… my life if nothing else is a journey!

The Journey Begins

I’m looking forward to writing and the conversations it brings.  

Do forgive my known weakness in grammar.  Praise be to the spell checker, may it never let me down!  I don’t have an Editor on staff, so please feel free to step in and offer corrections or changes.  I take no offense to complaints of voice, suicide by comma, or any other matter pertaining to construction or form.

Strength through Virtue!  This was the motto of one of the centuries old Lee Clans of Ireland.  I like it!  I strive to live up to it. 

I look forward to hearing from you.  One point of personal favor;  well, … at least one, it’s best that characterizations and twitter-class responses be saved for your favorite public wall.  Thank you in advance for thoughtful consideration.

Time to write.  Time to read.  On to my personal journal.

 

… why am I doing this journal you ask?

… Here is to a long life and life-long learning.
… Here is to expecting and honoring the antithesis.

Every now and then you read something that challenges your understandings and absent rigidity of thought your preconceived notions. I think it a benefit to friend, or simply those with a passing interest, to write about these as I’m sure many fall into the same arena as I. And, why not share!

Brother Edward, a passionate thinker and teacher introduced me to critical thinking. He once said that all knowledge went through a regular and common metamorphosis or cycle of development, of evolution if you will. This process is an ongoing cycle of thesis, antithesis, and thesis. Little did I understand then, but now adopt, that this progressive process is far and away the most constructive and timely habit of critical thinking that is practiced by humanity.

Those who profess the antagonistic approach, the one and only truth approach are fooled by claims that science comes to proven final truths; therefore, they think that truth is or must be an exclusive captive of a puritanical adherence to one scientific outcome. Were this true, then Einstein would not have challenged Newton, nor approved of those who now challenge the man himself. Think! We once knew with certainty that the Atom was the smallest component of life, now we see others.

We need to have the courage to hear and seriously consider counter-thought and submit it to testing to determine if it rises to the level of legitimate antithesis. If it should, we then need to agree we were not of folly to have believed otherwise, but merely an honest seeker of truth. To this end, I will write. I will encourage counter-thought. I will examine and re-examine. I will acknowledge when conversation and investigation compels me to rewrite. This I shall do to the day I die and be grateful that learning is a life long event and surely when it stops, I stop.

… klippel who & port wine stain what?

Was your beautiful child born with muted red and deep purple stains on their skin?  If so, are you noticing patches of color that vary in size or maybe even extend from head to toe?  When you asked the doctor, did he/she likely described these mosaics as Port Wine Stains, Vascular Birthmarks, Birthmarks or Hemangiomas?  Did your doctor give you a preliminary or speculative diagnosis, say Klippel-Trenaunay Syndrome.  In any case, I’m sure your level of curiosity is heightened because you don’t recall seeing other babies with similar anomalies.

I understand your interest.  If you stumble around my journal here, you’ll see that I have a deeply personal interest in helping kids and parents with Klippel-Trenaunay Syndrome, including Port Wine Stains a common manifestation of this congenital aberration  Born in 1954, I too had a similar mosaic of color.  My parents were equally curious.  In their day access to quality medical information about babies like us meant they were given wrong information about me. 

Good news.  Today you have access to very informed doctors these days, albeit they’re only a handful, but they’re outstanding.  Also, you will soon meet street-level friends in the World Community.  It’s a virtual (in every sense of the word) neighborhood of soon-to-be friends.  These are KT-kids, as well as their parents, who have lived through the days when little was known and therefore are motivated and happy to share the things they’ve learned along the way. 

You can also find many wonderful resources listed here as various links to support groups and doctors.  A resource created by myself with the contributions of many is made available at no charge to the Klippel-Trenaunay community – look for the copyrighted name K-T Connections.

Please count me as one of your new K-T friends

You’ll soon realize that you’re raising a her.  Your child will show you strength of character many people will never understand and evidence of that strength will be your baby passing off the difficult as routine.  I respectfully submit that given a chance at a healthy and balanced childhood your baby will see themself as simply another kid in the neighborhood.  Yes, of course there are things they will do and things they will adopt to better fit into the picture, but what kid doesn’t do that anyway.  Quite frankly, friends and strangers rarely took notice or cared to call me out on my funny looking legs.  I kid you not – I was regularly ridiculed about my big ears and big smile.  I was all teeth and ears.  These more regular distractions left m  e little time to over worry about having painted legs.

If you haven’t already, please seek out Vascular Surgeons and Intervention Radiologists who advertise Klippel-Trenaunay Syndrome in their Resume’.  The K-T Connections directory may help you get started on this endeavor.  As a general rule, avoid Dermatologists.  I mean these talented folks no disrespect, but their expertise goes basically skin deep (humor intended) and you’ll learn soon enough that Klippel-Trenaunay is a deeply systemic, deeply complex, multi-system disorder.

Congratulations on parenthood.  Feel free to ask away.

