Rare Disease Day Feb 29, 2020

"Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face.  It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, a leading independent, non-profit organization committed to the identification, treatment, and cure of rare diseases."


Did you know that many gynecologic cancers are considered rare diseases in the US  by the NIH's Office of Rare Diseases Research? They are:

Ovarian

Uterine, including Sarcomas

Endometrial,

Fallopian tube,

GTD (Gestational Trophoblastic Disease),

Vaginal 

Vulvar 

For more information about Rare Disease Day in the U.S., go to www.rarediseaseday.us.  For information about global activities, go to www.rarediseaseday.org).  To search for information about rare diseases, visit NORD’s website, www.rarediseases.org.

Dee

#Dazzle4Rare - Rare Disease Campaign 2017

We are pleased to once again support the #Dazzle4Rare Campaign sponsored by @hesaonlineorg. Last year was the first time we partnered with #Dazzle4Rare to raise awareness of rare diseases. You may read least year's blog post here.

A number of gynecologic cancers are considered rare diseases by the NIH. Ovarian, Endometrial/Uterine, Fallopian Tube, Vaginal and Vulvar Cancers are rare as are the two gynecologic cancers we discussed during this month's chat, Primary Peritoneal and Gestational Trophoblastic Disease. 

You may learn more about how you can get involved in this year's #Dazzle4Rare Campaign at  https://www.daycause.com/hesaonlineorg/dazzle4rare-2017

Feel free to share tweets like this one from August 13 to the 20th.

#Dazzle4Rare Learn about PPC & GTD rare gynecologic cancers http://gyncsm.blogspot.com/2017/08/august-92017-chat-you-never-heard-of.html #gyncsm

or

#Dazzle4Rare Vulvar, Vaginal and Fallopian Tube are rare gyn cancers   http://gyncsm.blogspot.com/2016/02/february-chat-rare-gyn-cancers-vuvlar.html #gyncsm

If you would like to share your story with a rare gynecologic disease with the #gyncsm community please e-mail us.


Dee and Christina
Founders, #gyncsm Community

August 9,2017 Chat: "You never heard of Primary Peritoneal Cancer or GTDisease?"

This month we were pleased to raise awareness and provide information on two rare gynecologic diseases - primary peritoneal cancer (PPC) and GTD (Gestational trophoblastic disease).

We had 43 people participate in the chat with a total of 1.56 impressions and 370 tweets in the hour. You may find more stats here and the complete transcript here via Symplur. 

Below you may read some of the tweets shared in answer to our topic questions. For complete information please read the transcript or check the Resources at the end of the post. 
 
T1: What is Primary Peritoneal Cancer (PPC)? Why is it treated like ovarian cancer?

• The peritoneum is a thin membrane that forms the lining of the abdomen. It covers all of the organs within the abdomen.
• PPC arises is in the peritoneum (lining of the abdomen). It responds to a similar combo of surgery and chemo used for ovar ca
• PPC is often diagnosed at stage III/IV but can still be completely cleared in the upfront setting
• The histology (cell type) of PPC is same as #ovariancancer and Fallopian tube
• And genetically the same as well. Also the same proteins are on the cell surfaces.
• The most common cell type of PPC, serous carcinoma, is also the most common cell type in #ovariancancer
• Important fact - a woman can get Primary Peritoneal Cancer even if her ovaries have been removed.
• PPC most commonly treated like epithelial ovarian cancer w/ surgery and chemo. NCCN guidelines: https://www.nccn.org/patients/guidelines/ovarian/index.html
• The only way to distinguish PPC vs. #ovariancancer is by path looking at the ovarian surface & stroma to see where cancer arises

T2: Are there risk factors and symptoms of Primary Peritoneal Cancer (PPC)? Is there a known genetic mutation that increases risk?

