Rare Disease Awareness - Post 5

It takes a village.

I’m sure you’ve all heard the African proverb that it takes a village to raise a child. I couldn’t agree more. What I wasn’t aware of is just how many various professionals we would need in our little village!

Individuals diagnosed with EB are often followed by many medical professionals due to the complexity of this diagnosis. Graham is followed by 2 dermatologists who monitor and check his skin. He has a pediatric cardiologist due to a heart murmur they discovered at birth. He has a Pediatrician who we travel an hour to see, as he is familiar with the EB diagnosis. In the past, Graham received in-home health nursing services to assess weight gain (he was discharged due to great growth! Yay!). Graham receives early intervention services and currently gets the trifecta of therapies - occupational therapy, physical therapy, and speech therapy. He has a service coordinator who helps to manage his IFSP, which is his Individualized Family Service Plan and next month he has an upcoming appointment at a comprehensive interdisciplinary EB clinic. Here he will also add a gastroenterologist, an ophthalmologist, an orthopedist, and a dentist to his team, too!

As you can probably imagine, we were totally overwhelmed in the beginning. We were attempting to wrap our heads around this diagnosis while also trying to coordinate and organize the numerous appointments, meetings, and phone calls that were necessary to establish all of the great resources we now have. Those early months of Graham’s life are somewhat a blur. Partly because we were so busy adjusting to our new normal, and partly because Graham didn’t sleep... which left us feeling like the walking dead for the first 6 months of his life, ha!

If you know me then you also know I’m a pediatric occupational therapist by trade. It wouldn’t be right if I didn’t take some time to brag about how much therapy has helped my guy. I’d like to highlight how important and beneficial early intervention services are. This has been a well-known fact for me because of my career, and now I see it first hand with my Graham.

I requested an OT and PT evaluation for Graham when he was just 8 weeks old. I had concerns about him using his hands and fingers functionally since we had them wrapped all the time to protect the skin. He qualified for OT, and since then has made tremendous gains in terms of his fine motor development. When he was about 9 months old I requested a repeat PT evaluation as he was not yet sitting independently. He did qualify for PT services and is working hard on those gross motor mobility skills! He’s not yet walking or crawling but he has mastered his sitting balance and is beginning to scoot, rotate, and pull to stand.

Most recently I requested a speech therapist evaluation for assistance with feeding techniques. Graham has a tongue tie which is common in children with EB. He has difficulty moving his tongue and jaw and this makes eating thicker purées and even dissolvable solids difficult. We are now working with a speech therapist and have seen immense progress in just a few weeks! Soon he’ll be gobbling down those puffs I always see babies eating.

On a more serious note, we are truly blessed beyond measure with the most wonderful and knowledgeable therapists who are significantly contributing to Graham’s continued successes.

When we look at Graham’s progress it’s nothing short of amazing. From being told we may never have the opportunity to take him home from the hospital to seeing how far he has come is remarkable. Sometimes it’s easy to get discouraged with all the skill areas where we hope to see improvement. But, it’s at those moments when we must remind ourselves to step back and stop looking at what he isn’t doing yet and focus on ALL that he IS. Our incredible, tiny hero is going to do things on his time when he’s ready, and that’s absolutely fine by us. We are just going to keep supporting him, advocating for him, pushing him, celebrating him, and loving him with everything that we have. He is the captain of the ship and we are just happy to be along for the ride.

“Let perseverance be your engine and hope your fuel. “

#thisisEB