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U.S. Residents: Take Action to Prevent Sequestration and Strengthen NIH Funding

Sequestration aka "the fiscal cliff" threatens to cut NIH funding significantly. The recent discovery of the genetic mutation responsible for M-CM came from an NIH funded investigator's lab.  Here are some ways to send a message to congress and to learn more.

Quick and easy action

Send a pre-written letter via NORD (National Orgainzation of Rare Disorders) to your representatives. I know it is the holidays and everyone is busy, even overwhelmed. If you do nothing else, please do this, it will only take a couple of minutes.

Personalize your message

With the genetic discovery for M-CM coming from the lab of an investigator funded by the NIH, we have an opportunity to tell a more personal story about the impact of NIH funding. You can personalize the message sent either through NORD's tool or independently. Here is the message that I will be sending. Feel free to use this message as-is, or use it as a jumping off point for your own message.  Please consider sharing yoru personalized version in the comments for others to see and borrow from.

I am a constituent and the parent of a child with a rare genetic syndrome, macrocephaly-capillary malformation syndrome or M-CM.

There are only about 150 documented cases of M-CM in the world, and the presentation in those 150 cases varies considerably, leaving those of us caring for affected children with many questions.

Amazingly, in the past year, an NIH funded researcher's lab (William Dobyns) has identified the genetic cause of M-CM. The mutation is a cancer gene and there may be hope for repurposing cancer treatments to help individuals affected by M-CM. Sometimes rare diseases like M-CM can provide clues to more common diseases like cancer, and this could turn out to be the case with M-CM.

I want you to understand the specific impact that NIH funding has on my child and my family and urge you to stop the planned budget sequestration and protect biomedical research at the National Institutes of Health (NIH) in any coming debt negotiations.

I fear that sequestration could stop the progress that has been made for M-CM and given our family hope. I understand that sequestration could reduce the number of NIH grants by nearly 25%.

Of course I have given you my personal reasons for opposing cuts to the NIH, but I also believe that NIH funding for medical research is essential to improving the health of the US population at large and to helping control growing health care costs. Medical innovation is a potential bright spot in the US economy.

I urge you to prioritize federal investments in medical research by first working to prevent sequestration and over the long term by supporting the NIH in long-term budget negotiations.

Create a photo to share

Below is an image I have made to share with my representatives.  An image like this can also be shared on social media if you like. Here are a few tools that you can use to add text to photos: picfont, picmonkey, and Over app (for iphone). You can also email me an image and I can add this text for you. If you create an image, please let me know if the M-CM Network may share it through our social media accounts.

Learn more

FasterCures has created a great resource for learning more about NIH funding and sequestration called Sequestration Station.

Tags: advocacy (1)

2013 Calendar Now Available

Our 2013 Wall calendar is now available for purchase on Lulu.com.

UPDATE Nov 17 2012: in two sizes - [Small Calendar] [Large Calendar]

Many thanks to all of the families that contributed their beautiful photos.  Big thanks also to Deirdre Malfatto, who generously contributed color correction work on our calendar photos both this year and last year. 

There is a discount code available until Nov 23rd of 20% off 1-9 calendars: CHRONICLE Nov 27 of 51% off any number of calendars, use code DELIRITAS. If you'd like to buy 10 or more calendars, please contact me (christy@m-cm.net) and I can put together a larger group purchase and get a steeper discount.

You may notice that this year's calendar is more expensive last year's.  This was an accident, Lulu provides templates and I set the whole calendar up in the wrong template and only noticed last night as I was publishing.  We make about $2 per calendar whether it's the big one or the smaller one, and regardless of whether or not you use a discount code.  There is a greater value for us in distributing the calendars widely than in the actual financial profit off of them, so don't be afraid to use Lulu's discount codes or get in on our group purchase.  I'm sorry about the more expensive calendar, but the plus is all of those amazing faces we were able to fit on the cover. If the price is a problem for you, please let me know and we can work something out with our bulk purchase.

We distribute these calendars to doctors and researchers that have a relationship to M-CM.  If you have a doctor or researcher that you would like to suggest, please get us their name and address and we will send them a calendar.

You may also notice a new M-CM Network logo on the cover.  We did some rebranding work with a wonderful designer in conjunction with developing a brochure. I will post more about that shortly.  The new logo will soon be rolled out everywhere.

