Communication with the patient's family & research network;
Dear Mr. Lou:
Our specialists suggested that you should bring your child back to NCKU
hospital since there is fully equipped with medical supply and their
medical teams are there. We will keep up doing research and provide you as
update as possible. It is a long suffering journey so please hang in
there. They also recommended that you should seek for social worker in the
hospital to help you find a funding either charity group or religious
group. Please take care of yourself and if you have any question, please
feel free to email us.
Best Regard,
Date: Monday, May 28, 2007, 9:25 PM
Dear : Thanks for your suggestion. But, maybe you don't know NCKU justsay that my son's disease is medical limitation,they don't know how to do on my son. The doctor in NCKU, even in otherhospital, they just want to see the generaldisease or just interested on the disease they knew. These doctors don'thave any time to spend on special disease,maybe I should say their knowledge is poor...Sorry, I am upset. I remembered I talked about the doctor in NCKU, TVGH and NTUHjust do blood and urine test, don't haveany confirmed disease diagnosis and any suggestion for my son's disease. So, I think you should understand that the doctor in NCKU, TVGHand NTUH don't know how to treat my son.And the social worker in the hospital in Taiwan just know to ask the doctorhow about my son, they don't know theycan do anything...for example, I ask them "could you push the gene test inTVGH?", their answer is "the doctor in TVGHsay the gene test need to spend so much time...". One gene test in TVGHwasted ~6 months...And, could I find a funding from charity group or religious group even thedoctor give up to treat my son's disease?Thank you!B/RRFDate: Monday, May 28, 2007, 10:42 PM
----- 訊息來自 jreiss@gwdg.de (位於 Thu, 18 Jan 2007 08:26:51 +0100)----- 寄件人: Victor Liang <victor_liang88@yahoo.com> 主旨: Re: An 8-month old baby with Molybdenum Cofactor Deficiency is indesperate need of help/advice. Alright, diagnosis of MoCo deficiency is quite easy: sulfite in (fresh!!!)urine is elevated anduric acid in serum is lowered, both clearly and constantly.I attach our latest research paper. All our therapy studies currently areperformed inANIMALS. We are NOT cleared for ANY human application. If we are one day,surely wewill not treat children with severe brain damage. This will never pass theethics committee.If diagnosis of MoCo deficiency is confirmed, we cannot offer any help forthe time being.The only thing you could do - and only if your company is a really largeone - is to persuadeyour bosses to support our research, e.g. by financing a Ph.D. student inour lab for 2 to 3years. We could give such a grant a fancy name suitable for promotionpurposes, but I haveto repeat once more that all this would have no relevance at all for thekid of your colleague.It just could accelerate our efforts to change a comparable situation inyears to come.Yours,Prof. Dr. rer.nat. Jochen ReissInstitut für HumangenetikHeinrich-Düker-Weg 12D-37073 Göttingen, GermanyTel. 0049-551-39-12926FAX 0049-551-39-9303=====================================================================================================================On 2 Feb 2007 at 13:12, Victor_Liang@umc.com wrote:An: jreiss@gwdg.deKopie an: Re_fa_Lou@umc.comBetreff: Some more questions on MoCoD that the family has. Yourhelpwith this is deeply appreciated.Von: Victor_Liang@umc.comDatum: Fri, 2 Feb 2007 13:12:23 +0800Dear VictorDear Prof. Reiss, It seems that the doctors in Taiwan are still trying to confirm whethermycolleague's son has MoCoD. This has been going on for quite some time nowandyou can imagine the stress that this is causing the family. My colleague has 4 questions that he would really appreciate yourcommentson.1. What is the quickest way to accurately diagnose MoCoD, and how long doesthis usually take?Sulfite on dip stick test strips with fresh (!!!) urine is high and uricacid in the bloodis low, as described below.2. What are the response and factors in blood and urine tests (the hospitalherefound that the lactic acid was hig, and the uric acid was low).see 1.3. The hospital here says that genetic diagnosis will take 3 to 6 months.Does thissound right or are maybe they are using a older technology?This is realistic since it is a lot of work.4. If later on, MoCoD is confirmed, is there a possibility of experimentaltreatment inGermany on humans being approved in the near future?No. We still need more animal experiments before even applying. Thank you again for your response and kind assistance with this matter.It isdeeply appreciated by the family. Regards...VictorYours, Jochen
Date: Tuesday, May 29, 2007, 2:19 PM
Dear Mr. Lou:
My school sis in NY has called me and she would like to give you some
information about medical doctor in Tainan.
