2012 NOVA Family Conference

NOVA is pleased to announce our 2012 Family Conference

October 5-7, 2012

Cincinnati Children’s Hospital, Cincinnati, OH

Kingsgate Marriott Hotel, Cincinnati, OH

The preliminary agenda is below- please note it is subject to change.

 

10/5

1:00 pm          Early Registration and Check-in

3-5:00 pm      Vascular Anomalies- A basic course (3:00-5:00 pm)- this session is open to everyone but is designed for the family member that is new to vascular anomalies.  It will cover a broad spectrum of the classification, diagnosis and treatment for vascular anomalies.

5:15 pm          Welcome Reception
10/6

8:00 am          Seminar Sessions We will host 7 small group sessions on a variety of topics- including, hemangioma, malformations-PWS SW, PHACE, KHE-and related, KT, Cloves and overgrowth, Venous-LM and AVM. We will also have times for larger groups session on a variety of topics- Research, Psych, Child Life, Genetics, Adults with Vascular Anomalies, Laser, Support and Advocacy. Do not worry there will not be overlap of times- you will get to go to everything you need to hear!
We will also have a dinner that night

10/7

8:00 am          Closing Breakfast- Kings Gate Marriott Hotel

Hope this helps with planning- make sure you also get your reservation at the hotel!  Feel free to email us- khall@mail.novanews.org

 

Conference Update: Hotel Reservations for the NOVA Family Conference may be made by going to www.kingsgatemarriott.com and entering the Group Code NFCNFA. You can also call 1-888-720-1299 and ask for the NOVA Family Conference room block NFC. Standard room rates are $102/night. The block begins on 10/4/2012 and runs through 10/6/2012. NOVA will not be making reservations for guests. We will have general conference registration information available soon.

Genetics of Hemangioma

We have had a lot of discussion on face-book concerning the genetic/inheritance of hemangioma.  It is the generally understood that infantile hemangioma is sporadic, that there is not an inheritance pattern.  However there has been some families where it has appeared that there was more of an incidence then the rest of the population.  This has cause concern for many parents, wondering if a sibling might also have a significant hemangioma.

First lets go over some basic terminology:

Congenital- simply means you were born with it.  This does not necessarily mean that it is inherited for that it was passed down from your parents.

Genetic:- when this term is used it may mean that there is an inheritance pattern but it may also simply mean that a mutation or change in the gene occurred randomly.

Inherited- this is the term that when used is meant that there is a known inherited link in a family.  There are many diseases that run in families, that there is a genetic cause that is passed down.

This is an over simplification of things but it will help you keep things straight.

In vascular anomalies we have two main groups.  Tumors and Malformations. 

The most common benign vascular tumor is the Infantile Hemangioma.  It is this lesion that primarily occurs randomly.  There is also the Congenital Hemangioma either the RICH or NICH forms.  These are less common and while the child is born with a fully formed hemangioma it is not known to be inherited. 

There are many types of vascular malformations.  Malformations may occur in the veins, arteries, smaller vessels and even the lymphatic vessels. 

Scientists have identified Genes and markers associated with malformations and hemangiomas.  They have been able to test for the presence of the genes and markers to help distinguish between the types of anomalies. 

MOST vascular anomalies are considered non-hereditary.  Through the detailed analysis they have discovered inheritance forms of some vascular anomalies.  They have identified mutations in genes that have cause familial malformations in RARE cases.

*Tie-2 gene (angiopoietin receptor): in mucocutaneous venous malformations (VMCM0

*Glomulin: in glomuvenous malformations (GVM)

*RASA1: in campllary malformations-arteriovenous malformations (CM-AVM)

The identification of these genes has allowed for more accurate and precise diagnosis, differential diagnosis, evaluation of variability in patients with known mutations and the study of treatments in identified patients.  Identification of these genes will allow the clinician to determine the type of vascular anomaly and differentiate between malformation and tumor.

In infantile hemangioma there was an identified gene in one family that appeared in the  published work of Doug Marchuk at Duke University.  There have also been identified biomarks that have helped researchers understand the pathogenesis of hemangioma and to distinguish between infantile hemangioma/congenital hemangioma and malformations.  At this time hemangioma is still primarily considered to be occurring sporadically.

