I’m Ioana from Romania, the mother of 7-year-old Maya and this is our story. At the age of 1, we noticed a small bump in the right inguinal area, we first went for an ultrasound, then MRI and after some months we had the first diagnosis: hemangioma (even now I laugh about it). After that she was diagnosed with arteriovenous fistulas and was set for an embolization procedure. During the procedure they confirmed that all her vascular parts were OK, and the bump was a microcystic lymphatic malformation. We went to Berlin to the Center for Vascular Malformations Eberswalde where we were told to monitor it and wear a compression garment. The inguinal bump started to grow more over the years. Four years later, it now affects her right leg and foot.
We started to look on the internet for lymphatic specialists and found one in Paris. Here they did a lymph node transplant a year ago and we were scheduled to do an anastomosis procedure in her leg this year. In the meantime, Maya’s affected leg started to present varicose veins and we started to question again if her latest diagnosis, congenital lymphedema, is the correct one.
We had heard of Dr. Lopez Gutierrez through the LGDA before the pandemic, but we decided then that a diagnosis regarding which type of malformation she has does not help, since there is no cure. After so many failed attempts at finding the correct diagnosis, we gave ourselves time to reset and then decided to have genetic testing done to find out her exact diagnosis. So, we visited Dr. Lopez Gutierrez some weeks ago, in Madrid, and he gave us 100 % the diagnosis of CCLA with chylous reflux. He said genetics won’t help further since he has a quite recent solution for us. He recommended a lymphovenous anastomosis procedure but in the abdominal area where the problem actually lies. Apparently, only a few plastic surgeons have mastered this new technique of microsurgery in children. There are some known surgeons in the USA and Japan. We are from Europe and would have liked to find someone here with experience in CLAs and that has already performed such surgeries. If you know of anyone that fits this profile that has fully managed to treat the damaged lymph vessels in the thoracic area in children, please do share the information by emailing support@lgdalliance.org.
It took us over 5 years to find a diagnosis but here we are, we now have a possible treatment that we had no idea about. Learn from our experience, do not stop until you find a diagnosis, only then are you on the right path. We understand there is always a risk to surgery, but we will never stop trying and testing and looking for solutions to stop this disease from evolving, creating psychological damage, and being at risk of internal leaks that are hard, or sometimes impossible, to stop.
If you are still seeking a diagnosis for your child, I recommend you contact LGDA to locate a specialist near you. Do not waste time like we did!
