"The journey of a thousand miles begins with one step."

- Lao Tzu (570-490 BCE), Chinese philosopher

This section contains more information about the events leading to the diagnosis of DJ's illness.


to the most recent entry

December 1997

(9 months)

At DJ's nine-month checkup, we told our pediatrician that we had noticed a potential problem. At that time, DJ wanted to stand but could not support weight on his right foot when he pulled himself up. She suggested some exercises to do at home and scheduled an extra appointment to check on his progress in January.
January 1998 

(10 months)

DJ still could not support his weight. He would get up on all fours, but couldn't crawl. An orthopedics consult ruled out bone deformities and muscular diseases. Physical therapy evaluation followed and DJ was diagnosed with a slight developmental delay. We started physical therapy once a week.
March 1998

(1 year old)

The developmental delay showed no improvement by DJ's first year checkup. He had not gained much weight since his peak of 19 pounds (about 8.6 kg) at nine months. Blood and urine tests were done, but nothing conclusive surfaced.
April 1998 (13 months)

Speech therapy evaluation reflected skills around 9 months old, with scattered skills appropriate to DJ's age. Occupational therapy evaluation showed that the developmental delay was getting worse. We added one day a week of occupational therapy to the physical therapy.

We went to see a pediatric neurologist on April 7. Our fourth round of blood and urine tests were ordered, looking for evidence of a metabolic disorder.

An MRI (Magnetic Resonance Image) revealed some minor abnormalities in DJ's brain on April 23. Our fear deepened.

May 1998

(14 months)


We had the wind knocked out of us on May 12. The pediatric neurologist told us that he thought it was Leigh's Syndrome, a rare mitochondrial disorder affecting children, based on the MRI findings. We were told that the disease affects the central nervous system and that DJ would lose his motor and cognitive skills one-by-one. This seemed inconceivable as we pushed him on his scooter to the park.

We began to contemplate a future with a severely disabled child. It was difficult to imagine that DJ might never grow into adulthood.

DJ had his fifth round of blood tests in mid-May. His pediatrician requested monthly visits from this point to monitor his progress. A hearing test was scheduled but DJ was not very cooperative, so an ABR (a test that directly measures the brain's response to auditory stimuli) was recommended. The audiologist noted that DJ seemed sensitive to sharp noises.

June 1998

(15 months)

DJ slumped for the first time when sitting. When DJ sat in a high chair at a restaurant,  I had to place a cloth book behind him to provide better support for his back. He could no longer raise himself on all fours. One day, after we noticed that he was more fatigued than usual after playing with toys at a birthday party, we realized that the physical regression was permanent.

The blood tests failed to confirm Leigh's Syndrome. More blood tests were ordered.

July 1998

(16 months)

DNA test for Leigh's Syndrome was inconclusive. Back to square one with testing and a diagnosis.

ABR hearing test revealed that DJ has normal hearing in all but the lowest frequencies. The audiologist found it puzzling that despite sedation, he seemed to sleep shallowly and startled easily.

DJ kept growing taller, but had not gained much weight despite more than adequate calories. Constipation became a problem this month, but we managed through diet rather laxatives.

DJ could no longer sit unassisted. We were heartbroken when we had to witness his frustration. He started playing with his toys while lying on his side or on the tray of his high chair. We pulled out the gym-mini that he discarded at 10 months - he could lie on his back and play with the objects above him. When PT and OT started discussing possible equipment for children with special needs, I realized that DJ had quietly slipped into that category in everyone's eyes but my own.

August 1998

(17 months)

DJ seemed to be worse suddenly towards the end of the month. He could no longer hold up his head for more than a minute when he was placed on his stomach. DJ responded more to auditory cues than visual ones. He stopped reading books, one of his favorite pastimes, because he can no longer turn the pages. He stopped talking to himself in the mirror, looking right through his own image. He did not always track lights and toys with his eyes. We noticed nystagmus (a rapid, exaggerated involuntary eye movement) when he tilted back too quickly. Yet, the blood test at his monthly visit with the pediatrician revealed no significant metabolic changes.
September 1998

(18 months)

A pediatric ophthalmologist found "cherry-red spots" in the back of DJ's eyes on September 14. This finding indicated a lysosomal storage disease like Tay-Sachs disease. She called DJ's neurologist and we went to see him the next day. We read Davis's medical texts throughout the night and searched the Internet for more information. On September 15, the neurologist ordered blood and urine tests to determine the specific storage disease. We were told it would take two weeks to get the results.

DJ returned to see a pediatric GI (gastroenterologist) on September 21. We decided to postpone the preparatory procedure for a feeding tube. DJ had no reflux symptoms or swallowing problems, and a feeding tube seemed excessively invasive.  The GI recommended a more aggressive approach for DJ's constipation - a high concentration sugar called lactulose, by prescription. We tried it out for a couple of weeks, but the extra juice and fiber from fruits worked better. The nutritionist checked his diet again but he had more than enough calories and nutrition in his current diet. The neurologist ordered an extra blood test to check for another storage disease called metachromatic leukodystrophy (MLD).

