The rare disease “Rett Syndrome” is caused by mutations in the congenital gene MECP2.  It is a neurological disease that seriously affects children’s psychomotor development.  It cannot be prevented and there is no effective treatment.

Ka Yan:  I remember that you were born fat, so cute, and so healthy... Suddenly one day, everything was changed up-side-down.  Doctor said that you have Rett Syndrome and you will degenerate gradually, and eventually you will not know how to call mom...

Over twenty years, mom did not ask for more.  Mom would only want you to eat properly, take a shower, and then go to bed.  But, these are not easy and out of reach.  However, no matter how hard and how difficult it is to take care of you, how tired it is, I am willing to continue to do so, because you are my favorite daughter that I love most...

Mother loves you

I looked at my mother but called my brother

“Around 2 and a half to 3 years old, Ka Yan suddenly lost her speech.  What she used to say, she totally forgot.  She call mom as brother and sister.  It seemed like a mess.”  Besides of losing her speech capability, her mobility also gradually disappeared.  She constantly rubbed her hands... We consult with doctor, have all kind of gene tests, blood tests.  It took totally two full years before she was finally diagnosed suffering from Rett Syndrome.  “I am lost and confused.  I have no knowledge on such a disease.  Is there any medicine to cure such disease?  Could this be cured?  There are lots of unknown.  It is so helpless.”

“Why me?  There is only one case among twelve thousand people and I have it.”  It’s disappointed and overwhelming.  The family was like towards a dead end.  My mother recalled how helpless it was at the time.  “If there are any possible ways even it costs $3,000 for a treatment, I will still buy it for her.  Until we know that there is no medicine to cure this disease, we eventually did not bother to look for ways for treatment.”

Mom and dad keep watching overnight

Day after day, Ka Yan’s condition has not made progress, but degeneration has become more and more obvious, such as hunchback, scoliosis, and flat feet.  “Ka Yan walks really slow these days.  Sometimes it is really difficult to hold her walking slowly.  If we need to commute in a long way, we use her wheelchair.”  She keps rubbing her hands and can’t sit still.  Ka Yan also needs to feed three meals a day.  Mom even needs to raise her foot to press Ka Yan's thighs while feeding so as to avoid her uninterrupted standing.

“My husband and I have to work overnight!”  One of the symptoms of Rett Syndrome is that it only requires a nap time, the kindness of the "unwanted" sleep, Ka Yan will fool around, eg. “I want to pee!” “I want to go to the toilet!” “I want to...”  Dad and mom have to take shifts to take care of her.  “Each of us take a few hours sleep and take turn to keep an eye on Ka Yan as sometimes she will go to the toilet to play with water.”

20 seconds slower to receive instructions

Others felt very tired even just by watching their life.  Dad and mom are of course exhausted.  During interview, Ka Yan would often rush to the editor and recite some words or sentences.  She actually only tried to respond to the editor’s question about “the situation has changed.”  Mom is accustomed to these response: “If you ask her to drink water, she ignored you.  But she will walk over 20 seconds later.  It is because there is a 20 seconds delay on her response to instructions.  She is then now received your instruction asking her to drink water.”

The biggest powerlessness challenge is her “quicksand” type of learning ability.  “After you teach her, she will forget it.  If you teach her again, she will remember and do it.  Then she will not remember it again.  It happens so repetitively.  Psychologically difficult and hurt much.  It’s sad to see the progress and regress again!”

It's bitter but I will keep going!  Mother was worrying about certain situation but luckily that did not happen.  “If I give birth to a second child, will there be any problems (ie. Have the same disease)?  But I see that other families have no similar problems with their second child.  It should not be hereditary.  Without much thought, just try again.”  Eight years ago, little sister On Kei was born safely but there was another situation happened.

Outburst of anger - mother and daughter fight against each other

“When having little sister during pregnancy, it’s very hard.  We need to take care of Ka Yan at all time.  Basically has no energy to take care of her.”  But what was the worst was Ka Yan felt that mommy has been taken away by her little sister, and the jealousy hidden in her deepen heart was on the verge of her anger.  “As soon as she sees the younger sister, she will hit her.  She will hit her whenever they come across.  She once tried to hit her younger sister so hard that the little sister was thrown into the bathroom!”

Envy and adolescence, Ka Yan showed all kinds of uncooperativeness.  “Don’t go back home.  Want to leave when she reaches home.  Tried to drag her in.  She will lose her temper and beat us, beat her younger sister.  Did not go to bed.  Did not eat even you feed her.  Help her to do some exercises and she refused to do so.”  Mommy couldn’t help but erupt, “At that time, I felt that I had taken good care of her.  Why she behaved in such a way?  We fight against each other.  I hit her.  She beated me.”  Eventually, a social worker warned Helen if Helen hit Ka Yan again he will call the police.  At that time, we found that Ka Yan has violent tendency and she has arranged to stay in the dormitory.

