Rare disease left these children bedridden and unable to eat normally
"All my 3 children were normal at birth and developed normally from birth, to about 5-7 years old. In fact all were very intelligent and learnt to read at the age of 3..."
"All my 3 children were normal at birth and developed normally from birth, to about 5-7 years old. In fact all were very intelligent and learnt to read at the age of 3", says Singapore dad David Lang.
Sadly, things started changing when they were around 5 to 7 years old.
Today, his second child has passed away. The other two children are bedridden, tube-fed, breathe through tracheotomy tubes, need lung suctioning round the clock, and have to be put on ventilators when they sleep.
They suffer from an extremely rare, inherited metabolic disorder called Niemann-Pick Disease Type C.
How it started...
Together with his wife, Madam Seow Loo Geok, David continues on in this challenging journey of caring for them 24/7, shuttling between tests, check-ups, hospital admissions and the ICU regularly.
David was recently presented with the SCCL Extraordinaire Caregiver Award for going far beyond the care of duty to give love, respect and devotion to his family members.
He tells theAsianparent about their children, "Justina was born in 1991, Timothy, in 1993 (died in July 2004), and Titus, in 1996."
The family was in the U.S when Justina first started showing symptoms of the disease.
"The kindergarten teacher said that my daughter was not following instructions and frequently going out of the class. Around the same time we noticed that she began to be afraid of others."
"She also had short bouts where she would freeze stare blankly for a few seconds- this we found out later is absence seizures."
"Thinking that it was probably due to stress and not being able to adjust to the school environment in USA, I decided to bring my family back to Singapore."
Things however, did not get better.
David continues, "When she came back and started school at St. Margaret’s Primary School, her degeneration accelerated. She started having sudden drop attacks (atonic seizure) and frequently injured herself."
"Justina also declined cognitively and did not seem to respond well in class and talked very little. She was taken out of school on the instruction of a psychiatrist at MOE’s Institute of Mental Health. She later got a place at the Spastic School."
The disease progressed rapidly.
"She started having more seizures- gelastic seizure, grand-mal seizures etc. Then, she lost her ability to talk, sing, swallow and even to swallow her own saliva. She had to be fed through the NG tube."
"She also lost her ability to stand and walk and needed the wheelchair before 9 years old. Even when on wheelchair, she developed scoliosis- it got so bad that the degree of curve was over 90 degrees. Her lungs were affected."
By the age of 12, Justina needed a tracheostomy to help in breathing.
Other children started showing symptoms too...
Timothy started showing similar symptoms when he turned 7. There was a decline in cognitive and physical abilities and frequent seizures as well. He also showed difficulty in swallowing food.
He died in 2004, after slipping into coma following choking and seizure. When Timothy was in coma, doctors took tissue from him and sent to the U.S for examination. It was then that the disease was diagnosed.
David tells us, "The result of the test was that Timothy had Niemann-Pick Disease Type C (NPC). NPC is a very rare autosomal recessive disease. This disease affects the body’s ability to metabolise lipids and cholesterols."
"As a result, it causes cell death in the brain, liver and other organs."
It is also an extremely rare disorder. So rare that, "before Timothy's diagnosis, the neurologists in Singapore did not know the precise illness my children had."
"At the time Timothy’s test results were out -there were only about 400 known cases in the world. I read in the internet somewhere that today there are about 500-600 known cases who are alive."
"Our children were probably the first known case here in Singapore."
Niemann-Pick disease type C in children
After Timothy's diagnosis was confirmed, doctors examined Titus, and confirmed that he was affected too.
David recalls, "Eventually Titus followed the degeneration path that Justina went through. Lost his ability to eat, drink or even swallow his saliva."
"He also lost his ability to walk, stand, or even sit without support. But because he started treatment for his seizure and was given physiotherapy early, he was mobile a little longer. And unlike his sister who could not even control her hand, head or eye, he could still move his hand a little and turn his head a little."
"The loss in functions was gradual. But even then, by 12 -14, our children reached the point of being bedridden, tube fed, requiring ventilator when they slept..."