UPDATE Nov 17 2012: We've now put together a small version of the calendar that matches the size of last year's and is less expensive. This is the calendar featured in the preview below.

Tags: calendar (4), awareness (6)

September is Hydrocephalus Awareness Month

September is hydrocephalus awareness month. Hydrocephalus affects many people with M-CM and the lack of progress in hydrocephalus treatment is shocking. Video via the Hydrocephalus Association.

Tags: awareness (6)

Submit a photo for our 2013 M-CM Network Wall Calendar until September 24th

UPDATE: Extended for those that may not have heard about this through social media through Friday September 31st.

We've built a convenient form to make submissions to our 2013 calendar easier.  Click here to submit. 

Please submit by September 24th.  We are hoping to have the calendar ready for purchase in early October. You can see the 2012 claendar here on Lulu.com.

Please submit the largest and highest resolution images that you have available. We may not be able to use some images that are small in size and low resolution. You may submit multiple images, we will do our best to include at least one photo of every person with M-CM that is submitted.

Our 2012 wall calendar was a joy to produce. We're looking forward to doing it again!

Tags: calendar (4)

M-CM Mapped

M-CM parent, Joy Collins, has put together this wonderful map of M-CM cases with contributions via Facebook.  You can post to this thread to add your location, or email it to me and I will pass it on to her.

View in a larger map

Tags: awareness (6)

Genetic Mutations in PIK3CA Identified as Cause of M-CM

The discovery of the genetic mutation that causes M-CM was published on June 24th by a team of researchers led by Dr. William Dobyns.  The mutated gene is PIK3CA and as previously hypothesized, the mutations were found to be postzygotic mosaic mutations.  This means the mutation occurs after cell division begins -- it explains the high degree of variability in severity of M-CM characteristics and the absence of familial inheritance.

PIK3CA is a gene that is known to be mutated in various cancers, and as a result is already being studied as a target for drug treatment.  Because of PIK3CA's association with cancer, the team of researchers who discovered the gene have published new care recommendations that include abdominal ultrasound screening for Wilms' tumor and encourage those caring for individuals with M-CM to be aware of the possibility of an elevated cancer risk in those with M-CM.   We have added a summary of these new management guidelines in the Resources section of our website, the full text can be downloaded here.

Please note that in both the gene discovery paper and the supplement with management guidelines, the authors refer to M-CM as MCAP.

For families interested in genetic testing to clarify diagnosis, there is not yet a clinical genetic test available to detect these mutations.  Testing may be available via research teams, including Dr. Dobyns' lab. We suggest that you share this paper with your geneticist to determine the best course of action.

Within a month prior to this publication, two other research teams have published discoveries involving mosaic PIK3CA mutations causing overgrowth syndromes distinct from M-CM. One of these syndromes is CLOVES, which has a more clearly demonstrated risk of Wilms tumor.  These two papers are:
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

We hope to post additional information about the significance of this genetic discovery in the near future.

Tags: genetics (6), PIK3CA (4)

Genetics Announcement Related to BWS and an Appeal for Open Access

Last night an announcement about a genetic discovery related to Beckwith-Wiedemann syndrome (BWS) showed up in our Twitter stream. BWS is an overgrowth syndrome that often has hemihyperplasia as a characteristic. Many kids with mild M-CM have a BWS diagnosis under consideration at some point, and the cancer screening sometimes recommended for M-CM is related to the screening recommended for BWS as well as a lesser but still significant risk in isolated hemihyperplasia, which may be mild BWS.

The announcement about the discovery states that the mutation for a very rare syndrome that results in reduced growth lies in the same gene as the mutation that results in BWS.

“Finding opposite functions in the same gene is a rare biological phenomenon” emphasized Vilain. “When the mutation appeared in the slim section we identified, the infant developed IMAGe syndrome. If the mutation fell anywhere else in the gene, the child was born with Beckwith-Wiedemann. That’s really quite remarkable.”

Unfortunately, the announcement has emphasized storytelling. The piece opens with a whimsical quote from Alice in Wonderland.

"The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, 'One side will make you grow taller, and the other side will make you grow shorter.'"

It goes on to discuss the idea of the effects of opposite growth dysregulation in the same gene by stating about BWS:

"Because their cells grow so fast, children with the disorder typically die of cancer at a young age."

