The personal story of Niklas from Austria: he is not letting his disease holding him back

12 January 2023

Niklas was born in 2016 with Diffuse Capillary Malformation with Overgrowth (DCMO). The main problem at the moment is the length difference between his legs. However, this is not holding him back of having a very active life. Niklas is a boy of around 7 years and has DCMO resulting in his case in a leg length difference. How does he, and his parents, deal with this?

When Niklas was born in February 2016, he had large red/purple spots on his right foot, leg, buttocks and lower back. The dermatologist told us the next day that he thought he had seen something like this in a book and that he thought it could be CMTC. But he also immediately admitted that he had no idea and had never seen anything like it.

We then went looking ourselves and found Lex van der Heijden with his group CMTC-OVM on Facebook. He immediately did his best to answer our questions and invited us to the CMTC-OVM member’s conference in the Netherlands. In October 2016 we flew to the Netherlands and received from Dr. Peter de Laat is diagnosed with Diffuse Capillary Malformation with Overgrowth (DCMO).

Back in Austria, we were mainly confronted with doctors who could not do anything with the diagnosis and in fact, we always had the feeling that the doctors were not interested in DCMO. Prior to each doctor’s appointment, we said our child had DCMO and provided the contact details of Dr. Peter de Laat so that the doctors could inquire about DCMO before our appointment. But this has never been used.

In Vienna General Hospital they wanted to persuade us to use laser therapy. However, we only read in the Facebook groups that this is not recommended and is very painful. Because Niklas’s spots are very large and secondly that he likes his spots very much and considers them part of himself, that was not an option for us.
During the ultrasound examination of his spots and internal organs, the doctor told us that everything looked normal and that she could not see any abnormalities. But our gut again told us that this doctor had not received any information about DCMO in advance, so we went looking for another radiologist.

Subsequently, a call was made throughout Austria via ProRare Austria (the Austrian organization for rare diseases) to find a radiologist who already has experience with DCMO. So we came to a great radiologist in Salzburg with whom we now feel very well looked after. Dr. Waldenberger even lectures on vascular diseases. So he knows what DCMO means and what to look at. He discovered AV shunts (short circuits between arteries and veins) and referred us to a pediatric cardiologist.

At the moment, Niklas spots are fully visible as at birth. He is now 5 years old (2021) and currently has a leg length difference of almost 2 cm. He gets a sole correction from the shoemaker with every shoe and is good at it. He will undergo an orthopaedic examination once a year and at some point, surgery will be required to compensate for the difference in leg length. We also drive once a year to the radiologist in Salzburg and to the pediatric cardiologist. As soon as we can all travel freely again (COVID-19), we look forward to participating again in the CMTC-OVM member’s conference in the Netherlands to exchange knowledge and experiences with other affected families.

Niklas is doing very well so far and he wears his spots with great pride! From the beginning, we try to strengthen his leg muscles. Since he was 2 years old, he has been going archery with us at least once a week and he can easily walk for 2-3 hours in the forest. At the age of 3, he could swim and cycle without training wheels. We always try to show him that he can do anything, as long as he has fun. So far he is a very confident child and hopefully, it will stay that way! We are very grateful to have him.

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Discover more about CMTC-OVM:

CMTC-OVM is a worldwide non-profit patient organization that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC (‘Van Lohuizen syndrome’), and stimulate scientific research on these disorders.

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