In Celebration of My Fellow Rare Disease Moms: from the Mother of a Son with CGD

When I was pregnant with my second child, I knew it would be different. We had all the essentials from having my daughter a few years earlier, and advice from family and friends helped me prepare for the balancing act that is having an infant and a toddler. When Grady joined our family, there were adjustments, of course, but no amount of advice or preparation could’ve equipped us for the journey that ensued after he was eight months old.

On a cold winter’s day, I discovered that Grady’s neck glands were swollen, so I brought him to the doctor. While the doctors didn’t know exactly what was wrong, they weren’t very concerned. They sent us home to watch and wait to see if whatever was ailing him passed.

But the next day, his glands had continued to swell, so I brought him back and the doctors did some tests. They discovered he had an extremely high white blood cell count, so he was given antibiotics; but his diagnosis was still a mystery.

With his glands still enlarged, our doctor decided we needed to admit Grady. So, in the middle of a snowstorm, we were flown to a children’s hospital outside of Denver, Colorado. Once we were there, several teams met Grady and began investigating his symptoms.

It was there that we met with a specialist who was familiar with primary immunodeficiencies. Fortunately, after about a week, this specialist was able to determine that Grady has chronic granulomatous disease (CGD), which increases the body’s susceptibility to infections. It happens because of immune system cells that are unable to kill certain types of bacteria and fungi.

Coping with the CGD diagnosis was difficult, but after learning more about primary immunodeficiencies, I realized how lucky we were to be in a hospital with a specialist. Many families go through months and even years of the unknown when trying to get a diagnosis. For Grady, we were able to develop a treatment plan with the specialist to start working towards a healthier future. We have been fortunate because we have been successful in keeping serious infections at bay through the treatment plan we’ve developed, which includes medication and lifestyle adjustments.

As a mother, there is immense desire – and pressure! – to make sure your child is getting everything he or she needs. When your child has a rare disease, this can be extremely difficult. For example, as Grady grew up and became a wiggly toddler it became difficult to get him to sit still and receive his medicine. We went through so much together, and after each injection I’d be there to give him the comfort and calm he needed. It wasn’t easy for us to do these things because they were uncomfortable, but they were also incredibly necessary. While he was learning more independence, I’d let him give me saline shots to practice. My proudest moment as his mother was when he gave himself his own injection.

After all the challenges we have faced as a team, I can now reflect on the bond Grady and I have. It is so unique because of the things we’ve had to endure, what he’s had to learn from me, and the many things I’ve learned from him.

My daughter is an incredible lesson too. It’s been a journey to make sure she’s not only getting what she needs, but that she’s getting my sole attention as well. We prioritize something we’ve started calling “mommy time,” where we play cards together or go on a date to the bakery – whatever I can do to ensure she gets the one-on-one time she deserves.

This Mother’s Day, I’m reflecting on the incredible story I’ve developed as a mom this far and thinking of the other rare disease moms who share my experience.

Happy Mother’s Day to the rare disease moms who experience sleepless nights in the hospital wishing for a diagnosis, the mom who has had to inject their child, and the mom who does the best she can for her kids every day. When you become a mom, whether it’s for the first time or the fifth, it’s not going to be what you expect. It’s going to be much better.

About the Author: Jennifer is a caregiver, mother of two, wife, and landscape architect. She dedicates her time to learning about the rare disease her son lives with, Chronic Granulomatous Disease (CGD), helping others in similar situations, and sharing her story. She is a great advocate for other rare disease caregivers and lives in Aspen, Colorado. Check out her story and perspective on motherhood on Patient Worthy.

To learn more about CGD, click here.

Follow us