– – – – – – – – – –

KTS kids ©2011
K-T kids ©2011

… ” we-Willi” likes it!

 

Klippel Trenaunay Support Group [k-t.org]

… the first-in-the-world Klippel-Trenaunay Syndrome Support Group
… the pioneers of KT Suport Groups

  • Bi-annual Conference (July 2012): Rochester, MN / Open to All / Families Welcome and Encouraged / Medical Presentations by K-T experienced doctors / K-T Teen Groups / K-T Parent Groups / Coordinated with the Mayo Clinic which provides consultation and diagnostic appointments, at your option
  • General Links

    Hospitals, Clinics and Institutions of Care

    Research & Papers

    K-T Connections: Home Page

    .

    Touch or click the links to access city views of the K-T Connections directory

     … links by City

    Boston, Ma

    Cincinnati, Oh

    Houston, Ca

    Los Angeles, Ca

    New York, Ny

    Omaha, Ne

    Portland, Oe

    Rochester, Mn

    San Diego, Ca

     

    Please Read:

    A huge thank you to the K-T Support Community for their unselfish participation in this directory and for being an important part of my personal safety net.  Keep the recommendations coming!  Please remember to instruct me on your reference regarding your approval to include your name as the source.  If you elect not to approve, this is quite OK, I’ll simply acknowledge the referral coming from the K-T Support Community. 

    The goal of this publication is to provide K-T Kids and K-T Parents a starting place.  I’m not suggesting that there are no other qualified K-T experienced facilities or doctors than those listed here.  Simply put, I do not have the personal resources to discover and list every doctor with K-T experience in the world.  Your own personal research is always warranted, even when considering the doctors listed here. 

    Please don’t infer depth or breadth of experience or accessible care based on order of placement here.  I’m working off a list and publishing names, etc. as quickly as time allows.

    No fees are charged to access this directory and no monies have been or will be taken to obtain a spot in this directory.  Born affected by Klippel-Trenaunay Syndrome, I’m a 15-year volunteer dedicated to the care and education of K-T Kids and K-T Parents.  The information compiled here is significantly the result and contribution of many K-T Parents and K-T Kids who have provided personal referrals knowing these endeavors will help new parents and folks born with K-T to locate resources that have experience with K-T Syndrome.  This in the aggregate is their product. 

    I continue to do personal research seeking out resources, particularly in cities not currently listed here, and especially those that have a deep commitment to our interests.

    Many, not all, of the facilities and doctors listed in this journal are long-standing pioneers in the diagnosis and management of Klippel-Trenaunay Syndrome (K-T).  The pioneers typically work at legacy medical institutions and have substantial experience with K-T both in terms of depth and complexity of research and care and large number of patients.  Many of the pioneering or legacy facilities and doctors are reported to be open to consultation with your local doctor. Hopefully, if there were that need, the local doctors with less experience would be willing to contact those with more experience for consultation.

    I’m not a member of a private club, nor do I feel comfortable suggesting that K-T professionals must come from some exclusive medical club.  There are facilities and doctors listed here that may not have the same breadth and depth of experience as the pioneers.  These professionals have been referred by members of the Klippel-Trenaunay Support Group.  In that not all members are able to travel to legacy facilities and doctors, we include these because our members have found these entities to be reasonably informed, or willing to learn about K-T, as well as having given the referring party a satisfactory experience.

    NO CERTIFICATIONS of the qualifications of listed facilities and doctors are made here.  Again, due diligence is required on your part before seeking professional attention from any of these entities. It all rests with you.  You’re encouraged to post inquiries to K-T Forums asking their members if they have any experience with these facilities and doctors.

    – – – – – – – – – –

    Note:  For additional connections please contact Mellenee Finger, the manager of K-T.ORG.  This organization is the pioneer of Klippel-Trenaunay Support Group.  First among equals it organized in 1986 for the express purpose of challenging the best-of-the-best medical providers to offer innovative care for K-T Syndrome kids and adults.  It is an open membership group that has four points of light – (1) The Bi-Annual Klippel-Trenaunay Syndrome Conference , (2) The Email K-T Support Group, (3) The Facebook K-T Support Group (K-T.ORG), and (4) The classically delivered Website Support Group (K-T.ORG).

