Angelmum

Moderator
Zaobao, 2013年11月21日

当孩子不幸患上罕见疾病如儿童眼癌、神经母细胞瘤,为人父母者若能及早发现问题而给予治疗,将能提高孩子如常生活的概率。

兼职教师胡碧心(32岁)育有三个儿子,分别为2岁、4岁和6岁。老幺是早产儿,34个星期出世(比足月生的婴孩提早六个星期左右),不过一切都正常,无并发症。
这个宝宝五个月大时,她跟他玩乐时发现,孩子在阳光照射下,其右眼的黑瞳孔里有小片像玻璃一样透明的白色膜,只有透过阳光才看得到,她还觉得孩子挺特别的。同天傍晚,她帮孩子换尿布时,在日光灯(fluorescent light)映照下,也同样能看到孩子右瞳孔里的“玻璃片”。这时,她开始不安。

她说:“我马上给孩子做实验,喂奶时把他的右眼盖住,他的左眼能跟我交流,也会微笑。但当我盖住他的左眼时,他的右眼似乎找不到焦点,也无法跟我互动。我知道孩子有事了!我赶快上网查资料,发现一种儿童罕见的眼癌跟孩子的症状很相似。”

证实孩子患上双眼癌
胡碧心和丈夫带孩子看儿科医生,对方转介他们到眼科专科医生,经过检测后,证实她的孩子患上双眼癌(Bilateral Retinoblastoma)。她说:“当时,感觉整个世界都塌了下来。医生说,孩子必须做磁共振成像(MRI)扫描,以确定病情。”

医生为宝宝做化疗,缩小肿瘤,每个月一次,共做了五次,从2011年6月至11月。宝宝的右眼视力证实已完全受损,幸好左眼受损情况轻微,目前病情受到控制。他们希望保留孩子的右眼,无须动眼球摘除手术。但是,癌细胞却在2012年3月复发,最后只好动手术切除右眼球,植入假眼球。

她说:“孩子的眼睛特别大,植入假眼球后,外表给人好像有‘懒惰眼’的样子,经常有路人都告诉我要注意孩子的视力。假眼球里装上一片塑胶片,可像隐形眼镜一样除下清洗。大概每三个月清洗一次。” 胡碧心说,儿童眼癌对她而言是完全陌生的疾病,惊讶之余,也不晓得哭过多少回。她上网找寻支援,跟外国病患的父母交换意见。胡碧心说:“儿童眼癌只存在儿童期,通常过了5岁或之后一般不会再复发。我的孩子快3岁了,希望接下来两年都健康。”

老二曾患罕见腹部肿瘤
说到这里,她向记者透露,老二在六个月大时,也曾诊断患上罕见的腹部肿瘤,她问老天为什么这么折磨她?这时,她哽咽,许久才平复。她说,这个孩子的癌症同样罕见,1000万人中,只有一个病例。从6个月至15个月大,癌肿瘤复发三次,年幼可爱的孩子必须经历三次手术。现在,老二已度过约三年的“安全期”,希望不会再复发。
儿童眼癌,这类病例本地属罕见,仍无数据可考。根据美国医学界的调查显示,每100万个新生儿中,约有11.8宗这类儿童眼癌病例,其中双眼癌占40%。

儿童眼癌是人类第一种癌症
国大医院眼科外科部门眼部整形术(Oculoplastic service)主任及高级顾问医生干伽哈拉苏达(Gangadhara Sudar)受访时指出,儿童眼癌可说是儿童常见的癌症,不单影响患者视力,甚至可能危及生命,如果不治疗,致命率几乎高达100%。不过,及早有效治疗的话,生存率则达95%或以上。
他说:“即便患者必须切除一只眼睛以保命,只要另一只眼睛小心保护,经常检测,尤其是前五年至十年,一般都能过正常的生活。”接受化疗或激光等治疗后,患者必须定期每六至八个星期复诊,一直到癌症受控与治愈为止。

他指出,即使治愈后,患者在5岁前,仍必须接受紧密的观察与检测;之后,每年做一次检测,至10岁为止。“那些双眼癌或单眼癌患童,存在基因突变,将来可能产生骨肉瘤(Osteosarcoma)或白血病(Leukemia)等癌症,终生须要让儿科或肿瘤科医生检测或治疗。另外,患者也可能将基因传给下一代。


