A Little Hope for Mei Mei (Morquio A Syndrome (MPS IVA) Fighter) 给羡颐一个成长的希望{粘多糖症四型A小战士}

A Little Hope for Mei Mei (Morquio A Syndrome (MPS IVA) Fighter)

This little sunshine is Leong Xian Yi and was born on the 18th June 2014. This year she will be 4 years old and she loves to go to school. She is a cheerful, bubbly, happy girl who love to dress up like a pretty princess every day. Naturally, everyone at home addresses her as Princess Mei Mei. Little did we know, behind every happy smile, she is slowly developing symptom of a life-threatening rare disease.

（粘多糖症IV A小战士）羡颐的一个成长小希望

这位小小充满阳光的名叫Leong Xian Yi梁羡颐，2014年6月18日出生。今年4岁，她很喜欢上学 ，她是一个开朗，活泼，听话，快乐的小女孩，每天喜欢打扮成漂亮的公主。在家的每个人都把她称为美妹公主。我们几乎不知道在每一个幸福的微笑背后，一种危及生命的罕见严重疾病正在她身上慢慢地潜伏发展着……

On 16th January 2018, she was diagnosed with a rare disease known as Morquio Syndrome A (MPS IVA ). It is estimated that this disease impact from 1 in 200,000~300,000 live births).It is rare metabolic disorder whereby the body could not process the long chains of sugar molecules that are found through the body (often in mucus and in fluid around the joints). This missing enzyme function is to breaks down or recycles materials the body can’t use. When the body does not produce enough of this enzyme, toxic will build up in the tissues, bones, and major organs. The build-up of toxics called glycosaminoglycan (GAGs) and it will cause serious problems, including heart disease, skeletal abnormalities, vision and hearing loss, difficulty breathing, and early death.

很不幸的在2018年1月16日，她被诊断出患有一种罕见的先天性基因缺陷遗传病 称为Morquio综合征A（MPS IVA）。据估计，全球有一千位左右病患者，这种疾病在20万〜30万活产儿中会出现1位）。这是一种罕见的代谢紊乱疾病，所謂黏多醣症乃是體內缺乏某一種分解黏多醣的酵素所引起的病症，而在第四型黏多醣症其所缺乏的酵素，會造成一種稱為keratan sulphate 的黏多醣分子無法被分解。沒有完全被分解的黏多醣，不但不能提供骨頭及軟骨正常發育所需的成分，更會儲存在人體細胞中，而造成漸進性的傷害。在嬰兒期只會表現出一些輕微的徵兆，但當越來越多的細胞遭到破壞時，其典型的症狀便開始出現。当身体不产生足够的这酵素时，会在组织骨骼和主要器官中产生毒性。糖胺聚糖（GAGs）毒素的累积会引起严重的问题，包括心脏病，骨骼异常，视力和听力下降，呼吸困难或早期死亡。

Mei Mei appear to be healthy at birth, but at the age of 1.5 years old, we slowly observe the abnormality on her skeletal system; short stature, knock knees and abnormalities of the ribs, chest, spine, hips and wrist. According to her doctor, Mei Mei’s eye (cornea) will typically become cloudy as she grows which can cause vision loss and recurrent ear infection which might cause hearing loss. Life span of Morquio patients depends on the severity symptoms and they may survive until late childhood of adolescence.

Below are photos are the Mei Mei current condition:

美妹出生时很健康很可爱，但在1岁半时，我们慢慢观察到她的骨骼系统的异常，身材矮小，膝盖，肋骨，胸部，脊柱，臀部和手腕均出现异常。我们却一直在骨科跟进，直到16/1/18 我们得知美妹患有此病，据她的主诊医生透露，美妹接下来的情况会渐渐严重，骨骼的问题会越来越明显，听力及视力都将慢慢下降，内脏受损。 Morquio病人的寿命取决于严重程度症状，一般存活到青春期。

我们听到这简直崩溃，怎么好好的会发生这种事 当时完全无法接受……

下面是照片是美妹现状：

Currently there is NO CURE for this disease, and the only treatment that can be done is to slow down Mei Mei’s condition from further deterioration is Enzyme Replacement Therapy (ERT). This enzyme is a type of drug called “Vimizim” (elosulfase alfa), which was approved by FDA in 2014 and subsequently made available in Malaysia in 2015. Weekly infusion of Vimizim is required to help break down some of the long chains of sugar molecules called glycosaminoglycan (GAGs) in Mei Mei’s body. It works on a cellular level to restore cell function. It is not a cure, nor does it help with her bones, but we were told it can buy Mei Mei some time to live like a normal child again until some other cure is available. The only blessing is that besides the physical shortcomings, patient impacted by Morquio like Mei Mei is expected to have normal intellectual capability.