     

    K-T Connections: Cincinnatti, Oh

    Cincinnati, Ohio 

    Denise Adams
    • Inpatient Clinical Director, Division of Hematology/Oncology Medical
    • Director, Comprehensive Hemangiomas and Vascular Malformation Clinic
    • Associate Professor of Clinical Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children’s Hospital Medical Center, Division of Hematology-Oncology, Hemangiomas and Vascular Malformations Clinic, Cincinnati, OH

     

    Amy B. Reed, MD, FACS
    • Assistant Professor of Surgery, Division of Vascular Surgery in Cincinnati
    • Director-Vascular Surgery Fellowship Program, University of Cincinnati, School of Medicine, Department of Surgery
    • UC Physicians at University Pointe, 7700 University Court, Suite 2000, West Chester, Ohio 45069
    • UC Physicians Medical Arts Building, 222 Piedmont Avenue, Suite 7000, Cincinnati, OH 45219

     

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Boston, Ma

    Boston, MA

    Steven J. Fishman, MD
    [ K-T Community Referral ]
    • Co-Director, Vascular Anomalies Center
    • Stuart and Jane Weitzman Family Chair in Surgery Senior Associate in Surgery
    • Associate Professor, Harvard Medical School
    • Children’s Hospital Boston, Department of Surgery
    • 300 Longwood Ave, Fegan 3, Boston, MA 02115-5724

    – – – – – – – – – –

    [  Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    *  KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Rochester, Mn

    Rochester, MN 

    David J. Driscoll, MD
    Professor of Pediatrics
    Pediatric Cardiology
    Mayo Clinic
    200 First St. S.W.,
    Rochester, MN 55905

     

    Peter Gloviczki, MD
    Director, Gonda Vascular Center
    Chair, Vascular Surgery; Professor of Surgery
    Mayo Clinic
    200 First St. S.W.,
    Rochester, MN 55905

     

    Anthony Stans, MD
    Assistant Professor of Orthopedics
    Mayo Clinic
    200 First St. S.W.,
    Rochester, MN 55905

     

    William Shaughnessy, MD
    Associate Professor of Orthopedics
    Mayo Clinic
    200 First St. S.W.
    Rochester, MN 55905

     

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: San Diego, Ca

    San Diego, Ca

    Ralph Dilly, MD
    [ K-T Kid Referral by: William Anton Lee ]
    • Division Head, Vascular Surgery
    • Chief of Staff, GreenHospital
    • Vice Chairman, Department of Surgery, Scripps Clinic Medical Group
    • Surgeon-in-Chief, Scripps Green Hospital
    • Joined Scripps Clinic Medical Group: 1978
    • Scripps Clinic Torrey Pines
    •  10666 N Torrey Pines Rd SW210 0
    • La Jolla, CA 92037
    • Phone: (858) 554-8988

     – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Houston, Tx

    Houston, Texas 

    Patricia Burrows, MD
    • Scientific Advisor and Chief of Service, Vascular Anomaly Center- Interventional Radiology
    • Texas Children’s Hospital and Baylor School of Medicine
    • Department of Diagnostic Imaging, Interventional Radiology Service
    • 6621 Fannin St, 1st floor, West Tower, MC 2-2526
    • Houston, TX 77030-2303

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: New York, Ny

    New York, New York

    Jessica J. Kandel, MD
    • Irving Assistant Professor of Surgery, Division of Pediatric Surgery
      New York-Presbyterian, Morgan Stanley Children’s Hospital
    • Columbia University Medical Center
    • Pediatric Surgery, Vascular Anomalies Service
    • North Room 214, 3959 Broadway, New York, NY 10032

     

    Andrei Rebarber, MD
    • Clinical Assistant Professor, Department of Obstetrics and Gynecology
    • New York University, Maternal-Fetal Medicine
    • Skirball Institute, 7, 7N
    • 540 First Avenue, New York, NY, 10016

     

    Francine Blei, MD
    • Professor, Departments of Pediatrics (Hematology-Fac) and Surgery (Plastic Surgery)
    • New York University, Langone Medical Center
    • The Stephen D. Hassenfeld Children’s Center for Cancer and Blood Disorders
    • 160 E. 32nd St, 2nd Floor, New York, NY, 10016

     

    Ashley S. Roman, MD
    • Assistant Professor, Department of Obstetrics and Gynecology
    • New York University, Langone Medical Center
    • 550 First Avenue, New York, NY 10016

     

    [PIC]

    Daniel F. Roshan, MD
    • Assistant Professor, Department of Obstetrics and Gynecology
    • New York University, Langone Medical Center
    • 213 Madison Ave, (36th street), Suite 1A, New York, NY, 10016

     

    Robert Rosen, MD
    • Co-Director, Division of Peripheral & Endovascular Intervention, Lenox Hill Hospital, Department of Interventional Cardiology
    • 130 East 77th Street, 9th floor, New York, NY 10021

     

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Los Angeles, Ca

    Los Angeles, California 

    Dean Anselmo, MD
    • Pediatric Surgery
    • Co-Director of the Vascular Anomalies Clinic
    • Children’s Hospital of Los Angeles
    • Pediatric Surgery #100, Los Angeles, CA 90027

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Omaha, Ne

    Omaha, Nebraska 

    Glen Ginsburg, MD
    • Associate Professor of Orthopaedic Surgery, Department of Orthopaedic Surgery
    • (1) University of Nebraska Medical Center
    • 981080 Nebraska Medical Center, Omaha, NE 68198-1080
    • (2) Pediatric Orthopaedic Services
    • 10506 Burt Circle, Omaha, NE 69114

