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.

33 and New Adventures with LOTS of Pictures

As you can see, I am officially 33 yrs old now. My brother-n-law also shares a birthday in August, his is the day before mine. So, for our birthday we all decided to go to a Dash Baseball game at the new stadium in Winston. We had a GREAT time as you can see below but it was sooooooo HOT. This was Matthew's first baseball game and we will definitely be going back before the season is done.

We also took our neighbors kids with us, Corey and Lawrence and yes we all 8 fit into the van. This is just another part of our Marshall clan.

Matthew stayed so sweaty the whole ballgame. While we were watching the game, Matthew was sneaking some sips of soda out of our cups.

Boy, is it HOT!!!!!

This is Matthew's new way of cooling off during the game. Isn't he so CUTE!!!

Corey and Lawrence

I can say looking back since I've turned 30 that when a person hits 30 life truly begins. At least it did for me. My mom always told my sister and I that your 30's are your best years. So far mine have been a test of my faith and I can say that I'm somewhat still standing strong, with God's help of course.

Matthew too is starting out on his new adventures, he starts preschool in 2 weeks going 2 days per week.

This week has been another reminder that God has His best in mind for his children and that he goes above and beyond when he answers prayers.

Let me explain. This past Monday we had our annual eye appt. for Matthew at Baptist with Dr. Weaver. If you ever met Dr. Weaver he would remind you of a very strict drill Sergent who is very sure of himself and can scare you to DEATH. He pretty much had to hold Matthew down to examine his eyes (we were there an hour), anyway, I just said a small prayer the whole time during our visit that everything would just be normal with Matthew's sight and no sign of nothing. Finally, at the end of our visit I explained to Dr. Weaver about Matthew's diagnosis from Dandy Walker back to Joubert and about our upcoming trip to NIH. He put his hand on Matthew's knee and told me to get a second opinion, two heads are better than one. He told us that Matthew's eyes are perfectly HEALTHY and NORMAL with no malformations,etc. He also said that he didn't want to see him til he's 4yrs. old. WOW!!!!!, but that's not all.

Our next destination at Baptist was to Brenners', I hate going there, it's so heartbreaking. I requested Matthew's genetic report and it had been 12 weeks and we hadn't heard anything. We waited and waited and I prayed like never before for nothing to show up but if something did that God would help me to accept His will and have hope. The nice lady at the counter finally led me to the phone where Dr. Jewett's assistant was waiting for me on the other line. She explained that there were 8 major genes that help determine Joubert Syndrome and that they found all 8 of Matthew's and that they all showed NORMAL with a negative result for Jouberts. However, this still doesn't mean that he doesn't have it, but maybe only a mild version. We'll get a confirmation yes or no when we go to NIH.

Next, I've been trying to find a preschool that would allow part-time attendance instead of full time. All I needed was 2 days. My last preschool on my list to call did accept part-time and they had exactly 2 days available for Matthew's age group. He starts in two weeks.

For those of you, including myself ever doubt that God doesn't answer prayer or isn't always there. HE IS!!! God answered my prayer beyond my imagination.

God is GOOD!!!!

P.S. Please keep us and Matthew in your prayers as we approach our trip to NIH.

HAPPY 2nd BIRTHDAY MATTHEW!!!!!

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Happy 2nd Birthday my sweet little boy!! You have grown up so much in the past year and have accomplished so much. Mom and Dad are so very proud of you. We feel so honored being your parents-God has blessed us truly with an amazing little boy.
This past year you've learned to crawl, walk, sign, use a spoon and crayons, walking up stairs independently and so much more. We hoped you enjoyed your second birthday as much as we loved giving it to you.

We love you always,

Mom & Dad

Matthew has truly been a testement to prayer this past year. We have definitely had our ups and downs but God has seen us through it all. I look back over the past year and realize that God was in control the whole time. Thank God he was, there's no one I'd whether be in control than Him. Matthew is learning by leaps and bounds, we are now getting prepared to start Matthew in preschool about 2 days a week. We're hoping this will encourage his independence and speech. He can do everything a normal toddler can do but he's so sturborn. Which of course he gets it honest, ask my parents.:)

Above is a slide show of Matthew's birthday party. He had such a good time and loved all of his toys.

