By Heather Pohlabel
Losing a child is by far the worst thing that could ever happen to a parent, but there are other devastating events that can take place in a child's life that leave his parents experiencing emotions that they never thought they'd feel while raising their children. Parents with children born with life threatening illnesses or who develop cancer or other deadly diseases later in their lives live their lives every day in some state of either mourning or hope, both of them desperate feelings. Very few are so lucky to be misdiagnosed and have their children live normal, happy, full, and long lives, but they do exist, and I am one of them. This is our story.
I was twenty when my first child was born – a son. He weighted 6 lbs. 9 oz., and was 19 ½ inches long at birth. At that time, I did not have insurance, so the hospital released me after 24 hours. My son was tongue tied, so could not latch on very well to the breast, and I was a very inexperienced first time mother with no support whatsoever. By the time my home nurse came to visit, my son was very jaundiced and dehydrated.
At his three month visit to his pediatrician, the doctor thought he was not developing as he should, so he sent us to Toledo for an MRI. Everything looked good for a three month old, so we didn’t think much of it.
As he started to grow, he wasn’t doing things developmentally on time as most children did. He wasn’t holding his head up or crawling or noticing his hands and feet and he was unusually cranky. He cried all the time. It was a rough first year.
I enrolled him in early intervention and we began physical therapy, occupational therapy, and speech therapy to help his developmental delays. There was no real reason as to why he was not developing on schedule, and we were curious.
We began visiting the Cleveland Clinic upon recommendation from our doctor. There we met with neurologists – the best in the world – to make sure that there was nothing serious wrong with our boy. While there, we were amazed and saddened by all the lovely little children who were suffering with one disease or another. Our child seemed so healthy compared to them. He couldn’t possibly be headed down that road – that is what we hoped and prayed for.
It took some time, but after seeing several different specialists and going through a gammet of testing – MRIs, cat scans, blood work, EEGs, you name it, we did it, we finally had a diagnosis. Leukodystrophy.
In case you have never heard of it, it is a disease of the white matter of the brain. Leuko means white and dystrophy means destruction. It is where the myelin sheath in the brain does not form correctly and over time even diminishes. The movie Lorenzo’s Oil was made about a family’s struggle with the rare disease.
There are several forms of leukodystrophy, and we were handed the case of the most rare form. PMD. Pelazius – Merzbacher’s Disease, named after German doctors who discovered the abnormalities in their patients.
What did all of this mean?
According to our neurologist at the time, this specific disease would take our child’s life at the age of five, and if it did not, he would be deteriorating rapidly, and not live to be a teenager. He would have no quality of life and would be in a vegetative state until death. He would never walk, and if he did, it would not be long after that that he would begin to lose his functioning. He would be confined to a wheel chair and would have to eat through a feeding tube, as he would not be able to swallow.
I was 21 years old when my doctor shocked me with this news. I have never cried so much in my life.
When my son turned five years old, I bought a ruby ring (his birth stone) to celebrate his life. It is more cherished to me than my wedding set.
My son is now thirteen years old and lives a happy and full life. He was misdiagnosed, and for years, every time he was sick, I rushed him to the hospital, thinking it was the beginning of the end.
I am just starting to get over the paranoia that I will lose him. I count my blessings every day that I did not have to go through the loss that so many parents endure.
We survived misdiagnosis.