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    K-T Connections: Portland, Or

    Portland, Oregon 

    Alfons L. Krol, MD, FRCPC
     (From General Research) 
    • Director of Pediatric Dermatology at OHSU Doernbecher Children’s Hospital
    • Oregon Health and Science University, Doernbecher Children’s Hospital
    • 3181 SW Sam Jackson Park Rd., Portland, OR 97239

    – – – – – – – – – –

    [ Information herein is proprietary and may not be used, copied, or otherwise lifted without prior written approval * ]

    • Updates and additions to this directory are welcome.
    • If you wish to be listed as referral source for a listed Connection please let us know.
    • Comments about a listed Connection are welcome, please keep these professionally anchored.
    • Connections are not listed in any particular order and not intended to infer preference or order of recommendation.
    • Connections may be marked as personal referals from K-T kids* or from our General Research.
    • Home Page and Listing Guidelines for : K-T Connections *

    – – – – – – – – –

    * KTS Connections, K-TS Connections, K-T Connections and like derivatives for and associated with Klippel-Trenaunay Syndrome Connections directories and referral services for medical, non-medical and other professional and service endeavors. ©2011 ®2011

     

    … say what?

    [The human mind is unable to conceive of the four dimensions, so how can it conceive of a God, before whom a thousand years and a thousand dimensions are as one?  [No matter] I want to know how God created this world.  I am not interested in this or that phenomenon, in the spectrum of this or that element.  I want to know his thoughts. What I see in Nature is a magnificent structure that we can comprehend only very imperfectly, and that must fill a thinking person with a feeling of humility.  This is a genuinely religious feeling that has nothing to do with mysticism [religion for the sake of religion].  Science without religion is lame; religion without science is blind.  My God transcends a personal God avoiding dogma and theology and favoring the meaningful unity of the natural and the spiritual.  What separates me from most so-called atheists is a feeling of utter humility toward the unattainable secrets of the harmony of the cosmos.  In the view of such harmony in the cosmos which I, with my limited human mind, am able to recognize, there are yet people who say there is no God.  [Do remember] when the answer is simple, God is speaking.]

    The aforementioned piece is a “voice” from the grave.  It is a collection of thoughts Albert Einstein penned.  Yes, Einstein. He may unwitting be the father of “Intellectual Design”; that is, before it was hijacked by modern-day “Institutionalists” who are taking a page from the Pharisees of old Jerusalem.  I bet you thought Einstein was an atheist.  An even better bet is that you believe the God of our American founding fathers was uniformly the popular construction of the Christian God.  Are you curious?  Start digging and take time to read original material not some mouthpieces’ version of history.

    – – – – – – – – – –

    [ Re-posted here from a previous journal entry.  Why?  Because that’s what sticky posts are for.  Think of the items at this level as a type of favorites bar.  Being here means I revisit this article from time to time, a bit of self-imposed reflection.  That could be good or bad depending on how much I obsess over the pieces I pull up to this level.  My mantra is Thesis – Antithesis – Thesis.  This is a predicate for mental evolution taught us young fools at Christian Brothers High School, Sacramento, CA, by a great man, Brother Edward.  I hope you find this sticky post deserving of a second look.  I’ll be back reading and reconsidering it in due time.  If others have chosen to comment, these can be accessed by clicking or tapping on the above link – “previous journal entry”. ] 

    [ Yes, that’s a picture of Plato at the top of the page; more properly it’s his bust.  It just felt right to have Plato represent.  Were he alive today he just might be asking how much have we forgotten and how much is there still to learn. ]

    Cause of Sturge-Weber Syndrome

    [William Anton Lee]


    Good news. Although the specific use of the label Port Wine Stain in this medical article continues the conversation about its less than definitive use as those of us with Klippel-Trenaunay Syndrome see it used to describe one of our many conditions (Capillary Malformations). As we know K-T Syndrome is caused by a PIK3CA Gene mutation, a different genetic trigger.

    http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

     

    http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

     

    https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome


    Here are a couple of Klippel-Trenaunay Syndrome genetic references:

    https://ghr.nlm.nih.gov/gene/PIK3CA


    https://www.ncbi.nlm.nih.gov/pubmed/25557259


    Study Published … PIK3CA Genetic Mutation Linked to K-T Syndrome and Lymphatic Malformation (LM)

    [William Anton Lee]

    Hello my friends,

    You have been following my journey with a rare syndrome (disease). I can’t begin to tell you how much strength I gather from your notes, “Likes”, and support. I promised to keep you updated as special events and news come about. This is one of those moments. The big genetic research study findings are now publicly reported.