References:

Vikkula, M;  Pathogenesis and Genetics of Vascular Anomalies, Ann Chir Plast Esthet, 2006 Aug-oct 51(4-5) .

Nauyen, VA; Kutzner, H; Furhapter, C; tzankov, A; Sepp, N, Infantile hemangioma is porliferation of LYVE-1-Negative blood endothelial cells without lymphatic competence, Modern Pathology, 2006 Feb:192(2):291-8

Mulliken, John, Enjolras, Odile, Congenital Hemangioma and Infantile Hemangioma: missing links.  Journal of American Academy of Dermatology, July 2004; (875-881)

Karla

Brooklyn’s Best Ball Golf Tournament

 

Thank you to Paul and Shannon for the Brooklyn’s Best Golf

Outing that supported NOVA. The money is being used for the

2012 NOVA Family Conference.

 

Update on Research Studies-

There are several new studies at the NIH for Vascular Anomalies.  These are open studies and they are recruiting currently.  NOVA is not directly affiliated or benefiting from any of these studies.  We provide this information as a resource only.

1.  Study to Demonstrate the Efficacy and Safety of Propranolol Oral Solution in Infants With Proliferating Infantile Hemangiomas Requiring Systemic Therapy (HEMANGIOL) http://clinicaltrials.gov/ct2/show/study/NCT01056341?cond=%22Hemangioma%22&rank=7&show_locs=Y#locn 

2.  Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies http://clinicaltrials.gov/ct2/show/NCT00975819?spons=%22Children%27s+Hospital+Medical+Center%2C+Cincinnati%22&spons_ex=Y&rank=27 

3.  Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) http://clinicaltrials.gov/ct2/show/NCT01016756?cond=%22Hemangioma%22&rank=27

 

For more information follow the links to the study information.

 

New video collection of hemangioma

There is a great new website with a collection of videos on hemangioma.   

http://wn.com/Hemangiomas

PHACE Registry- A message from Dr. Metry

I hope this note finds everyone well! I am writing on behalf of the PHACE Registry with hope that you might consider enrolling your child. Registry data is proving to be an invaluable tool for PHACE research….we are about to begin a parent-inspired study to look at the migraine-like headaches known to occur in PHACE. We would love to include your child’s information in this and other studies!

We do our absolute best to ensure that your child’s identity is kept strictly confidential.

Enrollment in the Registry is straightforward and involves signing the consent form, completing a questionnaire and submitting a photograph of your child’s hemangioma. We can send you the information over email or by mail with an enclosed paid return envelope, whichever is most convenient for you.

Thank you so much for considering. If you can please respond with your preferred email or mailing address, or let me know if you would prefer not to enroll your child at this time, I would be most appreciative. If you have any questions whatsoever about the registry, please don’t hesitate to ask.

Warmest regards,

Denise Metry, MD
Associate Professor of Dermatology and Pediatrics
Baylor College of Medicine
Chief, Dermatology Service
Texas Children’s Hospital
Office: 832-822-3718

http://www.texaschildrens.org/carecenters/Dermatology/Phace.aspx

Blog Rules and Use

NOVA operates a public blog and message forums for purpose of  the exchange of information. The blog and forums can be viewed by all. The blog and forums are not intended to be used as a replacement for professional medical information and advice.  NOVA encourages all users to seek the medical advice from a physician experienced in the diagnosis and treatment of vascular anomalies. 

 

The NOVA Message Blog and NOVA Message Forums are administered by the NOVA Board of Directors and are moderated by Karla Hall, Executive Director of NOVA. There are no conflicts of interest to report for our moderator.

 

 

 All users must register with a valid user name and email address.  User Names do not have to be real names.  Users may elect to keep email and identity private from other users.  Users may delete or modify their own postings/comments at any time.  In accordance with the NOVA confidentiality policy (http://www.novanews.org/about-nova  ),  NOVA Administrators, Moderators or representatives will maintain patient confidentiality of all users.  We will not publish identifiable information unless written authorization is given.  NOVA can not maintain confidentiality of users if users post identifiable information in their own postings.  For confidential correspondence with NOVA please email us at support@mail.novanews.org.

 

When posting information that is not based on personal experience, please provide references/citations.  (journal sources, web sites or other sources of information)

Users to the Blog and Forms must to the best of their ability post true and accurate information.  We request all users to refrain from “doctor bashing” on our forms.

 

All postings containing links, banners, information about products and services will be reviewed by the moderator for accuracy and content. Only products or services related to health and vascular anomalies will be allowed. Any posting about a service or product must receive prior permission from the NOVA Board of Directors.  Postings that did not receive prior approval will be deleted without notice. 

 

 

Comments on the Blog will be approved by the moderator and then allowed to be posted.  The moderator views daily.  Questions posted on the blog or the forums of a medical nature will be forwarded to the NOVA Medical Director or NOVA Medical Advisors.  Replies will include the name and credentials of responder.  Any medical professional that is a blog or forum user must clearly identify themselves and provide credentials.  All blog and forum users must behave with respect and honesty.  No profanity or obscenity is allowed.  Biological terminology in a medical context will not be considered profane or obscene. NO solicitation is allowed.  Violators will be warned via email one time only.  Further abuse will result in a banning form use.  All banning will be initiated by the Moderator and approved by the NOVA Board of Directors.  Blog comments of a solicitous nature will be denied permission to post.

revised 9/26/2010

PHACE Syndrome: the Families, the Physicians, and the Facts

PHACEing the Future

 

 

 

 

 

 

 

This conference is sponsored by: Children’s Hospital of Wisconsin, Medical College of Wisconsin, the National Organization of Vascular Anomalies, and HIG (Hemangioma Investigator Group)

  The Second PHACE family Conference was hosted in Milwaukee, Wisconsin September 17-18 and was preceded by a multi-center Research Symposium.  The conference was a great success. 

 

NOVA wishes to thank all the speakers and panelists for their support of the conference and for their dedication to the field.  Denise Adams, MD - University of Cincinnati College of Medicine, Cincinnati Children’s Hospital, Beth Drolet, MD – Medical College of Wisconsin, Children’s Hospital of Wisconsin, Ilona Frieden, MD - University of California, San Francisco

Maria Garzon, MD – Columbia University, Morgan Stanley Hospital, Karla Hall – Executive Director NOVA, Christopher Hess, MD, PhD – University of California, San Francisco

Jennifer Hoag, PhD - Medical College of Wisconsin, Children’s Hospital of Wisconsin, Jensen, John, MD - Medical College of Wisconsin, Children’s Hospital of Wisconsin, Craig Johnson, DO – Medical College of Wisconsin, Children’s Hospital of Wisconsin, Patricia Marik, Psy D - Medical College of Wisconsin, Children’s Hospital of Wisconsin, Denise Metry, MD - Baylor College of Medicine, Texas Children’s Hospital, Orbach, Darren, MD, PhD – Harvard Medical School, Children’s Hospital Boston, Dawn Siegel, MD – Medical College of Wisconsin, Children’s Hospital of Wisconsin

 

Special Thanks to: Peggy Troy, RN, MSN, President and CEO Children’s Hospital and Health System, Millwaukee Wisconsin. Adrian Baylis, PhD, CCC/SLP, Marcia Seefeldt, Children’s Hospital of Wisconsin, Jennefer Lehman, Children’s Hospital of Wisconsin and all the Volunteers that made this weekend a wonderful experience.

 

 

 

 

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PHACEing the Future: these children make the future bright!

 

 

Vascular Anomaly Treatment Centers

When looking for a physician to manage and treat, hemangioma, vascular malformation, PWS, KT, PHACES, and other vascular anomalies, there are several key things to consider. Whether you choose a large medical center, university based center or a private practice physician the center should offer a comprehensive multidisciplinary approach to treatment. The center should have a physician staff with experience, dedication and interest in the diagnosis and current treatment modalities available. There should be coordination with a variety of support services and scientific research labs. Establish financial aspects of the treatment including insurance and payment plans. Patients need to determine the philosophy in the treatment of vascular anomalies used at the clinic and evaluate if the specific center is the best match for their specific diagnosis.

Ideally a Vascular Anomaly Treatment Center would offer a comprehensive and multidisciplinary group from the following medical disciplines.

* Dermatology * Plastic surgery * ENT (otolaryngology) * Surgery * Hematology/Oncology * Dental/Periodontal * Pediatrics * Psychology/Social Services * Radiology ** Neurology/neurosurgery ** Ophthalmology ** Orthopedics

** denotes a medical discipline that is available for specific cases requiring the area of expertise

While large medical centers and university based hospital centers would have direct access to all of these disciplines there are many smaller clinics and private practice physicians that offer excellent medical care that refers patients and consults with the larger centers for complex issues.

