It’s Rare Disease Day. I had never heard of it until my son was diagnosed with CDKL5 Deficiency Disorder. This will be our sixth Rare Disease Day since his birth and I thought I’d take an opportunity to reflect on all that has happened since we became a family of “rare.”
Ages 0, 1, and 2: Exhaustion, Fear, Desperation, Despair
Transitioning into parenthood was way more difficult than I anticipated it would be. The lack of sleep was awful. The responsibility was overwhelming. It was clear pretty early on that my son wasn’t following a typical developmental path and that added a whole layer of worry and uncertainty to what was already a challenging time.
I was overwhelmed by the uncertainty. What is going on with my baby? What should I be doing? If only I worked harder, or did more, or found the right doctor, or saw some obscure specialist, or found some alternative treatment maybe my son would meet milestones. Maybe he will outgrow these seizures. Maybe I should buy CBD off the internet. Maybe he has delayed visual maturation and his vision will come with time. I desperately read everything I could find to explain what might be going on with my baby and what I could do about it.
When he was diagnosed with CDKL5, the doctor didn’t give me much information over the phone. He said “intellectual disability” and I replied, “like, what, he’ll need extra help in math?” I clearly didn’t understand the severity of what he was telling me. Then I Googled it. Reading about CDKL5 was like drowning. I couldn’t breathe. It was an out of body experience. How can this be reality? I had thought that if I just found the right interventions that he would be “normal.” But no. I had a six-month-old baby and learned on a random Tuesday night in October that he would never talk, never walk, would have seizures his whole life, might need a feeding tube. Might not live a long life. It was unthinkable.
I focused my energy on doing what I needed to for my son, but also had to manage my own emotions. Getting life changing information, whatever it is, takes time to digest and energy to process.
I was told by professionals and other special needs parents that I needed to let myself grieve. Initially, I bought into that. I was overwhelmed with despair about my son’s life. Surely what they were saying made sense. I was grieving. But as I educated myself on issues that were becoming important in our new world of disability and disease, I began to feel uncomfortable labeling my feelings about his life as grief. And now I never do.
A couple things changed my perspective. One, I started to pay attention to disabled voices on social media. People who could, perhaps, give me insight into my son’s experience. The overwhelming feeling that I understood from them is that, despite what they can’t do or the pain they experience, they want their lives. They don’t feel sorry for themselves. I think the statistic is something like 1 in 4 people will be disabled at some point in their lifetime. Should we be collectively grieving for 25% of the population? That doesn’t make sense. Disability and disease are part of the human condition.
My son doesn’t feel sorry for himself, so I’m not going to feel sorry for him either.
And two, I know too many women whose children are no longer here. They don’t have the privilege of kissing their child’s face, or telling them I love you, or holding their hand like I do. Grief (as it is commonly understood) is about the ultimate loss. I have a son. He is handsome and sweet. He has a genetic disorder that has been within his DNA since conception. Every day he has spent on Earth he has been exactly who he is – a little guy living each day in his own way – like all of us.
I haven’t lost him. He is right here with me being the best he can be.
You could say I have lost the expectations I had for his life and for my own life. But can I adjust those expectations and find happiness despite the loss? Absolutely.
Parenting is a funny contract. You enter into it with this little person and they don’t owe you anything. They don’t owe you milestones. They don’t owe you smiles, or “I love yous,” or achievements. They don’t owe you anything as part of the contract, but as a parent, you owe them. You owe them unconditional love and acceptance for who they are.
I spent a lot of time in the early years of my son’s life reflecting on that.