    I wrote last summer about Dr. Warman speaking at the K-T Support Group Conference about my diagnosed medical condition now having a genetic link.  This link was identified as one of several now to be linked to a pik3ca mutation. The whole subject of genetics is so very complicated, so doing a Google search and then reading about the various sets of such mutations is a daunting task. To say my condition is a “pik3ca mutation” is to open a can of worms. It would be an over simplification. Not all pik3ca mutations cause the same medical condition. That said how wonderful is it that we now at least know what general room we are in. This is a huge advance and leads us all that much closer to future treatment and care options and protocols. At the time Dr. Warman (the research team) was not yet published. He was kind enough to share research and findings from a big study he and a team of doctors and scientists were doing. We got a great early report.

    The study findings are now published. I guess you could say the word is now official. The study report is titled — Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA. You can find the abstract on PubMed @ http://www.ncbi.nlm.nih.gov/pubmed/25681199. I can’t wait to get the full text. This is a good time to thank my doctor and medical professional friends for being so kind and answering my repeated calls for educational help. Thank you for sharing your time and resources. Try as I might the medical journal articles have proven to be a tough read. It does get easier with each pass and with each lesson you offer. Thank you for encouraging my curiosity! Oh … I’m coming your way when the full text of this report hits my in-basket.

    A most important pause — It was 20 years ago that nascent internet search abilities helped me find www.k-t.org. I can’t begin to tell you how important this organization has been to me and so many others, including syndrome-affected and parents, wives, husbands, caregivers, family and friends of those affected by a very rare syndrome (disease). Being able to hear the doctors speak first hand to us folks, us non-medial folks, is an experience like no other. It surely is a difficult task for doctors to explain a very complicated syndrome in a manner that both respects the medical underpinnings and conveys a street-level understanding to those of us who struggle to comprehend technically difficult subject matter. I hasten to add that another aspect of being a part of a pioneering support group such as this is the chance to medically participate in on-going research. The doctor’s research continues on and we were given the opportunity to contribute samples which I hope help the research team move on down this glorious road that much more. Saving the best for last, the friendships and companionships shared by a wonderful group of folks who were thrown into a random room is remarkable.  We are an extended family of bright, curious, warm, and gifted people.

    I leave you with this quote from the study abstract on PubMed. In conclusion:

    “Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.”

    Our time truly has come … Best in life and health to us all!

    Best Regards,

    William

    The ISSVA Diagnostic Matrix / Protocol

    [william anton lee]

    ISSVA Diagnostic Matrix v2

    Hello KT Companions,

    This is the newly adopted diagnostic protocol from the ISSVA. Many of you discussed its implications in advance of largely because, in advance of the ISSVA announcement, many folks were being similarly diagnosed at Boston Children’s Hospital, Cincinnati Children’s Hospital or the Mayo Clinic (Rochester). You were bringing questions here about diagnosis using newer names or re-diagnosis from Klippel-Trenaunay Syndrome to a condition you had not heard of before.

    The new terms have been a topic of conversation many times throughout the year and even still now. We thought it would be beneficial to have a graphic at our finger tips so the KT Awareness Campaign developed the attached. Very quickly we will follow with the more detailed explanation of this chart. In the meantime, we hope this helps to explain the macro world we live in, so to speak.

    Curious? The classic Klippel-Trenaunay Syndrome diagnosis falls under the “CLVM” subclass, under Vascular Anomalies.  Please do not get to worried about labels.  Many of us who are diagnosed as having Klippel-Trenaunay Syndrome have long dealt with being variants from someone’s medical reference book. For example, we have all heard doctors insist that a “hypertrophy” component is required to be diagnosed with KT. In fact you will see language to this affect in the ISSVA notes.

    It is not lost on me that many many doctors across the world follow the original classification guidelines by doctors Klippel and Trenaunay that spoke to a combined malformation requiring 2 of 3 components from a list of capillary malformations, vascular malformations and/or hypertrophy.  My doctor does and he is a long standing Vascular Surgeon with KT experience.  Through the power of the internet we participate in many support groups throughout the world.  Interestingly, many doctors outside the USA still use the Klippel-Trenaunay-Weber Syndrome diagnostic label, especially when arteriovenous malformations are found.

    Can I make the point — Our medical diagnostic terminology is bit fluid and will likely be for quite some time. Twenty years hanging around with all of you demonstrates one thing for sure — no classic definition proposed, adopted, or used to date begins to explain the entirety of the variability we see in our population. That said, I sense that the attached ISSVA diagnostic matrix comes the closest to describing our community, especially as I look at the entirety of the Combined Vascular Malformations column.

    The follow-up ISSVA Notes which are just about ready in handout form really get into the “differential diagnosis” too. These include a laundry list of things like Parkes-Weber, Sturge-Weber, PROTEUS, CLOVES, and the like. Even more spectacular is the Genetic references tables. Powerful stuff!  If you have a desire to help as a proofer, editor, researcher, or otherwise please let me know. Plenty of work to do.

    .

    Be a Conqueror

    [william.anton.lee]

    I’m reminded today by Melissa Cruz Levinson that we, those born with sweet surprises from Mother Nature, can sometimes be our own worst enemies. Melissa observed that so many times where discrimination is concerned, regardless of its aims; it is exacerbated by the very people that it affects the most.  So too is my random congenital challenge.

    Melissa’s reflections and words reminded me that I have been working to make constructive and noticeable leaps forward for our KT-community, a family of like affected companions and their caretakers, family and friends.  She further cautioned me to not regress.  Melissa reminded me that I am hopeful. Most assuredly our efforts have required and will continue to require a vividly different approach; breakout kind of stuff.

    Yes, Melissa I wholeheartedly agree.

    Each of us can bring more awareness to our disabilities or any disability for that matter?  We can make a choice. Melissa proffered a ‘choice challenge’; as I read it, it is to choose between consciously and unescapably being defeated by the very thing we struggle against [not allowing our disability to define us] or reaching deep down and finding the courage to speak frankly and conquer the world regardless of circumstances of birth.  It is to choose to take a different stance than what might be conventional or our first inclination.

    Yes!  Yes!  Yes!

    Be a Conqueror!  Be a Super Hero!  Be an Innovator!  Be an Inspiration!  Make a difference!

    Melissa, you wonderful soul and conqueror, thank you!

    veins … my understanding

    [william.anton.lee]

    Veins are not Capillaries, nor are they Arterioles, nor are they Arteries. Now that sounds rather obvious and silly to say, but please bear with me. I’m working on a better personal understanding of Klippel-Trenaunay Syndrome so challenging old memories from high school biology seems like a decent starting point.

    I think of veins as our primary blood reservoir. This reservoir regularly contains about 60% of our total blood volume when at rest. That word “at rest” is an important concept, so much so that I likely will mention it repeatedly in this and other queries. I think of the circulatory system in a resting state first and then build on it to establish capacities and operational changes from that conceptual point. As pertains to Arteries, Veins are comparatively larger. Veins are also comparatively more pliable or stretchable than the typical artery. Looking at the physical design and engineering of these two components of our vascular system helps make these distinctions a lot clearer for me. Another distinction is the remarkable difference in the mass of the smooth muscle layer in each.

    Wait a moment! Arteries and veins are muscles? Wow, now that is a point I did not recall from high school biology. As I revisited the books, I learned it is an amazing aspect in the fundamental understanding of how blood gets around in our body. I bet most folks think the heart does all or the majority of the labor. A vascular surgeon reported to me years ago that if we relied on the heart alone to pump blood out and back, it would fail from exhaustion. I let his explanation drift right on by not thinking to ask him to explain all the systems that worked cooperatively with the heart. Ok, getting back on point. What else works with the heart to pump blood through our bodies? In line after our heart are artery muscles and then arterioles muscles. At any point in time about 30% of our blood supply is in the latter two vessels.

    Yahoo! Something I did remember. The Arterioles which are the smaller extensions of our Arteries connect to our Capillaries. I recall these target points are actually more like beds of porous vessels which surround muscles and internal organs and feed these critical body parts. What I did not realize is that our Capillaries operate different than arteries in a very key way. These vessels do not have a smooth muscle layer. In a way they are more like sponges packed around the objects they feed receiving pumped blood. Feeding is an interesting process in and of itself – some material passes through tiny feeding holes in the Capillaries while others go through a breakdown process in the Capillaries and then move through vessel walls at a molecular level.

    What I found noteworthy was this. The pumping process stops here. This begs the question – how is it that the Capillaries don’t burst from being over filled. And, if the pumping action stops here how does blood get out of the Capillary beds. I think the best answer to this is to think of the balance of our vascular system as a network of venous tubes that become the delivery system for a couple of mechanical systems that pull the blood back to the heart. So, here we go! If the heart had to do all the work it would fail from exhaustion. Yup, that wonderful tidbit of information from that very special vascular surgeon that treated me so many years ago. I had always thought the heart did all the work using a closed loop system and that one chamber of the heart pumped blood to my toes and the other pumped it back to my lung and heart complex.

    Oops!

    Turns out our bodies are built with several support tools which help the heart pull the blood back to the lung/heart complex, at least close enough that the heart can then pull it back into its chambers for redistribution. Nope, I haven’t forgotten the lungs which are a critical part of our biological and physiological processes. However, they really don’t have a critical role in the actual pumping and pulling of the blood. However, our Diaphragm does, as do our leg muscles. These are two huge support systems.

    So, how does this all work from here?

    As our physical activity increases, the veins are used like plumbing to move blood back to the heart. The net result is to support increased circulation. Worth noting, the veins do have smooth muscles which assist to pull blood back to the heart; however, these muscles are not near as capable as the artery muscles. How so? These venous smooth muscles are very thin and incapable of reciprocating the arterial pump. That is a point of anatomy and distinction that cannot be overlooked.

    Ok then, how does our body balance things out? How does it get our blood back to the heart?