他说:“儿童眼癌可说是人类第一种癌症,由特定基因突变而产生,通常源自生父或生母。这类癌症多发生在1岁前的婴孩,除了双眼的肿瘤外,也曾发生罕见的第三个脑肿瘤或松果体瘤(Pinealoblastoma)。两三岁的孩子,眼癌一般以单眼为多,给予妥善治疗,往后生活跟其他儿童一样正常。

发现白瞳征应立刻求治
像上述胡碧心孩子的病例,苏达医生认为这是父母凭敏感的心,及早看出孩子视力出现问题而给予治疗,因此保存病儿的视力或生命的概率更高。他说,那些无眼癌病史的家庭,一旦发现孩子的瞳孔出现白瞳征(Leucocoria),应立刻寻求治疗。家族患有眼癌病史(父母、祖父母、叔伯姨姑等等)的孕妇,胎儿在子宫里就应开始做超声波检测,出世后继续跟进检测,至孩子长大至四五岁。

患有眼癌的病童和其父母可通过基因检测,确保将来的孩子尽早检测出是否患有眼癌的概率。苏达医生说:“通过这样的检测,我们曾帮助孩童及早发现眼癌症状,给予激光治疗后,现在已上学,视力良好,生活如常。”

动了眼癌手术后,患者会面对什么并发症?
苏达医生指出,及时治疗为关键,在眼癌未转移至其他部位前(另一只眼睛属正常或已给予治疗),外科医生为患者进行眼球摘除术后,将永久性人工眼球植入眼窝(eye socket),孩子外貌都比较正常。如果手术不当,肿瘤将转移至眼球以外的部位,最终可能面对死亡。同样的,如果癌细胞已转移至其他部位如脑部,动手术后也无法治愈眼癌。

装上假眼球可减少心理创伤
装上假眼球的目的,是让患者拥有正常的外表,减少社交的负面印象与心理创伤,保持活跃,过常人生活。苏达医生提醒说:“即使动了眼球摘除术后,癌细胞已受控制或治愈,但是如果在患者年幼时没有给予适当的复健,其眼窝和脸孔可能导致永久性的毁容或畸形,之后想恢复原貌将非常困难。”

单眼癌(Unilateral Retinoblastoma)病儿经过适当治疗后,可恢复生活。双眼癌患者则得看其视网膜的受损程度,如果只是主管中心视力的黄斑部(macula)受破坏,其外围视野仍保存良好,只须借助视力辅助器,患者可自由行动。

儿童眼癌可说是一种无法预防的癌症,因此及早发现是治愈关键,这得靠父母、儿科医生、家庭医生、婴孩看护者等的敏锐观察力。一旦发现不妥,将孩子转介给儿科眼科或眼部肿瘤专科医生确定病况。根据国大医院2009年的数据显示,儿童眼癌的年龄中位数(median age)为1.6岁。国大医院曾治疗过最年幼的病儿只有三四个月大。

其他儿童罕见疾病
■ 神经母细胞瘤
国大医院小儿血液病与肿瘤科医生Mariflor Villegas指出,神经母细胞瘤(Neuroblastoma)也是儿童罕见癌症,是脑瘤后的第二常见实体瘤(solid tumour),约占儿童癌症的8%至10%。
美国每年约有800个这类神经母细胞瘤新病例,每7000个新生儿,约有1人患此癌。若不及早治疗,病患在三至六个月后可能丧命。第一期病患有高达90%生存率,末期患童的生存率只有五分之一。

治疗方面,第二期可采用化疗,第三期和末期则以电疗为主。她说,末期患儿较难治疗,必须结合高效化疗、自身细胞移植、肿瘤植入抗体和电疗等等。
神经母细胞瘤症状:多发生在腹腔部位,父母会看到孩子的腹部肿胀,而且在腹部侧边触摸得到肿块。

