A Summer Campaign: Send Jordan to England

Two weeks ago, we launched a crowdfunding campaign to fund a trip to England for Jordan, a young American woman with M-CM. The purpose of the trip will be to connect with the M-CM community there. After the trip, Jordan's father will be making a short video about Jordan's experiences. Without much publicity, our campaign is over 30% funded, and we are hoping to get it to 75% by the time Jordan leaves on August 23rd.

The online M-CM community was started by a family in England (it was called M-CMTC at the time), and a large annual meet takes place there that is currently the only regular gathering of patient families. The patient community there is in some ways the heart of the larger M-CM community.

This trip will coincide with a gathering taking place at Alton Towers in Staffordshire. Jordan and her family will also travel around visiting several families. It's Jordan's UK tour. Jordan has been posting updates on the Crowdrise campaign, and when you donate, you will get her exciting updates in your inbox.

photos of Jordan applying for her passport and holding her passport

left: Jordan sitting below sign that reads, "Apply for a U.S. Passport here." First in line at 6:30am on August 5th. right: Jordan holding her new passport, wearing a Tardis dress on August 12th.

The M-CM Network is arranging the campaign and the trip, but Jordan's journey will be her own. Jordan and her father are defining their itinerary, and the video that they produce will capture Jordan's perspective.

We are thrilled by how enthusiastically the patient community has gotten behind this effort so far. I hope you'll join in if you haven't already, share with your contacts, and help get this exciting project funded.

Click here to learn more and contribute now.

Tags: awareness (12),fundraising (7),community (1)

Rare Disease Day 2016

It's Rare Disease Day and our incredible community has been busy this year spreading awareness about M-CM.

See television pieces for Paul in Illinois, Lani in Australia, and Kenzie in Michigan.

Stephanie Moreland has released her beautiful children's book about M-CM in honor of her son, Luke.

Jordan has Instagram posts about her experiences with rare disease and being part of the M-CM community.

La Asociación Macrocefalia con Malformación Capilar de España, the M-CM patient organization in Spain, launched their new website today.

Tags: awareness (12),news (4),rare disease day (2)

Upcoming webinar on coagulopathy

We are pleased to announce the following webinar:

Understanding the term (coagulopathy) in vascular anomalies an oncologist (vascular anomalists) approach.
In this webinar for patients and caregivers, Dr. Denise Adams will explain why some people with vascular anomalies have an elevated risk coagulopathy (bleeding and clotting). You will learn about current assessment and treatment strategies. Dr. Denise Adams is the medical director of the Hemangioma and Vascular Malformations Center at Cincinnati Children’s Hospital. Webinar sponsored by CLOVES Syndrome Community, K-T Support, and M-CM Network.
Thursday Sep 3, 2015 at 4:00 PM EDT

Registration is required. Click here to register »

The webinar will be recorded and we will update this post with a link to that recording after the event.

UPDATE 9/8/2015 - A recording of the webinar is now available for viewing on YouTube.

Tags: education (1),webinar (1)

7th annual UK meet with a presentation from the Segmental Overgrowth Study

On Saturday June 27th 2015 sixteen families from across the UK met up at Thames Valley Adventure Park near Maidenhead. This meeting was the seventh year that there has been a formal gathering open to all families and children with M-CM to attend.

Just like our M-CM community as a whole, the number of families that attend has increased year on year. We were particularly thrilled this year to have so many families attending for the first time and for us to have such a wide age range represented. The youngest child with M-CM there was 18 months old and the oldest was 28 years.

We were also blessed with a perfect English summer day which sometimes feels almost as rare as our children. As always the day was full of lots of fun and laughter and sharing of experiences with one another, it really is such a joy to see so many of our children all in one place and over the years it has been fantastic to see the progress that our children have made each year.

At the close of the day we were very fortunate to have Dr Victoria Parker arrive who is one of the main researchers at the Segmental Overgrowth Study (SOS) at Cambridge in the UK. Victoria spent almost 2 hours with us, providing an update of the study and some of their findings to date as well as answering our questions. This event was kindly sponsored by the M-CM Network who provided funding for the venue and dinner for all the families.

