Diagnosis Day

It’s been over five years since we received our diagnosis. We had sought answers for the first 20 months of our daughter’s life. Why did all the genetic tests come back normal, and yet she had increasing developmental delays? Why did she require a g-tube for feedings? After almost two years of seeking answers, we received the results via whole-exome sequencing. Our daughter has an ultra-rare genetic syndrome called Bohring-Opitz Syndrome.

The day we received our diagnosis is a blur. The genetic counselor handed us some printouts of the literature on this ultra-rare disorder, and she mentioned that there were roughly 42 people in the world who’d been diagnosed with this syndrome. She also printed out the website dedicated to support and information about the syndrome and encouraged us to join a Facebook group dedicated to the syndrome.

I remember asking about our daughter’s prognosis, and the geneticist stating that not much was really known. She said that she did know our daughter would always live with us. “Sounds great!”, I thought. I’m not sure if they were purposely vague about her diagnosis to give us time to process, or if I just remember it that way. But reflecting on the days and months after her diagnosis, there are things I wish I’d heard at the time and hope to share these thoughts with other parents who are reconciling with a new diagnosis.

What I Would Tell My Younger Self
If I could take a time machine back to 2015, there are things I would tell my younger self. Lessons that would make the next several years easier, if I took my older self seriously. Thoughts that would help me better manage my expectations, ways to take care of myself for the long road ahead, and ways to seek help during the isolation most special-needs families feel.

I would teach myself the mantra, “It’s a marathon, not a sprint.” I wanted so badly to “fix” my daughter’s challenges that I took off running. We did every therapy we could fit into our schedule. We sought out every alternative treatment available. But in most cases of developmental delays, I assume there is not a quick fix. Slow and steady wins the race.

Part of the “slow” in that equation is taking time to enjoy infancy and early childhood. Take a moment each day to simply be with your child. First and foremost, be a mother. Enjoy cuddling, reading books, and going for walks. Sit outdoors and just breathe for a few moments. Feel connected to your child and to your body. Imagine the energy and the environment you are projecting and creating for your child. The strength and love you are emanating are more vital than your expected outcome of an activity, therapy session, or family outing.

The “steady” part of the race is realizing that there will most likely be years of therapy. It’s OK to take a day off to enjoy a special event with your child or miss a week of therapies to take a family vacation. Therapy will always be there, but your child will grow too quickly!

I don’t think my younger self had heard of “self-care,” as it wasn’t a buzz word at the time. And while many parents may roll their eyes at the perception of self-care as getting pedicures or taking bubble baths, there’s so much more to it than that. Self-care literally means taking care of yourself. If you don’t maintain your physical and mental health the way you’d care for others in your family, you can’t finish this marathon. So, I’d tell my younger self to focus on myself a lot more.

For me, taking care of myself means scheduling time for myself each day. And I mean actually writing breaks on the calendar or scheduling one morning a week to do something that I’m interested in, like going to the art museum or reading a good book. Personal time and your health need to take a priority as much as your child’s doctor’s appointments and therapies. Taking care of yourself also means carving out at least 15-30 minutes of that precious babysitting time to do what fills you up. It means caring for your physical needs first so that you can begin to focus on your emotional, mental, and spiritual needs. Put your own oxygen mask on before assisting others. Sleep, eat regular healthy meals, meditate, pray, journal, or do what brings you joy. If your brain short circuits whenever you get 15 minutes to yourself, check out the Self-Care Wheel or Self-Care Assessment here for ideas.

Finally, I’d tell my younger self to ask for help more often, and earlier, than I did. For me, asking for help meant finally finding a good therapist. I struggle with anxiety and depression, and I eventually found a great therapist who has given me tools that help me with this battle. Finding help might mean seeking out a good support group. I’d suggest finding one active, positive Facebook group and sticking to that. Avoid joining every Facebook group imaginable. Spend equal time talking to other parents with kids of varying diagnoses, rather than sticking to your exclusive diagnosis. I’ve found a lot of support in my local special needs groups, where we address our common challenges and share information about regional resources. I also feel that finding a local support group that offers live conversations is much better than spending time on social media. I’d suggest limiting time on social media as much as possible! I find it lends itself too much to comparison, mom guilt, and isn’t a healthy way to feed your soul. If you need help finding live support groups in your area, check out We Are Brave Together or ask your pediatrician, social worker, specialists, or other resource providers.

Asking for help also means seeking respite. For many families, it’s hard to find. I hope you have a good support network near you. If you do, and help is offered, take it! Remember, this is a marathon. Ask your spouse or partner for a break. If a neighbor offers to help out, say yes! Ask your pediatrician, insurance caseworker, or social worker if respite or personal care services are available. Seek out respite services from local churches or nonprofits. If you’re still struggling to find help, ask other local moms how they are getting a break. Don’t give up on seeking assistance -- it’s a necessary part of this race.

Finally, seeking help also means trusting your intuition. Learn to trust your gut. When something doesn’t sit right, speak up. I was raised to be very polite and respect authority figures, but I’ve learned to be a better squeaky wheel when our family needs the grease. When we didn’t like one specialist, we found another. When we didn’t like the side effects of a new medication, we called the neurologist on the weekend. When we feel like we’re burning out, we take a day off from therapies. Listen to your gut, and listen to your body. Check in with yourself from time to time. You know yourself and your child better than anyone, especially a doctor who has spent less than 15 minutes with your child. Journaling is especially good for listening to your intuition!

Every parent is as unique as their child, and everyone’s story is different. This advice comes from my personal journey, and the lessons I would offer my younger self may or may not resonate with your experience. But I strongly feel that most parents who are new to a diagnosis need to hear these messages over and over again:

It’s a marathon, not a sprint. Marathons are hard and require stamina. You’ve got to see things for the long-term haul that they are, and plan accordingly. There are no quick fixes, and you’ve got to conserve your strength, energy, and endurance.

Take care of yourself. You need to be healthy, rested and mentally fortified to go the long distance.

Ask for help. Make sure your spouse, family, and support network know when you need help. It’s OK to ask for help. Life is hard, and you don’t have to do this all on your own. It’s not all up to you!

If you’re struggling, remember you are not alone. There are many other mothers around the world who are sitting in their living rooms, or standing in their kitchens, running this same race. Reach out. We are here for you, and we understand the struggle!