• #BRCA mutation can put pts at risk for PPC - even if the ovaries have been removed
• Primary #peritonealcancer in #BRCA carriers after prophylactic bilateral salpingo-oophorectomy #gyncsm ncbi.nlm.nih.gov/pmc/articles/P…
• The symptoms & Risk factors are the same for #PrimaryPeritoneal & Ovarian cancer
• Risk factors for PPC are the same as #ovariancancer - significant exposure to estrogen - early menarche, late menopause
• The major risk factor for Primary Peritoneal Cancer is advancing age. #gyncsm
• PPC symptoms are more commonly gastrointestinal - abdominal bloating, changes in bowel habits, and an early feeling of fullness.
• Like #ovariancancer, no effective screening for PPC
• Risk of PPC in BRCA positive patients following risk reducing BSO surgery is 1-3% in most studies
• All women w/ invasive epithelial PPC meet guidelines for genetic counseling & testing, just like ovarian cancer

T3: What is Gestational trophoblastic disease (GTDisease)? What types of GTDisease are there? Are they all malignant? 

• Normal cells of the placenta, called trophoblast cells,
• a group of diseases from abnormal proliferation of trophoblasts-- these are cells from the placenta
• GTDisease is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. #gyncsm
• Most GTD is not cancer and does not spread, but some types become cancer and spread to nearby tissues or distant parts of the body
• GTD buff.ly/2vkVH9e GTD: -Hydatidiform -Invasive Mole -Choriocarcinoma -Placental trophoblastic tumor -Epithelioid
• Molar pregnancy, persistent mole, invasive mole choriocarcinoma .. most need only a D and C. Some need chemo.…

T4: What are the risk factors and other important things to know for GTDisease? Is there a known genetic mutation that raises risk? 

• Important to know: About 1/2 from molar pregnancies, 1/4 from miscarriages or ectopic and 1/4 from normal or preterm pregnancies 
• Invasive GTN characterized into high risk and low risk subgroups which determines adjuvant chemotherapy
• GTDisease treatments include surgery (removing tumor only or hysterectomy), chemo and radiation
• Main GTDisease Risk: Age and previous molar pregnancy. Symptoms include abnormal vaginal bleeding and a larger than normal uterus.
• There's not known genetic mutation related to GTDisease. A family history of molar pregnancy has been found in rare cases.
• Ethnicity (Asian) also plays a role in GTD
• Also important to get chest CT. About 40% will have micrometastases to the lungs that were negative on chest x-ray

T5: Are there any special support services for these two rare cancers? Where can people learn more? 

• Martha C. Kinnecom Primary Peritoneal Cancer Foundation primaryperitonealcancer.org
• You may want to contact @smart_patients which has online health communities
• There are a couple of centers nationally that focus on GTD bit.ly/2uqYvDi
• #RareDisease resources include: @GlobalGenes @RareAdvocates @RareDiseases @rarediseaseday #Dazzle4Rare
• Important to receive care for rare cancers with a specialist, such as a gynecologic oncologist
• Check out CART-WHEEL for rare cancers cart-wheel.org
• There are some support groups on FB for rare tumors facebook.com/groups/1542683…

#gyncsm is joining the #Dazzle4Rare campaign August 13-19. Learn more about rare diseases and share your own story (https://www.daycause.com/hesaonlineorg/dazzle4rare-2017 )


We hope you will join us next month on Wednesday, September 13, 2017 at 9pm ET for our chat A balanced life- advocacy, survivorship, new normal. And continue this discussion rare diseases on Smart patients at https://www.smartpatients.com/partners/gyncsm 

Dee
Co-moderator #gyncsm Chat

RESOURCES: 

Primary Peritoneal Cancer

NCCN Guidelines for OC and PPC - https://www.nccn.org/patients/guidelines/ovarian/index.html

Primary Peritoneal Cancer in BRCA carriers after prophylactic bilateral salpingo-oophorectomy
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922728/

@gyncancer Primary Peritoneal Disease Information : http://www.foundationforwomenscancer.org/types-of-gynecologic-cancers/primary-peritoneal/

PPC from Macmillan UK http://www.macmillan.org.uk/information-and-support/primary-peritoneal-cancer

PPC information Medscape http://emedicine.medscape.com/article/2156469-overview

Peritoneal Cancer Clinical Research Trials @CenterWatch https://www.centerwatch.com/clinical-trials/listings/condition/553/peritoneal-cancer

Goodman :Incidence of Ovarian, Peritoneal, and Fallopian Tube Carcinomas in the United States, 1995–2004 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706690/)


