My name is Aida, I’m from Mexico. In 2003 I came to United States to live. One of my sons, Jesus, was born in 2004, when he was one years old, I noticed that he had a sunken-in chest. His pediatrician ordered an x-ray for his chest. After the x-ray result, the doctor told me that she did not find something to be worried about it.
At the end of the year 2017, another pediatrician found that Jesus had a curve on his back. After that, my son was referred to another doctor to check the development of the curve on his back. He found that my son had scoliosis, I had never heard of this word before. Months later, my son was referred to a geneticist. This doctor found that my son carries the Marfan Syndrome gene (I cried when I heard that). The geneticist ordered to my husband and I to have a blood test to know which of us carried the gene. I was surprised when I heard that I carry the gene.
The geneticist referred Jesus to a cardiologist, this doctor would check my son’s heart and possible problems with it. My son had had appointments with him every year until now. The cardiologist prescribed to my son take Atenolol to control the pressure of the aorta. Jesus continues taking the medicine today.
Then, my son was referred to an orthopedist, this doctor referred my son to a doctor, who should make a back brace for my son. My son was using a back brace for two years and his back got straight. The orthopedist was checking my sons back every six months, it was a large procedure and talked to his school nurse to help him just in case.
The orthopedist noticed my Jesus’s sunken chest and he referred my son to a surgeon. I was scared when I heard “surgeon.” In 2019 the surgeon told me that my son needed a pectus excavatum surgery. When she explained to my son and me about the surgery, my mind was blocked. I cried when I remember this.
The surgery was scheduled for Summer of 2020, but it was postponed because of the pandemic. Finally In the Summer of 2021 Jesus had his surgery.
The cardiologist advised me to tell to my family in Mexico about this syndrome just in case someone had it . I talked to my little brother and told him be aware, because I thought my mom and he could have the syndrome due to the same features.
My experience with the process to accept that my son and I have Marfan Syndrome has not been easy.
I had had to talk to my family and my friends about this situation due to the shock I was in.
In our case, Jesus has many features of the syndrome but I did not. My son has flat feet, myopia like me, is very tall, had scoliosis and sunken-in chest, his face and his arms are large, his fingers too. I have myopia and a cyst Tarlov.
In 2021, I attended [a] Marfan syndrome symposium by zoom to get more information about it, last year my husband and I were in another in Los Angeles.
I can’t not imagine we are lucky, we are 2 diagnosed between 5,000. Can you believe it?
When I received my son’s diagnosis, my husband told me: you can cry, you can yell, but God and nature already had made his job.
This is my Marfan syndrome experience.
Thank you for reading it.
-Aida A. Balam
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.