| European female 2.5 years | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | Turner Syndrome |
| Parts of body affected by œdema | both feet |
| Gender | Female |
| Age of onset | birth or before |
| Age of diagnosis | 3 months |
| Current age | 2.5 |
| Continent | Europe |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | the hardest part was the trembling, not knowing what the diagnosis actually meant. with the lymph problems, we initially asked ourselves whether she would be able to learn to walk at all. with turner syndrome, it is generally the case that you don’t know what problems will arise. |
| What practical things do you do to make your child’s lymphedema easier to manage? | we have toecaps caps and stockings. we also bandage her feet every evening. once a week we go to physiotherapy for lymphatic drainage and bandages. |
| Do you involve or encourage your child in their own self-care, and how? | i never force her to do anything. i try to get her to do everything voluntarily. so far it’s going well. i always try to do the bandages in a pleasant atmosphere. if it doesn’t fit, we sometimes skip a night. |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | our physiotherapist was very helpful. she helped me when i couldn’t be active myself because i still had to digest the diagnosis. even now she always thinks along with us and supports us. |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | Find a forum of like-minded people. Connection to a real specialist, e.g. Földiklinik. |
Category Archives: Stories
Story 5
| South American female 7 years | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | no genetic test was carried out, only lymphoscintigraphy |
| Parts of body affected by œdema | Right foot and toes |
| Gender | Female |
| Age of onset | Since birth |
| Age of diagnosis | 2 |
| Current age | 7 |
| Continent | South America |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | My daughter was born with both feet, a swollen abdomen and genitalia, and after imaging and soft tissue tests, at 7 days old, the pediatrician referred her to an angiologist, who taught her how to do a massage that was unknown to us, who said it was a cuddle, and didn’t explain much more than that. When she was 6 months old, the only swelling that remained was on her right foot and toes, and we continued to wait for advice from the doctor, who only wanted to see her every 6 months. When she was 18 months old, due to the shape of her nail and her swollen toes, her big toe became inflamed and the doctor requested plastic surgery to “correct” it. Two more attempts were made, which although there were no further complications of this kind, left a deformed toe and a nail that was broken in half growing. As a mother, I understood that what was happening was a demonstration of a total lack of empathy and interest in treatment, so I decided to search on Google: “babies with swollen feet”, and as I am a person who believes in science, I read the scientific articles available in the searches, and read that it was called “lymphedema”. I can say that this was the first obstacle I overcame, that of ignorance, because I managed to find a doctor, 400km away from our town, who diagnosed Alícia, and as well as explaining everything, told me that there was treatment, and that I wasn’t to blame for her condition. |
| What practical things do you do to make your child’s lymphedema easier to manage? | Shoes are still a terrible challenge. When we have an emergency, especially with frequent upper airway infections, lymphangitis, among other health issues, the pediatrician always gives prompt advice. I recently discovered a neurological malformation, so I’m always on the lookout for every change, comment, complaint and/or behavior. |
| Do you involve or encourage your child in their own self-care, and how? | Luckily, my daughter is a very intelligent girl and we talked about the importance of always using compression, so we managed better by being able to count on variety: bandages, tailored flat knit socks and tape. She’s already able to put the tape on in a basic way and put the sock on when I’m not around to help. She is fully aware of the volunteer work she does with Abralinfe, and likes to encourage other children to take care of themselves. We always post videos or take part in video calls with a mother and child |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | There were two important moments: the first was meeting people with lymphoedema, and then other families of children with lymphoedema, which took away the feeling that I was alone fighting all this; the second moment was when we founded the Brazilian Association of People with Lymphedema and their Families, Abralinfe, in March 2022, as well as learning a lot about lymphedema and being able to manage my daughter’s care, I began to have many contacts with doctors and physiotherapists, which ended up increasing the network of support and information that helps my daughter, both directly and indirectly. |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | Fortunately, many countries already have patient associations, so I think the first step is to get in touch with them, so that you have access to reliable information based on studies and scientific evidence about lymphedema, as well as access to events and the community. Supporting and strengthening patient associations is the best way forward, because they will represent you, your child, and all the people who need them in this fight; no one can make a change alone, and associations, without support and money, will cease to exist, even if they have volunteer workers, who are usually just the few managers, and who are also people like us, family members and patients. LEAVE THE WHATSAPP GROUP AND STRENGTHEN YOUR COUNTRY’S ASSOCIATION! |
Story 4
| European male 7 years | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | KIF11 |
| Parts of body affected by œdema | whole body, mainly toes and both feet |
| Gender | Male |
| Age of onset | birth |
| Age of diagnosis | 1 year |
| Current age | 7 years |
| Continent | Europe |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | KIF11 is a very rare gentic disorder. Online we couldn’t find a lot about the syndrome and also not about primary lymphedema and intestinale Lymphangiectasia. The feeling of being alone with the diagnosis was the worst feeling. With every new piece of information about lymphoedema, we became more confident in our everyday lives. |
| What practical things do you do to make your child’s lymphedema easier to manage? | During the summer time we are trying to go for a swim very regularly. For the winter time we bought a indoor trampolin to support him with good sport exercises. |
