Here is What You Can Do About Sanfilippo Syndrome
Sanfilippo
Syndrome - Information and Resources
Sanfilippo Syndrome might not mean much to most people. It
means a lot, though, to those children and parents who are affected by this
rare illness. The children's names might be Ben, Missy, Reed, Jonah, or maybe a
name few can pronounce.
Sanfilippo syndrome is a rare
metabolic disorder that is passed along in families. It is caused by an enzyme
deficiency. More information is below, but the essence of all this is the child
withers away. At the time of writing this article, however, there are some new
and promising treatment options.
This article is meant to give hope
by summarizing some of the resources available for Sanfilippo Syndrome.
Once diagnosed with this Syndrome, here are some steps family-members can take
to become informed, find others who have the same illness, alleviate
discomfort, and maybe improve healing potential.
- Of course, work with the health care professionals you have available. In addition, keep an open mind to Alternative and/or Complementary Therapies.
- Connect with others who have experience with this Syndrome. Some Support Groups are listed below.
- Set up an Internet Alert Service, e.g. .Google Alerts, to notify you of recent advancements. A Good Internet Search String is below.
- Do your own research, in hopes of finding something new or overlooked. Share your findings with others, so that you all can build on each other's research. Libraries can help you find information, people, organizations, etc. Connect with the closest Medical Library. Find a library that you like working with, since there might be more than one in your locality. Connect with one, even if you aren't from that country or area, since most are very willing to help all. Whatever question you have they can help. Don't hesitate to ask, no matter what.
- Do not give up hope. There is always something new "just around the corner". You might not have answers now, but you are doing all you can. Hang in there. It means a lot to a child just knowing they are loved and accepted, just as they are.
Takeaways:
- Sanfilippo Syndrome is a difficult condition, both for the child and the parents or caregivers.
- There might not be many answers now, but a new treatment might be coming soon, that your doctor might not even know about.
- There are action steps you can take to help your child and yourself, make the best of the situation.
For more information:
General Information
- Sanfilippo Syndrome
Good Internet Search String
- ("Sanfilippo syndrome" OR "Mucopolysaccharidosis III" OR
"MPS-III")
Find a Medical Library near you in the U.S., Canada, and
some other countries. Also List of Library Associations around
the world.
Support Groups:
RareConnect - Sanfilippo Syndrome - Also,
see links to other helpful resources.
New Patents/Applications:
WO/2013/070760 - BIOMARKERS FOR SANFILIPPO
SYNDROME AND USES THEREOF
Patent Watch 2/1/14 (WIPO) also Google Patent Search 2/1/14
Disclaimer - Article is for
information only, and is not medical advice.
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