In January, we had the opportunity to go to the National Institute of Health in Bethesda, MD {outside Washington DC} for a research study on Joubert Syndrome. They are currently studying the scope and spectrum of Joubert Syndrome and it's effects on other organs in the body.
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| First thing I saw when we landed. I LOVE me some Dunkin Donuts coffee. Best. Ever. |
Joubert Syndrome is caused by a genetic mutation from both the mother and father's side and results in an underdevelopment of the cerebellum and brainstem. This malformation most commonly causes decreased muscle tone, difficulties with coordination, abnormal eye movements, abnornal breathing patterns & cognitive impairments. However, it can also result in retina deterioration, kidney failure, liver failure, and a series of other more complex issues.
Parker is most affected by his low muscle tone and the delay in milestones as a result. He does have nystagmus {abnormal eye movements} but it has improved significantly and is continuing to improve. Since he was diagnosed, we have been seeing specialits related to all these areas of the body. And so far, we have been extremely blessed to hear that Parker has a clean bill of health and they do not foresee any of these organ issues in the future.
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| Waiting for his echocardiogram. |
Our trip to NIH, was a chance to see some of the top doctors in the whole world who really understand Joubert Syndrome and really take a close look at Parker.
We were flown out on a Monday morning and stayed through Saturday. Each day was packed with meetings and appointments. We were lucky enough to have my mom and Nick's mom fly out with us and spend the week going to appointments and even doing a little sight seeing with us. Our families have been our rock as we have walked this road and it was great to have them there with us.
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| Riding the metro to go see Washington DC |
The first day we registered and got our schedule for the week. It was much less stressful and open than I thought, and I was pleasantly surprised that they kept time open for naps and lunch. We started at about 8:00am and were finished by 2 or 3pm every day. Parker got an echocardiogram to check out his heart, an EEG to check on his brain waves and activity, an ultrasound on his entire abdomen, an eye exam with dialated pupils to check the health of his eyes, blood draws, urine samples, nutrition appointments, etc.
I was extremely nervous before we went and wasnt sure how Parker or I was going to do with all this invasive testing. As a mother, you NEVER want your child to have to go through any of that, and I was worried about what they might find.
However, the entire experience was so positive and I actually really enjoyed the whole experience and finding out as much information as I could. The doctors and the team were amazing. They were so positive about everything and really walked us through each step, letting us know that we are not alone. They actually made us feel normal for having to go through this.
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| My boys sleeping after a long day of testing |
Normal is not a word I would typically use to describe this journey we have been on, but the doctors didn't even bat an eye as I explained things to them and were so knowledgable that it felt so right talking with them.
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| This picture breaks my heart but is reality for us a lot. Nick had to hold his chin/neck because he was so upset and moving too much during the blood draw. They took 10 viles of blood! |
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| Being a trooper...much happier after the blood draw was over. |
We met with the team of doctors on Friday to discuss the results and what the future looks like. We were very pleased to learn that his eyes look great, his eye sight is actually slightly above normal for his age and they do not see any signs of retina deterioration. His kidneys and liver look great with no abnormalities on them. His heart was in perfect condition with no murmurs or defects. And all the blood work looked great, except for needing to be on a vitamin D supplement {which is no big surprise as we live in the land of no sun}. The conclusion was that Parker will eventually learn to walk, they expect that to happen at around age 3-4 and he will talk as well, he just will be delayed in meeting these milestones. None of that was big news to us, as that is what we are working on in Physical and Education therapy every week. They think Parker's future looks very bright and there is a lot of opportunity and hope for him.
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| During the EEG. He did GREAT! Just talked and smiled the whole time. |
It was so great to hear such a positive outcome, as we are usually used to having to process much harder news. We were able to take some time each night and do some sight seeing and shopping. We ate at some great restaurants and take in the history that is all over the East Coast. I seriously fell in love with the East Coast and am dying to go back and travel all over.
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| Nick and PD walking towards the Washington Monument |
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| Washington Monument |
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| Lincoln Memorial |
We also spent a lot of time talking about future kids and what that means for us. Because both Nick and I carry a mutation of the gene that caused Joubert in Parker, our future kids have a 1 in 4 chance {25%} of having Joubert as well. Our options for having more children are: pre-diagnosis implantation-where they would grow the embryo in the lab and then test for the affected gene and if the embryo was clear they would then do IVF and place the embryo in me; genetic testing at 10 weeks-where they would do an amniotesis and test the baby to see if they are affected and if the baby is, then they would abort the baby or if was was not affected, then they would let the baby continue to grow; use a sperm donor since the chance of the sperm donor having the affected gene is very small; adoption; or chance it and get pregnant hoping for the best and accepting the result either way.
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| Riding the metro back to the Children's Inn from our parents hotel. |
Obviously if you know anything about me, most of these options are not actually options for us. The two we have considered are adoption and chancing it. Since before Nick and I got married we really wanted a big family, and one of the most difficult things to deal with regarding this journey has been this issue surrounding future children and our family. After our meeting with the doctors, we decided we would wait until the end of this year/beginning of next to start talking about what we wanted to do regarding future kids.
BUT....little did we know....a little miracle was already in the making....
