Above is a picture of Shane just about a week before he passed away. You can see he is so tired. But he is still our little Shane-Shane Mouse...
My life has been changed in many profound ways through my children. The changes they brought allowed me to participate in and observe many facets of the human existence - everything from joy, hope, and wonder at their sudden entrance to pain, desperation, and anger at their slow and suffering twilight. These extremes of the change spectrum created a prismatic effect on my life, which has made me who I am today - for better, and for worse, as exemplified by the choices I have made. Yet, for the better, I have experienced all the aspects of raising a child, attending to their special needs, and strenuously advocating for their survival, care, and basic rights. Below is listed some of the numerous resources available. To anyone that has ever had a child touch their life, I encourage them to read, learn and share. A child somewhere is depending on it.
My oldest child, Nathaniel, is affected by Autism. He is now seven years old (2008) and is a high-functioning, yet non-verbal child. Many people that meet him will tell you he is an articulate child, full of keen talents and skills we are only beginning to understand. Many of his behaviors are the result of aptitudes that do not contextually integrate with our (non-Autistic) relation to the world around us. But for Nathaniel, it all makes perfect sense. His father and I understand that, and we continue to believe that he will talk very soon.
My youngest son, Shane, was born in April 2002 and passed away in October 2006 from a rare genetic condition called Sandhoff’s Disease. It is caused by a recessive gene carried by both mother and father. Medically defined, it is a lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (particular lipids called GM2 gangliosides) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease–which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent–but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Shane suffered through all of these things, as if a text book case. However, he had excellent care while he was with us and a family who loved him very much. Prior to the start of his seizures and full blown onset of the disease, Shane was a very happy, sweet baby. He was always laughing, cooing, and looking to meet your gaze. As the disease began to manifest, he endured the symptoms with the same sweet demeanor.
For more information on the disease, please contact these organizations:
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: 6172774463
Fax: 6172770134
Tel: 8009068723
Email: info@ntsad.org
Internet: http://www.NTSAD.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
www.sandhoff.org
8825 Hastings Blvd.
Hastings, FL 32145
Tel: (386)202-0018
Email: admin@sandhoff.org
Internet: http://www.sandhoff.org
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
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