Mariflor Villegas医生说:“通常,父母跟孩子洗澡时,多数会发现腹部的肿块而找医生确诊。”其他可能出现肿瘤的部位包括脊椎旁边,导致双臂或双腿无力。肿瘤也可能出现在胸腔部位,造成呼吸困难。医生通过超声波扫描或断层扫描(胸腔),或磁共振成像扫描(脊椎),或是通过尿液检测是否含有香草基扁桃酸(Vanillylmandelic acid),以确定孩童是否患有神经母细胞瘤。


此类癌症非基因或遗传因素所致,多属散发性(sporodic)或偶发性。

■ 卡恩斯塞尔综合征
每1万个孩童中,一人可能患上卡恩斯塞尔综合征(Kearns-Sayre Syndrome,简称KSS)。这是人体细胞脱氧核糖核酸线粒体(Human Mitochondrial DNA)失调所导致的疾病。
国大医院小儿神经科主任及高级顾问医生郑洁芳副教授说,这类神经肌肉失调症属于散发性,一般上,患者体内血液的乳酸(Lactic acid)较高,而且涉及的活动器官较多,例如大脑、肾脏、肌肉等等。

这类疾病是否致命?郑医生指出,这视乎病情而定,一般上,患上婴儿乳酸性酸中毒(Infantile lactic acidosis)者,前几年的生存率很低。
治疗方面,医生通过维生素和辅助治疗如增加人体细胞线粒体的功能与活跃性,提高患者抗病力。另一方面,必须预防患者的生理压力,因为突发性的压力,器官的能量需求提高,将导致患者代谢紊乱或能量衰竭。

■ 一型神经纤维瘤病
国大医院小儿遗传与代谢部门吴丽明副教授指出,罕见的遗传性疾病——一型神经纤维瘤病(Neurofibromatosis Type 1,简称NF-1),会影响孩童发育。疾病特征为皮肤色素沉着斑(类似胎斑)和多发性神经纤维瘤。

如果父母得病,孩子遗传自父母的概率占50%。医生可通过基因测试,确定是否有遗传因子。
每2500人中,一人患上NF-1神经纤维瘤病。通常,患者可成长至成人阶段,可结婚生子。不过,此病的并发症概率很高。
 

alittlefaith

New Member
I’m back after being away for the last few months. Been busy accompanying my boy for his PT, CT and ST sessions. From Oct till now, many things have changed. We finally received the answers we were seeking for. So here I am, providing a little update.


Our boy subsequently underwent numerous tests and cleared each and every one. Until one day, the neuro-specialist asked to see us at the hospital pertaining his test result for the genetic tests. Yep, we did not leave the hospital with smiles on our faces. He was tested positive for Type 1 Spinal Muscular Atrophy, the most severe case for SMA. Our little boy will never sit/walk or meet any other milestones in his life. He is, in doctor’s opinion, at his peak of health and will only grow weaker over time. He will eventually lose all his muscle strength, be put on machine support and be tube fed. We have probably another year to spend with him.



I wished I have more to say but I didn’t. That’s it, a closure to my ‘story’. Suddenly I envy the parents here who are still painfully struggling to cope with their everyday lives. You still hold a chance and a choice. Cherish it. For us, we hope to make the best of the very little time we have left and hopefully make a difference.
 

Pocoyo80

Member
Hi alittlefaith,

After my son has been diagnosed, I have been following some inspiring parent's blog whom also has special need kids. One of them is a little girl called Danielle and she has the same diagnosis as your boy. Her blog is "myprincessdanielle BlogSpot" Hope it provides you the support and medical information that you need and you know you are not alone to face the challenge.

It is easier to connect with parents that are facing the same hurdles as you.
 

Angelmum

Moderator
After the Diagnosis

Below were copied from here.

Getting a diagnosis is the first step to helping your child with special needs -- what's the next one?
Often, your direction will be determined by your child's particular disability but here are some follow-ups that are common to most families.
Consider getting a second opinion. If you have any doubts about the diagnosis or about the doctor who gave it to you, seek out a second opinion. Some disabilities are diagnosed on the basis of tests that are definitive, but others rely on a large degree of interpretation and professional judgment. Different doctors can make those interpretations differently. The gut instinct of a parent who lives with a child day in and day out is often at least as accurate as the opinion of a doctor who sees the child for a short period of time in an examining room. It's important to accept reality and not endlessly defer the help your child needs, but it's also important to get a diagnosis that feels right to you, the expert on your child.