This is absolutely false, children with BWS have an elevated risk of developing some types of cancer, but most never develop cancer, and among those that do, few will die from it if they are undergoing screening.

The piece appears to have been written by a public relations department from the institution where the research took place, and has been designed to be appealing to the lay public. But what we get is storytelling over scientific fact, and this example of a dramatic misrepresentation of the facts puts the accuracy of the whole piece in question.

The scientific article, whose publication prompted this piece, is not available to the reader. It's not even linked to in the article. When it appears on Nature Genetics' website and in PubMed, it is very likely to be behind a paywall. Many lay publications that receive this announcement will publish an article directly from what is stated here. Like patients, most journalists don't have subscription access to the source scientific publication.

The reasons for this lack of access to scientific material are not technical. We are deep in the internet age, the bottlenecks are related to culture and business. The open access movement is working to increase the availability of research papers, in part, by urging funders of research to require that publications resulting from their funding have a paywall-free home on the internet.

Activists are currently petitioning the White House to expand access to publications resulting from US government funding. This particular expansion would not affect the availability of the particular research described above, but each step towards expanded access will further marginalize the notion that it’s acceptable to have scientific publishing behind paywalls. Signing the White House petition is a small thing that you can do right now to say that storytelling is not enough for citizens and patients, we want access to the science.

Click here to sign the petition.

More information about this petition as it relates to patients:
Why Access2Research Matters for Patients
Free Up Research from PatientsLikeMe

Tags: research (6), genetics (6), open access (2)

Interview on Who Needs Access?

Who Needs Access? is a website that promotes free and open access to scientific research by telling the stories of those affected by paywalled research publications.  Cameron Neylon interviewed me for the site to get the perspective of the rare disease advocacy community.  As a result, I got to share quite a bit of information about M-CM, our organization and what we are working to accomplish.  You can read the interview here.

Tags: awareness (6), open access (2)

What’s in a Name?

A research paper was published early this year that compares M-CM and MPPH syndromes, which both have megalencephaly as a characteristic.  Included in that paper was the proposal to rename M-CM from "macrocephaly-capillary malformation" to "megalencephaly-capillary malformation" with a new abbreviated name of MCAP.

The subject of the paper is not nomenclature, but this detail could have significant implications for M-CM patients.  M-CM was first identified in 1997 and at that time was called macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC.  In 2007, the current name was proposed because the initial name did not accurately describe the skin markings in M-CM.

The proposed new name does not correct an inaccuracy, and we feel that it introduces unnecessary chaos into the business of caring for people with M-CM.  From our perspective, there is no problem that this name change solves.  In fact, we think that a search on "macrocephaly" is more likely to be performed by someone looking for a diagnosis since "megalencephaly" would only be determined as a result of imaging.  We see no reason to change the abbreviation from M-CM to MCAP.

We hope that researchers and clinicians do not adopt this new proposed name and continue to use M-CM, macrocephaly-capillary malformation.  It is our opinion that the purpose of a name is to serve as a stable placeholder for discussion of something, and changing the name yet again subverts that purpose, causing confusion and problems for patients and for the people who care for them.

Tags: Nomenclature (3)

CoRDS Registry Now Has Complete Online Sign-up

I just completed an interview where I was asked why we started the M-CM Network. One of the most fundamental reasons was because nobody was counting people with M-CM. A year ago, the only incidence statistic we had was the number of cases reported in the medical literature, and clearly not every case is represented this way. Our new contact registry is meant to directly address this issue.

For the past year or so I've been corresponding with Liz Donohue who runs the CoRDS (Coordination of Rare Diseases at Sanford) registry -- and following the development of their project. CoRDS aims to track people affected by any rare disease so that studies can be mounted that target signs and symptoms that may cross the borders of any individual rare disease. CoRDS provides another way for M-CM patients to be counted in the medical research community.

CoRDS has been evolving over the past year and now has full online enrollment available. It is a two-step process. First you express interest in registering via an online form. Then you are sent an email with instructions to log into a portal where you review and complete a consent form and then complete two additional short forms. I just enrolled Signe this way and the whole thing took about 20 minutes.

Please consider registering with CoRDS as a way to promote inclusion of M-CM in cross-disease research.

Tags: research (6)