One in a Million
Jana writes about her experience living with moyomoya and where she is now.
My name is Jana and I am currently in my third semester studying psychology. I have a deep love for the mountains, as they provide me with a sense of safety. I do enjoy outdoor activities, such as hiking and climbing and I am a member of a ski racing team. Skiing holds a significant place in my life, as well as spending time with my friends. Although this may seem normal, something was amiss.
A few years ago, I began to experience fever, exhaustion, headaches, weight loss, and had to miss school even though I loved attending. Despite multiple visits to the doctor, no one was able to explain my symptoms. Although they found high blood pressure, the doctors thought it may be psychological. They never spoke to me directly about it, but my school suggested I go through a psychological examination as I was attending school less and less.
The psychologist took my case seriously and found no psychological cause. He recommended I persist in following up with the doctors until I received a clear answer. I was grateful for his belief in me. My pediatrician and cardiologist then prescribed blood pressure medication. But on a school trip, I lost consciousness multiple times on the bus ride back and an ambulance had to be called. I was admitted to a children's hospital, where I was diagnosed with possible long QT syndrome (LQTS).
LQTS is a heart condition that causes prolonged QT intervals on an electrocardiogram, leading to abnormal heart rhythms and increased risk of sudden cardiac death.
A few weeks later, I went back to school and was supposed to take a chemistry test. But, shortly before, I could not feel or move my right arm. I was still eager to take the test, but my teacher called the paramedic. Instead of a chemistry grade, I was in the hospital and diagnosed with moyamoya and a small stroke, caused by the blood pressure medication I was given previously, as it was unable to supply enough oxygen to my brain due to the new moyamoya diagnosis
Moyamoya is a rare blood vessel disorder causing the blood vessels in the brain to become narrowed or blocked. This can lead to a lack of blood flow to the brain, which can cause strokes, seizures and other neurological problems.
Because moyamoya is so rare, it took me 3 years to get the right diagnosis. That’s the reason why moyamoya often is first discovered when the patient suffers a stroke (like in my case) or a brain bleed. Normally moyamoya is diagnosed in really young children or about the age of 30 years. For me, it was a few days after my 17th birthday and instead of going to school, I was searching for a specialist to have brain surgery.
The type of surgery for moyamoya is a procedure called revascularization surgery. It involves creating new blood vessels to bypass the narrowed or blocked blood vessels in the brain. There are two main types of revascularization surgery: direct and indirect. I got
direct revascularization surgery, which involves connecting a healthy blood vessel from the scalp or the neck directly to the brain. This creates a new pathway for blood to flow to the brain and bypasses the narrowed or blocked blood vessels.
Surgery for moyamoya is a complex and serious procedure and it is not suitable for all patients. The decision to have surgery is based on several factors, including the patient's age, overall health and the severity of their symptoms. Thankfully, my surgery went well without major complications, but the recovery process was challenging.
At first, I struggled with concentration and writing, frequently making mistakes with words and messing up the order of letters. I also experienced difficulty in naming objects, even though I somehow knew the names in my head. I had limited endurance and suffered from intense headaches. It took me approximately four months and a lot of rehab to regain my strength and return to school, starting with only two classes per day. My main goal this entire time was to graduate from school, as I did not want to repeat the classes and wanted to stay with my friends.
My teachers initially believed it would be impossible due to my nearly year-long absence from school and the lack of accommodations for exams. However, I persevered and relied on self-study and support from hospital teachers, who visited me during my good days. My school eventually began streaming classes for me as well. I am proud and grateful to have graduated with one of the top grades and thank my teachers for supporting me to achieve this goal.
However, as if having one rare disease wasn't challenging enough, I was diagnosed with two additional bleeding disorders, which were easier to diagnose and were identified prior to my moyamoya diagnosis.
Von Willebrand disease and factor 13 are both bleeding disorders that affect the blood's ability to clot. People with these conditions may experience excessive bleeding after an injury, surgery, or dental work. There is not really a cure for either conditions, but treatment options include medications to help the blood clot and replacement therapy to replace the missing clotting factor.
Living with these conditions can be difficult, but there are ways to manage them and lead a fulfilling life. For instance, those with moyamoya may need to be cautious with activities that increase the risk of bleeding, such as contact sports or high-impact activities, similarly to those with Von Willebrand and factor 13. Due to my bleeding disorders, managing moyamoya can be difficult as there are limited references and it often requires a process of trial and error. If you or someone you know has been diagnosed with one of these conditions, it is important to work closely with healthcare providers and educate yourself about the condition.
Despite this, I am able to engage in activities such as gymnastics and skiing, but I just need to be more careful and aware of my limits. This is made possible by the effectiveness of my replacement therapy. Although some of my doctors are not super pleased with me skiing down some mountains, they have told me that as long as I am aware of the risks and enjoy it, they support me.
During the tough times, my family and friends provided unwavering support. I was able to create some of the best experiences of my life and now cherish them, no matter what the future holds. My illnesses have become a part of who I am, and I am completely at peace with that. The happiness derived from moments spent with loved ones is the greatest reward and of course being able to ski!