Please kindly contact her either her email or msn messenger.
She has been a very good friend of mine through many years and
she also has been through her sons' rare illness.
She also will go back Taiwan in summer so she will visit you as well.
Please always keep postive and good luck to you and see enclosed
attached file that I have set up a group for you and
hope you can get more reply from others.
Please take good care of yourself and send my greeting to your wife.
We are all here for you and all you need is to ask!
If you like to reach me, you can give my officer, Alika a call.
Date: Wednesday, May 30, 2007, 4:38 AM
寄件人: mini_chang@tzuchi.org.twmini_chang@tzuchi.org.tw 於 2007/05/30PM 04:38 收件人：aawscmocoproject@yahoo.com副本抄送： 主旨 : 回覆:They need your help 您好： 很感恩您的來信。 關於醫療問題，煩請直接與就近的慈濟醫院詢問，您可以直接從如下網址進 入到其相關慈濟醫院，使用留言版： http://www.tzuchi.com.tw/ 感恩您∼ 佛教慈濟基金會敬啟 ******來函內容如下：****** E-Mail：aawscmocoproject@yahoo.com 標題：They need your help 內容： Dear all: Please assist Mr. Lou anyway you can and currently there is no hospital in Taiwan will treat his son. Their son right now is back at home without care. The whole world is still trying to research for its treatment. Please read the followings; AAWSC MoCo Project dated May 24, 2007 http://health.groups.yahoo.com/group/aawscmocoproject/ This is a group for Molybdenum cofactor deficiency research. Currently there are 100 cases around the world without any cure or treatment in this stage and most of these children die in early childhood. We are here as a volunteer Group to help them through out medical research and psychological and emotional support. We are seeking volunteer around the world to work with us enable to save this 8 months old boy currently lives in Taiwan. If you are interested in becoming our volunteer, please email to aawscmocoproject@yahoo.com we are looking forward for you to join us! Thanks again for your support.
Date: Wednesday, May 30, 2007, 4:38 AM
寄件人: mini_chang@tzuchi.org.twmini_chang@tzuchi.org.tw 於 2007/05/30PM 04:38 收件人：aawscmocoproject@yahoo.com副本抄送： 主旨 : 回覆:They need your help 您好： 很感恩您的來信。 關於醫療問題，煩請直接與就近的慈濟醫院詢問，您可以直接從如下網址進 入到其相關慈濟醫院，使用留言版： http://www.tzuchi.com.tw/ 感恩您∼ 佛教慈濟基金會敬啟 ******來函內容如下：****** E-Mail：aawscmocoproject@yahoo.com 標題：They need your help 內容： Dear all: Please assist Mr. Lou anyway you can and currently there is no hospital in Taiwan will treat his son. Their son right now is back at home without care. The whole world is still trying to research for its treatment. Please read the followings; AAWSC MoCo Project dated May 24, 2007 http://health.groups.yahoo.com/group/aawscmocoproject/ This is a group for Molybdenum cofactor deficiency research. Currently there are 100 cases around the world without any cure or treatment in this stage and most of these children die in early childhood. We are here as a volunteer Group to help them through out medical research and psychological and emotional support. We are seeking volunteer around the world to work with us enable to save this 8 months old boy currently lives in Taiwan. If you are interested in becoming our volunteer, please email to aawscmocoproject@yahoo.com we are looking forward for you to join us! Thanks again for your support.Date: Thursday, May 31, 2007, 4:02 PM
Thank you for your inquiry. We at the NIH Clinical Center Patient Recruitment and Public Liaison Office welcome the opportunity to assist you. Our office provides information about how to become a participant in the research studies at the NIH Clinical Center in Bethesda , MD. The NIH Clinical Center is the research hospital for the National Institutes of Health (NIH). All of our care is directly related to our medical research studies.
We currently are not conducting any studies at the NIH Clinical Center for Molybdenum cofactor deficiency.
Please review the web site http://health.nih.gov .
You may also want to review the website, http://www.clinicaltrials.gov
Patient Recruitment and Public Liaison Office
National Institutes of Health Clinical Center
10 Cloister Court
Building 61
Bethesda, MD 20892-4754
prpl@cc.nih.gov
1-800-411-1222
TTY 1-866-411-1010
Monday-Friday 8:00AM-6:00PM EST
Closed Federal Holidays
http://clinicalstudies.info.nih.gov/
The purpose for collecting your name and e-mail address is to respond to your query and/or refer you to one or more Institutes for possible participation in a study. Please be advised that email is not necessarily secure against interception. If your communication contains sensitive or personal information, you are encouraged to contact us by phone via our toll free number
Dear research center:
We would like to know if Mr. Lou's son in Taiwan would be able to be part of your research. Please advise us. Thanks for your assistant.
