At age 20, Magdalena Dabrowska has recently learned that she has Myhre syndrome. This is her experience on her long road to getting a diagnosis.
I am Magdalena, and a year and two months ago I was diagnosed with Myhre Syndrome.
Born in 2000, babies who were significantly premature did not have a high survival rate. I was born 2.2 kg in size 48 cm.
I was always significantly smaller than my peers. I remember not being able to compete in my childhood games or in the gym because my body was not acting as it should.
My parents did not know what to do and my pediatrician was of an older generation who did not see the need to refer to other specialists. Socially I struggled a lot. Interactions with other children terrified me. When I turned 15, it was hard to ignore that something was wrong. My weight reached 70 kg in a year, I stopped menstruating and I stopped growing.
They took me to see a gynecologist who said I was just overweight and lazy and left me with unanswered questions and even deeper embarrassment.
I went to another school when I was 17 years old. I struggled to make new friends by sitting at a different table in the cafeteria every day. In my second year I met other people who had problems with disabilities
I work in a company called Gureak for disabled people, we make different cables for cars...... at work we do different things like putting connectors, cable ties, cables, closing the covers, retainers, or putting labels on the wires, tape the cables, cut the flanges.
Each person living with Myhre Syndrome has unique experiences and struggles. A common thread of this rare disease is lack of understanding and misdiagnosis. The symptoms that affect me are;
Skin fibrosis, small hands, small ears, sleep apnea, brachydactyly, (short palpebral fissures), short philtrum, thin lips, maxillary hypoplasia, short stature, wide ribs, amenorrhea, autism, attention deficit hyperactivity disorder, clinodactyly, small hernia, respiratory tract, skeletal anomalies, joint stiffness, characteristic facial appearance, tracheal stenosis, blepharophimosis, square body shape, iliac hypoplasia, flattened vertebrae, thickened calvaria.
Thank you so much Magdalena for sharing your story with us - if you have a story you’d like to share do please get in touch. We love to hear all about the community so we can come together to support one another.
