Helpful resources:
We understand that living with a rare condition can bring up so many questions, including, but not limited to:
What is PROS?
How will my child cope with living with this?
How will I as a parent cope with this?
How can I help my other children / siblings?
I need specialised clothing &/or shoes, where can I go for these?
I feel like I am the only one, are there support groups out there?
On this page you will find various websites & articles that we hope may help.
WHAT IS PROS?
Please click on the links below for further information:
WHAT IS PROS from NORD (National Organization for Rare Disorders)
PIK3CA-related overgrowth spectrum
Evolving Perspectives in PIK3CA-related Overgrowth Spectrum (PROS) Diagnosis and Treatment
Guide to Expanded Access We know living with PROS can be very challenging & gaining access to medication even more so. Especially if there are no planned clinical trials in your country but you know of medication that has been used in other countries that could help. This guide to Expanded Access maybe of help to you.
- (For patients who are seriously ill and have exhausted available treatment options, and are not eligible
for clinical trials, Expanded Access may be a potential option to explore with their physician. In response
to patient feedback, Janssen created the Guide to Expanded Access (Guide) to support patients,
caregivers and health care providers in Canada and European countries seeking information about
Expanded Access. In collaboration with patient representatives, this Guide was created to support
anyone in search of country-specific information about Expanded Access (EA), also known as
Compassionate Use, or Pre-Approval Access (PAA).
PSYCHOLOGICAL WELL BEING & SUPPORT:
The story of James living with PROS
Growing up, I was different to everyone else “Growing up, I was different to everyone else” James and Andrea discuss living with a PIK3CA-related overgrowth spectrum diagnosis and isolation, the power of contributing medical records to research — and what adults can learn from kids’ reactions to physical differences.
https://www.allstripes.com/blog/friendship-physical-differences-confidence“How I Stopped Being Embarrassed and Started Deepening My Friendships” Because I have Klippel-Trenaunay syndrome, maintaining a social life can be hard. But I’ve learned that concealing parts of myself is even harder.
https://www.allstripes.com/blog/mandy-sellars-pros-reaction-physical-differencesWhen People Point and Stare – There’s no perfect way to handle people’s reactions to physical differences, but over the years I’ve developed a few techniques.
As a Black Woman, I Felt Like My Pain Wasn’t Taken Seriously Since getting a diagnosis of Klippel-Trenaunay syndrome at 27, I’ve been able to better advocate for myself and others with my condition.
The Power of Hashtags After my son Lincoln was diagnosed, I started connecting with others all over the world about their PROS journeys.
‘The Road Ahead Is Going to Be Difficult, But You Are Equipped for It’ Lindsey’s journey with her rare condition has evolved, and so has her ability to fiercely advocate for her needs as a patient and person.
12 Podcasts Highlighting Voices From the Rare Disease Community From All Stripes: “Whether you’re already a podcast lover or are just starting to explore the podcast universe, you’re in luck: There are a good number of podcasts that highlight voices from the rare disease community! We’ve rounded up some of the rare disease podcasts we love that are going strong and putting out new and upcoming episodes. Here are some reliable — and educational — podcasts from and for the rare disease community”
Lindsay Helps Teens With Physical Differences Embrace Who They Are She hopes that her example will show others that it is possible to live a happy life with CLOVES syndrome.
After Victor Was Diagnosed With CLOVES and MCAP, Jenny Decided to Focus on the Things He Can Do Jenny’s son, Victor, was born with an enlarged cheek, which turned out to be a fatty overgrowth caused by a mutation on Victor’s PIK3CA gene.
Bullied Because of a Rare Condition, This Dancer Is Now Redefining Beauty Andrea was rejected for professional dance jobs because PROS caused growths to develop on her face, but she refused to let society’s standard of beauty stop her from living out her passion.
Mental Health Resource Website dedicated to mental health.
Changing Faces – This is a very informative website: We offer a wide range of Self-Help for adults, families and young people learn new techniques to handle living with an unusual appearance.