GTD

Gestational Trophoblastic Disease Treatment (PDQ®)–Patient Version via @theNCI https://www.cancer.gov/types/gestational-trophoblastic/patient/gtd-treatment-pdq#section/all

Patient Information on Gestational Trophoblastic Disease from @gyncancer http://www.foundationforwomenscancer.org/types-of-gynecologic-cancers/gestational-trophoblastic-disease-gdt/

What is GTD American Cancer Society https://www.cancer.org/cancer/gestational-trophoblastic-disease/about/what-is-gtd.html

Gestational Trophoblastic Disease via @CancerDotNet http://www.cancer.net/cancer-types/gestational-trophoblastic-disease

August #gyncsm Chat - "You never heard of Primary Peritoneal Cancer or GTDisease?"

In the past three years we have hosted chats dedicated to a number of the different gynecologic cancers - Cervical, Endometrial/Uterine, Fallopian Tube, Ovarian, Vulvar and Vaginal. This month we are going to discuss two more of the rare gynecologic cancers - primary peritoneal and GTD (Gestational trophoblastic disease).

What are these cancers?

Primary Peritoneal Cancer (PPC) forms in the peritoneum (the tissue that lines the abdominal wall and covers organs in the abdomen), and has not spread there from another part of the body. Primary peritoneal cancer sometimes spreads to the ovary. It is similar to ovarian epithelial cancer and is staged and treated the same way.
-NCI Definition

In data from 1995-2005, Goodman* found that the incidence rate in the U.S. for PPC was 6.78 per million women compared to 119 per million for ovarian cancer. Women with PPC were diagnosed at a later age (mean 67 years) than ovarian cancer (mean 63 years). (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706690/)

GTD (Gestational trophoblastic disease) is a rare condition in which abnormal cells grow inside the uterus from tissue that forms after conception (the joining of sperm and egg). This tissue is made of trophoblastic cells, which normally surround the fertilized egg in the uterus and help connect the fertilized egg to the wall of the uterus. These cells also form part of the placenta (the organ that passes nutrients from the mother to the fetus). Most GTDs are benign (not cancer) and do not spread, but some types are malignant (cancer) and spread to nearby tissues or other parts of the body. The two main types of GTDs are hydatidiform mole and choriocarcinoma. Also called gestational trophoblastic disease, gestational trophoblastic tumor, and GTT.
-NCI Definition

GTD occurs in 1 out of 1000 pregnancies in the US. It less than 1% of all gynecologic cancers. GTD is more common in Africa and Asia than in North America. (http://www.cancer.net/cancer-types/gestational-trophoblastic-disease/statistics)

You can learn more about GTD or Primary Peritoneal Cancer by joining our chat and reading these pages on the NCI website.

• GTD https://www.cancer.gov/types/gestational-trophoblastic/patient/gtd-treatment-pdq
• Primary Peritoneal Cancer is treated like ovarian cancer and is included with the NCI Ovarian cancer information. https://www.cancer.gov/types/ovarian/patient/ovarian-epithelial-treatment-pdq

You can also read a GTD survivor story here on our blog:
http://gyncsm.blogspot.com/2015/04/survivors-story-gtd-and-me-story-of.html

Part of #gyncsm's mission is to support those impacted by all gynecologic cancers. One way we can do this is to offer information on rare gynecologic cancers and support survivors of those cancers. #gyncsm will be participating in the #Dazzle4Rare social media campaign during August 13-19. Check out that tag to learn more about rare disease and share your own story.

We hope you will join us as we raise awareness of the risks of these rare gynecologic cancers, support the women impacted by them, and support the clinicians and researchers who focus on treating these rare cancers.

We look forward to chatting with you on Wednesday, August 9th at 9pm EST (8pm CST/ 6pm PST).

Guiding our discussion will be the following topic questions:

T1: What is Primary Peritoneal Cancer (PPC)? Why is it treated like ovarian cancer?

T2: Are there risk factors and symptoms of Primary Peritoneal Cancer (PPC)? Is there a known genetic mutation that increases risk?

T3: What is Gestational trophoblastic disease (GTDisease)? What types of GTDisease are there? Are they all malignant?

