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For families whose children live with Paediatric and Primary Lymphoedema

One families journey of living with a rare disease

An interview with Sebastian’s mother by Pernille Henriksen (@the_lympha)

Published by Gaynor Leech: Founder of L-W-O Community

 

The first few steps in the journey of a rare disease

 

It was March 2018 when my youngest son Sebastian was born. He has congenital lymphoedema. Nobody in the hospital had ever seen anything similar including the midwife with 40 years’ experience. There was no evidence on the ultrasound scan that Sebastian had lymphoedema in his hands. It is normal that they look closely at the hands, to count fingers, but the obstetrician did not find anything out of the ordinary. And perhaps it was for the best. It was better for me not to worry.

As he was born it was evident that his hands were swollen and part of the arms as well. They took him away immediately after the birth to do comprehensive tests and only after one day did, I get him back in my arms. I stayed six days in the hospital, so they were able to perform more test. The original perception that his swelling was due to a wrong position in the uterus was dismissed.

By coincidence, the hospital where I gave birth was also an expert centre for hand surgery. A physiotherapist, head of Modena Hospital hand rehabilitation, was consulted and manual lymphatic drainage (MLD) was proposed as though his swelling was hard it was surely a lymphatic problem.

We were told to consult a rheumatologist in Genova (at Gaslini paediatric hospital) to see if his condition was related to an autoimmune disorder. They checked for faecal calprotectin to see if there was leakage from the intestine. They found no evidence of such problem.

When Sebastian was about 1 month old a paediatric dermatologist, who had researched into the matter, suggested that he might have Milroy Syndrome and to get it checked. In May 2018, a genetic test was done for FLT4, VEGFC and GJC2 genes and in January 2019 it was concluded that he had by exclusion 70% chance of not having Milroy Syndrome.

In May of 2018 we had started physiotherapy with MLD once or twice a week at the hospital, but the therapist was not specialised in lymphedema but rather other paediatric conditions. So, by fortune we came across a therapist who had primary lymphoedema herself and who had trained at the Földi clinic in Germany. Sebastian then had MLD on a more consistent level and trained me in doing it as well. As he had his afternoon nap, I would massage him for one hour every day, and it helped. This therapist also knew of Italian experts in lymphoedema and guided us to Genova.

At a hospital in Genova we were told to also incorporate bandaging however we did not know how to do so ourselves. Which is how we then met (in December 2018) a physiotherapist at the referral centre for rare diseases in Turin who suggested to start as soon as possible bandaging sessions. In January 2019 we got all the materials we needed and together with a passionate physiotherapist. we were recommended in our own area. we learned how to bandage. We could then continue the treatments at home. She would bandage Sebastian once or twice a week in the clinic and then we could do it at night. His oedema improved a lot.

In February 2019 we did a magnetic resonance imaging (MRI) and it seems his lymphoedema is contained in his upper body – arms and hands. When Sebastian is older, they will do a lymphoscintigraphy.

Now he is followed by the centre for rare paediatric diseases in Bologna and they organise any tests he needs to have done. He does take prophylactic dose of antibacterial for a lymphocyte’s subpopulations unbalance.

In May 2019, through a French professor specialized in lymphedema, we sent our blood sample together with Sebastian’s to have a in depth genetic analysis at a Belgian clinic. But we are still waiting for the results. Sebastian did a genetic test in June 2019 in Bologna too, but again we are still waiting for the results.

 

He is susceptible to bronchitis and is followed by a pulmonologist

 

With regards to compression, we tried when he was 3 months old to get made to measure flat knit but it was not working well. It was impossible to get on him. We are now bandaging during the night and allowing him to use his hands and fingers during the day to encourage his development. He has a strong grip and use his hands well. We are always looking to improve the bandaging techniques and seek the advice of experts we are fortunate to meet.

In 2019 we attended our first summer camp for children with lymphoedema organised by CMID, Co-ordination Centre of Piedmont and Aosta Valley Interregional Network for rare diseases, where we connected with other families. Reaching out to others is extremely helpful. This year we have been again – to learn even more and be able to apply these learnings at home.

My advice to other parents is to not underestimate the problem – not to look at this as an aesthetic problem. It is not. Do the treatments which are needed. Seek out patient associations that can support you. Primary lymphoedema is already rare and congenital even more so.

 

Look for information – educate yourself

 

My sons attend the same school and as Sebastian started nursery, I had a meeting with the parents of the class of my oldest son. I explained to them that it was normal for the other children to ask questions about the little brother…that the children would wonder. I asked that they did not dismiss the questions or told them made up stories about how he was going to get over it or that it was nothing. I asked the parents to explain to their children that Sebastian is not different. He is special. Just like everybody else. Those with curly hair, brown eyes, long legs. His characteristic is just larger hands.

 

Two Brothers supporting each other

 

 

Thank you to Sebastian’s mother for sharing the first steps of his story. We wish the family all the best and promise them that the community will take good care of Sebastian once he sets his steps in the adult world.

For more information on primary lymphoedema these links can be useful

https://vascern.eu/

https://rarediseases.org/rare-diseases/hereditary-lymphedema/

https://www.rareconnect.org/en

https://www.orpha.net/consor/cgi-bin/index.php?lng=EN

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