With an Introduction by Eleonora Passeri and life stories by Iain McGeachin, Rachel Quesnel Shilletto, Benita Penfold, Polly Moyer, Rita Francisco, Sandra Brasil, Carlota Pascoal, and Dorinda Silva.
Introduction by Eleonora Passeri and edited by Amanda Rackerby
There are journeys of all kinds. Some journeys take you from one part of the world to another, and others take you on a journey from one point of knowledge and empathy, to another very different place of the mind and heart. Since this is an article on travel, in this introduction, I would like to tell you about what I have learned from my journey from a neuroscientist researcher to parent and patient advocate of Rare Diseases.
When I stared my journey on writing articles with my friends with Rare Special Powers, I expected it to be a very different process compared to my usual procedure for writing scientific papers, however, collecting different opinions or perspectives from patients and the mothers of patients requires similar “guidelines” to those used for pulling together graphs and tables. For example, I see a strong similarity or a parallel to the cells I had seen in a microscope as a researcher to the art I use in these Rare Special Powers articles. Thus, the skills I used as a researcher are still very much present and alive in my writing and information gathering. But, the vast difference comes when I read these parent’s and patients article “abstracts.” It is here that I get a glimpse of the high-stake feelings and emotions. These are articles written from the heart rather than the mind. I have found this writing experience profoundly more difficult because for the first time in my career I now have been able to grasp this rare group’s sufferance. I have gone behind the disease and I have found the person. This is what travel is all about, right? Discovery.
With summer here in our hemisphere, our mind often goes to the idea of the “vacation.” We look forward to a gateway, after all, we deserve a vacation after an entire year of hard work. Our vacation might have been planned for months and now just few more weeks and we will be on a beach or on top of mountain or hanging around a historical city. But what about these rare patients and their families? How do they deal with vacations? Today’s Rare Special Power’s article discloses how these rare people deal with travel and vacations and also provides some suggestions from their past experiences.
This article is not just for these Rare families to feel connected and maybe for a moment not so alone on their path, but it is also for all the rest of us that don’t suffer every day from a rare disease that we may learn a little about this group of people so we can extend our empathy so we all can be a little more understanding and form a connection with those that often have a quiet and insular presence in this world because the world has not adapted. So take a moment from your day to go on a trip with us as we discover what travel is like with a Rare Disease and why these rare individuals decide to take on the challenge of travel. Bon Voyage! Buon Viaggio!
Our family is always up for adventures from day tripping, overnight stays or flying when we are lucky enough to have a trip paid. We invite you to come along with us on an adventure when your child is in a manual wheelchair.
Adventure 1: Visiting Family. How do we manage all those stairs with a 110lbs child? We are lucky enough that our daughter has some strength in her legs so we can physically support her as she pushes herself upward…Safety issues - definitely but the alternative is to stay home and never see anyone and this only works if the stairs are not too steps and not too many. Alternatively, she can do the bum scoot up the stairs but at 12, this is very embarrassing. Or even worse, is picking her up wheelchair and all and carrying her up the stairs, the issues is that you need to remember the brake so the chair doesn't tip and that is big security risk. Too many ways to injure someone.
Need a pee break? Do you know that most bathroom door won't accommodate a wheelchair. Powder rooms are the easiest to manage since the doorway is close to the toilet but some are a real juggling act because seriously who wants to crawl in a bathroom!
Adventure 2: Visiting a new restaurant. Does the table have a ledge under? Then the wheelchair won't fit underneath it, so she's eating on her lap.. How embarrassing! No straw? clear liquid such as water and juice makes my daughter cough and she has tremors - not drink friendly. Straws are our friends. I should be organized enough to always have some in my purse but the reality is that I'm not.
Need a pee break? Sometimes we are lucky and the only issue is that there are no automatic door openers. But there are places that the handicap stalls door opens inward - yes, folks, inwards so how do you close that once the chair is inside. You don't. Do you want a face wash? Well, you may get one anyways because the water hits the sink and the faucet is at face level so free face-wash! I carry hand-sanitizer for this!
Adventure 3: Overnight stay in a hotel. We've ask all the accessibility question for our daughter's need that we can think and we are set. Wrong! What is with these beds that are 3 feet off the ground? She can't transfer from her wheelchair to the bed. The toilet is accessible but there's a tub in the bathroom. Well, that's potential for someone to get hurt. I guess it's a sink/face cloth bath/wipe for us. Space? The room is so crowded with furniture that the wheelchair won't fit to get to the second bed. Well, I guess that's means she's not sleeping in that one. Let's not even talk about nighttime incontinence and getting fresh bedding! Even when you ask for extra bedding. We all know that incontinence underwear is not leak proof.