This includes advice on how to live with confidence, enjoy healthy relationships, prepare for school, handle bullying and feel confident about seeking work.*PLEASE NOTE THIS RESOURCE IS FOR ANYONE WITH A VISUAL PHYSICAL DIFFERENCE*
Living with a rare condition: the effect on mental health
PeaceLoveHeal – A blog about living with CLOVES (A condition within PROS)
Disarming Disability – Disarming Disability Podcast was founded in 2019. The podcast’s mission is to powerfully deconstruct disability through candid conversations with experts exploring topics related to disability. The podcast looks to educate, empower, voice, and build a more inclusive society.
Spikes – and other ways disabled people combat unwanted touching– Bronwyn Berg became so fed-up with people manhandling her without asking, she put spikes on her wheelchair. And she’s not alone. With a spate of disabled people reporting unwanted touching some are taking action to stop it in its tracks.
4 Families take on rare disease – Confronted by illnesses that most scientists overlook, these families had to work out their own approaches to finding treatment.
Meeting People When You Have a Visible Difference – Exploring why meeting people when you have a visible difference can be difficult & ways to possibly deal & cope with this.
Limb Loss & Limb Difference U.K UK charities and support groups joining forces to raise awareness of limb loss and limb difference.
- Why don’t men talk about mental health?
- Is depression different for men?
- Suicide and men
- What can I do if I’m worried about my mental health?
- I’m worried about someone’s mental health. How can I help them?
Having lived with chronic pain and involuntary muscle contractions from a neurological movement disorder called dystonia since 2001, I felt defeated many times. But I am still here battling every day… and so are you! This is resilience. It doesn’t matter if you do more some days than others or even stay in bed sometimes if you are not feeling well. EVERYONE has days like this. But most days you get up and live the best life you know how given the constant challenges you face.
How resilient are you?
Check out this great resource from our friends at Beacon, links to a number of mental health websites, helplines, general & specialised ones: Beacon Resource Hub
Mental Health resources list from Beacon
I came across this great resource video from MPSSocietyUK focusing on helping adults, (see below for children & young people) with their mental health & wellbeing: MPS Society – mental health & well-being
Brought to you by All Stripes:
5 Mental Health Resources to Help Rare Patients & Families Feel Less Alone
A stated by All Stripes: “It is not surprising that having or caring for someone with a rare disease may have an impact on one’s mental health.” “A glimmer of hope, however, is that mental health is becoming a greater part of the conversation among the rare disease community and its supporters. .”
“To help contribute to this important conversation, ALL STRIPES compiled five of these rare disease-specific mental health resources that may help you feel less alone.”
- Why don’t men talk about mental health?, Is depression different for men?
- Suicide and men
- What can I do if I’m worried about my mental health
- Men & Mental Health
CHILDREN'S MENTAL HEALTH & WELL-BEING:
Brought to you by “CHANGING FACES” here are some recommended resources for children to promote diverity and inclusion: Inclusion & Diversity tools for children of different ages
From “Changing Faces –Diversity and inclusion books”
“When it comes to diversity and inclusion, books are a great way to introduce difference to children to from an early age. There are many picture books as well as children’s novels which explore a range of visible differences and disfigurements.”
Toys with a diverse and inclusive focus or range
“You might be surprised to learn that there are a range of children’s toys which cut through stereotypes and normalise difference – including Barbie and Ken dolls with vitiligo.”
Television programmes that promote diversity and inclusion
“Visible difference is becoming increasingly visible on our TV screens – and has even made it into the swashbuckling mythical world of How to Train Your Dragon!”
Visit your hospital through your phone!
“Little Journey supports children and their families before, during and after healthcare interactions, reducing anxiety through the use of our multi-award winning smartphone App.”
To take a look at their website & app please click here: Little Journey
Our Friends at Italian Macrodactyly and PROS Association: https://www.associazione-nazionale-macrodattilia.org/english/ & https://www.aibws.org/ have created a new animated video to help children to cope with medical examinations with awareness.
For this campaign, we partnered with Fastn and Leaders Unlocked, and schools involved in the Peer Education Project, to talk to young people about healthy relationships; what’s important, how they recognise, build and maintain healthy relationships, and how relationships can affect our mental health and wellbeing
A healthy relationship with ourselves or our peers can be built through kindness, care, trust, honesty and respect. Our research has found that being connected with ourselves and others in healthy and meaningful ways can help us support our own mental health and wellbeing, and that of others: Healthy Relationships
11-Year-Old Matthew Has Advice for Anyone Whose Sibling Has a Rare Disease Matthew and his older brother, Michael, enjoy goofing around together — just ask them what happened with a name tag at the National Institutes of Health!