Feel loved – that breaks the cocoon and untie the knot

After Helen calmed down, she realized she must lower herself in order to untie the knot in Ka Yan’s heart.  “Change my own mentality, change the way we get along with her.  Show her more love, more hug, more accommodating, sometimes deliberately, just hug her as we see her.  Slowly, Ka Yan feels again we love her.  Sometimes we deliberately get along with her alone to let her feel that mommy is belonging to her.”

Mother sees through that her daughter is actually unable to express her inner discomfort.  “Rett Syndrome seems like a cocoon being bound inside.  It’s very hard and difficult if the situation could not be released.  We don’t understand her.  That’s why she feels very hard and difficult and it is the same for us.”  Mother holds tight with Ka Yan and deconstruct the difficulties of Rett Syndrome without sullenness.

After Helen and Ka Yan fixed the relationship, Ka Yan also let go of her hostility towards her younger sister.  She didn't hit her sister again but care more.  “Shi On Kei, go to school yet?”  She always said this.  Helen also strives for the opportunity to solely get along with Ka Yan.  Although she was suffering from breast cancer three years ago, she still insisted on cooking by herself for her daughter who returned home from the dormitory.

Establish an association to help fellow patients

Helen recalled the early stage of Ka Yan’s illness.  Helen didn't take Ka Yan out to meet with relatives and friends for two / three years just to avoid questions that she didn't even know the answers.  “why didn’t know how to write?  Don’t even know how to eat?  What you have been doing/how you take care of her? … Even some relatives said: “the mad woman is coming!” I was so unhappy at that time.  But there was no way because Ka Yan doesn’t know how to communicate with other people.”

“We already accepted all these facts after more than 20 plus years.”  As a person who came by, Helen understood that the parents of children with Rett Syndrome would always feel isolated, helpless and hopeless.  So, Helen participated and established the Hong Kong Rett Syndrome Association.  She hopes members could exchange their experiences and help each other.  “New parents have a lot of questions.  We can share our experience with them and hope this could help them learn and go through this process more smoothly, because accepting, facing, and resolving, all require a process.”

Looking forward to legislation to help patients with rare diseases

Helen said frankly that Rett Syndrome is temporarily incurable.  Although foreign countries are developing drugs to treat Rett Syndrome and are about to enter the third phase of trials.  But, “the medicine is very expensive.  It may cost about 2 million a year.  How could a grassroot family afford it.”

Therefore, Helen hopes that the government can define and legislate on rare diseases so that patients with rare diseases can receive proper medical assistance.  “If Rett Syndrome drugs are introduced in the future, I hope the government can approve them for all the patients.”

Music therapy to relieve the condition

Drugs for the treatment of Rett Syndrome is not developed/available.  Patients can only rely on other drugs to relieve and control the condition.  “If there is any cramps, patients can take cramp medicine.  If patients have breathing difficulties, they can take respiratory relief medicine.  If patients can’t sleep, they can take sleeping pills.  If they are in bad mood or hit someone, they will just take psychiatric drugs.”

Besides of these kind of short term treatment, Helen said that different rehabilitation treatments, such as physical therapy, speech therapy or music therapy, could be used to maintain the patient’s mobility and slow down the deterioration.  “(Ka Yan) heard the music would help her soothing, and if I ask you to cooperate with exercises and meals, it works.  If there is no music, I can't get her to do it!”  However, each session of rehabilitation treatment costs about $700.  Helen hopes that the public could learn more about Rett Syndrome.  Through fundraising, we could help some patients with Rett Syndrome to cope with the cost of intensive rehabilitation training.  “Keep their physical mobility and keep it from deteriorating.  The worse it is, the more difficult it will be for us to take care of them.  If they can sit and walk on their own, it would be much easier for us to take care of them.”

Hope to set up a home and help each other

According to the study, the average life expectancy of Rett Syndrome's patients is around 20 to 30 years old, but there are also cases of living up to 50 years old who are still alive.  Helen did not deny that the most worrying thing is the parents are getting old and passing away while their children are lack of care and no one take care of them.  Helen hopes that a Rett Syndrome’s home could be setup for the patients in the long run.  “Our children are all severely disabled and mentally handicapped.  If there are homes special for Rett Syndrome and could be managed by parents and siblings with relevant experience and all helpers are within the same circle who know well of their symptoms and behaviours, it would be much easier for taking care of them and parents would be with much ease of mind.”

The road to recovery for patients with Rett Syndrome is really long and full of uncertainties... Are you willing to lend your helping hands and help them by making some contributions?

Understanding rare diseases: What is Rett Syndrome?

The rare disease "Rett Syndrome" is caused by mutations in the congenital gene MECP2.  It is a neurological disease that seriously affects children’s psychomotor development.  It cannot be prevented and there is no effective treatment.  The incidence of Rett Syndrome is 1 in 10,000 to 1 in 12,000, and it commonly occurs in girls.  The sick child develops normally in the first 6 to 18 months after birth, but then quickly degenerates and develops slowly, such as mental decline, loss of language and physical motor skills, movement control disorders, autistic behavior, cerebral palsy, and even limb atrophy and deformation, etc.

The main symptoms: constantly rubbing hands, loss of language ability, epilepsy, dysplasia, scoliosis, constipation, sleep disturbance, and inability to take care of yourself.