Mr. Lou works at UMC in Taiwan whose son was diagnosed Molybdenum cofactor deficiency while he was just 5 months old and now he is 8 months old. Mr. Lou has seeking anyway to help out his son through out the world. We would like you to give them any information if you could through out medial treatment and research and thanks for your assistant. It is sad that currently there is no treatment in Taiwan for his son and they only rely on any health food and Mr. Lou has told me that Taiwan medical team has no way of helping them at this point. There is a German study on animal only and not sure how long would take for human testing. Currently there is no hospital will accept Mr. Lou's son. Please advise us what we could do.
Date: Thursday, May 31, 2007, 8:59 PM
Dear : The following mail is about we contact with 罕見疾病基金會 on2007/1/22.B/RRF 崔鴻聲 32456 To: Re fa Lou/UMC@UMCG IPDS/DSCE/ESE cc: Emily SHHuang/UMC@UMCG Jason Chui Subject: Fw:同事小孩生病了！急需您珍貴的諮詢 2007/01/22 11:30 ----- Forwarded by Jason Chui/UMC on 2007/01/22 上午 11:29 ----- "Ya-Lin" <ms05@tfrd.org.tw To: <Jason_Chui@> > cc: Subject: Re:同事小孩生病了！急需您珍貴的諮詢 2007/01/22 上午 11:24 您好,關於您同事的問題，因問題涉及醫療專業，故本會(罕見疾病基金會)將您的問題請教台大基因醫學部醫師，他們的回答如下，供您參考:Molybdenum(鉬)在體內的代謝物是作為亞硫酸鹽氧化酶(sulphiteoxidase), 黃嘌呤氧化酶(xanthine oxidase)以及乙醛氧化酶(aldehydeoxidase)三種酵素輔脢的微量元素，缺乏會造成在黃嘌呤(xanthine)代謝成尿酸(uricacid)、亞硫酸(Sulfite)轉變成硫酸鹽(Sulfate)以及其他的代謝過程受阻。病人在嬰兒時期便有抽筋,腦病變、發展遲緩、小腦等症狀，之後可能會有水晶體脫位、尿路結石等病徵。血中的高胱胺酸(homocysteine), 胱氨酸(Cystine)與尿酸下降但是黃嘌呤(xanthine), 牛磺酸(taurine)以及硫胱氨酸(sulphocysteine)上升。尿中的亞硫酸(Sulfite),硫代硫酸鹽(thiosulfate), 硫胱氨酸(S-sulfocysteine), S-sulfocysteine,牛磺酸(taurine), 次黃嘌呤(hypoxanthine),以及黃嘌呤(xanthine)下降但硫酸鹽(Sulfate)及尿酸上升。鉬輔脢缺乏症(Molybdenum cofactordeficiency)致病原因調控Molybdenum cofactor合成的MOCS1、MOCS2或是GEPH基因損壞所致，大部分報告的病人是屬於MOCS1基因的問題。對於此症的治療，目前主要以症狀治療如癲癇控制等為主。所幸目前在國外已有動物模型，並且在積極尋找治療藥物當中，希望能夠儘早找到治療方法。另盧先生上週五已與本會聯繫過，確實目前此疾病尚未有有效的治療方式，但我們仍盡所能的協助。敬祝 順心林雅玲醫療服務組組長財團法人罕見疾病基金會台北市中山北路2段52號10樓E-mail:ms05@tfrd.org.twTel:02-25210717-151Fax:02-2567-3560Date: Thursday, May 31, 2007, 10:18 PM
Dear 大林慈濟醫院: 台中榮總合成大並沒有也不知如何治療我兒子,只是做檢查,我們只是希望貴院有傑出和熱心醫生知道如何治療我兒子..很多人說慈濟醫院很用心,叫我一定要找你們,因為我已對成大和中榮太失望了謝謝!B/RRF dweb@tzuchi.com.t w To: cc: 2007/06/01 10:08 Subject: 大林慈濟醫院第二次敬覆 親愛的大德，阿彌陀佛： 感恩您的來信！ 來信中，深切感受您為兒子病況焦急的心情，希望您要加油，也衷心期盼您的兒子早日康復。依據您信中描述，您兒子目前已在台中榮總接受治療，不知是否仍需要本院協助，以及本院能提供哪些方面協助？還請您不吝告知！ 祝平安！大林慈濟醫院敬覆合十Date: Thursday, May 31, 2007, 10:18 PM
Dear 大林慈濟醫院: 台中榮總合成大並沒有也不知如何治療我兒子,只是做檢查,我們只是希望貴院有傑出和熱心醫生知道如何治療我兒子..很多人說慈濟醫院很用心,叫我一定要找你們,因為我已對成大和中榮太失望了謝謝!B/RRF dweb@tzuchi.com.t w To: cc: 2007/06/01 10:08 Subject: 大林慈濟醫院第二次敬覆 親愛的大德，阿彌陀佛： 感恩您的來信！ 來信中，深切感受您為兒子病況焦急的心情，希望您要加油，也衷心期盼您的兒子早日康復。依據您信中描述，您兒子目前已在台中榮總接受治療，不知是否仍需要本院協助，以及本院能提供哪些方面協助？還請您不吝告知！ 祝平安！大林慈濟醫院敬覆合十Date: Friday, June 1, 2007, 2:11 PM
The materials provided are for informational or educational purposes only and are not intended as a substitute for professional medical care, advice, diagnosis, or treatment. This material does not represent an endorsement of any specific tests or products by the National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot guarantee the accuracy, completeness, timeliness, or usefulness of the opinions, advice, services, or other information. Moreover, we strongly recommend that you seek the advice of your health care provider with any questions regarding your medical care.