Oh, there's a pool (!), but there's no lift. Don't try getting someone that's wet out of a pool: It's a real recipe for disaster.
Adventure 4: Overnight stay in a hotel & theme park. See room potential issues above. We are told that this is the place for children with accessibility issues. It's water theme but there's no water wheelchair available. Less than 1/2 of the park is accessible to her wheelchair. Disappointing. This piece was made worst because it was gifted to us and we wanted to enjoy it to the maximum but by the evening we were all ready to pack it in.
Adventure 5: Traveling plans for school trips. I'll admit it. I am not big on school trips, I try to avoid them as much as I can but for some reason, the school is always calling at the last second if the trip is too far with busing issues! So you need to pull up all your cards in finding the proper transport for your child.
Adventure 6: Air flight. Our daughter qualified for wish grant and we decided to go to Disney World. While the park is accessible and she was lavished with attention wherever she went. The rooms came with the same issues as in adventure 3. The biggest struggle was the flight. It was a three hour flight and we tried limiting the drinking but she needed to go. You never realized how small the bathroom is until you need to fit two of you in there and change her clothing as well. Our travel agency book us halfway into the plane and not at the front of the plane where it where it would be close to get to the bathroom. Supporting your child to the bathroom in the narrow aisle is another struggle as well.
Adventure 6: Beach Day. Ever been on sand with your bike it's quite a work out! Some of the bigger beach have sand wheelchair, which are super nice to have. This is the only place where crawling is necessary so we usually get as close as we can to the water so the crawling is minimal and it doesn't look like much to anyone looking on.
Adventure 7: Hiking. So we've scouted the trail out, it's wide path and listed as accessible. But guess what, it rained the night before. So you are pushing a wheelchair in the mud, it's dirty work and your arms will be sore the next day. They didn't warn you that there's some really steep hills. So you are pushing and/or pulling the chair up and down these hills!
Adventure 8: Walk around the block in winter. We are lucky to live in a country will a 4 season. Winter is quite a challenge for us with the snow, sometimes, you only make it to the corner because you pack it in and go home because the chair keeps getting stuck.
These are only the challenges but we make incredible memories and we can recount stories about our adventures. We are always looking for adventures and see what we will discover.
Photographic Blog: https://ardierphotography.wordpress.com/
The Arden Effect - A ANE Warrior's Journey:
Visit ANE International : www.aneinternational.org
The Portuguese Association for CDG (APCDG) and CDG&Allies–Patients and Professionals Association International Network (PPAIN) are determined to raise funds to foment CDG research, the key to improve diagnosis, management and find therapies for such a group of rare diseases.
CDG are a family of rare metabolic diseases with more than 130 types identified and a wide and severe clinical spectrum. The majority of CDG still do not have a cure and targeted therapies are scarce. Although the immune system is often affected, and high child mortality numbers are due to severe and recurrent infections, CDG Immunology is still an unknown and unexplored field.
In line with the activities of the 16th May World CDG Awareness day, APCDG is launching a new fundraising movement and appealing to all community to join us in facing this urgent unmet need.
‘APCDG and CDG&Allies-PPAIN are devoted to accelerate research for all CDG types in an holistic manner. There is a high sense of urgency in the immunological knowledge for CDG because if we learn more about this area, it can really save lives and improve patients’ and family members’ life quality! The importance is clearly seen by the fact that other CDG patient groups are making a joint effort with us to address this and support this project financially. We are globally united to help CDG children and adults!’, said Rosalia Felix, mom to a CDG patient and APCDG founder and vice-president.
For the past 2 years, CDG&Allies-PPAIN invested in research to unravel immunological involvement in CDG (WG CDG & Glycoimmunology) after identifying the lack of knowledge in this area as one of the biggest needs from the patient perspective.
‘We witnessed that immune symptoms are extremely worrying for CDG families because each infection puts their kids in danger. Glycans and the immune response are interrelated influencing the function of every cell and system in our body. The more we investigate, create and share scientific knowledge, the more we contribute to the development of better and precise therapies to treat our patients’ explained Paula Videira, CDG&Allies–PPAIN director and Glycoimmunology Group Leader.
