What was the process of diagnosis like for your family?
My family is extra rare in that our child has two rare genetic diseases. In the first instance, we had been searching for over a year for answers to our son's failure to thrive and increased lethargy. When we got the diagnosis, there was relief because there was treatment, there was the potential of improvement. In the second instance, the diagnosis came before many of the symptoms. The nephrologist and geneticist were searching for more information about my son's kidney disorder, we guessed that his hearing loss was related to his kidneys, only to find out that he'd inherited Usher Syndrome, the leading cause of adult deaf-blindness. My son had inherited a degenerative eye condition. In that case, the diagnosis wasn't a relief, it was a shock. That said, the shock wore off and the knowledge gives us power to pave the way for a well-adjusted future for our child.

How do you and your family cope with the diagnosis and your impacted daily lives?
When you become a parent, you learn very quickly it's not about your desires for your child, it's about your child. Often times, like most relationships, it's a matter of a give-and-take. In this sense, parenting a special needs child is essentially the same as parenting any child, but on steroids. My son has anxiety issues and sensory processing issues because of medical complexities and differences in vision and hearing. Sometimes that means I come to his level, help him avoid a crowd or protect him from overstimulating or anxiety-producing spaces. If he'd rather play by himself on a playground than interact with strangers, so be it. Other times it means I help build him up into a person that can better adjust to the world outside himself. I teach him explicitly how to make friends because he never learned the script by himself. I work hard with therapists to help him learn essential tools for survival. When he was littler, that meant explicitly teaching him to respond to a fall, since his reflexes were muted. Then it was teaching him to chew, eat, swallow, speak, walk, tolerate water, say 'hello,' respond to direct questions, etc. These are things I hadn't had to teach my other children explicitly, so parenting is taken to a new level. That said, he also responds. There hasn't yet been a thing that he needs to learn that he has been unable to pick up, eventually. But this also puts a burden on us -- our son has no apparent ceiling on his abilities. But everything comes with great effort (in large part because he was born four months early). In addition, he is going to be moving into a deaf-blind adulthood with a kidney condition, and we are never certain about what's around the corner. We are faced with a balancing act, similar to most parents but (again) on steroids. How much time do we spend pushing our child to become the best possible version of himself through explicit teaching like therapy or school? How much time do we spend seeking out the sunsets and the concerts while his eyes and ears can still process these sensations? So, to sum it up: our family copes with the diagnoses by throwing ourselves all in. We seek out appropriate therapies and schools for our child, seek out knowledge and wisdom on his diseases, and try to give him as much as we can so that he thrives, even as the world dims. All while, of course, allowing him to just be a kid. No biggy.

What are some of the unique challenges of parenting when one of your children has a rare disease or disorder?
When multiple children need help, the special needs child's needs nearly always trump the needs of the other children. It's not fair, it stinks, but it's the way it is. It is always a challenge to know how to loop in the other siblings so that they don't feel like second-class citizens in their own home.

What additional tasks and challenges fill up your time related to caring for a child with a rare disease or disorder?
We spend a lot of time driving our child to therapies, attending parent training sessions, and then we spend way way way too much time documenting, researching, and advocating for appropriate educational settings. At first my life was consumed by doctors’ appointments and understanding my son's diagnoses. Now that those are understood well-enough, the task of explaining my child's unique needs to his teachers—balancing giving complete information with being overly obnoxious—this has become my all-consuming task.

How has having a sibling with a rare disease or disorder affected your other children?
One wants to become a doctor or nurse and has developed empathy. The other is a polyglot who tacked on ASL to her languages of use so that she could communicate more effectively with her brother.

What are some practical things that other families can do to help or support you?
My child needs friends. His only friends right now are his siblings. This is largely his fault. He actively pushes away other children because they are too scary for him. He's never going to make friends on his own, and we can't put him in a lot of the normal activities for kids to increase exposure to peers. His vision and hearing loss and sensory differences make those settings inaccessible without a parent or aid. He relies on adults to help him make sense of his world. Other families could walk beside us, tell us they really like our child and they want to find a way to stay beside us until he learns to befriend them and/or their children. Feeling "sorry for him" isn't an option in our book. He won't thrive in a society that feels sorry for him, he'll only thrive in a society that learns to accept him and bend ever so slightly to make room for him.

Interested in hearing more of Laura’s story? You can visit her blog here.