On September 22, DJ had a speech reevaluation. He regressed to the level of a six-month old. Yet, DJ had a strong chewing and swallowing reflex. She gave us some pointers on preventing gagging; we now stick to thicker fluids and nectars.

DJ began to have balance problems. The nystagmus (involuntary eye movement) was getting worse when we lay him on his back. We started laying him on his side to sleep because he startled less that way. He especially hated sharp noises like the telephone or doorbell, even the ting of forks on china plates.

October 1998

(19 months)

The neurologist informed us on October 1, that DJ had infantile Tay-Sachs disease. Our last avenue of hope closed. We saw the Geneticist on October 8. She ordered a DNA analysis for DJ from Thomas Jefferson University Hospital to try to find the exact defect. She ordered red cell and leukocyte hex-a levels for Davis and me, to confirm that we were carriers. We found out three weeks later that we were carriers, however, they could not find the exact mutation in DJ. This was not surprising because there are more than 50 known mutations, but the laboratories here in the United States routinely test for only nine of the most common ones.

A member of the Parent Peer Group of the National Tay Sachs and Allied Diseases Association (NTSAD) contacted us on October 10. She was very supportive and we felt less isolated for the first time in months.

DJ could no longer control his head. He flopped forward so we changed his car seat back to rear-facing. We wedged his head between two Beanie Babies stuffed animals when he sat in the car seat or stroller. He stopped rolling over by himself. He hated being placed on his stomach.

We discontinued physical therapy. There were many reasons- Our PT was leaving and it was increasing difficult for DJ to be handled by strangers. DJ's tolerance for physical exertion was much lower - down to 25 minutes. The long commute was difficult for DJ, especially with bad winter weather coming up. We decided to drop back to occupational therapy once a week after mid-October. DJ needed passive exercises to prevent contractures as his heels started getting tight.

DJ was sick for three days, and had his first fever. It was scary, because the consequences of a respiratory infection can be bad for children with Tay Sachs. At his monthly checkup, his pediatrician recommended a flu shot. DJ completed his childhood immunizations and had a varicella (chickenpox) vaccination. We hoped that these preventive measures would keep him from getting sick this winter.

We collected fallen autumn leaves on our afternoon walks. DJ liked the red maple leaves the best when I showed them to him. I pressed these in my books, because I wanted mementos of moments when I knew DJ was happy and aware of his surroundings.

November 1998

(20 months)

We changed to home health care, rather than going to the pediatrician's office. A visiting nurse came once a month to check DJ's weight and his progress. On her first visit, he weighed just under 20 lb. (9 kg)., was 31 inches (78 cm) long, had a strong heartbeat, and good respiration.

DJ had seizures that were not sound-induced for the first time this month. His arms and legs stiffened momentarily, pointing up toward the sky. He cried in fear when they were over, which was quite heart-wrenching. However, we needed only to change his position to break the seizure. The seizures started when DJ was thrown a little off-balance, so we became more careful about how we positioned DJ.

December 1998

(21 months)

We decided to stop occupational therapy as well. We considered trying water therapy, but we have decided against this course of action. DJ only enjoyed about 15 minutes of physical exertion, then he became irritable and cried. He no longer reached for toys so we once again put away the gym-mini. We continued to do passive stretching exercises each day at home in an effort to keep him loose and prevent contractures. We tried to find a physical therapist in our area that does home health care.

We decided to limit DJ's trips outside the house to under 90 minutes. He would have seizures in his car seat when we had to turn a corner or go over railroad tracks. Many of the noises in restaurants bothered him.

DJ began to exhibit signs of neurological degeneration. As he tired, he chewed on his spoon and lower lip. He needed short catnaps throughout the day. He did not focus well on objects, so he preferred musical toys. Luckily, he still focused on faces and looked at photographs.

At the second home visit from the nurse, DJ weighed just under 20 lbs.(9 kg), but grew to 32 inches (82 cm) long. He had a strong heartbeat and clear lungs.

January 1999

(22 months)

At the nurse's third visit, DJ weighed in at 18 lb. (8 kg) exactly. It was getting harder to feed him because he chewed on his spoon at almost every meal. He often thrust his tongue against the spoon, pushing it out of his mouth. We continued to feed him crackers and "kit-kat" candy bars; he liked to bite down on these as his back teeth were coming in.

DJ's vision diminished; he no longer looked at objects or photos very often. He still distinguished between light and dark. However, he listened intently. He liked to hear the prerecorded children's songs on his keyboard and the sound of children's voices. He switched toward longer naps, some lasting up to 2 hours in the afternoon. He smiled when he was happy, especially when kissed, and laughed occasionally.

