Matthew’s Story

This story is told by Anna, Matthew’s mother.

We have a family of seven healthy children. Our sixth child, Matthew, was seven years old when I decided he needed to have his eyes checked. I had noticed for a while that his eyes looked very tired at times, and he also seemed to be looking too hard while reading a book.

I made an appointment for him with an eye doctor in town. During that visit, we discovered something that we had not known before; Matthew could hardly see anything with his right eye. We also found out that he had a dislocated lens in that eye.

That doctor sent us to an eye specialist who told us that the lens in Matthew’s other eye was a bit dislocated, too. We were told that he needed to see a pediatric ophthalmologist as he was a growing child.

The pediatric ophthalmologist examined Matthew, but couldn’t give us any answers. He sent us to a surgeon at University Hospitals who told us he’d have to remove the lens in Matthew’s right eye, and he would have to wear a contact lens afterwards. Because of our son’s young age, the surgeon didn’t want to put in a new lens at that time.

Before the surgeon would do the operation and put Matthew under anesthesia, he needed to know if something else was going on. He wanted Matthew to have genetic testing to see if he had Marfan syndrome or homocystinuria, as a dislocated lens can happen with these conditions.

The surgeon wanted us to see a University Hospitals genetic doctor, but my mom suggested we go to DDC Clinic. We took Matthew to see Dr. Wang and Dr. Cruz. Blood work came back normal for the two tests that were ordered, but the doctors weren’t satisfied. They felt that our son’s condition was not normal; something was causing it.

Dr. Wang and Dr. Cruz did research and custom made a genetic test for our son. The test showed that Matthew had a genetic mutation in the ADAMTSL4 gene which affects the part of the eye that holds the lens in place. The two doctors had never seen a case like this before, but they had learned there were rare cases in Germany, Norway and Sweden. They got information about how the condition was treated there.

The DDC Clinic doctors told us both parents have to be carriers in order for the child to have the condition. They also said that one in four of our children could have it. We had our six other children tested, and we learned that none of them had Matthew’s condition, but they were all carriers. The test results and other information were sent back to the eye surgeon, and we were finally able to move forward.

Matthew had the surgery to remove the lens in his right eye. He had a two-month recovery, and then he got a contact lens. He also wore a patch over his left eye (his good eye) to help develop better vision in his right eye. His left eye continues to be watched by doctors, as that lens could dislocate more. For now, Matthew has excellent vision in his left eye, and we hope it stays that way.

DDC Clinic helped our family to find answers. We highly recommend Dr. Wang and Dr. Cruz to anyone who needs genetic testing. We wouldn’t know what we now know if it weren’t for them.

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