Why 'Be Patient' Wasn't Helpful Advice While Waiting for Our Child's Diagnosis

The journey to get a diagnosis for your child’s disability can be long and frustrating, especially if the condition is not readily visible. You will likely be told you need to “be patient,” or that you will have to “wait and see.” My wife and I cringe whenever we hear these phrases, because we believe that time is of the essence. The earlier you get a diagnosis, the earlier you can begin treatment, which can make a huge difference in how your child progresses.

Our son Joe was born at 8 pounds, 6 ounces in September 2013. Joe is our second child; his sister Holly was born two years and 17 days earlier. We immediately knew something was different about Joe. We could tell he was having trouble tracking and focusing on things; he never made eye contact or looked at toys we presented him. Everyone told us this was to be expected, because newborns usually have poor eyesight. But we had Holly as a benchmark, and although we agree every child is different, we couldn’t help but compare them to each other.

When he was 3 months old, we took Joe to see an optometrist who prescribed glasses to correct his farsightedness. Although he looked cute in his new glasses, they didn’t seem to help at all. We were told to “be patient” as they may begin to help in time.

At 5 months, our pediatrician referred Joe to an ophthalmologist who suspected he had a condition called Leber congenital aumorosis (LCA), which would mean lifelong blindness. He was sent for testing, and we will never forget the sound of cheers coming from the medical staff in the pitch black examination room when they saw a response from light stimulation sent into his eyes. The doctor, who came to tell us the good news, seemed a little perplexed that we didn’t seem to share the same exuberance. We were happy Joe did not have LCA, but we were still without an explanation for his symptoms.

A month or two later, we were referred to see a neurologist, who ordered a number of blood tests and told us the results suggested a peroxisomal disease called Zellweger syndrome. To this day, we still have no idea why she was so sure, but she did an excellent job of convincing us. The disease would likely mean Joe would not live to see his second birthday. We were absolutely devastated. Determined to exhaust all possibilities for treatment, we began to research Zellweger syndrome and any studies that might give hope. The more research we did, the more the diagnosis just didn’t seem to fit. Joe was thriving, growing, and making noticeable gains week after week. If he actually had Zellweger syndrome, we should have seen the opposite. It was time for a second opinion.

Our pediatrician then referred us to a neurologist at the local children’s hospital. Almost immediately, he confirmed that Joe did not have Zellweger syndrome. We were very relieved, but again not quite ecstatic, because we still had no diagnosis. The neurologist made an appointment for Joe to get a MRI on his brain. Based on the results, he was able to determine that Joe had a midline brain malformation as well as optic nerve hypoplasia. We finally had a diagnosis, and it wasn’t nearly as scary as LCA or Zellweger. Joe has septo-optic dysplasia. This meant he would likely be visually impaired to some degree, and may also have an intellectual disability or other neurological disabilities.

Since his diagnosis, we’ve learned Joe is also prone to seizures. When he had his first seizure, he had to be flown by helicopter from our vacation to the emergency room at our local children’s hospital. He was completely unconscious for his first helicopter ride, and it was over the Rocky Mountains, too! The diagnosis has definitely given us some new grey hairs, but then again, what doesn’t do that to parents? We’ve also recently learned that he is likely on the autism spectrum. We’ve just begun this process for diagnosis, but we feel like seasoned veterans at this point.

Our advice for parents beginning the diagnosis process is to be vigilant. Question everything, and speak up if you think something is wrong. Don’t accept “wait and see” or “be patient” if you feel that the process is stalling or unnecessarily slow. We know waiting for referral appointments and test results can be excruciating. We know the medical professionals are trying their best, and have to be thorough before they can give a diagnosis. An accurate diagnosis can be crucial for your child’s treatment. We heard one professional explain it like this: “If you have 100 people: 50 with the flu and 50 with a bacterial infection, it is likely they would all have a fever or other similar symptoms, but an antibiotic would only help half of them.” It’s important to get the diagnosis right because it will determine the best course of action to help treat your child.

At 2 and a half years old, Joe is nonverbal, but he’s making gains and slowly coming out of his shell. We wouldn’t trade him for anything in the world and feel truly blessed to have him in our lives. He adds so much joy and variety to our lives that we honestly can’t remember what life was like before him. Now that he has a diagnosis, we are able to get him the help he needs. We feel relieved, because we know we are doing everything we can to help him live the best life possible.

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