Loose links

[Guest guest]

http://thestar.com.my/lifestyle/story.asp?file=/2004/5/12/features/7807580&s

ec=features

Marfan syndrome is a rare genetic disorder in which the connective tissues

in the heart, lungs, eyes, blood vessels and skeletal system, among others,

stretch and weaken, giving rise to a host of problems. There is no cure but

careful medical management can greatly improve the patient's quality of

life. A mother shares with CATHERINE SIOW the story of caring for her

daughter who has the syndrome. ...

³From the time Michele was born in 1980 till her latest leg injury in

September last year, I¹ve always attributed all her little accidents and

clumsiness to her learning disability. I¹ve never questioned that these

mishaps could be a result of her awkward physical stature, especially her

unusually long limbs and hunched body.  

³Whenever she had a fall or tripped over something, I would accept it

resignedly, telling myself: ŒShe¹s a slow learner. She can¹t help being

accident-prone.¹  

³I held on to this line of reasoning until recently when Michele had a fall

while at work and dislocated her right knee.  

³At the hospital emergency ward, Michele¹s leg was put in a cast and she was

given a full check-up. The attending doctor then told me that Michele had

all the classic signs and symptoms of Marfan syndrome ­ a genetic disorder

characterised by very loose and injury-prone joints. That¹s when all the odd

incidents during her childhood and her unusual physical development started

to fall into place. 

³Michele had always been a tall, lanky kid and stood out among her peers.

Even now, she stands at 5¹ 7² (1.7m) though she doesn¹t look it because of

her hunched back. As far as I could recall, I had a normal pregnancy. I took

all the necessary precautions a mother-to-be would and ate the best foods.  

³The only unusual thing I remember was my abnormally long morning sickness.

I had nausea all day long throughout my nine months of pregnancy but my

gynae said it was normal for some expectant mothers to have protracted

morning sickness. 

³In my sixth month of pregnancy, I had a fall. As usual, after a meal, I was

rushing to the bathroom to throw up but this time I slipped and fell. I was

admitted to hospital. The scan showed that there was no internal bleeding

and my gynae said the foetus was fine. ...

³Michele was born on the day of my last check-up before the due date. My

water bag hadn¹t burst yet and I didn¹t feel any contractions or pain but my

gynae said the baby was ready to be born. I was given a pill to induce birth

and I remember taking a book into the labour room to read. After nine months

of constantly throwing up food, I recall thinking at the time that giving

birth was certainly more Œfun¹ and relaxing than the pregnancy itself.  

³Two hours later, came into this world. It was a normal delivery

though forceps were used. She weighed in at 3.2kg and measured 48cm in

length. Michele was a beautiful baby and I was filled with pride and joy

when I held her in my arms for the first time.  

³For the first three months, I breastfed her. I also gently massaged her

slightly Œlongish¹ head ­ which I attributed to the forceps ­ to help it get

into normal shape. Her development was quite slow, though. She only started

to stand on her own and walk at age three but the paediatrician said it was

normal for some kids to start late. She was slow to turn and she never

crawled. She would move from one point to another Œsitting¹ style by using

her buttocks.  

³From young, Michele was a sickly and very thin child. After an episode of

high fever at age two, she developed wheezing attacks and I had to take her

to the doctor for medication every month. ...

³When she entered Year One, her learning disability was discovered during

the initial screening for children with learning difficulties. I took her to

hospital for diagnosis and it was confirmed that she had a learning

difficulty. Michele attended normal school but was placed in special classes

until age 18. Following the diagnosis, she also needed glasses for her mild

short-sightedness, but she only wears them occasionally. 

³When Michele was 19, I sent her to Perkobp (Society of Families of Persons

with Learning Difficul-ties) Employment Training Centre, where she learns

daily living skills, discipline and proper manners. After two years of

training, Michele was absorbed into its employment programme and she has

been gainfully employed as a casual worker doing simple packaging work at a

confectionery factory nearby.  

³Though she has been accident-prone from young, Michele did not suffer any

serious injuries until her first nasty fall when she was 15. Her left knee

was dislocated and put in a cast for six months. I thought it was her

learning disability which made her clumsy and accident-prone. Only after her

recent fall and the mention of Marfan syndrome did I begin to think

otherwise and start to learn about the disease and seek appropriate

treatment.  

³Now I can understand why she was an unusually long baby and developed into

a gangly child. I can also understand her eye problems and her awkward

speech which could be caused by her high palate and thus, crowded teeth ­

all classic signs of Marfan which the doctor pointed out to me. The mystery

of the little depression on her chest (as seen in a baby photo) is solved as

I¹m told that Marfan persons could have a caved-in breastbone because of the

loose connective tissues.  

³I still learning about Marfan syndrome and the proper management of the

disease. There seem to be so many related problems arising from it and so

many tests to go for. and I are taking it one step at a time as we

learn to deal with this newfound disorder of hers.  

³In the meantime, I make sure wears knee guards when she goes to

work and help her overcome her fear of escalators, a phobia she developed

after the recent fall.²