MEDICAL UPDATE
DJ has classical infantile Tay-Sachs disease. He appeared completely normal at birth on March 12, 1997. He grew from 7 lbs. (3 kg) at birth to 18 lbs. (8 kg) by six months. He learned to sit at 5 months. He started standing with assistance at 9 months. In other words, he hit normal psychomotor milestones until he was 9 months old. We first noticed a problem when he was 10 months old, when he was diagnosed with a slight developmental delay. The delay worsened, turning into developmental regression.
Overall, DJ has been very lucky. DJ startled easily and had some tremors, but did not have true seizures until shortly after he was diagnosed. We chose not to put him on a daily seizure medication because his seizures have always been mild. Most last less than two minutes so he takes medication (benzodiazepines) only when needed. DJ was hospitalized for aspiration pneumonia when he was 3 1/2 years old. After that, it became increasingly difficult for him to get adequate nutrition, so we placed a NG tube (a nasogastric feeding tube) that runs from his nose down into his stomach. He now receives liquid meals (Pediasure) and crushed medicine through the NG tube.
Although he is faced with increasing physical limitations, DJ remains fairly active at the age of five years. He continues to have a strong coughing reflex, so we do not use the suction machine much. Most extra secretions can be handled by a bulb syringe, mild chest physical therapy, and postural drainage. DJ does not have a problem with contractures or paralysis. He moves his own body around a lot. He likes to stretch out his limbs and twist his back, especially to give big yawns. When placed on his stomach, he can even lift his head without assistance and hold it up for about 10 - 20 seconds.
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PEDIATRIC HOSPICE
We started with the pediatric hospice in our town when DJ was 3 1/2 years old. Our hospice team at the Palliative CareCenter and Hospice of the North Shore has been very respectful of our decisions regarding DJ's care, including the use of antibiotics to treat pneumonia.
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MORE TIPS FROM PARENTS
 NTSAD -Ontario (www3.sympatico.ca/ntsad/)
The web site for the Canadian affiliate for NTSAD contains a document entitled "Home care for a child with neurological disease". This document was written by a parent of a child with Tay-Sachs and outlines some practical strategies for taking care of your child at home. Look under "Resources and Links."
Cameron & Hayden Lord Foundation (www.lordfoundation.org)
One of the primary objectives of the Cameron and Hayden Lord Foundation is to provide coping resources to families with terminally ill children. The web site contains a section on coping tips from families who have cared for their children with great love and success. Many of the tips revolve around homecare, other tips are concerned with such exterior issues as advocating for insurance coverage and how extended family members can help. Some of the tips originate from Tay-Sachs families and may pertain specifically to that and related diseases; others are disease neutral.
CarePoints (www.carepoints.org)
A new web site which discusses care for medically complex children and their families. Includes a resource and support center for parents, caregivers and health care professionals.
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HOME CARE TIPS
At first, we kept searching for the perfect guidebook to help us care for a child with a neurodegenerative disease. However, there aren't any parenting books that can tell you what to expect in this situation. Our main source of information and comfort has been other parents that we met through the Parent Peer Group maintained by the National Tay-Sachs and Allied Diseases Association (NTSAD). Hence, we decided to include some of our personal experiences with this disease.
These tips are not intended as a substitute for professional medical advice. Treat these as anecdotal information based on our own experiences. We are not endorsing any individual therapy or medication. The disease course can be quite different for childen with the same disease, so some of the information may not apply directly to your child. Please discuss all of your care decisions with your child’s physician.
playtime
therapy and massage
This page includes DJ's experiences with physical therapy, occupational therapy, speech therapy, water therapy, exercise at home, and massage.
day-to-day care
This page talks about daily life with DJ, covering issues such as constipation & elimination, positioning, sleeping, caring for skin and hands, oral care, eye care, and body temperature.
special needs equipment
Notes on choosing a Car Seat, Stroller/Wheelchair, and Bathing tips.
feeding DJ
This page has tips on oral feeding from spoon to bottle feeding. There is a short discussion on long-term feeding options like a feeding tube.
medication and seizure management
Our philosophy has been to try to achieve a good quality of life with minimal use of medications. This page focuses on seizure management.
respiratory concerns
Respiratory problems are a big concern. As the disease progresses, children have difficulty swallowing and clearing secretions. They also have weakened coughing and gagging reflexes. This page contains information on preventive measures for managing excess secretions.
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ADDITIONAL RESOURCES
American Academy of Pediatrics (www.aap.org)
Many handouts for parents covering topics ranging from how to treat the common cold to choosing a car seat for a disabled child.
Exceptional Parent magazine (www.eparent.com)
Exceptional Parent's online resource. Continuing 30 years of providing information, support, ideas, and outreach for parents and families of children with disabilities and the professionals who work with them in the United States. Exceptional Parent is located in Oradell, NJ at tel. (201) 634-6550.
Family and Medical Leave Act - FMLA
(www.dol.gov/esa/whd/fmla/)
The U.S. Department of Labor administers and enforces the Family and Medical Leave Act (FMLA) for all private, state and local government employees, and some federal employees. A covered employer must grant an eligible employee up to a total of 12 workweeks of unpaid leave during any 12-month period to enable them to care for an immediate family member (spouse, child, or parent) with a serious health condition. Under some circumstances, employees may take FMLA leave intermittently — which means taking leave in blocks of time, or by reducing their normal weekly or daily work schedule. FMLA leave may be taken intermittently whenever medically necessary to care for a seriously ill family member.
An internet site focusing on information and resources for persons with cognitive and other disabilities, for their families, and for those that provide them services and support.
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MEDICAL HOME FOR KIDS WITH SPECIAL NEEDS
Davis attended a medical home training program sponsored by the American Academy of Pediatrics (AAP) and the Shriners Hospitals for Children on April 13, 2002. This national program emphasizes the importance of the relationship between the family and medical professionals in providing optimal care to children with special needs. Pediatricians, family physicians, allied health professionals, and families came together to discuss strategies for overcoming financial barriers within managed care; resources for developing community networks for kids with special needs; care coordination for providing family-professional partnerships; and transitioning children with special needs to adulthood.
Parents of children with special needs are invited to participate in similar medical home training programs across the United States. Visit the web site of the American Academy of Pediatrics at www.aap.org and look under "Community Pediatrics" for more inforrmation about the medical home programs in your state.
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