Dear Ms.
You recently sent an e-mail and called the Genetic and Rare Diseases (GARD) Information Center about molybdenum cofactor deficiency. You said you have a friend in Taiwan whose son has this cofactor deficiency and is currently not receiving any care, as the hospitals feel they have done all they can for him. You have done research on this condition and have found many journal articles; however, you wonder if there is anything the Information Center can do to help. In your e-mail you list that you are looking for volunteers with the following:
- Medical or law consultant
- Research through current available documents
- Translation documents
- Home visit for MoCo families
- Answering email or phone calls
- Contact medical profession teams
- Post news on other sites or blogs
- Enable to communicate via email or phone
- Writing professional documents
- Medical Marketing Research
We are very sorry to hear about your friend’s son and the difficulties that family has been experiencing. We also want to commend you on your dedication to assist your friend during this difficult time. Unfortunately, we cannot volunteer to assist you with your request. The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD) at the National Institutes of Health to provide assistance in finding information resources and supportive resources specific to diagnosed genetic and rare diseases.
If you have any other concerns, please contact us again.
Sincerely,
Sarah Church
Information Specialist
The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute and the Office of Rare Diseases at the National Institutes of Health to provide responses to public information requests. Information Specialists are available Monday through Friday, 12:00 p.m. to 6:00 p.m. Eastern time (excluding Federal holidays), to respond to questions about genetic and rare diseases.
Telephone: 888-205-2311
TTY: 888-205-3223
Email: GARDinfo@nih.gov
Fax: 202-966-5689
Mail: PO Box 8126
Gaithersburg , MD 20898-8126
From: [mailto:aawscmocoproject@yahoo.com]
Sent: Saturday, May 26, 2007 4:24 PM
To: .Gard (Genetic and Rare Diseases Information Center )
Subject: Molybdenum cofactor deficiency
Please read the followings if you can provide us any information. Thanks in advance.
AAWSC MoCo Project dated May 24, 2007
This is a group for Molybdenum cofactor deficiency research. Currently there are 100 cases around the world without any cure or treatment in this stage and most of these children die in early childhood. We are here as a volunteer Group to help them through out medical research and psychological and emotional support. We are seeking volunteer around the world to work with us enable to save this 8 months old boy currently lives in Taiwan. If you are interested in becoming our volunteer, please email to aawscmocoproject@yahoo.com we are looking forward for you to join us! Thanks again for your support.
AAWSC MoCo Project Coordinator
MOCOȱ·¦Ö¢(Molybdenum cofactor deficiency) dated May 24, 2007
Mr. Lou works at UMC in Taiwan whose son was diagnosed Molybdenum cofactor deficiency while he was just 5 months old and now he is 8 months old. Mr. Lou has seeking anyway to help out his son through out the world. We would like you to give them any information if you could through out medial treatment and research and thanks for your assistant. It is sad that currently there is no treatment in Taiwan for his son and they only rely on any health food and Mr. Lou has told me that Taiwan medical team has no way of helping them at this point. There is a German study on animal only and not sure how long would take for human testing. We have set up a group discussion called Moco Project, please come to join us.