Books About Inclusion and Diversity for Children and Youth This is a list of books that have diverse characters and stories and talk about differences.
This list is not exhaustive, nor are all the books on this list perfect. This is just a starting point.
We encourage you to seek out literature with diverse characters written by diverse voices.
Mental Health videos for children Great resource videos from MPSSocietyUK focusing on helping adults, children & young people with their mental health & wellbeing.
Mental Health videos for young people Great resource videos from MPSSocietyUK focusing on helping adults, children & young people with their mental health & wellbeing.
Saying goodbye to the Children’s Hospital
- Evren Ayik has acid sphingomyelinase deficiency (ASMD), for which he has received expert care from specialists at a children’s hospital in California. Now Evren has reached his twenties, the time has finally come for him to move on to an adult hospital. Evren’s mother, Kara, describes the emotional ups and downs of a fifteen-year-long journey and what it feels like to say goodbye to a place that will always hold a special place in her heart
7 Books featuring kids with rare diseases Families impacted by rare conditions may see their own experiences reflected back.It can be challenging for kids with rare diseases to see themselves in mainstream children’s books. Children with rare diseases may feel different than other children in all kinds of ways, and seeing stories that reflect their own experiences can make them feel better understood, and less alone. Fortunately, books about children with rare diseases aren’t as hard to find as they once were. Here are seven books that families impacted by rare conditions might want to check out.
Rare Youth Revolution “Powering up the voices of the youth rare disease community”
Coping with Unwanted Advice about Your Child’s Medical Condition– Suggestions on how you might deal with comments or advice that people sometimes like to offer!
Publications & resources for parents & caregivers of children with facial difference
Band-Aids & Blackboards – This is a site about growing up with medical problems. It’s goal is to help people understand what it’s like, from the perspective of the children and teens who are doing just that. These kids have become experts at coping with problems that most of you have never heard of & they’d like you to know how they do it.
CLOVES Syndrome support page – There are some great links on this page as well as 2 publications created for kids with CLOVES.
Improving Transition from Paediatric to Adult Care for Young People Living with a Rare Condition
How to nurture a child’s mental health
How to relax – a guide for young people who look different A great resource comes from Changing Faces “How to relax – a guide for young people who look different.” From their website: “If you feel anxiety because you look different, it’s important to find ways to relax and feel calmer.”
Children’s Mental Health Week This is a great site full of resources that can be adapted for various settings. Growth Stories: to help start a conversation about growth and the different challenges we may face.
Life with a rare disease can undoubtedly be challenging, beginning with the road to diagnosis, which is typically long, confusing and exhausting. Worries about health, treatments, finances and the future can
dominate. Many rare conditions are life-limiting with complex and degenerative symptoms, and the majority have no effective
treatment or cure. Most rare diseases are diagnosed in childhood, and many are genetic. A rare disease diagnosis affects not
just the individual but the whole family. It inevitably alters family dynamics and can completely change the life path a family had planned and set out on. The impact and burden are felt by all.
See document here: The Impact of Rare Disease on Siblings
EXPLAINING PROS TO CHILDREN: Please see the following links from Novartis: https://www.understandingpros.com/talking-about-pros/
“The PROS” Comic Book
Follow a team of superheroes-in-training called “The PROS,” who each have a unique PROS condition. Together with their teacher, Professor P, The PROS help other kids living with PROS find support and community. For ages 8 years and up.
The PROS Comic Book
PROS Pals Workbook – Making connections at school
This printable workbook is full of fun and engaging activities, like fill-in-the-blanks, coloring, and connect-the-dots, that are designed for your child to complete with a peer to help them build shared understanding, empathy, and friendship. For ages 5 years and up.
PROS Pals Workbook
Glossary of PROS Terms
Does your child have questions about PROS terms or some of the words they hear at doctors’ appointments? This glossary includes easy-to-understand definitions of common PROS medical and diagnostic terms. For ages 8 years and up.
Glossary Of Terms
Navigate conversations about PROS
The way you and your child discuss PROS with others will vary depending on whom you are speaking with and the goal of the conversation. The following 3 guides will help you effectively communicate at home, school, and the doctor’s office.
