It has been a good journey...

Hello peeps, thank you for accompanying us for the past 7 weeks, it has been a blast!! I'm sad to say that we have come to the end of our blog posts :((. But!! I hope you all had an enriching journey, you have certainly learnt about a new disease! :D Thank you for your support and if u still have any questions regarding Pompe disease you can still post your comments.  Adieu~

Mei Ying & Rose

Movieeeeee

YOOOOOOOOO. Last day of term break today so I'm gonna share a MOVIEEEEE with you guys! YES, THERE'S AN ATUAL MOVIE ABOUT POMPE DISEASE, U GUYS EXCITED???

So, the title of the movie is called " Extraordinary Measures". It's a 2010 medical drama film starring Brenden Fraser (from the Mummy series), Harrison Ford (Indiana Jones!) and Keri Russell. This film is based on the true story of John and Aileen Crowley, whose children has Pompe disease and they form a biotechnology company to develop a drug to save the lives of their children.


 
Brenden Fraser & Keri Russell ass John & Aileen Crowley
 
John & Aileen Crowley with their children

Below is the movie trailer for Extraordinary Measures.

Thats all for today , bye guys, enjoy your last day of holiday!

Reference:
http://www.filmofilia.com/extraordinary-measures-review-12925/extraordinary-measures-08/
http://www.nbcnews.com/id/35199811/ns/us_news-giving/t/celebs-tout-charitable-extraordinary-measures/

Rose

Campaigns and support for Pompe Disease

Over the years, Pompe Disease has been gaining awareness globally which is quite a feat considering that it is a rare disease. So today we will be looking at what makes this possible.

There have been campaigns that have been spreading around which promotes the awareness of Pompe. One such campaign which I have mentioned before in my previous post is the International Pompe Day. As said in the name, this is an INTERNATIONAL event which involves many countries. In support of International Pompe Day, a few countries have took the effort to raise the issue of Pompe to either the general public or the government with the intention of providing support to the local Pompe patients. Here are some example of the events that occur in some of the countries on International Pompe Day:

In Australia, Pompe disease is not reimbursed by the government. Hence, messages regarding this issue was actually sent to the Prime Minister of Health. Information of Pompe disease such as what the disease is about and how it affect patients were published in the Australian newspapers which brought the country's attention towards Pompe disease.

In the United Kingdom, a 15-year-old girl whose sister is suffering from Pompe disease, organised a marathon cum fundraising event for International Pompe Day and even shared her family's Pompe experience with the local media.

In Hong Kong, a video about an infant named Kei Kei, a local Hong Konger who was suffering from infantile-onset Pompe disease was aired on Hong Kong's TVB channel.

There are many other countries who did the same, the above are only some of the examples.

Other than campaigns to promote Pompe, there are also organizations set up to provide support to Pompe patients. One such organization is the Acid Maltase Deficiency Association (AMDA). Acid maltase defiency is another term used to call Pompe disease. AMDA was set up to promote Pompe to the public as well as to help in funding research which are working on Pompe disease.

Another example is www.pompe.com which is set up by Genzyme Corporation. This website serves as a platform for Pompe patients to get information and advice about the disease, provides tips to caretakers of Pompe patients and even provide information for healthcare professionals. The website also allows the general public to know more about the lives of Pompe patients by showing video interviews of the patients who talks about their experiences and feelings towards coping with the disease.

As you can see, the Pompe community seems to be a very close knit and supportive community <3. Hopefully they can continue to provide support for each other and spread awareness of the disease to improve the lives of the fellow patients! :)

References:

http://www.amda-pompe.org/
http://www.worldpompe.org/index.php/news/525-resounding-success-international-pompe-day-2014
http://www.pompe.com/

Some updates on Pompe Disease

Hello guys, welcome back! Since you all are already quite familiar with the disease we will not be posting anymore information on the mechanism of Pompe but instead we will be posting some extra information on Pompe. So today I will be giving some updates on Pompe disease :D