The fundraising campaign for the Immunology Project will be active from May 16th until May 31th and we encourage everyone that wish to be involved to visit, watch the video and donate HERE.
If you wish to obtain more information, do not hesitate to contact firstname.lastname@example.org.
*World Congenital Disorders of Glycosylation (CDG) Awareness. Education. Diagnosis program 2018 - 2022*
“Awareness is like the sun. When it shines on things, they are transformed” – Thich Nhat Han
We are thrilled to announce the launch of the World CDG Awareness. Education. Diagnosis program for 2018 – 2022.
Based on our global and holistic vision about CDG, we are launching a series of awareness and educational materials, particularly dedicated to less frequent CDG types.
CDG are unknown and commonly misdiagnosed rare metabolic diseases. In order to learn about the families’ needs directly from the CDG community, back in 2015, the Portuguese Association for CDG (APCDG) coordinated the first “CDG Think Tank”. One of the outcomes was the urgent need to raise awareness for rarer CDG types.
“This new program is very ambitious, highly representative of CDG heterogeneity, and has a very clear message – Let’s not leave anyone behind!” affirmed Rita Francisco, CDG PhD student and advocate (volunteer at APCDG and CDG & Allies-PPAIN).
This series starts with an infographic dedicated to PIGN-CDG.
“We are creating several patient-friendly infographics aimed at explaining the symptoms of less frequent CDG types. Doctors and families will unite to run a global campaign to educate and inform around these CDG. We are also actively raising funds to support the creation of these resources” said Rosália Félix, Mother to a CDG adult patient and APCDG vice-president.
These resources are crucial for an early and accurate diagnosis which can improve the patient's quality of life as well as to improve treatments and care for their disease.
We deeply acknowledge the collaboration of all the volunteers working on developing these FREELY available resources. Especially to the families, who actively participated in the creation and improvement of this informative poster.
“This poster will be a great resource for families diagnosed with CDG-PIGN. It provides information that is easier to understand than the complex medical papers. This campaign also provides hope by sharing some of the successes of our amazing children.” explained Kerry Blondheim, CDG Mom.
With our news, comes a CALL for participation from you CDG Families and Professionals.
Download the PIGN-CDG infographic HERE.
“It’s important for the whole CDG community to have accessible resources! I think good communication leads to increased knowledge and knowledge is power!” - concluded Sandra Brasil, CDG postdoc researcher and advocate (volunteer at APCDG and CDG & Allies-PPAIN).
Let’s spread CDG Awareness like never before! And without leaving anyone (anywhere) behind!
How can you spread the word about CDG using these resources?
APCDG is nonprofit-organization aimed at fostering breakthrough research that make an important difference in the lives of patients and their family members. Our actions are performed at the national and international level. Learn more HERE.
The worldwide CDG patient community joins efforts around this day to put together awareness, fundraising and education campaigns with a global dimension.
2nd May 2018 - Congenital Disorders of Glycosylation (CDG) are a family of rare metabolic disorders. There are approximately 100 different forms and the great majority still do not have a CURE. From 2 to 16 May, the CDG patient community will encourage families, friends, researchers, clinicians and companies of this community to participate in a variety of activities that will ultimately accelerate treatments and improve care for CDG children and adults.
Theme for this Year
The theme is “CDG is rare, but research should not be”.
“The CDG community is more prepared and committed than ever to join efforts that will put a spotlight on the hurdles that people with CDG and their family members face every day. This year, May 16th will be a historic day as the CDG global voice will set up lots of activities around the world aimed to raise awareness, to educate and to fundraise for a group of diseases who urgently needs treatments and good medical care”, said Vanessa Ferreira who created this day back to 2016 (APCDG founder and sister to a CDG patient). Indeed, Duncan Webster (Foundation Glycosylation – FoG president and father to a CDG patient) believes that “This day is important to raise awareness in order to continue to build on the great progress to date. More children are being diagnosed and the CDG families are joining together and collaborating with healthcare teams and researchers. Treatments and therapies are urgently needed! Support the fight for the beautiful children in need!”