February 1999

(23 months)

At the nurse's fourth visit, DJ weighed 18 pounds and 6 ounces (about 8 kg). He grew to 33 inches (about 84 cm) long. He had a strong heartbeat and clear lungs.

DJ had small seizures daily now. We rolled him over on his side and they usually subsided within a minute. The seizures frightened him but did not seem to cause him any pain. He was easily soothed, with gentle voices and hair-stroking. Sometimes I knew the second the seizure started because I felt the muscles spasm under the surface of DJ's legs. I often curled my body around him during the seizures and tried to absorb all the aftershocks.

March 1999

(2 years old)

DJ had his second serious illness this month when we were on vacation in Arizona. He had the stomach flu. The two days of high fevers exacerbated the seizures, but were managed with Infant's Tylenol and cold compresses. Dehydration was our main fear because DJ had diarrhea or threw up his most of his food. He slept a lot and had more seizures, so it was difficult to give him fluids. We were also in an extremely dry and warm climate. We managed by giving him a bottle every two hours of Pedialyte, Pediasure, or juice. We took turns staying up with him throughout the night. The illness ran its course in about five days, but it took almost three weeks for DJ to recover fully and get back to a regular eating and sleeping schedule.

Just a few days before DJ's second birthday, he had a new kind of seizure. He passed out for the first time. His right arm twitched upward a few times, then his eyes rolled back into his head, and he lost consciousness for about a minute. Despite the drama, he breathed normally during this seizure. In the entire month, we saw this seizure only about four times.

DJ's second birthday was a wonderful day. I looked at the faces of our family, gathered around our son with such loving care, and realized that we were very blessed.

April (25 months)

We saw DJ's pediatrician in her office after a long interval. DJ had lost weight, weighing in around 17 lb. and 9 oz. We discussed DJ's seizures. Many parents told us that their children experienced seizures ranging from 15 - 20 minutes in length, or that their children stopped breathing during the seizures. DJ's seizures were still short in duration, so we were not overly concerned. We anticipated longer seizures in the near future, so the pediatrician prescribed Diastat (Valium) for emergencies.

DJ's swallowing reflex weakened. It was difficult for him to cough up mucus from the back of his throat, which makes it hard for him to breathe at night. We had to suction out the mucus with a bulb syringe at first. A suction machine for home use arrived at the end of the month.

DJ communicated with us daily. He would give us long babbling talks with an earnest face, or complained reprovingly when he wanted a change of position. He would get a look of anticipation on his face when he thought he was going to be picked up. As the weather improved, he loved taking long walks outside in the sunshine. DJ listened to the birds with a look of utter contentment. These daily communications meant the world to us.

May 1999

(26 months)

We took a road trip to White Plains, New York, to attend the National Tay-Sachs and Allied Diseases Family Conference, from April 29 - May 2. The program included workshops on research, home care, fundraising, and a discussion on pregnancy and alternatives. The NTSAD Conference was a tremendously positive experience for us. DJ met ten other children with Tay-Sachs disease.

We found a wide variety of experiences among the parents. At 26 months, DJ is doing reasonably well. DJ was not on seizure medication and is still quite alert and reactive despite the physical limitations of his body. DJ takes his meals by mouth, and not by a feeding tube. We were able to take care of him at home without nursing assistance and had no hospitalizations.

We changed DJ's feeding routine this month. It was taking up to 90 minutes per meal to feed him by spoon. In addition we worried about aspiration because he often gagged on juice and Pediasure. We switched to a baby bottle with a modified nipple (I cut a larger opening). We mix 2 oz. of pureed food into every 4 oz. of Pediasure. DJ can drink this thicker mixture in about 10 minutes. He gained a little weight this month as a result.

June 1999

(27 months)

DJ saw his neurologist on June 9. He weighs 21 1/2 pounds (9.9 kg) and is 33 inches tall (84 cm).

We were worried about DJ's enlarging head. For the past six months, his head circumference was always around 47 cm. However, in the last month, it jumped suddenly to 53 cm. In addition, his anterior fontanel (soft spot) was noticeably larger. The posterior fontanel, which closed, reopened. Moreover, the sutures in DJ's skull split open in the first week of June. Although we were initially concerned about the possibility of hydrocephalus (fluid increase putting pressure on the brain), we found that head enlargement is common in the course of Tay-Sachs at DJ's age. After consulting with DJ's neurologist, we started a medication called Diamox (acetazolamide) to help relieve some of the pressure in his head. DJ received a nightly dose of Diamox from June 25. *There is more about Diamox in a sub-section called "Medication and Respiratory Concerns" of Caring for DJ at Home.

July 1999

(28 months)

On July 6, DJ had trouble with seizures so we gave him a low dose of Klonopin (clonazepam) to help him sleep through that night. This is the first time we have used an anticonvulsant. We noted a change in DJ's seizure activity this month. He occasionally had bigger, jerky movements of his limbs as well as involuntary facial grimaces. However, we did not need to use an anticonvulsant at any other point in the month.

