My son Kuzey was born at 31 weeks. He stayed in the incubator for 1 month and was released with no health complications. We were told that he would recover with good care at home. We went to the family doctor and had his head measured. They said that there are about 500 diseases that can cause this situation.
His head kept growing till he was 3 and then returned to a normal growth rate. As we began to plan the next course of action, in the middle of making plans to seek alternate medical consults, the pandemic struck. A few doctors insisted Kuzey wouldn’t need physical therapy but we got him started on it when he was 1.5 years old, along with special education classes. Last year, we started gait therapy for him at the City Hospital and also started aquatic therapy.
He started sensory integration therapies in 2021, and Kuzey started using muscle relaxants since he was 3. He also wears a special shoe called AFO to help his balance and the shape of his feet. He has also been using a standing chair for the last 4-5 months. When Kuzey was 4 years old, the metabolism department doctor started to work on full gene scanning (wes analysis) in Turkey, and finally after about 10 months, thanks to the guidance of this doctor, Kuzey was diagnosed with MLC1 Van der Knaap syndrome, at 5 years old. After the initial period of confusion, we started to learn more about the disease. We emailed Dr. Van Der Knaap and she directed us to Dr. Pınar Topaloğlu from Istanbul, whom we visit a few times every year with Kuzey.
After the diagnosis, we met other patients and their families, and have been able to support one another and share information. We have formed a community by reaching out to other MLC families on the internet. We are in contact with 17 families in Turkey on Whatsapp.
Since MLC is a very rare genetic disease, there are very few medical specialists working on this field. So sharing information through social networks is helpful in raising awareness.
Being a parent to a child with a progressive disease is difficult and families like ours need all the support they can get — be it financial, psychological, or emotional. Despite all kinds of difficulties, our son is an angel with a beautiful smile. He must get a fair chance at life.
Picture: My husband (Ismail) with our daughter (Öykü, and our son Kuzey.