T4: What are the risk factors and other important things to know for GTDisease? Is there a known genetic mutation that raises risk?

T5: Are there any special support services for these two rare cancers? Where can people learn more?

Dee
Co-founder #gyncsm

*Goodman Study

#Dazzle4Rare Campaign

The #gyncsm community supports women diagnosed with a number of gynecologic cancers that are considered by the NIH to be rare diseases. In an effort to raise awareness that Ovarian, Endometrial/Uterine, Fallopian Tube, Gestational Trophoblastic Disease, Vaginal and Vulvar Cancers are rare diseases, #gyncsm supports the #Dazzle4Rare campaign. You can join the effort too. Read the post below which originally appeared on the HESA website (http://www.hesaonline.org) and join us as we support #Dazzle4Rare during the week of August 15th - 21st. 

Here's something from #gyncsm that you can share:

• Let's #Dazzle4Rare - Learn about some of the rare gynecologic cancers http://gyncsm.blogspot.com/2016/02/february-chat-rare-gyn-cancers-vuvlar.html #gyncsm

Click here to join the #Dazzle4Rare thunderclap.

#Dazzle4Rare Social Media Campaign

During the week of August 15th through the 21st HESA is going to #Dazzle4Rare. We will be tweeting, posting, liking, and sharing for rare disease. It’s projected that 1 in 10 people suffer from a rare disease [https://globalgenes.org/rare-diseases-facts-statistics/]. It’s also projected that there are at least six to seven thousand rare diseases. With 10% of the population suffering from between six and seven thousand rare diseases, it’s hard for any one rare disease group to spread awareness of their condition.

We can band together as a wider, greater community and spread awareness together and for each other. We can join hands and reach around the globe to share our messages with those who would otherwise never hear about many of these conditions. The more we speak up and speak out, the more likely we are to reach those who may need to hear our message the most.

Tag your selfies. Tell your rare disease story. Share someone else’s rare disease story. Raise awareness.

If you would like to join our #Dazzle4Rare campaign, join our discussion group. We’d love to hear your ideas, see your posts, and find out more about your organization! Let’s dazzle the World and show everyone how rare can shine!


---------------------------------------
Dee and Christina
Founders, #gyncsm Community

February Chat : Rare Gyn Cancers- Vulvar, Vaginal and Fallopian Tube Cancers

With Rare Disease Day coming up on February 29th we were pleased to hold a chat on three of the rare gynecologic cancers - Vulvar, Vaginal and Fallopian Tube. Visit www.rarediseaseday.org and follow @rarediseaseday to learn how you can support their efforts to give a voice to rare diseases.


For this month's chat we had forty-six participants join us and we had over 1.5 million impressions. Additional chat statistics may be found here and a complete transcript may be found here.

A sample of responses to our questions appear below:

T1: What are some of the key things to know about vulvar cancer - risks, symptoms, treatments, etc.?

• Vulvar: estimated 5000 women will be dx with vulvar cancer in 2016. That is 1 in 333 women.Data: via @theNCI SEER data.
• Vulvar Cancer is classified into three main types, Squamous cell carcinoma, Adenocarcinoma, and Melanoma.                                
• via @MayoClinic Lichen sclerosus - uncommon condition that creates patchy, white skin that's thinner than normal.
• T1: Vulvar Cancer treatment: Main - Surgery (laser, excision, vulvectomy) Also - Radiation and/or Chemo
• @NCCNnews Vulvar guideline for professionals available. Patients can register on site to gain access. 

T2: What are some of the key things to know about vaginal cancer - risks, symptoms, treatments, etc.?

• Vaginal Cancer: @ACS estimated 4070 women would be dx with vaginal cancer in 2015.
• Main Vaginal Cancer Symptoms per @CDCgov: abnormal vaginal bleeding or discharge and changes in bathroom habits
• The pessary is placed into the vagina to support the uterus or bladder and rectum helps decrease urine leakage.
• Vaginal cancers are similar to cervical cancer in risk factors (HPV and smoking) and treatment (chemoradiation) 
• Laser and excision for vaginal precancer. Chemoradiation for cancer.

T3: What are some of the key things to know about fallopian tube cancer - risks, symptoms, treatments, etc.?

