NIH

The Marshall Family is now back from our trip to the National Institute of Health where we were involved in a study that deals with the kidney, liver,eye functions with individuals who are diagnosed with Joubert Syndrome.

Joubert Syndrome is a rare genetic disorder that affects only 500-600 people worldwide. People living with JS have a risk of developing eye, kidney and liver disease depending on what gene they have. Matthew has officially been diagnosed with this rare syndrome, fortunately he has a mild case where he could possibly live a normal healthy life without none of the major diseases, but for now he's still at risk

We had a wonderful team of doctors at NIH who were very supportive of us and helped us understand this syndrome. We also got to meet two other families who are also affected by this syndrome, Derek,11 and Parker,10. I can't tell you how meaningful it is to meet other parents who are dealing with this same syndrome. We have definitely made new and lasting friends.

Matthew's scans and blood work came back perfectly normal, although he did get somewhat dehydrated from not eating before his blood work. Matthew's eye appt. however did go well but we did get a huge wake up call. Matthew's optic nerve in both of his eyes is somewhat disformed which is a sign of JS and a sign of glaucoma. So, now we're back to going to the eye dr. every year. Matthew's vision is perfectly normal and the NIH eye physicians don't believe that his optic nerve formation will hinder his vision at all, we just have to keep a check on them since he's at risk for glaucoma. However, I genetics dr. suggested to us that sometimes JS kids have this malformation of the eye and as they grow it appears to normalize itself.

Wednesday was another big day for us, we met with Dr. Heller, the GI doctor and he explained to us how the liver, etc works and said that Matthew's blood count and renal functions were better than normal and he suggest that Matthew has his blood work and renal ultrasounds every 2yrs instead of every yr. God is so Good!!! As you can see from the picture above, security is very tight here since 911.

These are some pictures of Matthew in the playroom at the Children's Inn at NIH and some of the pictures of the Inn itself. This is a wonderful, wonderful place.

I wish Matthew had a playroom like this at home, he'd never come out.

The Children's Inn at NIH is a beautiful Inn, they do make you feel at home. Bradley would have a different opinion, he hates hospitals and he liked the inn but he's not much on socializing like Matthew and I are. All in all we did enjoy ourselves. Matthew had his own mail box in PO area where he got mail everyday. Example: one day he got a stuffed cat and a pair of sunglasses, and one day some of the other kids staying at the Inn made him a craft. It's so cute.

As you can see Matthew was ready to go home, a long, long 8 hour drive with a toddler.

Bradley and I can truly say that this trip was worth a million. We saw other kids battling so many things, it has kept us grounded and humbled for sure. We can honestly say that we are PROUD to be call a PARENT along with all of the parents we saw and met at NIH. To us these parents are a true calling from God, these kids have amazing moms and dads that some children in the US and in the world don't ever have.

We are truly blessed with being Matthew's parents, he is definitely an adventure, and adventure worth sharing.