Volunteer can be doing as the followings:
- Medical or law consultant
- Research through current available documents
- Translation documents
- Home visit for Moco families
- Answering email or phone calls
- Contact medical profession teams
- Post news on other sites or blogs
- enable to communicate via email or phone
- Writing professional documents
- Medical Marketing Research
Date: Friday, June 1, 2007, 2:11 PM
The materials provided are for informational or educational purposes only and are not intended as a substitute for professional medical care, advice, diagnosis, or treatment. This material does not represent an endorsement of any specific tests or products by the National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot guarantee the accuracy, completeness, timeliness, or usefulness of the opinions, advice, services, or other information. Moreover, we strongly recommend that you seek the advice of your health care provider with any questions regarding your medical care.
Dear Ms. Cheng,
You recently sent an e-mail and called the Genetic and Rare Diseases (GARD) Information Center about molybdenum cofactor deficiency. You said you have a friend in Taiwan whose son has this cofactor deficiency and is currently not receiving any care, as the hospitals feel they have done all they can for him. You have done research on this condition and have found many journal articles; however, you wonder if there is anything the Information Center can do to help. In your e-mail you list that you are looking for volunteers with the following:
- Medical or law consultant
- Research through current available documents
- Translation documents
- Home visit for MoCo families
- Answering email or phone calls
- Contact medical profession teams
- Post news on other sites or blogs
- Enable to communicate via email or phone
- Writing professional documents
- Medical Marketing Research
We are very sorry to hear about your friend’s son and the difficulties that family has been experiencing. We also want to commend you on your dedication to assist your friend during this difficult time. Unfortunately, we cannot volunteer to assist you with your request. The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD) at the National Institutes of Health to provide assistance in finding information resources and supportive resources specific to diagnosed genetic and rare diseases.
If you have any other concerns, please contact us again.
Sincerely,
Sarah Church
Information Specialist
The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute and the Office of Rare Diseases at the National Institutes of Health to provide responses to public information requests. Information Specialists are available Monday through Friday, 12:00 p.m. to 6:00 p.m. Eastern time (excluding Federal holidays), to respond to questions about genetic and rare diseases.
Telephone: 888-205-2311
TTY: 888-205-3223
Email: GARDinfo@nih.gov
Fax: 202-966-5689
Mail: PO Box 8126
Gaithersburg , MD 20898-8126
From: [mailto:aawscmocoproject@yahoo.com]
Sent: Saturday, May 26, 2007 4:24 PM
To: .Gard (Genetic and Rare Diseases Information Center )
Subject: Molybdenum cofactor deficiency
Please read the followings if you can provide us any information. Thanks in advance.
AAWSC MoCo Project dated May 24, 2007
This is a group for Molybdenum cofactor deficiency research. Currently there are 100 cases around the world without any cure or treatment in this stage and most of these children die in early childhood. We are here as a volunteer Group to help them through out medical research and psychological and emotional support. We are seeking volunteer around the world to work with us enable to save this 8 months old boy currently lives in Taiwan. If you are interested in becoming our volunteer, please email to aawscmocoproject@yahoo.com we are looking forward for you to join us! Thanks again for your support.
AAWSC MoCo Project Coordinator
MOCOȱ·¦Ö¢(Molybdenum cofactor deficiency) dated May 24, 2007
Mr. Lou works at UMC in Taiwan whose son was diagnosed Molybdenum cofactor deficiency while he was just 5 months old and now he is 8 months old. Mr. Lou has seeking anyway to help out his son through out the world. We would like you to give them any information if you could through out medial treatment and research and thanks for your assistant. It is sad that currently there is no treatment in Taiwan for his son and they only rely on any health food and Mr. Lou has told me that Taiwan medical team has no way of helping them at this point. There is a German study on animal only and not sure how long would take for human testing. We have set up a group discussion called Moco Project, please come to join us.
Volunteer can be doing as the followings:
- Medical or law consultant
- Research through current available documents
- Translation documents
- Home visit for Moco families
- Answering email or phone calls
- Contact medical profession teams
- Post news on other sites or blogs
- enable to communicate via email or phone
- Writing professional documents
- Medical Marketing Research
ら戳: Wed, 6 Jun 2007 10:37:58 -0500
盚ン��: "Root, Candace" <Candace.Root@ttuhsc.edu>
Μン��: "AAWSC"
I am sorry to take so long to respond but we are not able to assist you. Our research deals only with myelin and remyelinization
From: AAWSC
Sent: Wednesday, May 23, 2007 10:08 AM
To: mp@myelin.org
Subject: update of Moco project
Dear Mr. Odone, Myelin group:
