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Top Community Leader List

Systemic Capillary Leak Syndrome

aporzeca

I had my first episode of what turned out to be SCLS in November 2005, and was very lucky to have survived it (though with permanent disabilities in arms and legs, and thus in hands and feet) and to have been diagnosed correctly within days.

I went on to have 2 other life- and limb-threatening episodes in April 2007 and March 2009, requiring 2+ weeks of Intensive Care hospitalization to keep my organs alive and emergency fasciotomies to preserve the muscles and nerves I still have in my extremities.

I also had 7 episodes of lesser severity (Dec. 2007, June 2008, June 2009, July 2009, September 2009, and two in November 2009), because I realized I was having them early on, which allowed me to get a massive dose of steroids (Prednisone pills and/or injections of Solu-Medrol and Albumin) that effectively stopped the capillary leak phase of SCLS.

Given the increased frequency of my episodes of SCLS, despite having taken the recommended doses of the traditional medications (e.g., Theophylline, Terbutaline and Singulair), I was given my first infusion of IVIG in November 2009 and have had monthly infusions since then with no adverse side effects whatsoever. So far, so very good: I have had no more episodes of SCLS.

While I was among the first SCLS patients in the United States to benefit from an IVIG therapy, most other patients who had previously been getting this medication in Europe, and virtually all patients around the world who have since received IVIG, have stopped having episodes of SCLS.

Our stories are now told in a number of case studies published in various medical journals, and there is also a scientific article showing the efficacy of IVIG in countering SCLS in laboratory conditions based on our blood samples before and after receiving IVIG, as well as several articles with the results of surveys of SCLS patients who have been on IVIG.  The evidence that IVIG is the best and almost always successful therapy for the prevention of episodes of SCLS is now overwhelming.

My address is aporzeca@american.edu

Birdshot Chorioretinopathy

dagmara56

birdshot patient since 1990 and forum founder since 1999

Syringomyelia

Ericatom1

30 yr old female with thoracic syringomyelia, thoracic scoliosis, rheumatoid arthritis, kidney disease

Dent's Disease

LadaBL

Hi,

 

 

I am a nephrologist (kidney doctor) who works at NYU in New York City. National Institutes of Health has sponsored research of Dent disease starting Sept 2009 which includes, and starts with, forming Registry of Dent disease patients.

 

 

Dent disease manifests usually with low molecular weight proteinuria (loss of protein in the urine) and often with kidney stones or even calcifications of kidney. Significant number of patients develop kidney failure and need dialysis or transplantation.

 

 

Registry means collection of information on individual patients which is then stored, anonymously, in one database. That allows us to analyze collected information on large group of Dent patients, which has never been done before, because physicians typically take care of only few Dent patients (usually 1-5).

 

 

Our website is http://www.rarekidneystones.org/dent, where you can look up the available information.

 

 

Contact:

 

Barb Seide| Study Coordinator | Mayo Clinic Hyperoxaluria Center | Nephrology Research | Phone: 507-293-4112 | 800-270-4637 | fax: 507-255-0770 | seide.barbara@mayo.edu | hyperoxaluriacenter@mayo.edu.

 

 

I would be happy to answer any of your questions. My email is lada.bearalasic@nyumc.org or LadaBL@yahoo.com.

 

 

Several people from this site have contacted us. Congratulations for making the initiative and moving the knowledge forward!

 

 

 

Stay strong!

 

 

Lada

 

 

Sneddon's Syndrome

ladybloobalot

I have Sneddon's Syndrome and am the president of the fledgling US Sneddon's Foundation.

Dravet Syndrome

idealeague

Primary Biliary Cholangitis (PBC)

PBC Advocate

As a patient with Primary Biliary Cholangitis or PBC, the advocacy work I undertake is more than just talk. Living with a rare disease like PBC is a challenge and yet with new treatments the future is brighter than ever before. Having a voice in advocacy with other patient groups, researchers, pharmaceutical companies and local, state, and national government provides a unique perspective. I advocate on behalf of PBC patients to communicate the urgent need for sustained funding and continued research.

Arachnoiditis

Calliope Press

Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation

haveyroo

I am a Wife and Mother of a 7 year old girl who has been diagnosed with Ganglioneuroblastoma Cancer and ROHHAD Syndrome.

 

 

My daughter began showing symptoms that something was wrong around age 2 and by age 4 we were given a diagnosis. I have studied this disease for the past three years and have found many families from around the globe that share her disease. I have worked with NORD and GARD to get information on their sites and ensure the Rare Disease Day has it updated and listed in their database.

 

 

My daughter was the first to undergo an experimental treatment for ROHHAD and so far has shown great signs of improvement.

Askin's Tumor

obsessedwithlife

3-time young adult Askin's Tumor survivor. Was diagnosed at 15 with an egg-sized tumor around my spinal cord-had emergency surgery, chemotherapy for a year and radiation. Relapsed a year later with the cancer in my bone marrow-had 6 rough months of chemotherapy followed by an autologous stem cell transplant which came with many life-threatening side effects. A year and a half after that, I relapsed again with a tumor between my heart, lung and spine (a new Askin's Tumor). I did not have any treatment options and was given weeks to live. Through a medical miracle, the tumor grew some-but not as aggressively as normal-and did not invade my organs. It stayed stable until May of 2004, when it was safely removed. I have had no evidence of the disease since but still deal with many long-term side effects such as fatigue, chronic pain, etc.

Idiopathic Pulmonary Fibrosis

CurePF

I am a professional working with the Coalition for Pulmonary Fibrosis. I can assist people with questions about the disease and efforts to find treatments and a cure.

Medullary Cystic Kidney Disease

ableyer

I am a clinical investigator and have been a member of the teams that found the genetic causes of MCKD1 (MUC1 gene mutation), MCKD2 (UMOD gene mutation) and REN gene mutations.

test-community

shivangp2

Large Congenital Melanocytic Nevus

megansdad

I am the Executive Director of Nevus Outreach. My daughter has a bathing trunk nevus and neurocutaneous melanocytosis (symptomatic).

CardioSpondyloCarpoFacial Syndrome

Saskia1981

my daughter has MAP3K7 mutation with Cardiospondylocarpofacial syndrome.

Main diagnosis was / is Dilated Cardiomyopathy

Superior Mesenteric Artery Syndrome

SMA Syndrome

In 2012 I was diagnosed with SMAS. I had duodenojejunostomy at Johns Hopkins Dec 2012. I continue to struggle with digestive issues, and have also been diagnosed with Nutcracker Syndrome, Pelvic Congestion Syndrome, and May Thurner Syndrome. In 2016 I had SMA Transposition surgery to correct my Nutcracker Syndrome and to relieve to compression on my duodenum.  My daughter and I started and run the only Nonprofit dedicated to assisting those with Superior Mesenteric Artery Syndrome in the USA. smasyndrome.org

Alternating Hemiplegia of Childhood

ljmackmd

Dr. Leigh J. Mack is a member the Board of Directors for CureAHC (Alternating Hemiplegia of Childhood) and has developed a 5 year research plan to get to a Phase 1 clinical trial using gene editing appications to correct faulty genes in the AHC condition. He is a graduate of USAT Montserrat; holding both MD and PhD degrees. Dr. Mack has post graduate training in Nanotechnology (nanomedicine) from University of Oxford. He trained at John Radcliffe Hospital (University of Oxford/NHS) in Trauma Plastics. Dr. Mack is a Certified Principal Investigator (CPI - ACRP); and a Fellow of the Academy of Physicians in Clinical Research. Recently, became a member of the ACRP Academy Standards Setting Committee for the new CPI exam. Dr. Mack served in the US Army National Guard for 7 years.

USP7

Becky Raatz

My daughter is diagnosed with a missense mutation of USP7 on Chromosome 16.