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Developmental Psychology and my personal experience of Sanfilippo Syndrome

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´╗┐Theresa Hinkelman Developmental Psychology of Sanfilippo Syndrome DEP2004 Dr. Hoffman Sanfilippo Syndrome I have chosen to do my report on Mucopolysaccharidoses (MPS) Disorder category Sanfilippo Syndrome Type A also known as MPSIIIA. I will explain what MPS and Sanfilippo Syndrome both are, what causes the disorder, and how it progresses. I will also provide a list of features and characteristics, and what can be done about it. In conclusion I will relate the concepts, theories, and issues of developmental psychology and focus primarily on cognitive and psychosocial development from birth through adolescence of the child with Sanfilippo Syndrome. Sanfilippo Syndrome was first identified by Dr. Sylvester Sanfilippo in 1963. It is a rare syndrome with an occurrence rate of 1 out of every 25,000 live births. Both parents have to be carriers of the defective gene and both parents must pass that gene on to the child in order for that child to become affected. If both parents have the defective gene then there is a 1 in 4 chance of their child having Sanfilippo Syndrome. Those born to these parents, who are unaffected, also have a 2 in 3 chance of being a carrier. Mucopolysaccharides are the long chains of sugar molecules used in the building of connective tissues in the body. To break down this word and its meaning: ?Muco? is a thick jelly-like consistency of the molecules found in the human body, ?Poly? means many and, ?Saccharide? is a term for the sugar molecule. ...read more.


When the child reaches the third stage of the Sanfilippo Syndrome their bodies begin to slow down. They become unsteady on their feet causing them to fall frequently. In time, they lose their ability to walk all together. As this happens, their mental capacity also diminishes due to worsening seizure activity, as well as their loss of vision, and hearing, the child eventually becomes immobile and finally falls into a coma like state. Bone marrow transplants have been tried on MPS III patients, but with disappointing results. Various experimental methods have been used to try to replace the missing enzyme, but at present none have been shown to have any significant long-term benefit. At present, there is no known cure for Sanfilippo Syndrome. But currently there is hope for the future for these children thanks to the work of Dr. Fu at the Center For Gene Therapy, Columbus Childrens Research Institute, Dept. Of Pediatrics, Ohio State University. She feels that they have therapy that will provide meaningful benefits that have occurred in their clinical trial study of MPSIIIB in an animal model also that largely the same technique could be used for those with MPSIIIA. Most importantly, the time has come for transferring the AAV (adeno-associated virus vector) which is the vehicle carrying genes into the cells that contain the missing enzyme in the gene to be applied to human clinical application. In conclusion I have learned there is hope for all those with Mucopolysaccharidoses Disorder and now for Sanfilippo Syndrome types A and B. ...read more.


As a parent that raised a child with Sanfilippo syndrome type a I was 4 days postpartum form having my second child when I found out about my oldest son having this dreadful disease I was told I only had another 3-5 yrs. to spend with him before he was to die of course this sent me into a serious bout of depressive grief I went into shock an stayed that way for about 3 weeks my husband quit his job and took care of me the entire time and the two boys from that episode alone I have post-traumatic stress syndrome. Luckily my second and third child do not have the disease I cannot say they are not affected by it because they were raised in the same household with their oldest brother that had Sanfilippo syndrome it has altered our entire family life in a multitude of ways some negative some positive from a mothers perspective I feel as I did not have time to raise my second and third son I didn?t have time to be a proper mother I was to busy being a personal care attendant, case manager, advocate, and finally a nurse to my oldest son. It has been 5 years since we have lost the battle with Sanfilippo syndrome type a, we have learned that life goes on no matter how hard it is at times but we have learned so much about each other as a family that most families couldn?t even dream of. ...read more.

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