Talking About PROS
Not sure how to explain PROS? Want to share your experiences or explain why you don’t feel like answering questions? This guide includes tips for how to have effective conversations about PROS. For ages 12 years and up.
Talking About PROS
Talking About PROS at Home
PROS impacts the whole family. Check out these tips for starting a conversation with your children about PROS. For parents/caregivers.
Talking About PROS At Home
Talking About PROS at School
Classmates and teachers often have questions about PROS. This printable note card includes tips to help children decide what they want to share about PROS. For ages 8 years and up.
Talking About PROS At School
Talking About PROS at the Doctor’s Office
Make the most of upcoming appointments, and get tips for talking about PROS symptoms. For parents/caregivers and young adults.
Talking About PROS At The Doctors Office
School toolkit: explaining living with a rare disease to young children
Do you know a young child or a family who is dealing with acceptance and making friends at school? Are you a pre-school or kindergarten teacher, and a student in your class has a chronic health condition? Are you a parent or adult who believes in sharing the values of empathy and inclusion with young children? This website provides some great links & ideas to help: https://www.rarediseaseday.org/downloads/schools-toolkit-explaining-living-with-a-rare-disease-to-young-children/
For your use, please find the link to a children’s book, A Friendship Story, from established Serbian author Danijela Pešić, also known under her nom de plume Danijela Knez, who herself lives with a rare disease (Pulmonary Arterial Hypertension–PAH). She wrote this book inspired by her own childhood experiences. She collaborated with a children’s author on the project named Ivan Drajzl.
Download the PDF book in one of the following languages:
Albanian, Arabic, Catalan, English (UK), English (US), French, Finnish, Galician, Georgian, Greek, Hindi, Indonesian, Italian, Japanese, Latvian, Lithuanian, Macedonian, Mandarin, Portuguese (Brasil), Portuguese (Portugal), Romanian, Russian, Serbian, Spanish, Turkish, Ukrainian.
School toolkit: for children (7 to 8 year olds) School toolkit: for children (7 to 8 year olds)
Our lesson plan is adapted from a resource created by the Austrian teacher Manuel Preishuber, as part of a joint project between the Pädagogische Hochschule Salzburg and the Austrian national alliance of rare disease patient organisations, Pro-Rare Austria. Pädagogische Hochschule Salzburg provides a course for teachers and student teachers preparing them to teach about rare diseases. Together with the group activities, this lesson plan should help 7 and 8 years olds to better understand the isolation that some children with a rare disease may face. They will be able to engage with the story, discuss with the class and partake in fun activities. It will be a great starting point for them to reflect on their own. To use alongside our lesson plan and for additional use, please find below the link to a children’s book: Merlin, the Little Feline: Merlin, the Little Feline.
AMPUTATION & CHILDREN – HELPFUL RESOURCES:
- https://limbpower.com/
- https://amputeelawyer.com/information-for-parents-children/resources-to-help-children-understand-limb-loss/
- http://luckyfinproject.org/
- https://rehabpub.com/conditions/childrens-book-aims-help-describe-life-amputee-children/
- https://www.stepsworldwide.org/wp-content/uploads/2020/02/Planned-Amputation-A-Parents-guide.pdf
- https://www.amputee-coalition.org/resources/understand-limb-loss/
CLOTHING & SHOE COMPANIES:
Bespoke Shoe Maker – I have used this company myself for many years & they are extremely good at creating footwear for complex conditions. Based in Derbyshire, UK.
Clothing Solutions – I have used this company to make me a pair of combat trousers, something I always wanted growing up! Lovely people with a lot of knowledge. Based in Bradford, West Yorkshire.
REENA Tailoring: used by one of our GoPI3Ks members & comes highly recommended: Unit A, Wellfield Court, 31 Pen-Y-Lan Road, Cardiff CF24 3PG. Phone: 029 2045 2040 Email: reena.tailoring@gmail.com
CLOVES Syndrome footwear resource – A great resource of information on footwear available in the USA. From bespoke companies to advice on mainstream companies that offer extra wide footwear & those that also sell 2 different size shoes.
ACCESSIBILITY GUIDES:
AccessAble – Looking for access to such things as restaurants, cinema’s hotels, universities & more within the UK, then this is the site for you.