 Let me share our story with you. Our family lives in Moscow, Russia. My elder son Dmitry is now 8 years old. He was born July 30, 2005. The pregnancy went fine; Dmitry was born on time, and during his yearly childhood he hadn’t have any health problems except of common baby infections and one case of allergic reaction. He grew and developed normally, went to a kindergarten, and we had nothing to worry about. The only problem we had was occasional nasal bleedings, but we didn’t pay much attention on them, and so did his teachers. In August 2011, when Dmitry just turned 6, after an ordinary viral infection we detected a small red mark under his left eye. First we thought that he just rubbed his eye, but the mark didn’t disappear, moreover, it started to grow. Our local pediatrician noticed the red stain too, but she couldn’t help us, so she referred us to other specialists: an ophthalmologist, an otolaryngologist, a dermatologist… Eventually we had appointments with all the best doctors in Moscow, and every doctor we met couldn’t say anything, shrugged his shoulders, and made more referrals to his colleagues. Dmitry passed though all possible tests, examinations and diagnostic procedures, and happily everything was fine, but we weren’t able to get the diagnosis. All doctors were fairly surprised that our son hadn’t suffer any symptoms before he turned 6, and that he didn’t have any pain or discomfort at that point. Meanwhile the lesion started growing and darkening, and new lesions appeared on his left cheek, neck, near his nose, then on the upper and lower lip, nasal mucosa, gums and palate. Lesions increased, the face became swollen, asymmetric, and the mouth was crooked. Finally in spring 2012 an experienced professor of clinical dermatology assumed that Dmitry might have a vascular anomaly. We were referred to a vascular surgeon in a children’s hospital who diagnosed our son with a port wine stain (PWS, a capillary malformation). He offered us to wait till Dmitry turns 13, and then find a cosmetologist and start laser treatment at our own expense, because our country doesn’t pay for this sort of treatment. At that time we were very happy because we finally knew what to expect. We didn’t want to wait so long, so we started looking for laser specialists and reading patients’ stories. We had several appointments with other vascular specialists and all of them confirmed the diagnosis and offered different treatment plans. We ended by finding the Vascular Birthmark Organization web site and talking to its Russian representative Olga Bachuk. She referred us to the best Russian laser specialist – Tatiana Belysheva, an oncologist and dermatologist at the Russian Oncology Center. We got an appointment with her and wanted to start the treatment right away. When Dr Belysheva saw Dmitry she said that the thing on his face is definitely not a port wine stain. She saw thousands of children with PWS and all of them had these marks since birth, and their marks looked quite different. At the same time she was a bit confused with our case, because it seemed very rare, so she decided to consult another doctors from abroad to get the proper diagnosis. Her colleagues from the USA, world-famous vascular specialists, suggested us to get an MRI with contrast and MRA. When we got the results, we finally knew the correct diagnosis of our son: diffuse face and neck arteriovenous malformation (AVM), type IIIa stage 1. AVM is a congenital vascular anomaly – a missing capillary bed and direct connection between arteries and veins. Affected vessels are dilated and fragile, new vessels get involved, and the malformation grows over time. This disease in very rare (occurring in 1 per 100000 people), and may affect various parts of head or body. Cutaneous AV malformations look like red, hot and pulsating stains, constantly growing and expanding. AVMs are always congenital, but in early childhood they are often undetected. Arteriovenous malformations may dramatically grow, especially during adolescence or as a result of a trauma or wrong treatment. They are often first misdiagnosed as a hemangioma or a port wine stain, as it happened with my son, but unlike hemangioma AVM never resolves by itself, and it consistently grows, unlike PWS, from stage 1 to stage 4, causing pain, severe arterial bleedings, tissue necrosis and heart failure. Treatment of complex AVM is a life-long challenge, especially in face area; it includes transarterial embolization, sclerotherapy, surgical excision, laser procedures and medications. There are only few doctors in the world that have significant experience with AVMs, and it’s crucially important to find such a doctor who won’t make fatal mistakes during treatment. Most Russian doctors insist on the misdiagnosis (a PWS) and only offer us laser treatment that is dangerous in our case. Others confirm the diagnosis of AVM, but cannot offer us appropriate treatment. The only way is seeking treatment abroad. In March 2013 Dmitry and I visited Marburg University Clinic, Germany. They performed another MRI, Doppler scan, and angiogram. A team of doctors examined my son and confirmed the diagnosis: an early stage of a face and neck AVM. Results of diagnostics were also reviewed by a multidisciplinary team of Vascular Anomalies Center in Boston Children’s Hospital. Boston team confirmed the diagnosis too but didn’t offer us any treatment. In April 2013 Dr Eivazi presented our case during the 4th International Symposium on hemangiomas and vascular malformations of the head and neck in Little Rock, Arkansas. Dr Richter, the head of the Arkansas Children’s Hospital Vascular Anomalies Center, noticed it and offered his help. His colleagues (among them Dr Suen, a pioneer in head and neck vascular anomalies treatment) have been researching and managing facial AVMs for many years. They have really good results with in AVM treatment in their clinic due to advanced methods and extensive experience.Dr Richter sees children with AVMs similar to Dmitry’s almost every day. Many of them were treated and cured. In our case he’s optimistic too. Arkansas Children’s Hospital has sent us a cost estimate for the first visit (diagnostics and treatment) which amounts to 28600 USD. We anticipate more clinic appointments in the coming months to continue the treatment which promises to be long and complicated. The required money is just too much of our family. We have another child who is only 3 years old, an old grandfather and an orphaned nephew who is a student and still depends on our help. My husband and I both work full time and save as much money as we can, but yet we have to ask for help. I do hope Dr Richter ad his team will help my little son. Today his AVM isn’t growing so fast, but it started bleeding, and it scares me very much. Once he had a spontaneous bleeding from the affected lip, another time his cheek spurted blood again for no reason. I could stop the bleed by applying pressure, but I’m afraid that the next bleeding could be more extensive. We cannot wait anymore. Dmitry is such a good boy, very smart, kind and handsome, always ready to help. He loves reading books, does well at school, and adores his younger brother. Despite his defect he makes friend very easy and takes part in every activity on playgrounds. We try to stay strong and optimistic and live a normal life. But all these everyday questions "What’s up with your face?” hurt my son very much, although he tries not to show it. And I’m so worried about his future. Dmitry will be growing up (I’m terrified about adolescence and hormone changes), loosing his baby teeth (cannot forget about possible massive bleedings), he might be injured during a game, or be bullied at school… My son does need to be treated soon. We've got our first appointment in ARCH scheduled on January 13, 2014, and angiogram and embolization on January 16. Then on January 17 Dr Richter is planning to perform surgery and laser procedures. We're flying to the US on January 11 and coming back home on January 26 if everything goes fine. Thanks to you all, my dear friend and supporters, we were able to pay for the first treatment session and now we just need to wait and hope for good results. |