On July 7, one of DJ's friends from the NTSAD Conference succumbed to Tay-Sachs. Kyle will always remain in our hearts as DJ's special guardian angel.

After one month, we observed that the Diamox seemed to ease the pressure in DJ's head. His head stopped enlarging. His fontanel became softer and depressed. In general, he seemed more alert and actively moved his own limbs. DJ's biggest problem from the Diamox was diarrhea, anywhere from daily to 2-3 times a week. Although this was messy, it solved his constipation problem : ).

August 1999

(29 months)

DJ continued to take Diamox. He adjusted to the medication and the diarrhea is no longer a problem.

DJ took advantage of the beautiful weather and summer sunshine. He enjoyed going out in his stroller, walking by Lake Michigan or in the woods. He was spoiled a few times by his grandparents who continue to let him nibble on birthday cake and chocolate. He was quite vocal about his love of chocolate. He loved his nightly baths, especially kicking his feet in the water. The summer passed quickly but happily for us.

September 1999

(30 months)

DJ saw his pediatrician for a checkup on September 22. He gained weight, and weighed 25 pounds (11.3 kg). He was quite lanky and long, measuring almost 3 feet tall (89 cm). There has been no change in his head circumference since he started taking Diamox in June.

DJ's dad, Davis, took some time off from work this month through family leave. DJ thrived with the extra attention!

We took a weekend trip to Saugatuck, Michigan. We had lovely, warm weather. DJ spent some time on the beach and at an apple orchard. He also went swimming in the pool. When DJ was in the water up to his shoulders, he only needed support for his head. He "walked" up and down the shallow end. He enjoyed this sensation of locomotion a lot, which made us extremely happy.

October 1999

(31 months)

In general, DJ remained quite active and alert. He could turn his own head from side to side. He moved his arms to stretch or rub his eyes. There have been some minor problems. DJ was increasingly distressed by position changes. He would often have bad shakes and tremors when we had to move him. He needed especially good support for his head. DJ started having more problems with excess mucus in the back of the throat. Sometimes, we let him sleep on a wedge pillow at night; having his head elevated helped the congestion to drain.

Our friend, Tina Dean, started a chat room for parents of children with Tay-Sachs and allied diseases. It was a great resource for exchanging information about medications and procedures, and for receiving support. It also helped to lessen our feeling of isolation. The parents shared laughter as well as sorrow.

November 1999

(32 months)

The Kid-Kart wheelchair arrived the day before Thanksgiving. Our friends, Dawn and Vince Cassady, sent it all the way from Maryland! We adjusted the wheelchair to fit DJ so he had good support around his chest, keeping him upright and making it easier to feed him. DJ liked his chair a lot because he could turn his own head whenever he wanted.
December (33 months)

By Christmas, DJ had been on Diamox (acetazolamide) for 6 months. His head circumference increased by only 1-cm since June.

DJ's swallowing reflex gradually weakened. Occasionally, he gagged, choked or threw up his food. We used several measures to help him. We thickened the Pediasure with more food, moving up to about 3 ounces of pureed food in 4 ounces of liquid. We turned to more frequent feedings with smaller bottles. We kept him upright in the Kid-Kart wheelchair or tilted his head forward when he ate.

The weaker swallowing reflex led to more trouble with congestion and excessive mucus in the back of his throat. DJ occasionally slept on a wedge-shaped pillow to elevate his head and help with drainage. We also had to use a little suction at night to break up what he could not cough out himself.

On the brighter side, DJ was pretty alert during the day. DJ could distinguish light because he always turned his face towards a window or toward the sun. He was also quite verbal, letting us know when he wanted to be picked up or sit on someone's lap.

January 2000

(34 months)

Lisa Miner, a reporter from a local newspaper, interviewed us and the article appeared in the Daily Herald on January 17. The article focused on the importance of carrier screening. Screening has drastically reduced the incidence of Tay-Sachs within the Jewish community over the past thirty years. However, an estimated 2/3 of cases are diagnosed among non-Jewish children today.

Since July, we managed DJ's seizures only as needed with a tranquilizer called Klonopin (benzodiazepene). The seizures were more frequent, but they were triggered less by noise than by motion and changes in his position . We usually could break the seizure by holding him or lying DJ on his side. We have only used Klonopin on four occasions, to allow DJ to sleep at night.

February 2000

(35 months)

On February 6, a temple near us sponsored free blood tests to screen for Tay-Sachs and Canavan diseases. There were other screenings throughout Chicago this month.

In the last week of the month, DJ's problem with constipation resurfaced. We increased his daily fluid intake and exercised him more frequently during the day to ease the problem. DJ's stools were soft but he had trouble with motility. As a result, we had to extract the stool.

