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.

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.

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.

KLONOPIN (clonazepam): A benzodiazepine, an anticonvulsant for certain seizures. Klonopin is also used as muscle relaxant. We use Klonopin only when needed. One side effect that was a problem for DJ was increased salivation (very drooly whne on Klonopin). Another consideration for long-term use of Klonpoin is that the body compensates for its presence and the dosage needs to be upped fairly frequently to keep it effective.

ATIVAN (lorazepam): A benzodiazepine, which acts as an anticonvulsant, as a sleep aid, and can also be used for pain management. Lorazepam can be given only when needed like Klonopin. Lorazepam works more quickly than Klonopin but has a more powerful sedative effect. Lorazepam also comes in a liquid form known as Intensol, which can be put in his cheek in an emergency.

DJ started taking a low dose of lorazepam before bedtime when he was 4 1/2 years old. He always has more problems in the twillight zone between waking and going into a deep sleep. It seems to us that he has a lower seizure threshhold between 2-6 AM. The lorazepam helps us all to sleep better at night.

DIASTAT (Valium): A benzodiazepine, a tranquilizer in the form of a rectal gel. We keep Diastat on hand for emergencies, to break excessively long seizures. Sometimes DJ's seizures occur one after another in a cluster and can go upt o 30 minutes, so we have used Diastat as a "fire extinguisher" after five minutes to break the chain and give him a rest.

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.

respiratory concerns

Respiratory problems are big concerns. As the disease progresses, children with Tay-Sachs have difficulty swallowing and clearing secretions. They also have weak coughing and gagging reflexes. Some children have a problem with reflux after they eat. As a result, a big fear for many parents is aspiration, when food is inhaled into the lungs, because aspiration can lead to pneumonia.

First, we try to minimize any respiratory complications by keeping DJ's environment as free of dust and other irritants as possible. We are especially careful because we have two cats. We run an air ionizer with a HEPA filter for a couple of hours every morning.

Second, we keep in mind that one of the main factors causing respiratory problems is inactivity. Frequent position changes also work to loosen any mucus that settles in DJ's lungs. We keep him upright for most of the day to help drain some of the secretions, alternating between being propped up on the sofa, in a stroller, or sitting on someone's lap. We exercise his legs and arms every time we lay him down to change his diaper.

Third, we help DJ to exercise his swallowing reflex and soothe his teeth by letting him chew on something moist, like a wet washcloth. We also brush his gums lightly with water on a baby toothbrush. If his mouth feels moist he tends to produce less secretions.

Fourth, humidity loosens congestion. We run a cool mist vaporizer while he sleeps at night to increase the amount of moisture in the air. The humidity helps to break up congestion.

Fifth, DJ sleeps on a wedge-shaped pillow at night when he has a cold. Elevating his head really helps to drain excess mucus and secretions.

We have been very lucky with DJ. He has not had pneumonia, bronchitis, or even an ear infection until he was 3 1/2 years old.

treating excess secretions

DJ tends to accumulate phlegm in his upper airway. These methods help to loosen and drain the excess mucous.

Chest Physical Therapy - We use chest p.t. to loosen the phlegm a couple of times during the day. We percuss DJ's chest by hand - your hand looks like it is holding a cup of water and you tap on the back, chest and ribs. We also use vibration through a small, handheld massager.

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.

Medication - ROBINUL (glycopyrrolate): DJ started taking Robinul when he was 3 1/2 years old. Robinul is an anticholingeric. We use it to control excessive watering of the mouth and to aid in drying excess secretions.

At first, DJ took a small dose of Robinul at night to help him sleep more comfortably - half of a 1 mg tablet. After six months, we increased the dosage to 2 tablets, one tablet in the morning when he first woke up and one tablet before bedtime. After nine months, we switched to the liquid form of Robinul. He receives 5 cc of Robinul via syringe into his NG tube three times a day, about every eight hours.

Robinul is quite effective in helping DJ to breathe clearly. However, there are two side effects. First, DJ's constipation has returned full force. The Robinul dries out the stool so it is like little pebbles. To help soften the stool, DJ gets an extra 8 to 12 ounces of water every day. We also give him 2 to 3 ounces of prune juice mixed with water twice a week. Second, the Robinul works by thickening the mucus in his throat. Although DJ has a good coughing reflex, sometimes the mucus becomes so thick that he chokes on it. We must use the suction machine to aid him.

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.

stomach ailments

Medication - ZANTAC (ranitidine): an H2 blocker to help decrease the acidic secretions in the stomach. DJ started taking Zantac occasionally when he was 4 years old.