There were lots of interesting things in Victoria's presentation, too many for me to cover here, but it was great to hear people passionate about furthering the body of knowledge around rare disorders like M-CM. For those of you who are not familiar with the SOS, their key aims are to:

  • Provide genetic diagnosis of overgrowth conditions - both known and novel causes
  • Understanding the natural history of overgrowth conditions
  • Developing the best management strategies for patients
  • Promote patient and public involvement

In terms of the testing that has taken place to date 16% of participants had a clinical diagnosis of M-CM/M-CAP when signing up to the study. Victoria outlined that the genetic testing uses saliva to look for the known PIK3CA 'hotspots' they also check the AKT1, E17K and PIK3R2/CCND2 genes, this process takes around 4 weeks however if nothing is found through this testing they then look to test tissue. A next generation sequencing panel especially for overgrowth and M-CM has now been developed which looks at the genes in more detail but this process can take up to 4 months to complete.

Victoria described how the mutation in M-CM is believed to affect different pathways and what that might mean for patients, I have outlined the 'take home messages' below:

The risk is low but current guidelines have been developed and recommend abdominal ultrasound screening until the age of 8 years; details can be found in this article.

Worth being aware that low blood sugars can arise if your child is unwell.
Extensive investigations for low growth hormone levels may not be helpful for all at this stage until more can be understood about why growth hormone levels are low (although there will be exceptions to this rule; you should be guided by your paediatrician!)

They want to understand what treatments help with neurological issues

Clinical Trials

  • They are motivated to set up a clinical trial in M-CM.
  • It will take a long time to get going (possibly years) so they need to start planning now.
  • They want our involvement in the planning and decision making around how the trial might be run.
  • It is likely that the trial will involve recruiting very young patients (potentially under a year old) and it would need to run for longer periods of time to assess any potential benefits.

In addition to all of these developments in the knowledge and understanding of M-CM Victoria outlined some really exciting news for those of us within England. They are currently working with colleagues to bid for money from NHS England to set up three Segmental Overgrowth Specialist Centres, the current proposals are for these to be located in Manchester, Cambridge and London (at Great Ormond Street). The vision for these centres is that the clinical teams here would be the experts within England on M-CM and other segmental overgrowth conditions and they would be updated by the latest research from the SOS. For our children it could mean that in the future they could see all of their specialist doctors in a single hospital visit and by concentrating patients in fewer hospital locations professionals would have a deeper understanding of the condition and be able to provide better, timelier advice on diagnosis, monitoring of the condition and any additional specialists that might be needed.

Victoria finished off her session asking what our top 10 priorities for research in M-CM would be? There was lots of discussion most of which revolved around developing a better understanding of the natural history and progression of M-CM as our children aged. Following the meeting we have also highlighted to Victoria that developing a better understanding of the link between M-CM and low muscle tone and lax joints would be something that could also have significant benefits for children in the future. If you have key research questions that you would like to see explored or investigated then please leave a comment on this post and we will pass your suggestions on to the SOS team.

If you want to find out more about the SOS study including how to enrol in the study please visit

Tags: research (8)

French M-CM Video

Watch this great video about M-CM from M-CM France by Dr. Jean-Baptiste Rivière.

Automatically translated closed captioning is available by hitting the cc button at the bottom of the player and then clicking on the sprocket icon to the right to change the language. The translation is not always accurate, but it is helpful.

Tags: genetics (8),awareness (12)

Honoring Layla

On Monday, we sent an email to our contact registry participants announcing an initiative to encourage and facilitate the collection of central nervous system biospecimens from M-CM patients. Board member Leslie Sanderson and I have been slowly working on this initiative since spring of last year.

The work that we do to try to advance scientific and medical understanding of a condition as rare as M-CM feels like it stretches between the miniscule and the enormous. Resources are scarce - this is not just money but also expertise - so we look at the assets we have and figure out how we can leverage them, how we can take steps forward, continually, even if they are the tiniest steps. Sometimes we are just stepping sideways. Occasionally, we've wondered what we have stepped in.

The first thing we did, with the amazing and generous help of expert collaborators, was publish a thorough description of the syndrome. Because of this, from the very beginning, we have heard from grateful families that found a diagnosis through our website. When we have helped someone find the very obscure and necessary information that they need, we've done something enormous for that person. We know this in our bones because we've been in those shoes. And this squashes any feelings of futility that come with all of those baby steps and all of the sideways steps.

