When You and Your Child Both Have a Disability

I am a mother with a chronic, debilitating rare disease, parenting a 9-year-old boy who may have a spectrum disorder. While I have tried to write this story many times, this is usually as far as I get, and I wonder where to go from here. Honestly I have pondered whether this is my story to tell, and I am embarrassed to say I have worried about what people would think of my son after sharing this story. I have also felt that moms with rare diseases and disabilities are often left out of the discussion about rare disease. We often read the statistic stating that more than half of rare disease patients are children. Well that means the other half are adults – some of them, mothers and fathers with an illness who struggle to parent children.

My husband and I knew our son had a disability when he was about 4 years old. His speech had not developed as it should have. His vocabulary seemed appropriate for a child his age, but we could not understand most of what he said. We also noticed he was exhibiting behaviors that were common in children who are on the spectrum, although at that time we were not familiar with spectrum disorders. My husband and I wanted our son to be ready for kindergarten, so we took him to Kennedy Krieger for an evaluation, and were surprised, disappointed, and relieved when the only diagnosis our son received was expressive language disorder. However, we believed this diagnosis to be insufficient. And so began our search for answers for our son. At times, my own search for a diagnosis overlapped with the search for my son’s diagnosis.

According to The National Organization for Rare Disorders it takes an average of seven years for rare disease patients to get an accurate diagnosis; I was unable to find a number for mental illness or learning disorders. Based on a series of test results, my doctor was able to confirm my diagnosis of Pompe disease. According to the National Alliance on Mental Illness (NAMI) there are no medical tests that can provide a diagnosis for mental illness. A healthcare professional can do a physical exam or long-term monitoring to rule out any underlying medical conditions that may be causing symptoms.

For my son, it has been five years of seeing pediatricians, neurologists, speech therapists, behavioral therapists, and various mental health specialists. It still feels like we are no closer to having answers. Having a diagnosis for myself but not for my son tears me up inside. I am able to receive treatment, and it has saved my life. Watching my son struggle is painful and makes me feel helpless. There was also a time when I blamed myself for my son’s disability. According to the Center for Disease Control (CDC), children whose mothers experience postpartum depression are more likely to have speech delays and behavioral and/or emotional problems. I had postpartum depression for three years after my son was born.

Some days I don’t have the energy to take care of myself, let alone take care of my son. It’s particularly hard on days where I have reached my pain limit or I am exhausted and it’s difficult to have patience. There are days when my mood or emotions get the best of me as a result of the symptoms I experience related to Pompe disease. Still, I have to put them on the shelf so I can help my son manage his own emotions or help him adapt to a change in his routine. Some days I feel terrible guilt because I can’t fully attend to his needs the way a mother without a disability would.

Before having children of my own and being diagnosed with a rare disease, I used to say that if my child ever became ill, I would prefer it to be something physical rather than mental, thinking at least something physical could be cured.  I now realize how ridiculous and insensitive that statement is. When I had my first child 11 years ago, the term “rare disease” was not even on my radar, and I certainly never thought I would be diagnosed with a disease that has no cure. I also never thought I would suffer with postpartum depression and recover. I never thought I would need my husband to help me dress myself, comb my hair, or help me with other tasks of daily living. I also never imagined I would have a child with a disability; it’s a thought that does not cross many parents’ minds.

I don’t want people to feel sorry for me and I am not looking for a pat on the back. I’m not sure what I’m looking for, perhaps I’m just looking for understanding.  I often find myself sitting in IEP meetings with my husband or with the parents of my son’s friends telling them about my disabilities, hoping they will understand why my son is the way he is. I hope they will understand why I can’t participate in field trips, after-school activities, or have their children over for a play dates as often as the other parents.

My son has a great life; he has good friends who he enjoys spending time with. He loves swimming and is getting better all of the time; he learned to knit last year and recently entered some of his knitting in a competition and won an award. He has learned to play the didgeridoo; he also likes playing the harmonica and ukulele. He has the best imagination and tells great stories. I have suggested to him that he might became a writer when he gets older. I am so proud of the person he is becoming and he makes me laugh every day.

I will never forget the day my doctor called and gave a name to the illness I knew had been living inside of me. Despite being told I had a disease which would cause my muscles to waste away and has no cure, I felt a tremendous amount of relief because I finally had a real diagnosis. Someone was finally able to confirm what I knew all along about my health, and someone was able to give me hope by telling me that while no cure is available, there is treatment. I no longer had to endure the pain every day.

I want this for my son more than anything. I want to find a doctor for my son who worked as hard as mine did to help us find answers.

I want a doctor to give it a name so we know what the course of treatment should be, but I know with mental illness (especially in children), it is never that simple.

We are in this for the long haul, and no matter what the outcome, we are ready.