Let yourself mourn. Once you've accepted a diagnosis, it's natural to go through a period of mourning for the "perfect" child you've dreamt of and the life that your child and your family will not have. This doesn't mean you've given up or don't think your child will have a valuable and fulfilling life. It just means you have to close one chapter before you can start the next one. Recognize, too, that family members, even extended family members, may be going through a similar period of grieving, and respect that the reactions you encounter during this time may not be true to the help and support you will receive from them in the future.

Read everything you can find. If there are books on your child's disability, find them and read them. Become an expert not only on your child but on your child's condition. Ask the doctor to recommend some good books on the subject. Comb the Special Needs shelves of bookstores and libraries. Search the virtual shelves of online booksellers. You may not find any single book or website that truly explains or encapsulates your child, but over a number of different sources you may be able to gather useful tips and information that will help you assemble your own picture. In addition to making you better informed, reading can help you feel like you're doing something even if you're not emotionally ready to do much else.

Share with family and friends. You may fear the judgments and reactions of others when you tell them the news of your child's special needs, and indeed you may not get the response you hope for from everyone you love. But support from a close circle of family and friends is one of the most important resources parents of children with special needs can have, and people can't support you if you don't give them a chance. There may be surprises, as you find friends and relatives you thought you could count on slipping away and others you never expected much from stepping up and pitching in. Not everyone is equipped to be a special friend to an exceptional child. But the ones who are, are worth their weight in gold.

Find a support group. Friends and family can help in many essential ways, but they may never be able to understand what parenting your child is really like. That's where support groups come in. You may be able to find a live support group in your area through organizations dedicated to your child's particular disability; through parent-to-parent programs; or through early intervention.

Start lining up services. If your child will be needing early intervention or special education services, don't wait to make the first phone calls to set that in motion. It can take months to get the first appointments and evaluations scheduled and completed, and you won't want to add more time to that by dragging your feet. Contact your state's early intervention office or your school district as soon as those services are recommended, and start gathering the reports and information you're going to need once the process begins. You're on the special-needs roller coaster now for sure. Fasten your seatbelt and hang on tight.
 
Didnt know this thread is still active! =) how's everyone?

Sarah is now coming to 2 years old. No diagnosis yet, with the recent MRI scan only showing that her brain stem is smaller than normal and that her connections in her brain is not well functioning. Well whatever it is, it doesn't change a bit to what I've been doing with her. It's still the PT, OT & SLT! Recently added Chiropractic and the Acupuncture to further stimulate her... And we have started oiling her for quite a while too.

Sarah seems more responsive. She turns her head to look for the person that we call out for. She now wants to be carried more often. She sometimes smile when we play with her. =)

It's the little improvement and progress that keeps me going. But that was after a period of stagnant moments.

Jia you everyone!!!

Do link yourself up with RDSS (http://www.rdss.org.sg/) and Club Rainbow. And if there are mommies here who may want to look for a support group, can pm me too!
 
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Angelmum

Moderator
hello to all... found this forum while searching more about my baby girl's condition...

I'm a 28 yo mother with 2 kids. Elder son is coming to 20 months while we have a blessed daughter who is now coming to 3 months old. Sarah is her name and has been a strong fighter since she is born.
She was born at week 38 via scheduled Csect. Daddy wasn't able to witness her birth because he had HFMD from Jovan (our elder son) just days before the operation. She had stridor (noisy breathing) at birth and was only in contact with me for a brief moment before being whisked off to the ICU. ENT doctor came, did xray and gave "green light". But the happiness didn't last long. PD said that next day morning that Sarah still wasn't well as she wasn't tolerating milk feeds at all. And so she was transferred to KKH CICU that very evening.

