NIH Trip Update

I am not sure where to begin really...This trip to the NIH was a week that was jam packed with appointments and testing for both kids. We came home with LOTS of information and some needed follow-ups!

We flew into Washington on Sunday, June 1st. We arrived late in the evening and checked into the Children's Inn. our appointments started first thing Monday morning.

Monday:
We started the day by signing consents for our week. Following that Alex had a liver ultrasound which showed hepatosplenomegaly. Then Maddy had an Appt with a Physiatrist, OT and PT. This was a really informative appointment with lots of good information and suggested intervention. Maddy has hypermobility in all of her joints. This is adding to her fatigue and chronic pain. We are needing to see a physiatrist here who will order new (different) orthotics than she has always worn as well as a wheelchair for distances (zoo, six flags, etc). We need to continue to build strength through continuing ballet and adding in some other activities like swimming, horseback riding, and piano. OT needed more interventions and scheduled to see us again later in the week. Then Alex was off to an EEG, which was normal showing his Epilepsy is being well controlled with his medication. We finished the day with a meeting with the two main doctors overseeing our case to check in and make sure we were doing well and didn't need anything.

Breakfast before Day 1

Settling at the Day Hospital

Tuesday:
Tuesday was a busy day. We started the day with labs. Alex's labs are easy because we can draw blood from his port. After taking one look at at Maddy and both arms they determined she is a tough stick and decided she needed to go to the PICU to a procedure room to have their specialist use US to find a good vein and do everything possible to get all labs with one stick. Following labs we headed to neuropsych testing where both the kids and I were busy for all of 3 hours!The kids did amazing and their testing was really similar. they are both well above average in their verbal skills and low average/just below average in their motor coordination. Overall, they are doing great and no interventions are needed. After testing we headed back to our room to meet our doctor for a full History and Physical. (Do you have any idea how daunting it is to give a full H&P on Alex from pregnancy through now!) After we were done we met with a genetic counselor to go over more detailed family history. Then our day was FINALLY over!

In the procedure room for labs

Loving on the guinea pig in the playroom

A quick break for lunch

Wednesday:

We had to get EKG's this morning because we didn't have time to fit them in on Tuesday. Both kids hearts looked good. Then Alex had Audiology followed by Maddy. Again both kid's hearing was great. Then we had a very detailed, long Neuro-opthamology appointment. There were no surprises in this appointment either.

Heading to get Alex

Audiology

Waiting...

Thursday:

This was our busiest day! It was non-stop all day. We thought we were starting the day with a Spine MRI for Alex and a Swallow Study for Maddy (she frequently chokes on water). However, there were issues with both tests and neither wound up happening. Next Alex headed to Physiatry and PT. Their main concern was how extremely tight his hamstrings, achilles and glutes are . (he cannot even straighten his legs) They gave him a number of exercises to perform on a daily basis or he hs to go back to PT. The next tests were a brain MRI/MRS for Alex and a Liver US for Maddy. Alex's brain MRI was not back before we left. Maddy's liver has some changes that are concerning and definitely unexpected so we follow-up with our GI on Tuesday. More to come after that appointment... Then Maddy had OT while Alex went on a tour of teh lab with Dr. McGuire. This was by far Alex's favorite part of the trip. The OT was concerned during our first visit about her immature pencil grip. When they tried to get her to change her grip the hypermobility of her thumb joint was causing big issues. After trying many different grips she was still causing stress on her thumb joint (almost to the point of dislocation). The OT wound up making a splint that Maddy has to wear for any writing, crafts, sewing, etc. However, even with the splint she was still not able to get her hand in the correct position for writing. So she is using a splint and a special grip! Have I ever mentioned how hard headed she is! When Alex's tour was over it was his turn with Ot. She quickly determined he has the same hypermobility in his thumb and he left with a splint to match his sisters! After that we had another quick meeting with one of the doctors to go over preliminary results and let us know what needed to be addressed. Our final appointment of the day was a much anticipated meeting with endocrine to discuss some possible treatment changes for Alex's adrenal insufficiency. They went over history and the not our endocrinologist from home had sent and offered their advice on best options. We were finally done for the day at 5:15!

Alex with Dr. McGuire

The kids showing off their splints

Alex and Dr. Stratakis, one of the top endocrinologists

Enjoying our last night at the Children's Inn

Friday:
We started with the swallow study that hadn't happened the day before. Overall, it was okay. It did confirm she has a weak tongue and jaw and explains why she doesn't like to eat certain foods because it is really hard for her.  Then We had one last appointment with the dietitian before catching our flight home. She had met with us earlier in the week and came back with recommendations based on the 3 day food diary we completed for Maddy. Maddy is not getting nearly enough fluids during the day. Up til this point we have avoided needing to use her feeding tube during the day, but I believe that is about to change. She needs an additional 16 oz of fluid a day and it cannot be overnight. She is also low in Vitamin D. We will be discussing these concerns with our GI when we see him on Tuesday.

A few Shoutouts...Most importantly, a HUGE THANK YOU to my Mom who made the trip with me. She has been my rock my whole life and this week was no different. There is no way this trip wuld have been possible without her. The kids needed to be in different places at the same time more often then not. When she wasn't in appointments she kept Maddy Moo entertained and kept us fed. Mom I could not ask for a more devoted lving Mom and Mimi. We love you. And I appreciate that we can always find a way to laugh no matter what the situation. Next, Beverly, Zoey's trainer...This week was a huge test and Zoey passed with flying colors. It was so clear that all the work and effort that bev put into Zoey paid off. Zoey was close to perfect in situations that were at times stressful and chaotic. She was a favorite all over the NIH and the Children's Inn. Finally, a big thank you to the staff at the NIH. Not only are they exceptional at what they do, but the love and compassion and patience they showered on all of us was amazing.

Until next year...