Our biggest, shining asset is the community of affected families that has been online since before the founding of the M-CM Network. When we think about making progress, we first think about how we, as a formal organization, can amplify the power and knowledge of this informal community. We have been slowly picking off inexpensive ways to do this: forming a contact registry and using it to communicate research opportunities, conducting a survey and publishing the results.

The next step that we identified for bridging the community to research was banking biospecimens with federally funded institutions for use by researchers. For M-CM, the most relevant tissue is from the central nervous system. In late 2013 the NIH announced a new emphasis on brain banking that generated a lot of conversation in the medical research community. We started seeking advice from other disease organizations to identify an arrangement that would be optimal for donors and researchers.

Talking about brain banking is not for the faint of heart. Many rare diseases can make progress with a blood draw, a cheek swab, or some spit. Brain banking generally involves post-mortem tissue, and we had one bank representative hesitate to discuss procedural details with us, parents of patients. We knew that many M-CM patients will undergo surgical procedures where cerebrospinal fluid could be collected, and we imagined CSF collection as a baby step in this endeavor. Brain surgery is no picnic, but framing this initiative largely around surgical donation rather than post-mortem donation was certainly a comfort.

When we announced our initiative on Monday, we saw it as planting the seeds for a forest that would take a very long time to grow.

The next day, on Tuesday, Layla Jo Hedrick, a young child with M-CM, passed away after a short illness at LeBonheur Children's Hospital in Memphis. Layla's family then did something enormous, donating Layla's post-mortem brain tissue to research through the program that we had announced the day before. LeBonheur facilitated the arrangement and additionally will publish a case report about Layla. Sarah told me, “I think it's such a beautiful thing that she will be able to help others even after her death”.

Layla will be laid to rest tomorrow, and with her mother, Sarah's permission, I wanted to share her story with you and give our wider community the opportunity to appreciate Layla, her family, and this gift to the community of patient families. It’s also a gift that validates the small steps that we take as an organization, for which I am personally grateful.

Layla's family has set up a Memorial Gift to Le Bonheur to honor Layla. Layla's obituary is here.

We wish Layla’s family peace and comfort, as well as the families of other children for whom M-CM has caused an early and tragic death.

Learn how the first clinical test for M-CM was developed

Washington University School of Medicine has published the story of how geneticist Dorothy Grange worked with the university's clinical genomics lab to adapt a cancer panel to create the first clinical test for M-CM and other PIK3CA overgrowth syndromes. The article features Luke and his family -- Luke was used as a test case for developing the new panel. The development of a clinical test was a milestone for M-CM patients and we are grateful to Dr. Grange and Washington University’s Genomics and Pathology Services for their initiative.

Read: Cancer genetic test offshoot helps diagnose rare syndrome in children

Tags: genetics (8),genetic testing (1)

Brochure Now Available in Spanish as a PDF Download

We are very happy to announce that our brochure is now available as a PDF in Spanish, thanks to a community effort. Members of the Spanish language M-CM group created the translation. You can download the brochure here. Print copies will be available in the future.

Tags: awareness (12)

A Report on the 2013 Chiari and Syringomyelia Conference

I had the opportunity to attend the Chiari and Syringomyelia Conference in Los Angeles, CA July 24-27, 2013, sponsored by the American Syringomyelia & Chiari Alliance Project, Inc.  (ASAP). I was hoping to gain some information specifically for our M-CM population on treatment options.   As many of you may know, the chiari  malformation in M-CM is actually an acquired chiari like malformation due to brain overgrowth vs. conventional chiari malformations caused by a congenital defect of some sort.  The speakers consisted of 7 pediatric neurosurgeons and 6 adult neurosurgeons from around the nation.  There were also radiologists, geneticist, pain physician, dietitian, psychologist, and mechanical engineer speakers.