Farmer Dale

Matthew is the true farmer, he loves being outdoors and LOVES animals. He has now learned to feed the animals, at least bottle feed. Every Wednesday we go over to my parents' home for supper along with my sister and her family. It's FAMILY night with an added bonus- we get to feed the baby goats. Matthew was hesitant at first but after his first try, he got it down pat.

Matthew has officially been signed up for Hippotherapy at Riverwood, we start sometime at the end of August. We went this past Tuesday for a tour of the barn, meet the horses and his therapist. I do believe he's going to enjoy it. I envy Bradley since he's going to be the one taking him and them two having all of the fun. (Father and son time)

This is Matthew's first try at feeding the baby goat.


And this is Matthew's second try- he knows what to do now.

Along with living on a farm comes the dreaded mosquito bites. Check out Matthew's forehead.



This week I'm on vacation at home. Matthew and I have been somewhere everyday this week and what little break we have Matthew enjoys discovering new ways to play with a bowl.

Matthew loves being in the kitchen and the bathroom. We're still working on the potty some but it seems to have stalled for a bit. I guess he's on vacation too!! However, he still finds time to be fascinated by toilet paper.

Have a good evening-I finally get some quite time while Matthew takes his nap.

Getting Prepared

We started off this morning with this morning smile. Isn't he adorable!!! This week we've been getting prepared for our trip to NIH (National Institute of Health) We're going there in August to see what Matthew's chances are at developing kidney and liver disease, etc. I've been getting all of his medical records together, writing down what all he eats in a 3 day time span and what quantities he eats.

We've also had our 6 month IEP evaluation this week with a developmental assessment done. Matthew so far has made quite an improvement since his last development assessment at 6 months old. He has went from a 40% delay to a 22%-30% percent delay. His development right now is at around a 17-18 month old, a six month difference. Which isn't great but it isn't bad either as long as he continues to improve.

We also discussed in Matthew's IEP meeting about his therapy. With Gov. Bev Purdue cutting costs, some of Matthew's therapy may decrease. Example, he might lose his PT since he has all the basics and there are other kids more in need. Luckily for us we did get Matthew into HIPPOTHERAPY!!!! Which will help make up any difference in therapy if he loses what he has now.

We also discussed on Matthew starting school at 3(next yr.) We'll be having our school evaluation around the end of the year to see if he qualifies for everyday at school or half days or just a couple of days a week. Speaking of schools, Nancy Reynolds (Matthew's one day elementary school) is coming along nicely. Here are some pictures of it as it looks now.

After church today we had our business meeting, Matthew was playing with my camera and I couldn't resist getting this picture of him. Can't you tell how he feels about "business meetings".

Have a good evening and God Bless!!!!

Mr. Independent

This is Sadie, our SPOILED house dog. She's one of Matthew's best friends, he helps in the spoiling too. Sadie has more patience than I do and she knows how to easily relax-as you can see.

Mr. Matthew has become a very independent little boy here lately- he wants to help do EVERYTHING without your help. He catches on so quickly once you show him how to do something. He knows how to take the bubble wand out of the bottle and tries to blow bubbles or he holds it up to you to blow. He helps me unload the washing machine and load the dryer and then he likes to turn the dryer on. He also hands me the dishes out of the dishwasher to put and he tries to say "here" when he hands an item to me. He's such a smart little boy. And one of his favorite things is to unroll the toilet paper off of the roll and put it in the toilet. HE IS ALL BOY!!!

Since it's now garden time, Matthew likes to help with fixing the vegetables to be canned and frozen too!! It'd be nice if this stage would last FOREVER!! I could use all the help. I ended up canning 36 pints and 14 quarts of greenbeans, our tomatoes and corn are just now coming in. What a busy time of year along with Matthew's upcoming 2nd birthday!!

INDEPENDENCE DAY EVENT(S)

& LOTS OF PICTURES!!

We started off our celebration with a cookout where we invited some of our family over. Matthew had a great time and we found out he LOVES potato salad- just like his dad.

Afterwards, while the adults cleaned up, Matthew and Nathan went to play. We then headed to King for the fireworks display. Sorry, no photos of the fireworks, my pictures didn't turn out good. Matthew enjoyed watching the fireworks- he'd point to them and say "there, there" he actually sounded like "dare, dare", but he got the jest of it.

HAPPY INDEPENDENCE DAY!!

P.S.

Matthew had peed in the potty two more times, yohoo!! (averages once a week)