| Do you involve or encourage your child in their own self-care, and how? | Managing the lymphedema is one part in our daily routine, same like brushing his teeth. He is now able to say for himself whether he feels better with a bandage or compression stocking. |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | After the diagnosis, we were fortunately able to stay in an expert centre for 3 weeks. We learnt to bandage there. We also learnt to “read” his body and to manage it. That was good to learn the theory about lymphedema and to get first practical experience. But more helpful was to meet other parents with KIF11 kids (or other syndromes with primary lymphedema). |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | Connecting with other parents via our patient organisation was the key for us. Social media helps to find others parents if there is no patient organisation in place. We would like to say to newly affected families: relax. Lymphoedema can be managed well with a little routine and good information, even if it is a lifelong task. |
Story 3
| European male | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | Klippel Trennaunay Syndrome |
| Parts of body affected by œdema | Left Leg, foot, toes, botton and testicles |
| Gender | Male |
| Age of onset | Newborn |
| Age of diagnosis | |
| Current age | |
| Continent | Europe |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | Initially, the lack of answers from the professionals, their lack of interest in our unanswered questions, every day there were doubts about how to proceed and what to do to improve our son’s quality of life, what to do so that his condition didn’t worsen. With the diagnosis, the solution was not to give up researching until we got the answers or clarified our doubts. We then started another battle, to get personalized and really well-made elastic compression, as this is essential for maintaining is condition. It’s also very difficult to find footwear that fits the daily needs of lower limb lymphedema. Especially for growing children, this need is an almost monthly problem. |
| What practical things do you do to make your child’s lymphedema easier to manage? | Raise the feet of the bed. Warm water baths. Clothes that are loose, comfortable and made of cotton. Shoes one size up, with a wide base, and that can be laced up or Velcroed to suit your needs. Always moisturize your skin and keep your nails healthy. Avoid direct exposure to the sun, on the beach when lying in the sun cover your leg with a towel, preferably always wet. When traveling, try not to go without movement for too long. |
| Do you involve or encourage your child in their own self-care, and how? | He’s still very lazy in this respect. But he knows how to take care of his skin and nails. How to avoid situations of physical and psychological violence. He also does his own lymphatic drainage and knows how to put on his compression garment correctly. |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | Without a shadow of a doubt, the patients’ association is an incredible help, with a huge amount of experience in various fields, always able to help with advice on the most suitable clinical specialties for each situation and with great knowledge of the various situations that always arise. Psychological support is also essential. |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | Look for a supportive association, and always research reliable/scientifically accredited information. Never give up, but sometimes we need to take a break to recharge. |
Story 2
| European male 6 years | |
|---|---|
| Our question | Parents’ response |
| Type of primary lymphedema (if syndrome). If not known just write not known or no diagnostic test done | No known syndrome/no genetic test performed |
| Parts of body affected by œdema | Hands, forearms, right lower cheek, intestine |
| Gender | Male |
| Age of onset | From birth |
| Age of diagnosis | 6 months |
| Current age | 6 years |
| Continent | Europe |
| What was the hardest part learning about your child’s diagnosis and how did you overcome some of these obstacles? | Not knowing how the situation will evolve, possible future challenges linked to other children’s reactions. In general we have tried to have a positive and constructive approach, openly discussing things and supporting him in the journey of understanding the condition and how it may or may not limit his life. |
| What practical things do you do to make your child’s lymphedema easier to manage? | We massage and bandage almost every night, have adapted our family’s diet to accommodate some restrictions that affect him |
| Do you involve or encourage your child in their own self-care, and how? | We have educated him about wht he should and should not eat, so he can make correct choices when we are not there. He is still too young to manage self bandaging. He is aware of the importance of skin care but again a little too young to be consistent in applying the rules. |
| What support functions (i.e. medical professional, patient association, school) has been the most helpful to you and your family? | Contact with other parents through a patient association has been valuable as well as gradually building a support network around us with a group of doctors, physiotherapists, and compressive garment suppliers we trust and rely on for guidance and therapy. |
| What advice would you give other parents who are at the start of the journey, just learning about the diagnosis? | I would strongly advise them to focus on the good, look at the positives and enjoy every day with your child beyond the condition. I often find that the approach from those around us (other parents, medical professional etc.) has been focussed on the negatives, the challenges and the obstacles but as parents we are conditioned by this attitude and are not encouraged to focus on how great life can be for our family regardless of the condition that affects our children. |
Didi Okoh
DIdi Okoh is a British athlete selected for the British 2024 team who suffers from lymphoedema in her left leg. As you will see she has not let it hinder her progress and performance. She is due to run on Saturday 7th September…
and LinkedIn
Didi Okoh’s training also receives a mention on LinkedIn
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.
Ambassadors
At the recent camp held in June 2024 near Montpellier we appointed three young people as ambassadors for the exchange of ideas and information, and promotion of good practice amongst young people.
These three and some others will communicate in a WhatsApp Group. If you would like to join the group, please let us know. Parents too are invited to join their own WhatsApp group. We may have groups available in different languages. Please contact us if you would like more information.
French camp 2024
We have been asked to say a little more about the forthcoming camp in Languedoc. News comes out slowly, but we shall add to it here. For our first educational video, please watch the stories of nine of our young people:
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.