Dr. Timothy George pediatric neurosurgeon  from Dell Children’s Hospital spoke on Embryonic Development of the nervous system in relation to Chiari Malformation and Syringomyelia.   In general he discussed the different types of Chiari 0, 1, 1.5, 2, 3, 4, and HPF.  Each of these are a bit different on the MRI.  0-1 and 1.5 are very similar, and 2-4 are often linked to Spina Bifida.  He showed a list of genes that are involved in hind brain development (about 15 of them).  I didn’t see PIK3CA on the list but of course wouldn’t expect as M-CM is an acquired malformation.   This physician was advocating for getting rid of the chiari numbers and naming them based on the suspected cause of the malformation to prevent confusion and choose appropriate treatments.

Dr. Eric Lock PhD from Duke University genetics lab discussed Genetic Dissection of Chiari Type 1 Malformation.  Unlike M-CM, conventional chiari 1 malformation clusters in families.  I met several families where parents and multiple children have chiari and all have required decompression surgeries.  They are studying families and believe they have found a gene RSPH3 as a candidate found in these patients.

Dr.  Robert Keating Director of pediatric neurosurgery at children’s national medical center in Washington DC discussed the Natural History of Incidental Chiari.   He gave the definition of chiari as > 5 mm of cerebellar tonsils below the foramen.  He listed associated conditions including autism, ADHD, hydrocephalus, and Ehlers-Danlos syndrome (a connective tissue disorder).  M-CM was not on the list.  He discussed the incidence, reasons for surgery and clinical outcomes.  The main reasons for surgery were development of symptoms, worsening tonsillar descent, syrinx, and other (which included hydrocephalus and behavior).   The symptoms discussed were 6th nerve palsy, aspiration, ataxia, bowel/bladder dysfunction, bulbar symptoms, central sleep apnea, decreased motor coordination, drooling, extremity weakness, gait problems, hydrocephalus, hyper-reflexia, increased tone, intracranial pressure, neck pain, night time cough, nystagmus, oculomotor, paresthesia radiographic worsening, scoliosis, snoring swallowing difficulties and syrinx.

Dr. Linetsky department of radiology at UCLA reviewed the films and diagnosis of Chiari via MRI, CT etc.  He mentioned CSF flow studies may not show a significant obstructions but patients often still exhibit symptoms of significant obstruction.   He mentioned that pituitary issues and growth hormone deficiency is common in chiari.

Dr. Hal Retake from the Chiari Institute in New York discussed Chiari malformation vs. Chiari anomaly.   Chiari malformation being the congenital version and anomaly being acquired  or similar in symptoms but not the traditional definition of chiari.  He showed the surgical procedure recommended by him and other neurosurgeons at the conference.  They open the dura, reduce the tonsils, create an opening into the 4th ventricle, place a dural patch and place a titanium plate to hold up the cerebellum and keep the muscles from pressing against and attaching to the dural patch.  He mentioned that in his practice they have seen children that have had diagnosed autism that actually had their behaviors go away and started speaking after chiari decompression surgery making them think that the patients never had autism but just exhibited autism like behaviors due to pain associated with chiari.  The goal of the surgery is to create a cisterna magna (an area of CSF around the cerebellum as a cushion).

I asked the question during the question period: what symptoms would you consider chiari decompression surgery in young children or children with developmental delay that may not be able to communicate as the main symptom for adults and children were headache with coughing and neck pain?  The following symptoms were given to me:

  • If there is a syrinx present on MRI, that was a immediate surgical intervention reason as persistent syrinx can cause permanent spinal cord damage and many are resolved with chiari decompression surgery. 
  • Gagging, swallowing problems,  drooling, speech delays, oral defensiveness (especially to texture), snoring, clumsiness, sleep apnea, stridor, cardiac arrhythmias, excessive sweating, hearing and visual issues. 

Dr. John Heiss from the NIH discussed those that would most benefit from surgical treatment.   Symptoms included headache at rest, headache with cough, pain in abnormal areas, subjective weakness, sensory loss by history, impaired ambulation, increased pain with cough, weakness by exam, atrophy, spasticity, ataxia, sensory loss by exam.  Benefits being, relief of headache, improvement in brainstem symptoms such as swallowing and central sleep apnea, improvement in cerebellar symptoms ie. balance issues, spinal cord function, weakness, loss of sensation and chronic pain.

