expectancy of 10 to 20 years. While it’s considered a rare disease, having a family history of it increases the risk  How Do You Diagnose SS? Because this condition is rare, it can be misdiagnosed as another condition such as ADHD, or autism. It easier for the doctor to make a diagnosis of SS during the second stage of SS when the child is between of the age of 1 to 6 years old. From there the doctor will order an urine test to check the child’s  heptane sulfate levels are too high. If yes, then the doctor will order blood work to check the enzyme(s). If one is missing then genetic testing maybe be requested. Are There Different Types Of SS? The short answer: Yes, there are. How Many Types Are There? There are four types of SS. **Please Note:** That while each type may slightly vary in symptoms. This syndrome is still life threatening. Even with a slight difference concerning life expectancy. Sanfilippo syndrome Type A. This type is the most common and also the most severe. Children with this type will usually lose their motor skills early, and they'll display other advanced Sanfilippo syndrome symptoms at a premature age. Sanfilippo syndrome Type B. This type is less common and usually progresses more slowly than type A. Sanfilippo syndrome Types C and D. These are two of the least common kinds of Sanfilippo syndrome — with Type D being the rarest of all four types. Though their progression rates can vary, they’re generally slower to progress than Types A and B.  The Most Common Symptoms Of SS SS usually doesn’t get diagnosed or even noticed right away. Sometimes it could take a few months, even years before you have answers. Even if the child does show some signs, doctors can confuse them for the child having another condition other than SS. Most symptoms of SS start between the ages of 1-6 years of age. Some symptoms of SS include, development delays, trouble sleeping, and frequent infections. Common Symptoms Of The First Stage Of SS Are Behavioral issues Speech and development delays Persistent diarrhea Frequent infections, especially in the ear and throat Trouble sleeping It is also important to note that as SS progresses, the symptoms will worsen. For example at this particular stage of SS, the child needs to use a feeding tube. The child’s behavior and sleep patterns will also be more pronounced at this stage as well. Common Symptoms Of The Second Stage Of SS Are Extreme restlessness Gradual loss of language Hyperactivity Hearing loss Seizures Progressive intellectual disability With the final stage of SS, The child will lose motor skills, the ability to walk, eat, and speak on their own. At this stage the child may also show the following symptoms as well. Common Symptoms Of The Final Stage Are Movement disorders Contractures of hands and fingers Frequent falling Arthritis Visual impairment
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