On 15 April 2014, the International Pompe Association (IPA) celebrated its first annual International Pompe Day. The purpose of this day is to raise awareness of the disease and the treatments, to encourage screening of the disease for infants and also for fundraising. There were a string of activities lined up for International Pompe Day which includes an art contest and a photo gallery. Individuals with Pompe disease and their family members also raised awareness of this day through the use of social media such as Facebook by changing their profile pictures to that of the International Pompe Day picture and they even encouraged their friends to do so! A commemorative book was also set up by the Acid Maltase Deficiency Association specially for this day which captures the events that took place with regards to International Pompe Day. So remember, every year on 15 April is International Pompe Day!! Don't forget to show your support!! :D

On 27 May 2014, BioMarin Pharmaceutical Inc. dosed their first patient with BMN 701 in the phase III INSPIRE trial for Pompe disease. Huh???? What are you talking about? Alright let me explain further. Basically, BMN 701 is a GILT-tagged Recombinant Human GAA which consist of an insulin like growth factor 2 fused with acid alpha glucosidase. In the phase III INSPIRE trial, an experiment is being caried out to assess if BMN 701 is beneficial for late-onset Pompe patients. Thus, on the day of 27 May 2014, the company that is involved in this trial had given the first patient the trial drug. The Pompe community will be looking forward to the results of this trial. If successful, Pompe patients will have another treatment available to them :D So lets hope for the best outcome for the trial!

Another great news for the Pompe community is that research has found out that a combination of cancer-treatment drugs can help in the treatment of Pompe disease. In the treatment of Pompe, the recombinant human GAA enzyme (myozyme) is injected into the child patient. However, some children will produce an immune response to the enzyme, preventing the enzyme from taking effect. As a result, the patients died. The good news is that now research has found out that a combination of cancer-treatment drugs actually suppress this immune response. This allows myozyme to take effect in patients which are producing the immune response and thus saving their lives! The results of this research has improved the lives of some children who suffer from the immune response, and hopefully more children will stand to benefit from it too in time to come.

There are a few more updates on Pompe which you can look up on the Internet if you are interested, but that's all I have for now. See you soon!! :))


References:
http://amdapompe.ehclients.com/downloads/news/BMN_701_First_Dose_Press_Release_FINAL_5-22-14.pdf

http://www.amda-pompe.org/index.php/main/news/amda_to_celebrate_first_international_pompe_day

http://www.news-medical.net/news/20120106/Combination-of-cancer-drugs-shows-promise-against-Pompe-disease.aspx

Current treatment for Pompe Disease

Hello guys, as promised here is my second post of the week!! :D In the previous post we have discussed how Pompe is diagnosed. So what comes after diagnosis?? Its treatment! Unfortunately, there is no cure for Pompe :(( so all the medications available are used only for treatment. In the past, treatment for Pompe is mainly focused on addressing the symptoms. For example, if a patient is experiencing mobility issues due to muscle weakness, physical therapy will be used to help patients improve muscle strength. Or if the patient is experiencing breathing difficulties, mechanical ventilation is used.

However, recently this has changed. Thanks to advancement in medicine, patients can now undergo Enzyme Replacement Therapy (ERT). In ERT, a lysosomal glycogen-specific enzyme is injected into the body. The enzyme then replaces the deficient GAA enzyme and breaks down glycogen in the lysosomes. As a result, many patients start to feel better and stronger. Alglucosidase alfa is an enzyme approved for use in the U.S for ERT to treat Pompe. Alglucosidase alfa comes in 2 forms: Myozyme (used to treat infantile--onset Pompe Disease) and Lumizyme (used to treat adult-onset Pompe Disease). Although treatment are available to the public, the cost of Myozyme and Lumizyme are very costly (about $200 000-$300 000 per year). That's really alot... Fortunately, the company that created the product had conducted an Alglucosidase Alfa Temporary Access Program (ATAP) where the treatment was made available free of charge to about 200 patients. However, taking Myozyme or Lumizyme may result in side effects such as hives, diarrhoea, shortness of breath etc. which is why patients are warned before they administer the drug.

(http://www.lumizyme.com/healthcare.aspx)

Reference:
http://www.myozyme.com/
http://www.pompe.com/en/patients/managing-pompe/managing-symptoms/breathing.aspx
http://dana.org/News/Details.aspx?id=43099
http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm407563.htm

Alglucosidase Alfa Temporary Access Program (ATAP)

Alglucosidase Alfa Temporary Access Program (ATAP)

Alglucosidase Alfa Temporary Access Program (ATAP)

How is Pompe Disease diagnosed?