    The primary assist for pushing blood back to the heart/lung complex is called the “skeletal muscle pump. Our Veins pass through our skeletal muscles. When we move, when physical activity occurs, the skeletal muscles squeeze our veins. This action increases our blood pressure in that section of the vein and that pressure causes our blood to move up the vein. This is a good place to recall another feature that makes veins unique — as the venous blood returns to the heart it benefits from one-way valves that insure unidirectional flow of blood. When our leg muscles constrict, this physiological change causes the upstream valve to close and the downstream valve to open. [Note: upstream means furthest from the heart] Repeated movement, called cycles of contraction and relaxation, effectively pushes blood back to the heart.

    “And that ain’t all!” While the skeletal muscle pump pushes venous blood out of the lower limbs, our breathing adds in another assist. It helps to push venous blood out of the abdomen. That mechanical action or system is called a respiratory pump. The diaphragm descends when we breathe increasing abdominal pressure. With increasing pressure in the abdomen, the resident veins are push blood back toward the heart in the same way as the veins in the skeletal muscles. From there the heart has sufficient strength and mechanical ability to manage the balance of the movement of blood through the heart and ling complex.

    The least among the group of assisting mechanisms are the smooth muscles layer of the veins. Veins are actually considered to be a blood reserve. Recalling again that 60% of our blood is contained within these vessels. They are far more stretchable than arteries to accommodate volume and volume variance. The very thin smooth muscle layer in the veins do more to manage resting blood volume and pressure than movement of blood, although a very very small amount of work in the latter function is plausible. Recall, we don’t always always move about and when we don’t the heart needs the assist, although we do constantly flex and move our muscles even when sitting. In other words, our muscle skeletal pump is working virtually all the time because we never sit motionless and motion is our primary mechanism for pushing blood out of our lower extremities.

    This is the point at which I take issue with posts in one of the KT support forums where the “constrict-dilate-dilate” theory was proffered. Recalling this theory was based on veins acting as a primary mechanical mechanism which pumps blood back to the heart (along with the heart doing its fair share of the pumping too). As I understand it, physiology/anatomy responds with a sound “no” and “no” to the aforementioned theory. Here is the fundamental physiological fact: Veins can vasoconstrict taking instructions from muscles and the like, but they do NOT do this in any sort of rhythmic way. I don’t know if this helps explain the dramatic difference in the role and function for veins versus arteries, but veins have no blood pressure to speak of!  Arteries do.  When we get blood pressure readings it is the arteries we read at the two stages. We find no such parameter with veins. KTS is triad of vascular malformations which are Venous, Lymphatic and Capillary.  When finding arterial malformations a different diagnosis is made. Reading into medical literature about the dynamics of vascular malformations in general requires culling to make sure the subject matter is about veins, lymphatic vessels and capillaries.

    I think it prudent to mention that we have one more very important assist. It is not our bodies to do, but certainly our minds can convince our bodies to take advantage of it. That assist is gravity. Wherein Klippel-Trenaunay Syndrome (and many correlated syndromes) involve venous and lymphatic malformations or anomalies, our return plumping is weak and poorly configured. In many cases we have very bizarre constructions including malfunctioning valves, missing valves, missing veins, overstretched veins, veins that may even misconnect to body parts causing all kinds of calamities. Our skeletal pumps and respiratory pumps and heart can do all the proper work, but if our venous plumbing is not right, regardless of the mix of anomalies, elevation of our lower extremities above our waste/diaphragm, and in the more severe cases, above our heart gives us a huge assist from Mother Nature. Gravity is quite capable of assisting the resting body and the ever working heart. My doctors implored me to elevate – elevate – elevate.

    Mechanical Medicine also has developed some assists. Two come to mind. First, there are prescription compression garments which help support weakened veins and lymph vessels. These garments also are engineered with what is called graduated compression which I more than imagine is designed to offer support for weakened or missing valves (the net result of both features is to move blood and lymph fluids up the leg and into areas with better natural circulation. Not to beat a dead horse, but please verify through a qualified, experienced KT Radiologist and Vascular Surgeon that you have sufficient deep vein blood flow before using these. Given you have competent flow while wearing these, by all means do it! Weakened venous vessels and valves only get worse over time and according to my doctors these do so at a remarkably accelerated pace with KTS affected folks. You can also read up on new compression machines which do lymphatic massage (and I’m more than guessing venous constriction). The idea is to help the body through external devices to push the blood back to the heart.

    While I’m here. Look into lymphatic massage my licensed lymphatic massage therapists. Regular sessions with lymphatic massage is reported to clear out malformed and/or struggling lymphatic vessels. These techniques move fluids up the body and into areas that function more regularly. I separated this out because it is a human intervention, not a machine. Me, I would prefer the human touch to the machine. However, that is purely me being a spoiled kid and probably not liking the idea of a machine working me over. Many of my KT companions report remarkable success with both of these interventions.