March 2000

(3 Years Old)

DJ had a lovely party for his third birthday on March 12, with all of his family around him. He was tall, over 3 feet, and weighed close to 30 lbs. (14 kg).

We noted a change in the pattern of seizures. There was a kind of seizure which where DJ actually cried out. His arms and legs were extended and twisted which appeared to be painful. The episodes were short, under 90 seconds, and could be stopped by gently massaging him until he was able to relax. DJ also had some seizures that looked as though he was having a stroke. Our friend, Joel DuVall, called this seizure the "Popeye" face, because of the lopsided grimace. Both of these seizures occurred only once or twice during a day. We decided not to put DJ on anti-seizure medication yet.

April (37 months)

We attended our second NTSAD Family Conference in Denver, Colorado, from April 27-30. We saw friends and hugged children we have grown very close to since the conference last year. We also met healthy siblings, held new babies, and greeted new families. We grieved for DJ's friends whom we lost to Tay-Sachs over the past year: Conner, Joshy, Kyle, Noah, and Talia.

After the NTSAD Conference, the three of us went to the Rocky Mountain National Park. We spent some time in the sunshine and cool mountain air. We walked together and reflected on the past year, feeling very lucky because DJ was doing so well at the age of 37 months. DJ was not on any daily seizure medication. He was still quite alert. He could turn his head and had some control over the movement of his limbs. He ate by mouth and not by a feeding tube. We were able to take care of him at home without nursing assistance and had no hospitalizations.

May 2000

(38 months)

The warmer weather this month allowed DJ to spend more time outdoors. He loved the sunshine coming through the trees, and always turned his head toward the light. He blinked when the sunlight was too strong, indicating that he definitely still saw light. We noted however that his eyesight has become worse. He did not flinch when objects came near his face. He also did not blink as often as he should, so his eyes teared occasionally (probably from being too dry).
June 2000

(39 months)

We have monitored the enlargement of DJ's head over the past year. His head circumference currently measured 55 cm. He received a nightly dose of Diamox (acetazolamide) since last June. The sutures of his skull, which had split last June, have fused together again. The posterior fontanel (soft spot in back), which reopened at this time last year, is now completely closed. Only the anterior fontanel on the top of his head is still open, measuring about 2-cm wide.

Our friend, Tina Dean, started an email support group for parents of children with Tay-Sachs and allied diseases. We have met many people through this "Chat-By-Email" group whose children are affected by a variety of genetic diseases including Canavan Disease, GM1, GM2, Metachromatic Leukodystrophy, Niemann-Pick, and Sandhoff Disease.

July 2000

(40 months)

DJ's pass-out seizures have returned. His eyes rolled back into his head, and he became completely limp, like jelly. He is out for anywhere between a minute and up to 2 hours. Despite the drama, he breathed normally during these episodes. We first saw this seizure just before DJ's second birthday. The pass-out seizures occur for a week to ten days, then disappear again for 2 or 3 months.

We noticed that DJ hyper-extends his limbs during seizures. We also noted that his heel cords are becoming tighter, despite daily passive exercises at home. We decided to return to physical therapy. DJ and his mom started a swim class for children with special needs. The class was taught by an aqua therapist from the local hospital. DJ loved the warm water pool and being around the other kids! Check out our pictures from aqua therapy.

August 2000

(41 months)

DJ's swallowing ability continued to decrease. We started using the suction machine daily for the first time. He needed to be suctioned once during the night, to get rid of the thick mucus in the back of his throat that he had trouble clearing by himself. By the end of the month, we used it once during the day too.

DJ loved his water therapy class and it was the highlight of his week.

September 2000

(42 months)

Davis and I periodically have discussions about end-of-life issues for DJ. Davis took some time off and we decided to start funeral arrangements. Other parents of affected children advised us to look into the arrangements in advance and to make some preliminary plans when your child is relatively healthy. We found a funeral home near us that we liked. The director was very nice and eased us gently through the arrangements.

The weather was good and we spent much of our time outdoors, in our backyard or at the woods. DJ enjoyed riding in his stroller, with the sun on his face and a breeze in his hair.

October 2000 (43 months)

DJ had his first pneumonia at the end of October. He had difficulty eating for a few days with a lot of coughing and secretions. On a Tuesday, he had a fever over 103 degrees F and was breathing very rapidly. He was taken to the hospital and had a chest x-ray. Luckily he seemed to recover quickly, and was able to go home after a overnight stay.

Aspiration probably caused his pneumonia. To help him recover, DJ had a nasogastric tube (NG tube) placed. The NG tube ran into his nostril and down into his stomach. DJ gets liquid feedings, antibiotics, and Diamox through the tube. DJ lost a little weight (he went down to 23 lbs/10 kg) so the extra nutrition should help him gain weight. There is a whole page called Feeding DJ about our road from oral to tube feeding.

November 2000

(44 months)

DJ recovered from pneumonia quickly. However, his excess secretions presented a problem. He often sounded like a coffee percolator. We tried a medication called Robinul (glycopyrrolate). Robinul is an anticholinergic. We used it to control excessive watering of the mouth and to aid in drying excess secretions. DJ usually took a small dose of Robinul at night to help him sleep more comfortably.

DJ made some new friends when we started with the pediatric hospice in our town (the Palliative Care Center & Hospice of the North Shore). Our hospice nurse, Dot, visited DJ every other week for a health check-up. There is a link to our hospice web site on the Caring for DJ at Home section.

A physical therapist evaluated DJ at home. She was pleased to see that he did not have a problem with contractures. She showed us exercises we could do at home to keep him loose.

December 2000

(45 months)

Although we considered returning to oral feeding, we found that DJ's ability to suck was considerably weaker. We decided to keep the NG tube in place. DJ continued to receive most meals and medications (Diamox and Robinul) through the tube. He still liked the taste of food in his mouth, so we occasionally treated him to frosting, whipped cream, yogurt, or chocolate syrup by spoon. By mid-December, DJ's weight was back over 30 lbs. (14 kg).
January 2001

(46 months)

We noticed that the secretions increased this month. Luckily, DJ's lungs remained clear despite all the gurgling and secretions. All secretions were concentrated mainly in the upper airway.

We used a couple of methods to get rid of these secretions. In the morning, we used chest therapy to loosen the phlegm and postural drainage to get it out. We cleared the thin and clear secretions from DJ's mouth with a bulb syringe. Sometimes, we had to use the suction machine to clear the thicker mucus from the back of his throat to prevent gagging.

February 2001

(47 months)

DJ developed a problem with his feedings at the very end of the month. We noticed that his breath sometimes smelled sour when he burped. One night, he threw up just before it was time to change his NG tube and we noticed dried blood. We were concerned with Gastro-Esophageal Reflux, when acid from the stomach is regurgitated up into the esophagus. We decided to change his feeding schedule to smaller meals over a longer period of time. We became more careful about his position during feeding, taking care to keep him upright. DJ started taking medication just before his main meals - a H2 blocker called Zantac (ranitidine), to decrease the acidic secretions in his stomach.
March 2001

(4 Years Old)

DJ passed a major milestone this month - he turned four years old on March 12. His parents were happy to note that he weighed over 35 pounds (16 kg), and was quite long and lanky. We were very thankful for our family and friends who celebrated with us - their love and good wishes for DJ meant so much to us.

We reflected on some of the changes we witnessed in DJ this past year. His ability to see was almost gone, although his hearing was quite acute. His swallowing reflex weakened so we started using a suction machine daily in the fall. He had his first pneumonia due to aspiration and subsequently his first hospitalization at the end of October. DJ no longer ate primarily by mouth, but took meals through a NG tube. Although he did not take medication to control his seizures, DJ now took three medications daily for other symptoms of the disease: Diamox to reduce the pressure on his brain, Robinul to control excess secretions, and Zantac to control the acidity in his stomach.

On a positive note, DJ was by no means lethargic or vegetative as predicted by much of the literature on Tay-Sachs. He was alert for most of the day, and he moved himself around a lot, turned his own head and stretched his body at will. He was very loose, and did not have a problem with contractures or paralysis.

April 2001

(49 months)

We attended our third NTSAD Family Conference in Tampa, Florida, from April 19 - 22. We had a good time playing with healthy siblings by the pool and talking to fellow parents into the night, getting a few good laughs in here and there. Akari's parents also attended as members of the Grandparent Group so we were able to spend some time with them in the Florida sunshine. Check out the link to the Tampa Conference page.

To be honest, this was also a year of many heartbreaks for us. We grieved deeply for DJ's friends whom we lost to Tay-Sachs over the past year: Colton Dean, Nick Du Vall, Harry Hoffman, Nicole Hunter, Lila Levine, Hayden Lord, Purvesh Mandalia, Otto Mononen, and Emma Zimmerman. It has been incredibly painful yet moving to see the parents lose their children.

May 2001

(50 months)

Many people asked us if DJ was still expressive. We followed DJ's cues and responses easily, so we knew when he was uncomfortable or when he was happy. He continued to communicate with us through chirping and babbling noises when he was in a good mood. We could tell when he was complaining because of low grumbling noises and his grumpy face. DJ also expressed clear preferences. He did not like the suction machine so he would grimace and bite down on the catheter, or thrust it completely out of his mouth. When he got a taste of something he liked in his mouth, he sucked it down quickly and looked eagerly around to see if more was coming. He smiled when he was content or happy. Check out DJ's smile as he does his favorite activities.
June 2001 (51 months)

June 6: DJ became a BIG BROTHER! Find out more about DJ's big adventure and the birth of his baby sister, Madison Claire.

