Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
First signs - Early symptoms of Juvenile Tay-Sachs include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.
Gradual Loss of skills - Over time, children with Juvenile Tay-Sachs slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia. Many have seizures.
Range of Severity - Juvenile Tay-Sachs has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress. For example, a child with first symptoms at age 2 will decline faster than a child with first symptoms at age 5.
Tay-Sachs disease is diagnosed through a blood test to check the level of
Hexosaminidase A (Hex-A). A follow-up DNA test may be recommended. Any doctor can order the Tay-Sachs Hex-A blood test. Often, diagnosis is made by a neurologist or geneticist.Diagnosis can also be made by a neurologist or geneticists and the completion of a metabolic evaluation.
Juvenile Tay-Sachs does not always exhibit the
cherry-red spot, which can make the road to diagnosis long and challenging. Unfortunately many healthcare providers are not aware of the rare juvenile forms of these diseases and dismiss the initial diagnosis due to the age of the child.
There is no treatment or cure for Tay-Sachs disease but there are ways to manage symptoms. These range from life extending interventions like a feeding tube to comfort measures like massage to promote relaxation. Each new diagnosis of Tay-Sachs is a unique journey.Progressive loss of ambulatory skills followed by respiratory health and
seizure management are the main symptom management issues in Juvenile Tay-Sachs. Recommendations for managing the symptoms appear in Tay-Sachs Support.Newly diagnosed families should read Finding Your Philosophy of Care, available through NTSAD. It will help parents develop a care plan and care goals to aid in major care choices.
National Tay-Sachs & Allied Diseases Association2001 Beacon StreetSuite 204Boston, MA 02135
firstname.lastname@example.org(617) 277-4463 phone(617) 277-0134 fax
Meet Gavin Marquez, diagnosed with Juvenile Tay-Sachs. Read his story
Biotechnology Info www.ncbi.nlm.nih.gov
At NTSAD, we are making a difference. Every day. Helping families and individuals find their way and providing hope by supporting research on many levels. All of this takes compassion and determination.
There is no time to waste, and families need our help. Those who are fighting today and those who will seek our help tomorrow.
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