Based on our consultation with the doctor, the estimated total cost of ERT for Mei Mei is approximately RM 1 million (USD 250k) per year and continuous treatment is needed for the rest of her life. We were obviously shattered when we heard about the cost involved. We felt helpless as the estimated total medical expenses for Mei Mei is way beyond our affordability. Most insurance coverage would not typically cover these diseases. We believe this cost would be overwhelming for middle class families in Malaysia. I am working as a barber, while my wife is a homemaker, supporting a family of 5.

We are starting this fund-raising campaign hoping for your kind blessing and charitable donation to support Mei Mei’s medical treatment and specialist consultation. We greatly appreciate everyone’s help and moral support throughout this difficult period for our Princess Mei Mei. Nevertheless, we realize is an incredible thing to ask, but if you could help in anyway even by just sharing this post to bring social awareness and acceptance of the rare diseases itself will be much appreciated.

There are no words to describe our gratitude towards your kindness other than a sincere Thank You & May God Bless you from the bottom of our hearts. What we are trying to achieve for Mei Mei is to alleviate the impact of Morquio, while praying for the long-term cure to arrive. We are uncertain about her future, we know that it would be extremely challenging, but as parents, we ought to try our best to make the best of the road that lies ahead of her.

On behalf of our family and Mei Mei, thank you.

p/s: I have also attached a copy of the doctor’s report to validate the illness.

目前对这种疾病没有治愈的方法，唯一可以治疗的方法就只有酵素替代疗法（ERT）减缓小羡颐的病情，延缓进一步恶化。这种酵素代替疗法是一种名为“Vimizim”（elosulfase alfa）的药物，2014年被FDA批准，随后在2015年在马来西亚上市。需要每周输注Vimizim来帮助分解小羡颐身体中的一些长链糖分子称为糖胺聚糖（GAGs）。它在细胞水平上起的作用是恢复细胞功能。这不是一种治疗方法，对骨头也没有什么帮助，现阶段我们唯有替美妹争取更多的时间，等待能治愈的方法出现，让她能像一个正常的孩子一样生活，美妹身体受到莫尔基奥的影响，除了身体上的各种缺陷之外，唯一值得庆幸的是患者的智力水平不受影响可以正常学习。

根据我们与医生的咨询，美妹的ERT治疗预计总费用约为每年100万令吉（25万美元），终生需要连续治疗。当我们听说涉及的费用时，我们心都被打碎了。我们感觉非常无奈，因为美妹的估计医疗总费用远远超出我们的负担能力。大多数保险覆盖范围通常不会涵盖这些疾病。我们身为马来西亚中产阶级的家庭，这个医疗费用将是压倒性的。我是一名理发师，我有三名分别5岁4岁和两周的女儿，羡颐是二姐，而我的妻子却是一名家庭主妇，五口之家的一切开支由我一人支撑。

我们正在筹备此次募捐活动，希望您的慈祥和慈善捐款能够支持美妹的医疗和专家咨询费用。我们衷心感激在美妹公主最困难的时刻愿意伸出援手的每一个善心人。如今，我们认识到了一个鲜为人知的基因缺陷隐性遗传的罕见疾病，但如果能够得到您的帮助并分享这个帖子，将为社会带来更多人认识和了解这类罕见疾病，让更多人能在生育计划里认识更多并且能避免不幸的事情再发生，本人将不胜感激。

谢谢你，愿上帝保佑你，我们的心底无言感激。为了缓解莫奇奥对小羡颐的冲击我们正努力当中，同时祈求能尽快为美妹进行治疗。虽然在她未知数的未来里，非常具有挑战性的，但作为父母，我们将尽最大的努力使她前方的道路能走的更遥远更具价值。

我梁汉栋代表我的家人和羡颐向您致敬 万分感恩，谢谢

：我也附上了一份医生的报告，以确认病情。

(Malaysia Donation Account) PUBLIC BANK 6-4470598-04 LEONG HON THONG/LEONG XIAN YI

Love,

(Leong hon thong & Low siow ching )