Dr. Bermans Iskandar  director pediatric neurosurgery from university of Wisconsin discussed the research started by ASAP re: pediatric multicenter trial of chiari surgical techniques ie. Just laminectomy/ crainiotomy, laminectomy/crainiotomy with duroplasty, laminectomy/ crainiotomy with duroplasty and reduction of tonsils and the outcomes of all.    This will hopefully  help to determine the most effective intervention for chiari.

Dr. Jorge Lazareff, pediatric neurosurgery at UCLA recently retired, discussed shared decisions between patient, family and physician.  I was very impressed by his attitude in involving the parents.  Having met quite a few patients with children with chiari, finding a diagnosis, a neurosurgeon to treat them and listen to them seems quite similar to the issues that many of our families with M-CM face.  I asked him after his presentation what would he do with a child that was unable to express symptoms and he told me, “you ask the mom”.

Dr. Cormac Maher from University of Michigan spoke on chiari and scoliosis.  He stated that  those patients with less severe scoliosis do better with posterior fossa decompression surgeries.  Syringomyelia can occur independently from Chiari.  Patients with  Syringomyelia and syringomyelia with chiari are more likely to develop scoliosis that will require surgical intervention.

Dr. Arnold Menezes from department of  neurosurgery at University of Iowa discussed cranial nerve issues with chiari and Syringomyelia may cause temperature regulation problems and many have increased sweating.  Also mentioned that when doing chiari decompression surgeries in children with cardiac arrythmias that it may be in best interests to place a temporary pacemaker as it may be difficult  to manage when the patient is lying on his/her stomach for the chiari surgery.

Dr. Gerald Grant   discussed diagnosis of pseudotumor.  I had a one on one discussion with him, he was one of the few that was familiar with M-CM.  He stated that great care needs to be taken  with decompression in M-CM due to  the large head size and the neck musculature as well as vascular issues in these kids.

Dr Farbod Asgarzadie MD  from Loma Linda discussed Patients with Chiari are more likely to have central sleep apnea (not obstructive sleep apnea) that will often resolve with Chiari decompression surgery.

Dr. Lam from University of Chicago discussed Children with Chiari Malformation are more likely to be obese than the general population.

Bryn Martin Phd discussed a study on CSF flow ongoing at the University of Akron in Ohio at the Conquer Chiari Research Center.  They have created a model to study CSF flow in chiari patients and will be using relatively new 4 D MRI technology (current MRI’s are only 2 D).

Other key things I learned as a result of the conference:

  • There are many different types of Chiari malformations, the differences depend on radiographic differences.  The primary definition of a Chiari 1 is cerebellar tonsils that are 5 mm below foramen magnum, but they still may operate if there are symptoms and this criteria is not met.  The distance below the foramen magnum may also change with age.  There is evidence that the tonsils are lower in the  2nd  and 3rd  decade of life and there should be age specific norms established.
  • Pain is a major issue for traditional Chiari and syringomyelia patients years after chiari decompression surgery.  I have not noticed that as an issue in our kids/families with M-CM. Have others noticed that this is a significant issue after the immediate postoperative period?  Because of these issues many lectures on lifestyle, pain management, and meditation were at this conference.

I realize many of our children have many of the symptoms of Chiari malformation.  In my mind, knowing when and if surgical intervention is necessary is an essential question that needs to be researched.   The group of neurosurgeons presenting at this conference had significant experience in traditional chiari decompression surgery.  I also had the opportunity to speak with many of the neurosurgeons re: their experience with children with M-CM and educate quite a few on what it is.  Feel free to contact me if you would like more specifics.    The agenda and speakers can be found on the ASAP website.

Tags: chiari (1),conferences (1)

Nomenclature Letters in the American Journal of Medical Genetics

In May 2012, I submitted a letter to the American Journal of Medical Genetics about a name change for M-CM proposed in a paper published in that journal. The editor, John Carey, was receptive to input from the patient community and agreed to publish the letter.  The letter includes comments left by patient families on an earlier blog post about this issue.  It has finally been published in the August 2013 issue in conjunction with a response from Dr. Mirzaa and Dr. Dobyns and an editor's note. AJMG has generously removed the article fees from them so that they are free for the patient community to read. We are grateful to Dr. Carey for making our point of view available in the medical literature and for his concern for this issue in a broader sense.


Tags: Nomenclature (6)

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