More important then the size of the clinic; is the program should have a dedication, interest and physicians experienced in the diagnosis and treatment of vascular anomalies and the syndromes associated with these lesions. The center should be apprised of current terminology and new approaches to the management of vascular anomalies. Physicians should be board certified and have completed a Fellowship following their residency that included training in the management of vascular anomalies. Not all residency programs include training in hemanigoma and vascular malformation. In addition physicians can receive continuing education in vascular anomalies through programs offered by the International Society for Vascular Anomaly Physicians. (IVSAP)

In addition to the physicians the VAC should offer access to a variety of support services for patients and families. These services include patient advocacy, social services, patient education materials and non-profit organizations. Many VAC are coordinated by a Nurse manager assigned to the program. The nurse manager is a vital part of the clinic. The nurse manager assists the patient and family with education about diagnosis and treatment, answers questions about procedures and post-operative care and serves as a liaison between the center and the other support services.

There are several philosophies to the treatment of vascular anomalies. Some centers are conservative and prefer a careful observation of diagnosed infants with vascular anomalies and others offer early and aggressive management with a variety of treatment modalities. Today treatments available for vascular anomalies and the related syndromes include medical management, laser treatment, surgery, scelerotherapy and physical therapy procedures. A VAC should include physicians experienced in these treatment options and specifically how they are used to manage vascular anomalies. Since hemangioma and vascular malformations vary from patient to patient the treatment philosophy employed by the center should offer individualized treatment plans based on the size, location, complexities and potential for complications for the patient.

Many centers are affiliated with or collaborated on scientific research in order to understand the biology of vascular anomalies and to modify and improve treatments currently used. The National Institute of Health and other private groups offer grant funding for research. Some clinics collaborate with the university based research labs providing lab specimens and data for the research. Collaborative research allows the physicians in private practice, small clinics or in the large centers to all be involved in the large grant funded research projects. There are many excellent clinics that are not directly involved with research, it is important that these facilities are apprised of the new approaches and methods used in the treatment of vascular anomalies that come from the research. These studies are published in the peer review medical journals.

Once a VAC is identified, the experience and specialty of the physician is considered by the patient or family for managing their individual hemangioma or vascular malformation and the availability of support services are incorporated into the treatment plan the patient and family should consider several questions before making their final decision.

• Does the Center offer a variety of treatment modalities?
• Does the Center provide post surgical support and direction?
• What is the complete treatment plan and expected time line for treatment?
• What type of surgical or laser techniques will be used to manage this patient?
• Will prosthetics be used and are they directly available from the center?
• Can the patient be monitored by the local primary care doctor for lab work, blood pressure and other routine testing in between visits to the VAC?
• Are there other parents/patients of the VAC available to talk to prior to treatment?
• What form of payment does the VAC accept?
• Which Insurance Companies do they participate with?
• Does the VAC offer a payment plan for cash patients?
• Will the VAC assist with insurance appeals?

Choosing a physician or team of physicians to manage and treat a vascular anomaly is important for the overall success and satisfaction of the patient. Considering the medical disciplines needed and provided for care, treatment methods used, support services offered, philosophies employed in treatment and overall individualized treatment offered will increase patient satisfaction.

 

This post is now closed: no comments are allowed.

NOVA PROVIDES THIS INFORMATION TO FAMILIES AS A RESOURCE. IT IS NOT INTENDED TO ENGAGE IN THE PRACTICE OF MEDICINE OR TO REPLACE THE PHYSICIAN. NOVA DOES NOT CLAIM TO HAVE MEDICAL KNOWLEDGE. NOVA DOES NOT ENDORSE ANY PARTICULAR PHYSICIAN, TREATING FACILITY OR TREATMENT PROTOCAL. IN ALL CASES NOVA AND ITS BOARD OF DIRECTORS RECOMMENDS THAT YOU SEEK THE OPINION OF A PHYSICIAN EXPERIENCED IN THE MANAGEMENT OF HEMANGIOMAS AND VASCULAR MALFORMATIONS. 

Revised 5/2011

Son Pham

Son Pham is in Boston today having his final surgery today:

Olwyn writes: