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.

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.

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!

View in a larger map

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

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.

Oh, it was Rare Disease Day!

All of the things that patient families were doing to spread awareness about Rare Disease Day had a tangible effect. On Facebook, many families posted "Hope. It's in our genes." photos to the wall of the Global Genes Project.  We cross-posted these to our Facebook page and you can still see them there.  Global Genes made a book with the photos to present to officials at the NIH.  In Augusta, Georgia, 27 "Friends of Frances" ran in the Augusta half marathon in support of Frances Brown and all rare diseases.  The Augusta Chronicle ran a lovely story here.  In Preoria, IL, local television aired a segment featuring five year-old Paul Rodgers and his family.  Many families simply shared news of the day over Facebook and Twitter.

So, I wanted to acknowlege the effects of many efforts big and small and to let you know that it worked!

Makenna’s March of Miracles for M-CM (Macrocephaly-Capillary Malformation) Campaign

For the month of March Makenna has partnered with her favorite Independent Silpada Designs Rep Marsha Williams to raise awareness for M-CM Syndrome and children impacted by the syndrome like her. Makenna has selected a charm called “High Hopes” from Silpada Designs to be an outward reminder of the HOPE that comes each day for her and friends with M-CM.

M-CM Syndrome brings many challenges to the children with the syndrome as well as the families that love and care for them. Children with M-CM face numerous medical setbacks due to the rarity of the syndrome. Because M-CM is so rare and impacts an estimated 300 children in the world as of 2012 we ask you show your support by raising awareness with a purchase of a charm. March is a special month for Makenna; as it is the month of her birth. She would like you to help her celebrate in style by the purchase of a charm or other items for the benefit of raising awareness for M-CM Network.

High Hopes Charm # C2554 $ 46

Chain Charm Necklace # N2480 $ 39 (Suggested Item)

How to Purchase:

1. Go to www.mysilpada.com/marsha.williams
2. Locate your hostess Brandy James
3. Purchase items online of your choosing.
4. Celebrate March 22 with Makenna by wearing your charm!

Visit the M-CM website to learn more about the syndrome and how it impacts children like Makenna Caroline.  Visit M-CM Network at : www.m-cm.net.

You can download a flyer about the fundraiser here. If you have any questions about the fundraiser, you could post to the event in Facebook.

• Provide data on the incidence of M-CM -- currently we only know the number of cases published in the medical literature, we don't know how many people actually have an M-CM diagnosis.
• Show geographic holes where the medical genetics community may be unaware of M-CM.
• Provide a contact list that can be used to communicate about research opportunities.  Registrants are not obligated to participate in research, but will be notifed about opportunities as they arise.

We hope that every patient with an M-CM diagnosis will be registered here.  If you do not have a definitive M-CM diagnosis, but think that M-CM is a strong possibility, registration would be appropriate. 

In the near future we will launch a detailed, anonymous survey of M-CM patient data.  This anonymous survey is a precursor to a full longitudinal registry. It is way to increase knowlege while we build the financial and organizational infrastructure to support our long-term goals.  Survey invitations will be sent to Contact Registry enrollees.  The survey is the creation of board member Marielle Kulling, and is part of her master's thesis at MSU.  Once the survey is launched, Marielle will be donating the data collected back to the M-CM Network and we will make results available on our website.

With the input of the M-CM community on Facebook, I've compiled some things to consider when choosing gifts for children with M-CM and their families. How much M-CM affects an individual varies considerably from person to person. I hope you will take this post as a jumping off point for conversations with parents and caregivers and consider it an opportunity to understand the experience of having a child with M-CM more thoroughly.

Apparel

Some physical characteristics of M-CM present unique challenges for apparel. The good news is, if you can find items that can work around these challenges, it will be especially appreciated!

Heads

The most common physical characteristic for people with M-CM is large head size. This varies from person to person, but it can often be quite dramatic. This impacts not only anything that goes directly on the head (helmets, hats) but also clothing that has to go over the head. Shirts and sweaters usually need to either have a V-neck or fasteners that can open. Heads are most disproportionately large in late infancy and the toddler years.

A parent in our Facebook group says, "I always say to family and friends if they are buying clothes to check the neck size by trying to pull it over their own head - if it feels remotely tight or if they feel it is at the limit then they know not to buy it".

Children with M-CM can require hat and helmet sizes for much older kids or even adult sizes. A larger size hat with little kid style could be a real treasure.

Feet

Several characteristics can impact footwear choices. Asymmetric size of feet, leg length discrepancy, and feet that are shaped very wide and/or tall conspire to make it difficult for many children to wear normal, store bought shoes. Shoes are probably not a good gift choice for most older kids with M-CM. For very young children and babies, loose joints and doughy skin can make anything that you manage to get onto feet, fall right off. Footwear gets lost and extras may be appreciated. For young children and babies, avoid footwear with a lot of structure and look for things that are very stretchy and sock-like. Some examples are Nowali, Toaster Booties and Stonz for outdoors. The size needed will likely be larger than what is typical for a child's age, so ask parents about sizes. Socks for both older and younger kids should be loose fitting to accommodate the larger ankle in kids with hemihyperplasia.

Hands

M-CM can cause finger syndactyly, where two fingers are fused together. Low muscle tone can make putting gloves on extra hard and one hand may be considerably larger than the other. Mittens will often be a better choice than gloves.

Bibs

All young children drool, but because of low muscle tone and asymmetry in the mouth, children with M-CM are champions of drool. Drooling extends past early childhood for some children. Consider bibs, bandanas and other absorbent neckwear for drooly kids.

Toys and Personal Items

There is no way to make a list of toys that would be universally loved by kids with M-CM, our kids are all so different. Instead, I offer questions for teasing out helpful information, and initiating discussion that will give you insight into a family's situation. It's important to select toys that are appropriate for developmental age rather than chronological age. Parents will often be able to tell you about developmental age because it is part of many medical and therapeutic assessments. You may be told different developmental ages for different areas of development: fine motor, gross motor, speech, cognitive. Ask what new skills a child is acquiring and what goals therapists are working on. What toys and equipment are therapists using? What is enjoyed at school? Does the child have visual or auditory impairments? Motor difficulties? What is the child's typical day like? Are there beloved characters from television or books?

Typical toys can be good choices for children with M-CM, but if you are feeling adventurous, try googling "sensory toys" and "special needs toys" for a wide range of toys and equipment designed to promote development in children with delays and medical challenges. Retailers specializing in these kinds of toys will have them sorted by areas of development rather than age, for example: sensory, cause and effect, gross motor, fine motor, vestibular, pretend play, strength and coordination.

Many parents report that their kids with M-CM are very social, loving mirrors and faces. Consider things that include photographs of the faces of loved ones. I've asked my brother to give my daughter a small photo album featuring the faces of family members. Another parent has purchased her older child a blanket that is covered with family photos.

Another suggestion that came from our Facebook group is personalized items: "I always ask family and friends for things that have her name on like socks, towels, keyrings ect so when she is not with us all her things are named and other people know they are hers."

iPad

The iPad has been widely praised for providing people with a wide range of disabilities opportunities for learning and communication. Consider an iPad if you are interested in getting a more expensive gift or a gift from a group of people. If a child already has an iPad, an iTunes gift card will allow a family to purchase new apps. When asked about gifts, many parents mentioned iPad apps.

For the Family Dealing With Hospitalization

Unfortunately, many children with M-CM will go through periods of time when they are experiencing medical crises. This can involve scheduled surgeries or surprise visits to the emergency room, followed by hospitalizations. Day to day needs can become overwhelming, you can help with gift certificates for healthy meals from take-out restaurants or housekeeping services. Consider taking the siblings of an affected child out for a special day or event, they will not be getting as much attention as usual from parents. Parents may be spending nights on fold-out hospital chairs and generally not taking good care of their own needs, find ways to pamper and care for parents, even in small ways: a sleep mask, a box of Emergen-c, healthy snacks like fresh fruit or nuts. If you can get a parent a professional massage or a pedicure, offer to sit in the hospital with the child so the parent can actually step out with minimal worry.

Your Ideas

I have aimed to keep this post general enough to be relevant to the wide range of abilities that children with M-CM demonstrate, but I hope that families with M-CM will add more specific suggestions in the comments.

Lulu donates a percentage of sales via the GoodShop toolbar, so you can maximize your fundraising impact by installing the toolbar before your purchase.  Here is a blog post with more information.

The first genes for M-CM and related macrocephaly syndromes have been found.

The research laboratories of Dr. William Dobyns at the Seattle Children's Research Institute and Dr. Kym Boycott at Children's Hospital of Eastern Ontario have found the first genes that cause M-CM and related macrocephaly syndromes. The work has also been organized by Dr. Ghayda Mirzaa at the University of Chicago, Dr. John M Graham at Cedars-Sinai Medical Center in Los Angeles, and Dr. Robert Conway and genetic counselor Daniela Iacoboni at Michigan State University in East Lansing, with assistance from many other physicians and families around the world.

The syndromes involved include:

• Macrocephaly-capillary malformation syndrome (M-CM) - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) (this is the proposed new name for the M-CM syndrome based on new findings)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)

This discovery supports our clinical impression that the MCAP (aka M-CM) and MPPH syndromes are different but very closely related conditions. However, we have found abnormalities in these first genes in only about half of children with these disorders. Thus, more research is needed to find the remaining genes that cause MCAP and MPPH, and to understand how defects in these genes cause the clinical features seen in affected children.

Our research work is continuing and we would like to enroll more families. Any families wishing to enroll in the research study should contact Hailly Butler, project coordinator for the Dobyns lab in Seattle, before sending any samples. We also plan to enroll families of children who do not meet the existing criteria for MCAP or MPPH but have overlapping features. The information and samples we will need to enroll children and families include the following:

1. Clinical summary including history of any surgical procedures
2. Growth charts from birth up to their current age
3. Photographs of the affected child from early infancy up to their current age including photos that show their entire body as well as close up photos of the face, hands and feet
4. Brain MRI scans on CDs
5. Both blood and saliva samples on affected children, and either blood or saliva samples on parents

Finally, we may ask for additional information, reports or stored biopsy samples, and may ask for skin biopsies on some affected children after reviewing the first set of records.

Full contact information for Seattle:
Hailly Butler
Email: mrireview@seattlechildrens.org
Center for Integrative Brain Research
Seattle Children's Research Institute
1900 Ninth Avenue, M/S C9S-10
Seattle WA 98101