| 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.