罕病兒潤潤赴陸治療 行前感謝善心支持 東森新聞-2014年06月08日 下午14:13 去年確診罹患罕見疾病MLD的潤潤終於要出發去大陸進行基因治療，在出發前潤潤特別出面感謝大家，這段時間的支持跟幫忙，接下來她必須待在醫院裡長達4個多月，她說雖然會緊張但對治療有信心，而她的媽媽俞嫻原本要跟她一起出席這場感恩記者會，卻因為人還在大陸為女兒做基因比對，臨時缺席，母女只能透過電話互相打氣。每次治療只要不舒服潤潤就會哼著這首歌鼓勵自己，去年確診罹患罕見疾病異染性腦白質退化症的潤潤等了好久，終於要出發去大陸進行基因治療，原本答應陪她一起出席感恩記者會的媽媽俞嫻，因為人還在大陸幫女兒做基因配對臨時缺席，母女倆只能透過電話互相打氣。感謝媽媽為了自己，忍痛躺在病床上兩天抽骨髓做基因配對，其實潤潤從確診罹患罕見疾病後為了尋求治療一波三折，原本去年九月就要去大陸做基因治療，也募到兩千多萬的醫療費，但卻在出發前幾天因為募款不符合程序遭到衛福部通知違法，治療緊急喊卡，不過俞嫻跟潤潤不放棄，開始靠著出書跟唱歌來籌措醫療費。籌了九個多月，原本這個月10號就要成行，但因為治療儀器基因比對問題，時間又得往後延罕病少女潤潤：「媽媽跟我說過，去的時候可能會剃光頭，可能會嘔吐，(會不會緊張)會。」想到接下來的治療，再堅強的潤潤也會擔心，因為她必須在無菌室待上一個半月，抽骨髓一旦出狀況可能隨時都會要了她的命，之後還要再進行一百多天的治療，等比對報告出爐雖然時間很漫長，但對潤潤來說就是個希望為了能跟媽媽繼續生活下去。
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.
Causes MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder, and other organs. In particular, the chemicals damage the protective sheaths that surround nerve cells. The disease is passed down through families (inherited). You must get a copy of the defective gene from both your parents to have the disease. Parents can each have the defective gene, but not have MLD. A person with one defective gene is called a "carrier." Children who inherit only one defective gene from one parent will be a carrier, but usually will not develop MLD. When two carriers have a child, there is a 25% chance that the child will get both genes and have MLD.MLD occurs in about 1 in 40,000 people. There are three forms of the disease. They are based on when the symptoms begin: Late infantile MLD symptoms usually begin by ages 1 - 2. Juvenile MLD symptoms usually begin between ages 4 and 12. Adult (and late-stage juvenile MLD) symptoms may occur between age 14 and adulthood (over age 16), but may begin as late as the 40s or 50s.
UPDATED: Shire Accused of Depriving Family of Metazym Even Though They Raised €1M to Buy It Last Updated Jul 14, 2009 12:36 PM EDT A Belgian family has accused a Denmark drug company of reneging on a promise to sell them a supply of Metazym for their fatally ill daughter and instead giving it to Shire. Shire has declined to supply the family with the experimental drug, saying it does not have enough of the substance, which it is using in an ongoing trial. William Massart -- who raised €1 million to buy the drug -- believes Metazym is the only hope for his daughter Sandra, who will eventually die of Metachromatic Leukodstrophy if she is untreated. The Basingstoke Gazette reports: The family claims they were promised the drug 18 months ago by a small Danish company if they raised one million Euros.... the family raised the cash but by then the drug had been sold to Shire plc. Shire said they are unable to supply the drugs claiming that it needed the whole stock for further trials.
Shire said: We fully understand the seriousness of Mr Massart's situation but it is a very long, complex process creating the replacement enzyme and our manufacturer is unable to make more than for the nine children currently on the trials. We are looking at all manufacturing possibilities, including bringing it in-house. But that would take two to three years. We are not refusing to sell Mr Massart the drug. We just do not have enough of it. Massart believes Shire is "morally responsible for the promises made by the company they bought the drug from," he told the London Evening Standard. But which was the company that allegedly promised the Massarts the drug and then sent it to Shire? Neither report says, but this press release indicates it was Denmark's Zymenex A/S. The company did not immediately respond to BNET's request for comment. We'll update the post when we hear from them.
NCT00633139: A Single Center, Open-label, Non-randomized, Uncontrolled, Multiple-dose Study of the Efficacy and Long-term Safety of Metazym (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy
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