Professionals added to our team: pediatrician, physical therapist, ophthalmologist, neurologist, early intervention, teacher of the visually impaired, occupational therapist, speech therapist, feeding therapist, gastroenterologist, pulmonologist
Equipment added to our home: stander, stroller wheelchair, suction machine, nebulizer
Ages 3 to 4.5: Continued Exhaustion, New Fears, Desperation, Acceptance
Right around his third birthday, my son’s health took a dramatic turn for the worse. He went from having manageable daily seizures to out of control seizure activity that left him unable to function at all. He lost the ability to eat and drink by mouth. He lost the ability to lift his head up. He lost what little peeking his vision had developed. His seizures were so long and intense that he slept for hours after each one. He was barely awake at all. And while the daytimes were bad, the night-times were worse. Maybe day and night weren’t much different for him. But I was up 3, 4, 5+ times a night tending to him. Suctioning him. Connecting him to oxygen. Waking up multiple times a night, every night, to the sounds of him seizing or to his pulse oximeter beeping.
It was a literal nightmare. Sleep deprivation is a form of torture, isn’t it?
This time in our lives was horrific. My son wasn’t physically stable enough to travel easily. When it was necessary to leave our house, I always had to have someone drive while I tended to him in the backseat. He wasn’t stable enough to stay the full three hours at preschool. Inevitably he would go into respiratory distress and I’d have to go get him. I truly wondered how long he could go on this way. And I think that actually pushed me more quickly towards acceptance of his diagnosis. So much of what used to get to me in the early years of his life just didn’t bother me anymore. Because, even though he is strong, his life is fragile. And it doesn’t matter what he accomplishes. What matters is that he is still here.
Professionals added to our team: ENT doctor, urologist, nephrologist, palliative care, dietician, school-based teacher and therapists, 1:1 nurse at school, 1:1 paraprofessional at school
Equipment added to our home: cough assist machine, pulse oximeter, oxygen tanks, continuous oxygen concentrator, feeding tube pump
Ages 4.5 to today: Blessed Sleep, Renewed Hope, Gratitude
Just as I was coming to terms with the severity of my son’s disease, and what really matters, something incredible happened for us. We enrolled in a clinical trial.
We enrolled in November 2019 and started the new medication in January 2020. And we hit the jackpot! This medication brought my son’s seizures under control. Back to manageable. It took him from desating daily and needing oxygen and suctioning, to only needing them when he’s sick. It gave his body a chance to calm down so that he could be awake and learning during the day, and sleeping restfully overnight. It has been a literal miracle.
Soon after enrolling in the trial, the pandemic started. And, as rude as it may sound, the pandemic restrictions worked in our favor. Suddenly I didn’t need to travel with my medically complex kiddo. I could see his doctors via telehealth. I didn’t need to send him to school. I could Zoom into preschool with him from home. We got to attend virtual music class. We had socials with our friends virtually. Our world was bigger once we all had to stay at home. Life was easier in a lot of ways. And I felt quite a bit less lonely.
Also in 2020, I was privileged to join the Board of Directors for the International Foundation for CDKL5 Research (IFCR). Every day I am thankful for this organization and their patient advocacy efforts. Clinical trials take place for CDKL5 because of the work this organization has done to make our disease known and to bring our community together. What I’ve learned about rare disease is that there are over 6,000 identified rare diseases and the majority of them do not have a patient advocacy group dedicated to their cause. I feel so lucky that we do and so proud to be a part of it.
Our CDKL5 community is strong. We as parents face incredible challenges caretaking for our medically complex kids, but we still hustle to spread awareness, participate in research, and fundraise for our cause. Now that my son is in a healthier place, I find that I have more and more time to contribute to the IFCR’s efforts and the work is fulfilling such a sense of purpose for me.
Six years ago, I did not want to be here. But now, when I look around at my CDKL5 community, I find lots of directions in which to smile. We are rare, but we are not alone.
Professionals added to our team: ,clinical trial team, brand new school-based teacher, therapists, 1:1 nurse, and 1:1 paraprofessional because he started kindergarten this year!
Equipment added to our home: none!!!!!
Learn more about the IFCR's efforts at www.CDKL5.com.
Whatever your disease, support your patient advocacy group! Volunteer. Fundraise. Participate. Whatever you can give has value - don't doubt that!