Aiming to reach these goals and to respond to the needs of the CDG Community, CDG worldwide patient groups have partnered up for the 2018 World Congenital Disorders of Glycosylation (CDG) Awareness Day campaign, which kicks off TODAY. “CDG CARE is delighted to support this year's World CDG Awareness Day Campaign! Through our efforts to raise awareness, promote education, facilitate collaboration and increase fund development reserves, we will be able to effectively advance CDG diagnosis and treatments options for the CDG Community.”, said Andrea Berarducci (CDG CARE president and mother to a CDG patient).
“With global joint efforts we will make this day our CDG day. Together we support research but also spread information about this syndrome” added Anne-Kristin Ottosson (Swedish CDG organization).
Until the big day (May 16th) there are many ways you can join this campaign, support the CDG Community and raise awareness for these patients and families. “As a CDG community we have reached a new level of collaboration in order to achieve new treatments and an ultimate cure for CDG. There is so much determination and willingness to help among the various patient-driven groups; It’s inspiring! This year, on May 16, we are going to do everything in our power to educate our community about CDG. Kids and adults with CDG deserve the attention of the researchers and we are their voice. ”, said Misak Zetilyan (Amour Fund founder and mom to a CDG patient).
“Communicating and recognizing CDG is essential. It helps to improve diagnosis and research. Then, for CDG families and relatives, knowing more about the disease is of great help for its management and therefore to improve quality of care and consequently, better quality of life.”, added Nathalie Harvey (CDG patient representative from France and member to Les P’tits CDG).
“Research is definitely the key to open new avenues for earlier diagnosis, better management and new therapeutic solutions for CDG. May 16 is the day to raise our united voices and let the world hear about our strength and determination. Only an informed and educated community can understand the importance of participating and contributing for projects that will lead to research advances and ultimately better life quality for patients and their families.” added Carlota Pascoal (MSc, CDG researcher and volunteer for APCDG and CDG & Allies - PPAIN).
How to participate:
As World Congenital Disorders of Glycosylation (CDG) Awareness Day is approaching, the CDG community needs everyone’s support in raising awareness, educating and raising funds to help children and adults living with CDG. “We need the world to know about CDG, because only through the incredible support of people we can find answers and a cure. Talking about this rare disease can change many lives and on May 16th we need you to help us spread the word and educate our communities about it.”, said Barbara Vulso (CDG Italian and Ireland patient advocate and mom to Leo).
Creating awareness will help the CDG community their goals and more research for CDG becomes a reality. Raising awareness and increasing knowledge about CDG among the whole community is the only way we can move forward, as “By uniting our efforts, we will build a less bumpy road. Dissemination is the way to spread knowledge. We dream to build a basis to improve the quality of life of CDG families. The World CDG Awareness Day is a beacon of hope that drives more resources and scientific knowledge that will help CDG families to know how to face the difficulties associated with this disease”, stated Sandra Pinto and Jorge Palomero (CDG parent advocates, architects specialized in universal architecture and parents to Martin, members to APCDG and AESCDG).
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies -PPAIN) keeps expanding and now counts with 42 collaborators.
This pionneer patient-led network has recently been joined by 2 new important additions: Dr Sandra Brasil (PhD, Portugal) and Dr Eleonora Passeri (PhD, Italy).
Dr Brasil will be using her expertise to advance the projects at the Working Group CDG Patient reported Outcomes (PROMs) (learn more HERE), whereas Dr Passeri will be acting as our social media consultant and analyst (learn more HERE)
If you are a CDG professional, patient or relative interested in collaborating with us, please contact email@example.com or visit HERE.
#CDGNews We are just so thrilled to announce that Eleonora Passeri has joined our international #CDGResearch network!!
Eleonora is both a science and social media consultant and we are very lucky to count with her expertise and motivation.
To know more about Eleonora, read her biography HERE
Also, you can't miss her #RareTalk interview HERE.
The CDG Community is very glad to have you join us - We know that Together we'll do great things!
#RareDiseasesNews:What is #CDG? It stands for Congenital Disorders of Glycosylation and these are a group of metabolic disorders with over 100 different types.
The most common form is called PMM2-CDG. Watch this video to know more, share and like it to raise #Awareness! Thank you💚
#RareDiseasesNews: EURORDIS - European Rare Diseases Organisationhas launched a new 5min-long survey for patients and families around the world to share their views on RESEARCH. You can contribute until October 26. Let's make the CDG Voice Heard, Let's identify our priorities as a Community! The survey is available in 23 languages!
Find it HERE
Write something about yourself. No need to be fancy, just an overview.