medication and respiratory concerns

startle reflex

seizure management

respiratory concerns

treating excess secretions

respiratory equipment

stomach ailments

Our personal philosophy has been to keep DJ comfortable with the minimal use of medication.

DJ currently takes three medications to alleviate some of the symptoms of the disease. DJ started taking Diamox (acetazolamide) at the age of 28 months. Diamox acts as a mild diuretic to reduce the pressure his brain. At 3 1/2 years old, we added a dose of Robinul (glycopyrrolate) before bedtime to control excessive watering of the mouth which makes DJ more comfortable while he sleeps. Since he turned 4 1/2 years old, DJ takes half a tablet of ativan (Lorazepam) before bedtime.

Pebble.gif (1120 bytes) startle reflex

Babies with Tay-Sachs have a strong startle reflex. Until DJ was 3 years old, we had to be very careful because his startle reflex would sometimes lead to seizures. He hated clapping, coughing, banging, ringing - any loud sharp noise. We put a sign on the door telling visitors to knock softly rather than ring the doorbell. We changed many aspects of our life - we stopped using the microwave, turned down the ringer on the phone, out in door stoppers. We even used paper plates and plastic forks for about 9 months because DJ would startle at the ting of a fork hitting a china plate. We started eating at restaurants in off hours only.

Dampening background noises seemed to help to reduce the startle reflex. We played videotapes of his favorite children's programs like Teletubbies or guitar music softly in the background as white noise on days when he seemed to be prone to startling. We placed ear muffs on DJ and moved him to the another part of the house when we ran the vacuum cleaner. We used ear plugs when we went shopping.

After three years of age, DJ simply outgrew the tendency to startle. The reflex has all but disappeared. He only startles now at a really loud noise. However, old habits die hard - we still cringe and say "sorry DJ" when we drop something or close a door shut.

Pebble.gif (1120 bytes) seizure management

Please remember that our plan for managing DJ's seizures was conceived after several discussions with the pediatric neurologist and the pediatrician. We also update our seizure management plan at regular intervals with our doctors. This plan was also tailored specifically for DJ. Other children with Tay-Sachs have been known to present with seizures and receive different medications . . . so what works for one child may not work for another child.

DJ's seizures are always short in duration, usually lasting under a minute. Over the course of his life, he has exhibited a whole range of seizures. Some come and go, while others seem to disappear as he ages. The seizures themselves are not painful (although they can look painful).

We decided not to put DJ on daily medications for seizures because the side effects of anticonvulsants or antiepiletic drugs can be quite harmful and the doses need to be carefully controlled.

We found that we can help him through many seizure episodes (or seizure-like spells of random muscle jerks) simply by rolling him onto his side. We also found that squeezing his big toe can "snap" him out of shakes and tremors. We will also squeeze the meaty part of his hand between his thumb and index finger to get him to relax through a contracture. These tricks seem to shorten the duration of the episodes, and help to calm him down.

We occasionally have episodes of prolonged or repetitive seizures. We have decised to keep certain medications on hand at home to help with these more intense episodes of seziure activity. We always try to start with the smallest dose possible.

There also seems to be a correlation between inflammation in the brain and seizure activity. We decided to try an experimental treatment to reduce the size of his head after speaking with a pediatric neurologist in California.

DIAMOX (acetazolamide): A carbonic anhydrase inhibitor, acts as a diuretic to relieve pressure and minimize the size of the head. Diamox also is a weak anticonvulsant and is used to treat petit mal epilepsy in children. Diamox is one of DJ's daily medications, which he started taking at the age of 28 months.

For further information: There are a wide range of anti-convulsants available in the United States. One helpful article is entitled "Advancements in the Treatment of Epilepsy", from the July 2001 issue of the Journal for the American Academy of Family Practice. See especially the section called Pharmacotherapy.

Pebble.gif (1120 bytes) respiratory concerns

Pebble.gif (1120 bytes) treating excess secretions

Postural drainage -

In the morning, we place DJ on his stomach on a wedge pillow or a couple of pillows for a few minutes. Since his feet are slightly higher than his head, the secretions just drain out.

Pebble.gif (1120 bytes) respiratory equipment - see also special needs equipment section

We use a bulb syringe to get rid of most secretions in DJ's mouth.

We have a portable suction machine at home. We use a suction catheter to get rid of the thick mucus from the back of DJ's throat. DJ does not require much suctioning when he is not sick, about every 6 hours or so. When he has a bad cold, he can need the suction machine every five minutes. When he is sick, DJ usually suffers from a terribly runny nose and sneezes continually. Then we switch the catheter to a nasal aspirator to clean out his nostrils.

Pebble.gif (1120 bytes) stomach ailments