Our Duke AHC Clinic Experience – Margaux Hufnagel
Usually when a family takes their first plane ride with their toddler it typically is to a fantastic destination. Likely you’re off meeting dear family members, perhaps if you’re lucky you’re off to a tropical island (HA!) or even Walt Disney World. James’ first plane ride was to meet the wonderful doctors, nurses and staff at the Duke Medical Center in Durham, NC for his first AHC Clinic.
My husband, Jim, and I decided to take James as soon as we could to the AHC Clinic at Duke. The more information we received about Alternating Hemiplegia of Childhood the better we could plan for his future in hopes of giving him the brightest one possible.
We landed on Monday in Raleigh Durham, the clinic started on Tuesday. What is wonderful about the clinic is that they take one family at a time. So when we arrived we knew we would get great one-on-one care. We got to meet the CEO and founder of Cure AHC, Renee and Jeff Wuchich and their darling son Matthew. It was clear that Matthew and James would hit it off.
Matthew has a different mutation than James (E815K) and is thriving. He was eager to share his toys and shining personality. I give Jeff and Renee lots of credit for giving their son a wonderful environment to grow and thrive as well as spearheading the efforts at Duke with running Cure AHC.
The next day started the clinic and appointments. Leading off was a 4 hour EEG. Here’s where I’ll try to do my best Winston from Ghostbusters impression, “If someone asks if your child would like to be sedated, you SAY YES!” I thought at the time that he’d be fine and like Ray, said, “no.” Well, while he got them on in a relatively short time the kid screamed and kicked and was overall very irritated. But once the cap was on, he wasn’t phased in the least bit. Even took an hour nap!
After the EEG we met Dr. Kansagra, the sleep specialist. We discussed James’ sleep patterns, if he snored or if there was anything concerning to us about his sleep or breathing. To be honest, his sleep period is perhaps the only time I can truly “relax” to the point of not worrying at Defcon 4. James has a great bedtime routine that works for us and takes two naps a day. Needless to say he felt good about what we told him and we decided to postpone the sleep study. (Note: I am also expecting James’s brother come December, so being in the hospital over night for a non-restful nigtht of sleep wasn’t the best thing for me, either. Had I not been pregnant I probably would have gone ahead anyway with the study!)
After the sleep study it was time to get an EKG and Sonogram of James’ heart. Both tests went fine, blowing some bubbles was a lifesaver during the sonogram and once James got his Holt Monitor on it was like the EEG cap, he didn’t even touch it. Afterwards we had a good deal of down time and decided to explore the campus. The medical center itself is HUGE. The Childrens’ Health Center had everything you needed for the care of your child. We were even impressed with all the toys and structures that helped keep James occupied as we went through all our appointments.
We all got back to hotel late that afternoon wiped. James went straight to sleep and Jim and I passed out by 9.
Our first appointment on Wednesday was with Dr. Melanie Bonner who examined James and evaluated his milestones. He was in wonderful James form and impressed her with his eagerness to play. She was pleasantly happy with what she saw and I was obviously happy to hear he was well within normal for his age.
Afterwards we met with Lindsey Prange, RN who works closely with Dr. Mikati. She went over James’ medical history very thoroughly. It was in this moment I’m so glad I kept my journal but I felt like there was a lot I couldn’t remember as James’ episodes kinda changed since he was a baby. It was slightly exhausting rehashing all those tough times but the more I could remember the more I know it will help other kids and getting their diagnosis.
We decided to go check out the Duke campus, visit the University store and of course Cameron Indoor Stadium. It’s on the bucket list to go to one of those games. We are huge fans of Coack K so it was fun to be right outside the place he made famous.
We decided to have dinner at a local haunt, Bullocks. I think James and Jim enjoyed the BBQ chicken and I loved the fried okra.
We finally got to meet the man himself, Dr. Mohamad Mikati. What a personality! We laughed because he ironically was in Boston the first few days we were in Durham! We joked that we maybe could have saved the trip ;-)!
He went over every question we had and gave us such thorough information about AHC and what exactly is going on in James’ body.
For us non med folks, it’s like this: Imagine James is an engine but one of his pistons is slightly off. It works most of the time but when he gets really excited it moves faster than most engines and therefore gets off track. Sometimes it’s off track for a few minutes, sometimes days. If left “off track” long enough it could cause delays in his physical or mental development.
James uses a drug called Flunarizine to help protect his brain and body for when these moments happen. We have found the drug has made these “off track” moments happen less and help him rebound quick when they do. We are lucky that it works for James and that he started it early enough.
What we need to be aware of now is seizures. 50% of children with AHC develop seizures. So far James has not had any seizures but we are on high alert – watching carefully for the signs.
James also uses more energy for his little engine than most and therefore tires quicker and needs a little more TLC. Imagine a toddler boy that requires MORE energy? I know. But that just means in James’ everyday the little things he does requries more energy that we can see. So he eats a little more, rests and little more and requires a little more downtime.
Right before we left we had the pleasure of meeting AHC champion, Lexi. She has been staying at the Ronald McDonald house in Durham for a while now as the doctors figure out why she’s been experiencing so many seizures. She and James share the same gene mutation – D801N. Of course, once again, they hit it off amazingly.
I walk away from this clinic with two words: Optimism and Realism. Dr. Mikati did say he felt very optimistic for James’ outlook considering his medical history and the fact that he was diagnosed at 12 months, but James could still develop epilepsy which we are now on alert for.
We are so excited about the research going on at Duke. How they have mice models who have the AHC mutation in them and now can examine what helps (or hurts) their disorder. I feel extremely optimistic that strides will be made in the near future that will help normalize James and his friends so that they can experience so many more days to just be themselves.
Margaux, Jim & James