Madison's arrival stirs up many emotions. For a long time, Davis and I have become comfortable living in the present moment with DJ. We don't know how long he will live and a life without him seems too painful to contemplate. However, having a newborn forces us to look toward the future again.

We feel that Madison has given us a great gift. She is remarkably like DJ at the same age, so seeing her kick, move around and smile brings back many happy memories. It is also amazing to watch DJ react to her antics. She definitely makes life more interesting for him. See pictures of DJ and Madison together in the photo album under "Mad Month One."

July 2001

(52 months)

We changed DJ's medication routine over the past month. We found that DJ did not need to take Zantac (ranitidine) on a daily basis so we took him off the medication at end of June.

We have monitored the enlargement of DJ's head over the past two years. His head circumference currently measured 55 1/2 cm. He continued to receive a nightly dose of Diamox (acetazolamide).

August 2001

(53 Months)

DJ had more difficulty handling his secretions. Sometimes he would vomit as a result of gagging on his own mucus. We increased his dose of Robinul (glycopyrrolate). We also switched to the liquid form of Robinul so we could divide the dosage and give it every eight hours. See the medication subsection of "Caring for DJ" for more details.
September 2001

(54 Months)

September 9: DJ appeared in a television news story entitled "End of Life: Hospice Care for the Young", which was broadcast on PBS (Public Broadcasting channel). The story focused on palliative care for three children with life-threatening diseases.

The seizures became worse at night, especially after 1 AM. We decided to give DJ a small dose of Ativan (lorazepam) before bedtime to enable a more restful sleep. One night, DJ had a prolonged seizure. Luckily, we had Diastat (rectal Valium) on hand at home to break the seizure. See the medication subsection of "Caring for DJ" for more details.

DJ also had a bad cold during the latter half of the month. Our hospice nurse, Dot, brought a nasal aspirator for the suction machine, which helped a lot.

DJ was evaluated by his physical therapist. She noted that his contractures are very mild, and showed us some additional exercises for his feet and hands. She also recommended some positioning adjustments. Then the rehab specialist adjusted the Kid-Kart wheelchair (which we mainly use as a feeding chair) and ordered a 45-degree wedge pillow for DJ.

October 2001

(55 Months)

DJ weighed 35 pounds (16 kg), and is quite tall. We started using a bath chair. This Rifton Blue Wave bath chair enables us to lift DJ in and out of the tub easily. It has head supports as well as safety straps across the chest and lap, so he felt quite secure. The bath chair was also quite light and folded flat for easy storage.

We realized that a whole year has passed since the NG tube was placed and we entered a hospice program for DJ. To celebrate, we had a little party for DJ and Madison for Halloween. You can see their costumes in the photo album.

November 2001

(56 Months)

DJ received a special needs car seat from Shriners' Children's Hospital. The rehabilitation specialist fitted the Snug Seat I perfectly for DJ.

November 15: DJ and Madison welcomed their first cousin (James) into the world!

December 2001

(57 months)

DJ had a respiratory infection, his second sinus infection of the year. We were particularly concerned with DJ's breathing difficulties during the peak of his illness, so we brought an oxygen tank into the house. Fortunately, he only needed it briefly.
January 2002

(58 months)

DJ adjusted remarkably well to life with his sister, Madison. They shared a special relationship. They were rarely more than a few feet apart from each other at home. Madison liked to nap against DJ and she would warm up his cold hands and feet. When she met a new person, she always held onto DJ for reassurance. Madison often sat next to DJ with his arm draped loosely around her, while we read a book or sang a song. See Madison and DJ together in the photo album.
February 2002

(59 months)

As we approach DJ's fifth birthday, we reflected on some of the changes we witnessed in DJ this past year. DJ overall enjoyed relatively good health. He occasionally had a sinus infection or upper respiratory illness, but no pneumonia. DJ received his meals and medications through a NG tube for the last 16 months, which we changed ourselves at home every month. He took three medications daily for symptoms of the disease: Diamox (acetazolamide) to reduce the pressure on his brain, robinul (glycopyrrolate) to control excess secretions, and ativan (lorazepam) to help him sleep at night.

DJ retained some range of movement - he liked to turn his own head, yawn and stretch his whole body. We have been exercising his wrists and feet more as they tended to drop down. We also have been more careful about checking for pressure sores, particularly on his hip because he sleeps on his side at night.

March 2002

(60 Months)

We celebrated DJ's fifth birthday on March 12! We decided to have a big party for him! Sixty friends, hospice people, and co-workers braved the snowy winter weather and joined us at Maggiano's Little Italy Restaurant for a lunch banquet. This was a very special event because it was the first time we had both sets of grandparents, all of our siblings and their spouses, and DJ's cousin, James, together for a birthday. See our photos of the fifth birthday party in the photo album.
April 2002

(61 months)

Davis attended the Summit of the Allied Diseases on April 25. The purpose of the Summit was to discuss ongoing research into lysosomal storage diseases and leukodystrophies.

