Through the Eyes of Sturge-Weber Syndrome, Port-Wine Stains, and Glaucoma
What have you been diagnosed with?
How did you first notice something was wrong with your health?
When I was first born my parents noticed my skin was very red and my right eye was a lot larger than my left.
How did you go about seeking a diagnosis?
Via my GP who then referred me to the specialists for each condition.
How long did it take for you to receive a diagnosis?
I was diagnosed with Glaucoma, Sturge-Weber Syndrome and Port-Wine Stain Birthmarks at 12 weeks old, but due to the complexity of my condition it wasn’t until I was 18 via further genetic testing that I was diagnosed with the Sturge-Weber Syndrome.
How did you feel when you received your diagnosis?
Due to being so young when I had my initial diagnosis, I’ve never known anything different. But when I got older, and started sharing my journey online, I found other people of similar ages and experiences growing up with a visible difference, like a birthmark, who I could relate to. It’s reassuring to know it wasn’t just me going through those experiences of dealing with hospital visits and operations at such a young age, as it did feel quite isolating, and it made me feel different to my peers.
How did you communicate your diagnosis with your loved ones?
My family has always been very supportive of me and my conditions. Through every operation and procedure, they have always been there on my journey.
What treatments have you undergone and how have they impacted you?
I’ve had lots of different procedures and operations for my conditions, but I think the main two which has impacted my life the most are my Glaucoma surgeries and laser treatments. For the Glaucoma, I’ve had had two muscle release surgeries on my right eye when I was a baby and then a trabeculectomy surgery in both eyes at ages eight and nine, as by then I had also developed Glaucoma in my left eye. These surgeries helped to save the majority of my sight and keep my eye pressures low. For the birthmark I’ve only had pulsed dye laser treatment which is used to reduce the pigmentation of a birthmark. This type of treatment will never fully remove a birthmark, but it just lightens the colouration. So far, I’ve had 15 lots of this, with the first 10 lots being from the age of 6 months to the age of 6. Then the last 5 lots being done from the age of 15 to 17. The laser treatment was especially challenging as for the first few weeks my face was very sore, swollen, and purple, which did cause people to stare even more than they usually do, as I didn’t look “normal”. This did take a toll on my mental health when I was 15 as I was going through treatment to reduce my redness on my face, but to get there it had to get worse before it got better.
What has been the most challenging aspect of living with your condition?
The most challenging aspect of my condition is what you can’t see, my condition especially my birthmark doesn’t just stop with my skin it goes beyond that and affects me daily, internally. I also think mental health can be a challenge, especially when we are constantly told how a person should look via social media and advertising, to how we compare ourselves and each other to the models and celebrities we see online.
“Be yourself and don’t change your beautiful difference for no one.”
How has your daily life and routine been affected by your condition?
I’ve never known anything different with being born with my medical conditions, but I still have bad days where a certain condition may be affecting me more than it usually does. I have learned not to plan too much for the future with my health and what could happen but to focus on what’s happening now and take each day by day.
How has your condition affected your mental health and emotional well-being?
I have definitely had my struggles with mental health, especially around my teenage years when there’s so much pressure on how you should look with social expectations. And with each new diagnosis, procedure and even hospital visit it doesn’t get easier as you get older. I think it actually feels scarier. You now hold that responsibility for yourself rather than a parent or caretaker, who would take in that information and do the talking for you.
What strategies have you found helpful for managing your emotions and thoughts?
I surround myself with family, friends and people who really care about me, and try to understand my condition. I think everyone has their own coping methods and strategies to help their mental health and wellbeing, and for me, it’s makeup. Makeup is my passion, as I can express how I’m feeling in that current moment through art.
How has your diagnosis impacted your relationships with your friends and family?
It has definitely had its challenges in the past to make friends, as I spent more time in hospital than I did outside playing sports. But once I got older and found more people to connect with, and who had similar experiences as me, it’s been a lot easier. My family has always been there through the ups and downs, they are definitely my biggest supporters. The bond with my mum is especially strong because we have spent so much time together in hospital, while my dad stayed at home, working, and looking after my brother.
What advice would you give to someone who has recently been diagnosed with your condition?
My advice for newly diagnosed patients would be to take each day as it comes, there will be good days and bad days. Fill your life with happiness and a strong support system of family and friends who can pick you up on those bad days. And just be yourself and don’t change your beautiful difference for no one.
What advice would you give to your past self if you had the opportunity to go back in time?
I would definitely tell insecure 14-year-old Amba, to not change yourself for anyone, who doesn’t accept you and your skin. Don’t go through more pain and upset to make other people happy. Focus on yourself and don’t worry about your future too much, you will do great things, and raise awareness for a cause you will eventually love.
How can others be more supportive and understanding of people with your condition?
Make sure to educate yourself and be aware of other people’s feelings, rather than staring and asking inappropriate questions about another person’s skin. I think it’s important to raise awareness on these topics in schools, and within the workplace.
Do you have a scar, mark or condition on your face or body? Learn how Changing Faces provide support and promote respect for everyone with a visible difference, here.
Find support at The Vascular Birthmark Foundation and learn more about Sturge-Weber Syndrome, here.
Looking for support and resources for Glaucoma? Click here.
Are you a chronic disease warrior, or know someone who is? We would love to hear your story! Contact us at email@example.com to find out more about how to get featured on Jonda’s Patient Voices. Let's inspire and educate others facing similar challenges by sharing our unique health journeys and raising awareness, together.
Disclaimer: Please be aware that the content of this patient story, is solely the viewpoint of the individual(s) involved and should not be considered as medical advice.