Tag Archives: MPS Society

#InHonorofSara

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Beautiful Sara when she was little.

      Beautiful Sara when she was little.

#InHonorofSara a pay-it-forward campaign.  Heaven received a new Sanfilippo angel three weeks ago this weekend. Sara was 24 years old and passed away in her home, with her loving family.  For the last few years Sara’s amazing mom Kathy has been making weighted blankets, many of which she donates to families who are unable to afford one.  Weighted blankets are a wonderful, natural therapy that has been shown to help with everything from anxiety to chronic pain and all ages from children to seniors.

This pay-it-forward campaigns goal is to raise money to help Kathy make and donate more blankets to families in honor of Sara’s memory.  All sizes of donations are welcomed and appreciated.  Donations can be sent directly via paypal to aeileendover@aol.com (please click friends and family to avoid fees and put #InHonorofSara in the comments section so that Kathy can feel the love).

Please #share #donate #PiF #spreadtheword and help honor Sara’s memory.

Below are some links that may be helpful:

Beautiful Sara’s Obituaryhttp://www.doughertyfuneralduluth.com/home/index.cfm?action=public:obituaries.view&id=3120805&fh_id=14166

To learn more about Sanfilippo Syndromehttps://roxannesrandoms.wordpress.com/2011/06/09/sanfilippo-syndrome/

To learn more about Weighted Blanketshttps://roxannesrandoms.wordpress.com/2013/01/22/weighted-blankets-and-a-long-distance-thank-you/

Kathy’s Weighted Blankets Facebook pagehttps://www.facebook.com/WeightedBlanketsLapPadsVests/timeline

TO DONATE VIA KATHY’S GOFUNDME CAMPAIGNhttp://www.gofundme.com/35ugh8

TO DONATE VIA PAYPAL:  aeileendover@aol.com (Please make sure to click send money to friends and family to avoid fees. In the comments section please put #InHonorofSara and I am sure Kathy would love any notes of support).

Sanfilippo Syndrome

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***Please note:  I am not a doctor.  I am not a scientist.  I am just someone who has had the privilege of working with a wonderful young lady with Sanfilippo syndrome and wanted to share some information.  There is much more information about Sanfilippo Syndrome out there, I just shared a few facts, so take the time to research more and educate yourself and others.***

Majority of people go through life and never even here the term “Sanfilippo syndrome” and if they do they rarely ask what it is. 

We all  know about cancer, Down syndrome, depression, erectile dysfunction, cerebral palsy, irritable bowel, etc from school, television (commercials and shows), and maybe even from some real life contact, yet we have never seen a commercial about Sanfilippo syndrome.  There are countless diseases out there and it is impossible to be educated on every one of them, but I want to take this opportunity to share some information about Sanfilippo syndrome…a little bit of knowledge goes a long way.

Sanfilippo syndrome is also known as MPS III and is a mucopolysaccharide disease (also refered to as glycosaminoglycans).   What is mucopolysaccharide?  Mucopolysaccharides are the  long chains of sugar molecules our bodies use to help  build connective tissues in the body.  Now lets take the time and just break that huge word down: 

muco:  refers to the thick almost jellyish consistancy of the molecules.

poly:  many

saccharide:  a sugar molecule…sound familiar, think saccharin which was discovered in 1879 and is an artificial       sweetener that can be found in candy, drinks and even our toothpaste.

Children who have MPS III/Sanfilippo syndrome are missing the enzyme heparan sulfate, which is vital in breaking down the used sugars or mucopolysaccharides. The mucopolysaccharides that are left and not broken down remain stored in the bodies cells causing progressive damage. 

Okay, now we technically know what mucopolysaccharide is lets learn about its history and how it affects the individuals who have it.

History in brief:  Dr. Sylvester Sanfilippo (retired)  is a pediatrician from Edina, MN.  In the early 1960’s Dr. Sanfilippo and his colleagues began a comprehensive study of children with mucopolysaccharide storage disease and in 1963 he presented the results of their study at the annual meeting of the American Pediatric Society, publishing the report of their findings  later that same year.  Essentially Dr. Sylvester Sanfilippo was one of the first doctors in the United States to research and describe the disease.

Statistics:  1 in 70,000 babies are born with MPS III…rough comparision 1 in 691 babies are born with Down syndrome

                          There are 4 different types of MPS III: A, B, C and D (aka four different enzyme deficiencies).

                          Symptoms usually do not appear until after the first year of life.  Many children are diagnosed between       the ages of  2 and 6 years old.      

                          Children with Sanfilippo syndrome will be below average in height, have full lips, heavy eyebrows, stiff joints, difficulty sleeping, problems walking and behavioral issues to name a few traits.

                           THERE IS NO CURE at this point in time.  The FDA has approved Enzyme replacement therapy, but in studies it has not shown to be effective in MPS III.  Research is ongoing and getting the word out to help with funding is vital.

                          Life expectancy of individuals with San Filippo syndrome is currently between 14-20 years of age.

                          Children with Sanfilippo syndrome (most) will be very active and have some difficult behaviors.  As they age they will slow down and start to become unsteady on their feet, often falling and eventually digressing to the point of immobility and having to use a wheelchair.

                          MPS III is an inherited disease caused by a recessive gene also called autosomal  recessive trait which means that both parents passed on the recessive gene causing the disease.

                           As the disease progresses children will lose their ability to walk, eat and speak.

                           Sanfilippo syndrome is fatal.

Some sites with more information & people who can help answer questions and who are living with children with Sanfilippo syndrome:

http://www.mpssociety.org/

http://www.mpssociety.org.au/

http://www.oliviaswish.com/html/mps-sanfilippo.htm

http://www.myfoxny.com/dpp/health/new-york-children-cope-with-rare-deadly-disorder-20101011

http://www.facebook.com/pages/Emilys-Dance-our-babys-life-with-San-Filippo-Syndrome/119166221467136?sk=info

http://www.facebook.com/pages/Emilys-Dance-our-babys-life-with-San-Filippo-Syndrome/119166221467136?sk=info#!/PrayingforLucas?sk=info

Please take the time to learn more about MPS III/Sanfilippo Syndrome and spread your knowledge by helping educate others.  MPS III is fatal and there is no cure at this point in time, but with ongoing research there will hopefully be a treatment or a cure in the near future.  Funding for research is necessary and there are many different ways of helping, you can donate directly to the MPS Society, check in your local community to see if they have any MPS walk/runs or other fundraisers happening or even organize a fundraiser of your own. 

Take the time to spread the word, share the knowledge and help find a cure.

Kathy Anderson---proud vocal parent with a daughter who has MPS III.