"They get more and more prone to infection, Eyesight seems to be degenerating. Hearing could be getting worse. But these could be due to the degeneration in the brain."
An inherited metabolic disorder
We ask David more about Niemann Pick disease type C in children. What is the cause of this disorder?
David informs us, "This is an autosomal recessive disorder, this means both parents’ genes must have mutated or both parents must be carriers of the disorder. If only one parent is the carrier of the defective NPC gene, the children will not be affected."
"If both parents are carriers of the gene, there is a 1 in 4 chance that the children will get the NPC disease. For all children to be have the disease is extremely rare."
"Even for those affected by the disease, their rate of degeneration differs. The prognosis of the disease can be related to when the symptoms appear. Those appearing at birth usually die within a few years."
"Those whose symptoms appear between 5-7, like that of our children, typically die between 15-19. Those whose symptoms appear in adults can live much longer."
Treatment is very expensive
The family lives frugally, because medication and equipment are expensive.
David reveals, "There are the medical expandables like tracheostomy tube, suction catheters, gastrostomy tubes, gauze, gloves, diapers which can add up to almost thousands. The feeding gastrostomy button itself can cost $500."
"That apart, the day-to-day care itself is very costly. Employing and maintaining 2 caregivers amount to over $2000 a month. Then, electrical bills can be about $400 per month because we have to run 2 ventilators, 2 suction machines, one five liter and another 10 liter oxygen concentrator in emergency, feeding pumps, pulse oximeters, nebulizer, electric patient hoist and electric hospital beds."
"The cost to buy and maintain these machines can also add substantially. Thankfully, we have some support from our family members and also church friends."
"Still we have to live very frugally, with a salary of under $5000, and our monthly expenses going from $7,000-10,000 and sometimes even more."
Caring for their children...
With the children requiring full-time care and attention, we wonder how this mommy and daddy manage to cope...
David tells us, "I am still working at Singapore Bible College as a full time lecturer. But outside my class time, faculty meetings and meeting of students and alumni, I am allowed some flexibility so that I can tend to my children in emergency and when they are in the ICU."
"I also help bring my children for various medical appointments (Neuro, ENT, Eye, Skin, etc) and when the medical equipments need maintenance, I try to fix them or send for repair or scout for alternatives."
The couple try to have as much family time as possible.
"After my work, my wife and I try to bring our children on their special tilt wheelchair to the garden of our HDB block. On weekends we try to take them on short outings- like to Harbour Front, Marina Bay, Gardens by the Bay or even Changi Airport."
"My wife does not work and helps tend to the needs of the home and the children."
"We employ 2 trained Filipina maids to help cook and do household chores and also provide round-the-clock care for our children. They tend to our children's needs during day time."
"Because our caregivers need to care for our children during the day, we recognize that they need enough sleep at night. So we take care of Titus at night in our bedroom."
"Our son is more difficult to take care at night as he frequently pulls out the ventilator tubing when he coughs, and we need to suction him and put it back."
"Also because he sleeps beside us we can sense it when he is getting seizures. Usually it is my wife who has to wake up in the night as I need to teach the next mornings."
"Our daughter is generally easier to take care at night. The two helpers take turns to wake up to change her position and tend to her when the alarm goes off- indicating she needs suctioning."
Advice for other parents
We can't imagine what David and his wife are going through, as 24/7 caregivers and dealing with the loss of a child...
We ask him what advice he has for other parents. This is what he has to say:
"Let us view our children as God’s trust and gift to us. As God’s trust and gift to us, taking care of them is indeed meaningful and rewarding."
"There is much we have learnt from our children: their courage and strength to fight on amidst all odds and their finding joy in simple things like being in the presence of people who love them."
David is also grateful for the help he receives from the community, and from God.
Lastly, he says, "Learn to take one day at a time. We make plans and hold them tentatively. In crisis situations, learn to expect nothing, and anything else you get can be seen as a bonus and cause for rejoicing."
We love to complain and worry about our children. Reading this story and these words from David though, might change our perspective of life and love.
"While other parents find their joy in children passing exams and getting a college degree, when our children give us a smile, it can bring us much joy."
Republished with permission from: theAsianParent Singapore