Hello peeps! Sorry for MIA-ing for the past week, have been busy with common tests and camp >.< To compensate for my past week's disappearance, I shall post 2 articles this week to make it up to you ^^
For the past few posts we have been introducing to you the causes of Pompe and its effects. But how does one actually know if he/she has the disease? Well firstly we will look out for the symptoms. If your symptoms matches the symptoms of Pompe, you may have the disease. However we can't possible derive at a conclusion using that method can we? We need to confirm our suspicion by performing dome tests on the patient. So today we will look at some of the ways to diagnose a person with Pompe Disease.

The diagnosis tests are classified into non-invasive and invasive procedures (non-invasive procedures are less painful than invasive procedures). Non-invasive tests include obtaining a blood sample from a patient and performing an enzyme assay on the blood sample. The purpose of the enzyme assay is to measure the activity of the GAA enzyme in the blood. Pompe patients being deficient in the GAA enzyme will have low GAA enzyme activity.

  (http://www.huffingtonpost.com/2013/10/11/breast-cancer-blood-test-diagnosis-detect_n_4085172.html)

Another non-invasive test is to do DNA sequencing of the GAA gene. As mentioned in one of the earlier posts, Pompe disease is caused by a mutation in the GAA gene. Hence screening for mutation in the gene can help identify if a patient has Pompe Disease. This procedure is non-invasive as DNA can be obtained easily such as scrapping the inside of the cheeks.

For the invasive procedures, a biopsy is usually required (biopsy refers to taking a tissue sample from the patient). The biopsy can be stained and viewed under a microscope to check the conditions of the muscle cells (to see if there is a build up of glycogen in the muscle cells). Alternatively, an enzyme assay can be carried out on the biospy sample itself to determine the enzyme activity.However, blood-based enzyme assay is usually preferred as it is more accurate and widely available.

I have covered a few of the basic diagnostic tests for Pompe Disease. There are also other tests available and you can check it out if you are interested! :)

Reference:
http://www.pompe.com/en/patients/getting-diagnosed/confirming-diagnosis.aspx
http://www.dukechildrens.org/services/medical_genetics/pompe
http://www.niams.nih.gov/Health_Info/Pompe_Disease/

Pompe Disease in Singapore

In Singapore, Pompe disease is regarded as a rare disorder as there are very few cases of this disease in the country. As such, there is a community in Singapore that provides special help to these patients known as the Rare Disorder Society Singapore. This is a non-profit organisation started by parents with children that are diagnosed with Lysosomal Storage Disorder whose aim is to help other families with children with the disease.

One of the patient with Pompe disease and is currently being supported by the Rare Disorder Society Singapore is Chloe Ma. Chloe was born in 2009 and was diagnosed with Pompe disease when she turned six months old. She was the first baby in the history of Singapore to be diagnosed with Pompe disease and to uundergo the Enzyme Replacement Therapy (ERT). Chloe has to under ERT on a bi-weekly basis at KK hospital and the overall cost of the treatment amounts to approximately $300,000. And since ERT is a lifelong treatment, you can imagine how heavy the financial burden is on the her parents.



Chloe's story has been featured in the various media such as The Strait Times, The Newpaper, Lianhe Zabao, Wanbao, Mediacor Channel 5 and Channel 8. Her sharing has increased awareness to rare disorders such as Pompe disease in Singapore and brought many families together.


Picture taken from The Straits Times

The Rare Disorder Society Singapore have assisted Chloe's family under the "Power for Life" program, whereby they provide the family with $80.00 per month to help them with their utilities charges. The Society also hope to raise more funds to help in assisting the family as Chloe's living needs add up to almost $3,500 per month (just Chloe's alone, not her whole family, must be hard for her parents!).

Chloe is 5 years old now and have made good progress. Her heart is functioning well and her disease did not affect her learning abilities.

You guys can support Chloe by contributing directly to her CDA (Child development account) : http://savechloe.com/

To learn more about Chloe's condition: https://www.facebook.com/savechloe

To find out more about the Rare Disorder Society Singapore: http://www.rdss.org.sg/