National Institute of Health - Joubert Syndrome

I know that this post will probably be lengthy (and include more pictures than normal!) but please take the time to read through it. Feel free to leave any questions you may have (especially if you are a parent with a child with Joubert Syndrome/Ocular Motor Apraxia and were not able to participate in the study). Also, feel free to email me at macksmom25@gmail.com

The best way to describe last week is to say that it was quite exhausting but so much better than I could have expected. Here is a little bit of a background of why we went to the National Institute of Health- Soon after the Joubert Syndrome diagnosis I joined a FaceBook group designated for parents of children with JS. I saw numerous people commenting about going to the NIH so I asked and was given contact information regarding the study and immediately contacted them. The study was coming to an end but we were asked to come for the last week of the study. From my understanding, the study has been going on for several years (started out studying kidney issues in different rare diseases and turned into a study on Joubert Syndrome). They brought in 2-3 families each week to participate in the numerous appointments/examinations.

Before showing up I was able to connect (through FaceBook) with the other families who were going to be there with us- Jackie and her son Andrew who has JS and Mike and his son Marcus who has JS (Please check out the blog that Marcus' mom has-Lee Life and Lessons). We had a great time together. We spent our "down" time between appointments together and were able to chat most evenings. Mackenzie absolutely LOVED the attention from 2 older boys who were so sweet to her.

So onto the study.....

We arrived Sunday evening at the Children's Inn at the NIH where we met Jackie and Andrew. Since BJ and I had to check-in and get a tour of the Inn, Jackie offered to entertain Mackenzie with Andrew. Mackenzie immediately took a liking to Andrew when he offered to push her around in a car.

Monday morning rolled around and we walked to the main building (which was huge with numerous floors and different "wings"). Marcus and Mackenzie enjoyed waiting for appointments by making "silly faces" at each other.

 
We met Dr Gunay who is the doctor heading up the study and Joy Bryant who is the main contact for the study. They did a brief physical and "observed" Mackenzie while she played with Mr Potato Heads--for those who know Mackenzie, she is very particular with putting things together. If she messes up and we try to help her she will say "no!". She is determined to do everything on her own (which is how she is with walking now). Dr. Gunay said numerous times over the course of the week (especially when Mackenzie was working on putting together Mr. Potato Head) how Mackenzie is "strong-willed" and "determined" wanting her independence. Couldn't agree more! Dr. Gunay and Joy also said that these are characteristics that will get Mackenzie far in life especially given her circumstances.

Monday also consisted of an ultrasound on Mackenzie's liver, kidneys, and spleen and a GI consult. Here is Mackenzie during the ultrasound.

Thankfully we were able to get back to the Children's Inn to get a late afternoon nap in after a busy first day. Mackenzie was also able to play in the nice play room and meet Viola the therapy dog.

Tuesday morning was not fun! Mackenzie had to get blood taken (so many tubes were filled up!). As a side note- Heather (nurse in the picture) was great with Mackenzie the whole week!

The rest of Tuesday was spent in the eye clinic meeting with an ophthalmologist. Mackenzie had to have her eyes dilated which is never fun for her. The ophthalmologist said most of what we had already heard. She has ocular motor apraxia but that her vision is fine. He also added that she has slight nystagmus which many children with JS have.

Since we finished early afternoon, we decided to take the metro (or train if you ask Mackenzie:)) and go to the zoo. We figured we would skip nap. Five minutes after getting off the metro and while walking to the zoo, Mackenzie falls asleep in her stroller.:) We decided to relax in Starbucks until she woke up. We didn't last too long at the zoo due to it being close to 100 degrees but it was fun for Mackenzie to see many animals.

Mackenzie had more fun with Marcus Tuesday evening in the play area.

Wednesday was a VERY long day. We arrived soon after 8 and didn't get done till soon after 4. I was pretty sure Mackenzie would lose it by the end of the day especially with no nap however she was great (with a few meltdowns here and there:)). She had an echocardiogram, neurocognitive assessment, met with the nutrition consult, brief neurology exam/video tape, and had the 2nd part of the GI consult. She had fun with her friends in between the craziness!

Mackenzie did not want to wake up Thursday morning!

But Thursday wasn't too bad of a day. We all had to get blood drawn in the morning to send to University of Washington for the genetic aspect to see if a gene mutation can be found however only 50% of individuals with JS end up finding out what their mutation is. BJ and I both had ultrasounds done on ourselves. Dr. Gunay shared concerns over BJ's kidney complications he has had the past 10+ years and gave us helpful resources. She said it's hard to tell if this could be genetic or linked to Mackenzie's JS so I guess time will tell on that. Mackenzie had an EEG. She doesn't look too thrilled but she was content through most of it while she laid with BJ and watched Curious George.:)

Mackenzie was definitely done with appointments by this time. We ate lunch with everyone else and had our final "wrap-up" with Dr Gunay and Joy.

So what did we learn?

Mackenzie's health looks great overall.:) The nutritionist said that Mackenzie eats very well and the only concern she has is that Mackenzie's iron is low (but still in the "normal" range). Many children with JS have low iron. Mackenzie's liver and kidneys look fine overall however her spleen is larger than it should be (which works with the liver). Her platelets are in the normal range but on the low end which as long as they stay at a consistent level then there won't be a concern. During the GI consult, we learned how to closely watch out for liver disease since they call it a "hidden disease". We are recommended for Mackenzie to have an ultrasound on her kidney, liver, and spleen, check her levels through taking blood, and see a opthamologist every year along with continuing with the neuro-development doctor and therapies. Dr. Gunay informed us that Mackenzie is more on the mild end of the JS spectrum and again repeated that Mackenzie's strong-will and determination will definitely help her with her future.

Here are a few pictures of our last day. We definitely looked forward to going home but it was hard to say goodbye to everyone!

Thank you to everyone who sent thoughts and prayers our way! The week was so much more than we expected. We met 2 wonderful families and were treated so well by everyone at the NIH! The doctors, nurses, volunteers, etc were all so kind and respectful of us. BJ and I came out of the study feeling so blessed to have a healthy, determined, strong-willed, (the list goes on!) daughter. Like I have stated before- life isn't always the easiest on us but God gave us this life for a reason and we are constantly reminded to be thankful for what we have because it could always be worse. Once again, Mackenzie has taught us more than I ever imagined a 2 year old to teach us.