Reaching for a cure

A Journey of Determination and Hope: Ioana & Maya's Story

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.  

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 visit Dr. Lopez Gutierrez, he is known for his expertise in diagnosing lymphatic disorders. Do not waste time like we did! 

Becca - Mum to Libby, aged 3, diagnosed with KLA

Hi, my name is Becca, and I’m a parent from Southeast England My daughter, Libby, is three years old, and I want to share our journey with her rare disease, KLA (kaposiform lymphangiomatosis). It all began in June 2021 when Libby was just 14 months old. Libby’s symptoms started with a persistent cough that worsened over time. As concerned parents, we visited our GP, who initially attributed it to asthma. However, when Libby’s condition deteriorated, marked by breathlessness and unsettling grunting noises, we knew something more profound was at play. On June 14 2021, our instincts led us to our local A&E, where Libby was diagnosed with pneumonia. Within 24 hours, the severity of her condition prompted an urgent transfer to Evelina Children’s Hospital in London.

Little did we know that this would be the beginning of a tumultuous journey. Complications arose, and Libby suffered a cardiac arrest, leading to her placement on ECMO life support for six critical days. A stroke further complicated matters. The medical team, unfamiliar with KLA, consulted specialists in the United States for guidance.

The journey at Evelina involved draining 2 1/2 liters of lymphatic fluid from Libby’s body, revealing the severity of the internal drowning she had experienced. Initially diagnosed with GLA, subsequent genetic testing confirmed KLA.  Libby’s medical team, recognizing their limited expertise, transferred her to Great Ormond Street Hospital, where a dedicated hematology team well-versed in complex lymphatic anomalies took charge of her care.

Our introduction to genetic testing happened swiftly at Evelina. Amidst the chaos of surgeries and life-saving interventions, Libby’s tissue was collected for testing. The urgency was palpable as her life hung in the balance, and a precise diagnosis was imperative for tailored treatment.  Libby’s genetic mutation, NRAS, guided her treatment journey. Sirolimus initially showed promise in controlling her condition, but the turning point came when trametinib, a more specific targeted therapy for NRAS, became available in April.

As a parent navigating uncharted waters, the significance of genetic testing became clear. It not only confirmed the diagnosis but paved the way for targeted therapies like trametinib. Libby’s response to treatment has been encouraging, with upcoming scans offering insights into the progress of her KLA.

While our story remains incomplete, and the future uncertain, hope radiates through Libby’s resilience. Genetic testing, though daunting, proved indispensable in guiding her treatment and offering a lifeline. To fellow parents facing similar challenges, I encourage seeking genetic testing, connecting with experts, and exploring available resources, such as the LGDA (Lymphangiomatosis & Gorham’s Disease Alliance).

Libby’s journey underscores the importance of collaboration between parents, medical professionals, and support networks. Together, we forge a path toward brighter futures, driven by hope, research, and the unwavering strength of our children.