It broke my heart to see her on tubes. But it wasn't of a choice. The doctors there said she had a left side nerve palsy on her face. She wasn't swallowing and couldn't manage her secretions well and was having desaturation (oxygen level dropping). She later had many episodes of such and eventually we had to make a decision whether to let her have the tracheotomy (a hole in the neck) to secure her air way and to prevent her from having sudden drop in oxygen. She turned blue a few times and the last time was when I saw her oxygen dipped to only 8%! We then agreed for the surgery to be done.

All tests came back normal except now that we just know that she has got mirco deletion in chromosome 16q23.1 in the intron of the WWOX gene (what does that mean? i'm still confused!) However genetics Dr didn't think this may lead to her having the following symptoms. Her other symptoms are now stiff muscles (high muscle tone) so we have to constantly do physiotherapy on her. She still can't swallow so we have to help her stimulate but it will take a long while before anything else can be done. She has a high arch palate so bottle feeding is hard and not possible. And now we know she failed her first hearing test. Neurologist said that her brain stem cells are not functioning well (despite a normal MRI results) and she got GERD too.

I didn't get to carry her till one month later after her birth.

Now she has grown a bit bigger (still not catching up with her peers!) But I'm still praying and hoping that she will out grow all these soon! Getting a lot more fiesty! Pulled out her feeding tube for the third time! Can someone say, "OMG!?" Haa... It was her fifth admission since birth and she just got discharged last night.

She requires constant suctioning in the mouth, nose and trachy site. She is also on continuous feeding (feeding via a pump through the tube.)

I will like to link up with the mommies and daddies here... =) thank you!
Hi!!
This forum/thread is still alive!!
Some mummies and I attended March 2014 Rare Genetic event (RDSS with Club Rainbow) in Furama :tlaugh:
 

Pocoyo80

Member
Hi Jaster,

Seeing your little girl improved brighten your day isn't.... That's how special needs mummy felt...a little bit of improvement will just make our day and everything looks more positive. :Dancing_tongue:keep it up with all the therapies.
 

Cookies123

New Member
Hi
1st time posting. My 3yo boy is diagnosis as GDD. His speech is super delayed.
still trying to cope & trying to stay positive .
 

Angelmum

Moderator
Hi
1st time posting. My 3yo boy is diagnosis as GDD. His speech is super delayed.
still trying to cope & trying to stay positive .
Is he attending Early Intervention?
He earlier he gets enrolled in a good school, he chances of becoming better is higher.
 

AshKwon

New Member
Hi Mummies,

just few days ago, my 3 months old daughter was said to have moderate hearing loss and is needed to get the hearing aid. She failed both the newborn test and another retest and a sedated ABR test. That's when she was diagnosed with the hearing loss.

Im in shocked as there's no family history of hearing loss on both sides. Or am I the cause for her to get that as during the pregnancy, I had diabetes in pregnancy and was also GBS positive. Prior to labor, I was administered the antibiotic but it's only for 1.5hrs as she was coming out already. Then after that she received antibiotics during our stay in the hospital.

Family said not to go fr the aid or test as they believed her hearing hasn't fully developed yet. Funny because when at home she seems to be responding to us talking, often laughing and even cooing, though occasionally she's dnt respond to a clap or name calling (maybe she's lazy?)

im really wondering if there's really such a thing as the hearing will get better as the months goes by?

Any mummies with the same experience? Can share with me your stories?

TIA.
 

pwrpuffmum

New Member
hi Ash,

My friend Julie's daughter had hearing loss discovered during testing too. It makes me wonder how this could even be diagnosed at a few months old baby.

She is seeing Dr Lian Wee Bin who is a paediatrics specialist looking after many special needs children with hearing or learning difficulties.
Her clinic is at Thomson Plaza and she has other patients with autism and ADHD as well.

I guess hearing loss in a young child comes under learning issues too.
Wouldn't it be difficult to teach a child when they can't hear well? I am sure it is challenging!

Stay strong.

PPM
 

DorisLee

New Member
My child was diagnosed with ASD/ADD when he was 4. He is currently in P3, going on to P4 and has been faring poorly in his subjects. Initially in P1 he was still doing okay (70+). I found a tutor for him in P2 to try to support him in his schoolwork, and it maintained around 70, but this year his results dropped quite a lot (around 50+) and left a lot of the exam questions blank. He has a wondering eye, can’t sit still and is unable to concentrate for long periods, I think 15mins max if he is even interested. I’m unable to teach him as I am afraid of losing my patience, and I feel upset every time I scold him or get frustrated with him. I am not expecting his school teachers to be able to provide the help he needs as the teachers in school are holding more than 30 children at one time.