We attended our fourth NTSAD Family Conference from April 25-28. The family conference was held in White Plains, New York. We grieved deeply for DJ's friends whom we lost to Tay-Sachs over the past year: Vincey Cassady, Adam Davis, Shawn Drozd, Emily Jones, Cameron Lord, Shannon O'Lear, Emma Spaniol, RJ Suarez, and Emily Wells.

May 2002

(62 months)

DJ had a nasty respiratory infection this month. He had a tremendous amount of thick mucous, so we gave him saline treatments through the nebulizer to break it up. Then we used the nasal aspirator to suction his nose. He recovered after about 2 weeks.

May 12: We realized that four years have passed since we were told that DJ had a rare disease and would not survive past childhood. At that time, we needed a way to make sense of what was happening to us. DJ's homepage started out as a simple way for our out-of-town family members and friends to keep in touch with us. Then the page became a way of documenting changes for our doctors. As we met other families, it was a way for us to "tell our story." DJ's homepage has grown along with us and now we are moving to our own domain on May 20th! We really appreciate all the nice comments and feedback we receive from those who visit our web site. Thank you for sharing this journey wth us.

June 2002 (63 months)

A busy month for DJ ... including Madison's first birthday, both parents' birthdays, Uncle Ben's wedding, and the Yang family reunion.

DJ took Madison to Brookfield Zoo to celebrate her first birthday. More pictures can be found in the photo album.

July 2002 (64 months) DJ had increasing difficulty handling excess secretions. We increased the amount of Robinul (glycopyrrolate) he takes daily to 1mg every 6 hours, or 4 times daily.

DJ also battled another nasty sinus infection midway through the month. Once again, he had a tremendous amount of thick mucous, so we gave him saline treatments through the nebulizer to break it up. Then we used the nasal aspirator to suction his nose.

August 2002 (65 months) We have noted certain changes in DJ's seizure activities. He no longer cried out or made any noises when he had a seizure. The tonic-clonic jerks are almost completely gone. Instead, he tended to pull very strongly to one side and hold this position for a minute or two. DJ now received two doses of Ativan (lorazepam) daily, a 0.5 MG tablet with his breakfast at 10 AM and another 0.5 MG tablet before bedtime at 10 PM.
September 2002

(66 months)

DJ turned 5 1/2 years old on September 12! See recent photos of DJ in the photo album.

October 2002

(67 months)

November 2002

(68 months)

DJ had a respiratory infection in the middle of the month. He also seemed to have a recurring sinusitis, we had to put him back on antibiotics.
December 2002

(69 months)

We had a traumatic event one December evening when DJ aspirated and his breathing and heart stopped just before 8 PM. After a few moments of debating whether or not to let him go, Davis (who was alone with him at the time) started CPR and managed to resuscitate him. After an hour or so on oxygen, DJ's respiratory rate slowly increased. After a few days, he went pretty much back to normal - his coloring looked good, he went back to taking 3 cans of pediasure, etc. We call this event "DJ's dry run."
January 2003

(70 Months)

We have noticed one major change in DJ since his dry run - instead of being completely hypotonic, he now has a problem stiffness and with contractures. It can be difficult to separate his knees or bring his hands away from his chest. He also seems to have problem with his shoulders - his shoulder blades rise when we lift his arms up to change his shirt.

We met with his physical therapist, Mary Lou, at the beginning of the month. She came to our house and worked out some new positions for him, particularly to open up his chest and make it easier for him to breathe. She also suggested a few very gentle, range of motion exercises for his feet and hands. We noted that the new positioning has helped considerably to loosen him up by the end of the month.

February 2003

(71 Months)

DJ's reflux is causing him so discomfort; we noticed some acidic burps. We have returned to taking Zantac (ranitidine) daily.
March 2003

(72 Months)

"Outside the open window
The morning air is all awash
with angels."
- Richard Wilbur

It is with great sorrow that we write that DJ died Sunday afternoon, March 9, 2003. Like with so much of his life, he left with a sudden, quiet grace, feeling our arms around him and hearing our voices telling him how much he was beloved by us. We let him go with the warm sun shining on his face, and entrusted him to his Tay-Sachs friends.

We always measured DJ's life in months instead of years. To us, he lived fully and was loved deeply for 72 months. He would have been six years old on Wednesday, March 12, and we truly are grateful for each and every day we were able to be a family together.

We thank those of you who have followed DJ and our journey through this web site. We are grateful for your kind words and sympathy during this difficult time. Thank you again for acknowledging the gifts he brought to us and for recognizing his special life.

With warm regards,
Davis Yang and Akari Yamada

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Last update Tue, Jan 27, 2004