Category Archives: English
A parent’s journey – 1
| European male 20 years | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | Gata2 Immune deficiency |
| Parts of body affected by œdema | From abdomen and down, in both legs |
| Gender | male |
| Age of onset | 6 |
| Age of diagnosis | 7 ( and gata2 at 13 y) |
| Current age | 20 |
| Continent | Europe |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | Lack of information and lack of networks, rare diseases means you are completely on your own without any networks or supportive organisations/association. No uniform information of what is the best practice and treatment, especially if you experience symptoms differently than other patients. |
| What practical things do you do to make your child’s lymphedema easier to manage? | In the beginning I had to sew pants myself, now- luckily – fashion allow us to by wide legged women’s trouser (unisex looking 😉) from some stores. Have medication ready if infection occurs. I did learn how to do manual drainage. Now I try to activate him. |
| Do you involve or encourage your child in their own self-care, and how? | I try to motivate him to choose healthy food, do sports and to take care of his skin by e.g. apply crème. I still do a lot in order to allow my son to be a young man going to school. He needs to live a “ normal” life and I supports as much as possible |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | Mostly, parents to other young people with rare diseases. They are the experts in living with rare diseases and gives the best support and understanding of the challenges we face daily, we also share practical issues like getting reimbursement and the necessary help |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | Keep searching for answers, and try to find other families to exchange practical information and advice. |
We remind our reader that the above is the patients’ story. It is not medical advice.
Further information is available from:
Our response:
GATA2 loss of function mutations lead to an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia and immune deficiency. It means that if such a mutation is identified, then a specialized haematological advice and follow up is required as well as the detection of the carriers of the mutation within the family as specific preventive management is possible.
It’s Not Bad
Written by Jamie Gaddis Stephens (Author), Jessica Gaddis English (Editor) It’s Not Bad dives into what is called, lymphœdema. Primary lymphœdema affects children all around the world but it is a rare condition. This story is geared towards children who struggle with understanding their disease.
Available from the Jo Rising Foundation
Super Nan and the Secret Support Network
What happens when children see your lymphœdema for the first time? How do you deal with it? How do they deal with it?
Michelle Freke’s book explores these questions in a child friendly, super-hero type way.
The Big Book of Lymphœdema
Stora boken om lymfödem är speciellt riktad till barn. Den förklarar på ett lättförståeligt sätt vad lymfödem är och hur det kan behandlas. – SÖF
Författare är Dr Jacquelyne Todd 
ISBN 978-91-637-2163-2
The award-winning children’s book The Big Book of Lymphoedema aims to help children and families understand the condition by presenting useful information in a colourful, eye-catching and child-friendly format. Originally launched in April 2010, the book was written by Dr Jacquelyne Todd, who was a physiotherapist consultant in lymphoedema at The Leeds Teaching Hospitals NHS Trust, before she retired in 2013. A new edition with subtle updates is available from the LSN.
Getting the Treatment Right
Published by BLS on its YouTube channel:
The British Lymphology Society exists to preserve and protect good health of people living with lymphoedema / chronic oedema. Lymphoedema occurs when the lymphatic drainage system fails; chronic oedema is indicative of failure of lymphatic drainage. Both of these terms are used interchangeably to emphasise the need to manage both the initial cause of the chronic oedema and the lymphatic failure concurrently.
thebls.com
Genetics and Primary Lymphœdema: Q&A
Published by VASCERN on their YouTube channel:
VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases, currently gathers 31 highly specialized multidisciplinary expert teams from 26 Healthcare providers (HCPs) and 7 affiliated partners HCPs coming from 16 EU Member States, and various European Patient Organisations. VASCERN is coordinated by Prof. Guillaume Jondeau, Cardiologist and Coordinator of the Centre of Reference for Marfan Syndrome and related disorders, AP-HP Hôpital Bichat, Paris, France.
Lymphœdema – a teenager’s perspective
Published by VASCERN on their YouTube channel:
VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases, currently gathers 31 highly specialized multidisciplinary expert teams from 26 Healthcare providers (HCPs) and 7 affiliated partners HCPs coming from 16 EU Member States, and various European Patient Organisations. VASCERN is coordinated by Prof. Guillaume Jondeau, Cardiologist and Coordinator of the Centre of Reference for Marfan Syndrome and related disorders, AP-HP Hôpital Bichat, Paris, France.
Genetic Testing for primary lymphœdema – a mother’s perspective
Published by VASCERN on their YouTube channel:
VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases, currently gathers 31 highly specialized multidisciplinary expert teams from 26 Healthcare providers (HCPs) and 7 affiliated partners HCPs coming from 16 EU Member States, and various European Patient Organisations. VASCERN is coordinated by Prof. Guillaume Jondeau, Cardiologist and Coordinator of the Centre of Reference for Marfan Syndrome and related disorders, AP-HP Hôpital Bichat, Paris, France.
What do you need to know?
Published by Lymphie Strong on its YouTube channel:
Lymphie Strong – A Lymphœdema Support Community – is an online resource for people with lymphœdema by people with lymphœdema who know from first hand experience how challenging living with chronic swelling can be and how it impacts your life in both big and small ways.
lymphiestrong.com