I am looking for someone who can support him academically, as I think he may need a teacher with special needs experience who can hold his attention for longer period. He is a smart boy, but maybe the common teaching methods do not suit him, in addition to him getting distracted easily. I am not looking for therapy or brain training courses that teaches my boy how to learn, but something more applicable that is based on the mainstream MOE syllabus.


Any mummies has any recommendations?
 

Angelmum

Moderator
Parents of toddler with incurable condition, The New Paper

When Caelen Lam was 10 months old, his parents were told he might not live beyond his second birthday.
That was at the beginning of this year, when he was diagnosed with Spinal Muscular Atrophy (SMA) Type 1, a condition that causes progressive muscle degeneration and weakness, eventually leading to death. There is no cure. Instead of wondering when they will lose Caelen, who is now 19 months old, to the disease, Mr Lam Kam Choy, 31 and his wife, Madam Lowell Tan, 34, are focusing on helping him live happily and comfortably for as long as possible.


The couple even drew up a wish list of things to do with him or for him to achieve before it is too late.
This includes flying a kite with him, taking a stroll with him and getting him to call them "Daddy" and "Mummy".
The couple also recently turned to crowdfunding to raise US$3,000 (S$3,900) for a multi-positioning chair which would help Caelen to sit up.
They have exhausted their savings on Caelen's medical expenses and hospital bills, and only have enough to get by every month.
They told The New Paper in their Punggol flat last Friday about picking up the pieces after Caelen's condition turned their world upside down.
It started with the toddler's weak grasps and poor balance last year. When Madam Tan pointed this out to the doctor, he was put through a series of tests. Madam Tan, a housewife, did research and narrowed it down to global development delay and SMA Type 2, which is less severe than Type 1.

Tried to be positive
Mr Lam, a business development manager, tried to stay positive.
"I kept telling (my wife)... cannot be, lah. I was quite sure it was just slow development," he said.
In January, the couple received the devastating news - Caelen had SMA Type 1.
Her eyes welling up as she recalled the consultation with the doctor, Madam Tan said: "I burst into tears on the spot. He's still so young. Telling us he's not going to make it to two years old was quite terrible."


Nodding, Mr Lam added: "If it's Type 2, at least we still have him. Daddy could work a bit harder to take care of him in the future."
The couple spent the initial weeks in distress as they tried to grapple with the heartbreaking truth.
It also meant that the dreams and plans they had were dashed.


Holding Caelen's hand as they take a walk in the park was something Madam Tan had wanted to do since he was born.
This was recently struck off her wish list by means of an edited photo of her holding Caelen's hand while standing. Mr Lam's friend had edited the photo following a family photo shoot.

"I know it's something she's always wanted to do. She can't really see (her son stand), but at least this helped fulfil her wish," said Mr Lam as he pulled out a wallet-sized photo from a small resealable plastic bag.
"It's our treasure."


Their fondest wishes, hoping against hope, are for a cure for SMA or for a miracle to save Caelen.
But with no available treatment, the couple, out of desperation, even considered having a third child so their toddler could have umbilical cord blood stem cell therapy. Cord blood is collected after childbirth. When the umbilical cord is clamped and cut, blood is taken from the section attached to the placenta. Mr Lam said: "I read that in other countries, cord blood from healthy siblings of kids with SMA has helped. I love kids, and if the third child can help, why not?"


But there were other issues to consider apart from the cost - their next child has a 25 per cent chance of having SMA.
"We asked ourselves if it would be fair or right to our third child," Mr Lam said.
On the other hand, a healthy third child would be able to keep their three-year-old daughter, Cayla, company. She had been neglected since Caelen was diagnosed, Madam Tan said.
"It can't be helped. We have only so much time with Caelen. We want to treasure it," said Mr Lam.
They are as yet undecided about trying for a third child.
But almost 10 months since the diagnosis, the couple have learnt to cope despite the hurt.
Mr Lam is thankful for the support from the Rare Disorders Society (Singapore) and the other families with SMA children whom they met through the society.