• Fallopian Tube: @cancerdotnet in 2013 stated FT cancer is 1% of reproductive cancers. There is a close link to #Ovca
• #fallopian tube cancer is often treated just like ovarian or peritoneal cancers
• Fallopian tube cancers can be associated with #BRCA syndrome - just like ovarian cancer!
• As much as 40% of what we call ovarian cancer may actually be fallopian tube cancer. There are both treated with surg and chemo
• Most epithelial #ovariancancer cases originate in the fimbria of the Fallopian tubes

T4: There is a suspected relationship between the fallopian tubes and ovarian cancer. What is the latest research showing?

• There are data to support that #ovarian cancer arises in the fallopian tube
• Research •role of fallopian tube to ovarian cancer https://t.co/tgtPuYptUP
• Primary peritoneal cancer is another rare gyn cancer and is similar to ovarian and fallopian tube.

T5: How does the treatment of these cancers differ from that of other GYN cancers (ovarian/cervical/uterine)?

• Treatment for recurrent vaginal and vulvar cancers is often extrapolated from cervical cancer trials
• For ovarian, see surgery, benefit of IP chemo, and main-line little or no radiation.

T6: Since these cancers are so rare, where can those impacted by vulvar, vagina, and tubal cancers find information and support? 

• for rare cancers the NCI PDQ often has treatment suggestions.
• @patientslikeme is another great resource for rare cancers/diseases
• Smart Patients https://t.co/Vn6IUq0QAi welcomes people with any rare cancer or disease
• Resources/groups for all GYN cancers: @GYNCancer @GynCAN @Globeathon @NEDmovie - info specific and applying across the type

Please scroll down for Resources shared during the chat. 

You may continue our conversation about Rare Gyn Cancers on Smart Patients at https://www.smartpatients.com/gyncsm.

Be sure to join us on Wednesday, March  2016 at 9pmET for our discussion on Genetic Counselors and Understanding Cancer Risk. Our guests will be the leadership of National Society of Genetic Counselors (@GeneticCouns). 

We look forward to seeing you then. 

Dee

#gyncsm co-moderator

RESOURCES

Vulvar Cancer 
New NCCN Guidelines published for #VulvarCancer https://t.co/NwdwHbUco5
@GYNCancer ‘s video What Every Woman Should Know: Vulvar Cancer https://t.co/JcoRpGH9wU

@GYNCancer http://www.foundationforwomenscancer.org/types-of-gynecologic-cancers/vulvar/

Vulvar Cancer Info via @theNCI http://www.cancer.gov/types/vulvar

@MayoClinic support for those w/ vulvar DX https://t.co/eUAKY1voiG
@CDCChronic has some stories too https://t.co/k8hQKJI6vR
@cancercompass has a message board Vulvar Cancer Discussions; https://t.co/G6spao9P9D

Vaginal Cancer 
#VaginalCancer Treatment (PDQ)—Patient Version - Via @theNCI https://t.co/jOqEbHFq1W
Vaginal Cancer on @CancerDotNet https://t.co/LY10V9PL8v
@GYNCancer   https://t.co/yfB4mOm46L
Vaginal Cancer Info via @theNCI http://www.cancer.gov/types/vaginal 

Fallopian Tube Cancer 
Fallopian Tube Cancer on @CancerDotNet https://t.co/lPQiPfVbSv
Survivor Story Tina http://eyesontheprize.org/stories/tinap.html
Incidence of Ovarian, Peritoneal, and Fallopian Tube Carcinomas in the United States, 1995–2004 https://t.co/3jISJgbVDu
Research •role of fallopian tube to ovarian cancer https://t.co/tgtPuYptUP
The Role of the Fallopian tube in Ovarian Cancer https://t.co/Rnsdeg6OKf

Rare Diseases
@rarediseaseday https://t.co/e97o9NYSKs
#RareDisease Week on Capitol Hill https://t.co/4CNOLkCbTc
@GlobalGenes https://globalgenes.org/toolkits/ 

General 
What Every Woman Should Know video campaign https://t.co/sd3l492Rdx    
Gyn Cancer Symptoms Chart  https://t.co/2B0kOOXKru