Eric’s Story

Eric’s Story was written by his mom.

Eric is our first and only child. He was born March 18th, 2023, weighing 7 pounds and 7 ounces. We thought he was a perfectly healthy baby.

At 3 weeks old, we noticed he had nystagmus (uncontrollable eye movements) and contacted his primary care doctor. He said some children develop it and are otherwise healthy. But for some, it indicates something deeper. He encouraged us to make an appointment at Children’s Hospital in Pittsburgh and to watch Eric’s milestones closely. If he missed any, we should consider further testing.

At the age of 4 months, we took Eric to pediatric ophthalmology at UPMC Children’s Hospital in Pittsburgh where they used special machines to read his eyes. They saw the nystagmus and found that he was extremely farsighted. They ordered glasses for Eric, and at 5 months old, he started wearing them. We immediately saw a dramatic difference in his sight.

The UPMC doctors wanted us to have an EEG (electroencephalogram) to evaluate brain function and also encouraged genetic testing. The EEG was done when Eric was 9 months old and the results came back normal. We pushed off the genetic testing

Eric was our chubby, happy, little guy who met all his milestones until he was a year old. He didn’t start walking independently. We started with early intervention in-home therapy. He received physical, occupational, and speech therapies, and responded well to all. However, at 2 years of age, Eric was still not walking independently. We decided to go ahead with further testing.

First, we met with a neurologist, and he referred us to Children’s Hospital in Pittsburgh where Eric had a brain and spine MRI done. Six weeks later, we met with the neurologist again. He talked to us about the MRI results, saying that Eric’s spine looked normal and the brain itself looked normal. But because the myelin sheath that covers the brain looked abnormal, he wanted us to go ahead with genetic testing for more clear answers

The neurologist noted that the radiologist that read the MRI before him felt Eric had HLD2 (hypomyelinating leukodystrophy 2), a genetic disease of the central nervous system. But after evaluating Eric for a few minutes, the neurologist said there was no way he could have that.

A few weeks prior, a friend of mine asked me if we had ever heard of DDC Clinic. We had heard of it, but had never paid much attention to it. We decided to contact them about pricing for genetic tests and were pleased to discover they were more affordable than the Children’s Hospital in Pittsburgh.

A few weeks after we got Eric’s MRI results, we met with Dr. Wang and his team at DDC Clinic. We were instantly impressed with the clinic and the services they offer. Everyone was kind and the atmosphere was relaxed. A few weeks later, we returned to get our genetic test results. And yes, Eric did have HLD2! It was a shock to us, and it took a while for the reality to sink in.

We believe God has great plans for Eric; he has been a huge blessing and inspiration to us. He has some physical challenges such as walking independently and some mild body tremors. Otherwise, he’s doing well.

Currently, he’s getting physical and occupational therapy, and we’re giving him a high protein and high calorie diet. He’s doing preschool work and anything a 3-year-old farm boy loves to do! He can explore the farm with his posterior walker and trike, helping with chores of his level. His determination is sky high. What Eric wants to do, he will! We’re excited to see what God has in store for his life.

I would like to extend a huge thank you to everyone at DDC Clinic for what they have done for us, and for what they do for all these special little people and their families. They are a blessing!

 

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