Count blessings
The couple admit they are envious when they see families with "cute little boys", but have learnt to count their blessings for having such a precocious child.


"Caelen started articulating his thoughts in short sentences when he turned one. He is very articulate.
"Once in a while, we still ask ourselves why it had to be Caelen. I'll be upset when I see other parents taking their children for granted.
"I'm envious (of their healthy children) but this is reality," Mr Lam said.
Agreeing, Madam Tan said: "Our priority is to let him learn as much as possible, even if he may not be able to move one day."
At his tender age, Caelen has no idea about his condition. He still asks to kick a ball - one of his favourite toys - even though his leg muscles are weak.


"I'll place the ball right beside his feet. He's content just to give it a little push. To him, that's kicking," she said.
"I don't know what will happen when he becomes old enough to understand his condition," her husband said quietly.
While Madam Tan said she has fully accepted Caelen's diagnosis, Mr Lam is still hoping for a miracle.
"I just keep thinking and believing that somehow, Caelen will pull through, and his body will stop deteriorating.
"We have nothing left to lose. The least we could do is to have faith. If it helps you feel better, why not?" said Mr Lam.

What is spinal muscular atrophy?
Spinal Muscular Atrophy (SMA) is a genetic condition that causes progressive muscle degeneration and weakness, eventually leading to death.

SMA Type 1, which Caelen Lam has, presents itself in infancy, between three and six months of age, said Associate Professor Stacey Tay, who heads the paediatric neurology department at the National University Hospital. It is the most severe out of the four sub-types. Each sub-type presents itself at a different age.


"Prognosis for SMA type 1 is poor and mortality is high," said Prof Tay.
There is no local data on SMA sufferers, but global data shows that about one in 80,000 suffers from SMA Type 1, she said.
Caelen's doctor, Dr Saumya Jamuar, said these patients cannot sit independently and their muscles weaken progressively.
A majority of these patients die before turning two years old due to respiratory insufficiency, the genetics consultant at KK Women's and Children's Hospital, added. Both doctors, however, pointed out that some patients live beyond two years. "This could be related to more aggressive management or to other unidentified genetic modifiers," Dr Jamuar said.


Prof Tay said putting the children on respiratory support like non-invasive ventilation, which Caelen is on, or ventilation via tracheostomy, where a tube is inserted into the windpipe, "would change the natural history of the disease". While there are patients here who have lived beyond two years old after tracheostomy, it is not recommended because of the "overall poor prognosis," she said.
$4,000 chair to help Caelen


Mr Lam Kam Choy, 31, and his wife, Madam Lowell Tan, 34, turned to crowdfunding site Indiegogo to raise money for a multi-positioning chair that costs US$3,000 (S$3,900). The chair, recommended by their son Caelen's occupational therapist, will provide adequate head and trunk support.
It will allow the boy to be at the same height with his family at the table for meals. He can also learn while sitting upright instead of lying down.

SAVINGS EXHAUSTED
Madam Tan said they resorted to crowdfunding as they had exhausted their savings of $12,000 on Caelen's hospitalisation and medical expenses.
"We initially thought of getting a bank loan but then realised that we would just end up with debt," she said.
The online fund-raising campaign will end next Monday but the couple have raised almost four times more than the US$3,000 they wanted.
They have ordered the chair from the US and it is scheduled to arrive in mid-December. They plan to save part of the extra money for Caelen's medical expenses and help others with the remainder. "We believe in paying it forward. It's only right that we help others. We know of some families who have children and are in need of money," said Mr Lam.



Chew Chor Meng - Mediacorp artist
The condition strikes one in 40,000 people and is incurable.

Doctors had told him that in the next seven to 15 years, he will face 'physical impairment', but the disease does not affect life expectancy.

The 1990 Star Search champion said that he first experienced back pains in 1997. He consulted Western doctors and Chinese physicians and all of them diagnosed it as a slipped disc. But the treatments had no effect on him.
 
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