    I feel talked out. I bet your tired reading. I will finish with this upbeat note. Another source of external compression is swimming pools, rivers, lakes and oceans. It is physics that tells us that the deeper you go under water the more compression our body feels. Imagine that … our skeletal muscle pump gets another assist from Mother Nature. I wish I had the answer to a question that is still on my table, but I don’t as of yet. It is, “what is the compression level of water and how does it compare to mechanical compression, like from compression garments. I do know this from personal experience — swimming helps me tremendously. Ok, I don’t really swim all that well, but what I do do, when I do it, makes my legs feel great and my hourly and end of day swelling is much less. Is that a scientific study? Nope! It’s purely anecdotal. What is not anecdotal is the research that went into this article. I set out to refresh my very old memory of high school biology. I may not have read enough or properly understood what I read. To the latter please critique and correct as our KT community could use a common thread which results in accurate and helpful information about how human bodies work and why us KTS folks work so differently. I think from efforts like this we can garner reasoned and helpful regimes of care and treatment.

    There is more to come as I work to advance KT Awareness in what is our mission to spread the word throughout our wonderful KT community and for that matter those who places where we could use a big hand up from governance and worldwide community. As now, in the future, please know I am not a doctor. I am KT diagnosed and a fierce advocate. I work to share my personal experiences, but also well researched and supportable information. Whenever I fail to deliver, I wish to know. Critique is the fire that turns naivety into metaphorical diamonds.

    … KT Campaigns & Logos

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    Campaign Shirt - Frontside

    Campaign Shirt – TriColor

    Over the last several months Joshlyn Merchant has worked diligently to find KT symbols, messages, etc. that could be used to rally her community. Her community approached her about doing a walk-a-thon for her daughter. Yesterday, we posted two variations of Joshlyn’s work product. These are the “seeds” now being worked by product-professionals as they develop quality materials to advance the awareness of Klippel-Trenaunay Syndrome within our local communities.

    Campaign and personal products are in the works – items like caps & hats, polo shirts, casual shirts and t-shirts, posters, educational materials, and so on.

    Caps & Hats .triad

    Cap & Hat Logo – TriColor

    This endeavor is not for-profit; a coordinated support project for our KT family.We envision having readily available materials, products and planning guides to assist you with your local efforts. We see our efforts as supporting a grass-roots campaign consisting of local and personal efforts that bring our rare syndrome to the forefront in a hurry.

    Our KT family has the ability to collectively bring home a vital, coordinated message.

    Caps & Hats .blue

    Cap & Hat Logo – Solid

    The cornerstones of these efforts are common symbols, educational materials, and the like. You have asked, “Where are our posters”? Our response is, “Here”! We are asking you to consider Joshlyn’s work, to adopt it as our communities collective work product. We have a little time before locking in designs with professional-product developers. We are asking you to give us constructive advice pertaining to aesthetics, messages, and so on.

    Any effort like this to be successful needs grassroots support. Our efforts are self-funded at this point. The key is bringing cost-effective support tools through volume purchases and selling out these inventories.

    Tshirt Front .blue

    Campaign Shirt – Solid

    We are looking to augment the k-t.org legacy. Mellenee Finger, k-t.org, and I have spoken about our efforts in this matter. As a non-profit endeavor our initial investments are meant to start the ball rolling with the hope that future designs and product will be self-sustaining. Please join us. Let’s bring a coordinated and powerful KT message to our local communities.

    03.Tshirt.Back

    Campaign Shirt – Back Side

    Every campaign, every revolution starts with one person, one idea, and succeeds because the message resonates and a group of people engage. If your community has the desire and wherewithal to do walk-a-thons and so on, this works. We are a small community. Advancing our message necessarily means eventually getting our communities involved. If your ability to engage rests with personally wearing a cap or a shirt and giving people who ask questions an educational flyer, this works too.

    Taking the first step is always the most daunting. I thank Joshlyn for holding out her hand and encouraging us to do just that. These are baby steps. We can do this. Please join us.


    Pocket Logo .triad

    Pocket Logo – TriColor

    Pocket Logo .blue

    Pocket Logo – Solid

    Here we go …

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    Klippel-Trenaunay explained within context of other vascular anomalies and malformations.  The classification topology is yet again changed. See: https://powerpoint.office.live.com/p/PowerPointView.aspx?FBsrc=https%3A%2F%2Fwww.facebook.com%2Fdownload%2Ffile_preview.php%3Fid%3D644591128967154%26time%3D1401274535%26metadata&access_token=1009313702%3AAVIAtaWo_lAkdaejIPYtSUv2eeMyVfuKk48mPJ5ZjplILg&title=ISSVA_classification_2014_final.ppt

    <hr/>

    Understanding Chronic Pain

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    Understanding & Explaining Chronic Pain Part 1- The Spoon Theory

    Read this and weep, because in doing so your sympathetic response will be greatly understood. For my friends who live this, I’d be hard pressed to distinguish my feelings of empathy from those of love. Consider this, I love you all and hope your days get better and better.

    My friends, with a deep appreciation for your love and support, best in health and life.