Mucopolysaccharide Disease - don't worry I had no clue either!

Yesterday we headed out down to UVA Childrens and met with Dr. Wilson.  Our Genetic Doc here in Richmond sent us to him because she is all out of ideas and she keeps coming back to him having some type of storage disease and evidently this guy knows a thing or two about them.  Dr. Wilson went through his history and said the only thing he could see missing from testing was a Microray Study.  Um no, actually we already had not one but two of those suckers done, go ahead and check out page 7, paragraph 3 here in my handy dandy notebook.  So he did and scratched his head a bit and said we needed to go see a doctor who specializes in mucopolysaccharide diseases.  And for the Moms turned Doctors who read my blog here is what that word means:

one of a group of genetic disorders characterized by greater than normal accumulations of mucopolysaccharides in the tissues, with other symptoms specific to each type. The disorders are numbered MPS I through MPS VII, and each type has a specific eponym. All types are characterized by pronounced skeletal deformity (especially of the face), mental and physical retardation, and decreased life expectancy. The disorders may be detected before birth by testing fetal cells present in amniotic fluid. After birth, diagnosis is established through urine testing, skeletal changes observed on radiographic films, and family history. There is no successful treatment. Kinds of mucopolysaccharidosis include Hunter's syndrome (MPS II), Hurler's syndrome (MPS I), Morquio's disease (MPS IV), Sanfilippo's syndrome (MPS III), and Sly syndrome (MPS VII).


So he said there is a great doctor in Minnesota....whoa, holdup.  Than he mentioned one at UNC which is about 3 hours from us so we will be hitting him up first and than I suppose if he can't figure Ethan out, Minnesota we will go....

Ethan was acting a little "off", he slept the whole day, didn't eat much and generally seemed "off".  His eyes were getting really puffy which is usually a sign for him that his lactic acid levels are on the rise.  I suspected he would be sick in the next 24 hours.  Wish I was wrong...
 
 

 
When we got home his temp was over 103 and he was lethargic.  I also noticed a strange odor to his urine.  Great, I had just bragged to the Doctor at UVA that he had not had a break-through UTI in a year.  Guess I jinxed him.  He slept most of the afternoon and night but his fever got as high as 104 with Tylenol/Motrin rotation.
 
This morning Chris had to leave at 5 am to go to a meeting out of town.  Shortly after he left, Gracie woke up complaining of a stomach ache.  The next hour proceeded with her vomiting and ahem other things all over the bathroom. Lovely, very very lovely way to start our day!
 
Ethan went into the doctor this morning, they cathed him and were only able to get about 4 drops of urine but the nurse and I looked at each other and we both knew just by the color and particles that this kid has a UTI.  So we have some really strong antibiotics to get us through the next 72 hours until the culture comes back. Oh and for a little extra drama he had a little seizure because of his high fever....so he has slept all day and still is.  His fever is 102 now but he is sleeping comfortably (right next to me) so I'm sure I won't be sleeping much tonight. 
 
 

Remember back in February when they tried to do the Deflux Surgery but couldn't?  Since he hadn't had a UTI since last December we thought we were good but now I'm worried that his Urologist and Nephrologist will want to go forward with the Reimplantation surgery since he is still showing Grade V reflux bilaterally.  Guess, I will know more in 72 hours when the culture comes back and they change his daily antibiotic. 

On another note, Gracie is feeling MUCH better and is back to her "normal" self...

Sunday Funday? Not so much....

So yesterday started out great.  We got to Sunday School right on time...which usually we are running about 5 minutes late so I thought that was an omen of good things to come....not so much!

This sweet child

acted like a complete fool 3 year old at church.  She decided to plant her feet at the altar after we had finished communion and not move so I had to pick her up like a football while her dress was pretty much over her head and her tights were hanging out for the world to see all the while she screamed at the top of her lungs "I want my Daddy" as I walked her out of church. So needless to say we didn't stay for fellowship because you don't get to have fun in our house when you act like that!!!

Later in the afternoon Chris took Jake to his basketball tryouts and I took Ethan, Anna Claire and Gracie up to Kohls to pick up his new shoes since his Sure Steps are coming in this week.  My goal was to get in and get out in less than 5 minutes.  I knew exactly what we needed.  With my coupon in hand we zipped in and out in under 5 minutes.  Mission accomplished...NOT!!! 

I locked my keys in the car....with my phone....and my card that has the roadside assistance number on it.  So, I go back into the store with all three kids.  Find someone who has a phone with Internet so I can look up the phone number for roadside assistance, go to customer service, call the number only to be told that I need to give them the VIN number of my car. I guess most people memorize the VIN number on their car because the woman thought I was crazy for not having it.  So, I had to walk all three kids all the way back out to the car and look through the window and write down the VIN number, go back into the store, call roadside assistance....needless to say an hour and half later a tow truck showed up and got my keys out.  To keep Ethan and Anna Claire entertained for that hour and a half we walked over to the Dollar Store and did what any other mother in her right mind would do....bought them Cheetos....

and this is what they looked like when we got home....

Hope your Sunday was fun :)

Special Nights For Special Needs

Tonight we went to our first Special Nights For Special Needs Event at the Childrens Museum of Richmond and we had a great time! It was so great to be around other parents of children with special needs, I never once worried what others were thinking when Ethan had a melt down.  I never felt judged or stared at.  What I felt was welcomed.  I also met a new friend and her sweet Jimmy!  I do believe that Jimmy and Ethan are gonna be buds!

I hope you enjoy the pictures as much as we enjoyed our evening...

Special Needs Playgroup

As many of know being the parent of a special needs child can be very lonely!  I have 3 other children so you would think I would know how this whole parenting thing works .... This is a whole new ballgame!  I have been looking for a local playgroup for Ethan so that we could meet other parents in our situation and Ethan could meet other friends and I couldn't find one so I'm creating my own....can't wait :)

Lesson learned...

I've been in a bit of a mood today.  I didn't sleep very well last night and thought a lot about what had happened at Ethan's gym class.  I prayed.  I let it go.  I feel better now.

So this afternoon we headed over to get Ethan fitted for his new Supra Malleolar Orthosis aka Sure Steps. 

They are nice and thin and very flexible, now we have to find some shoes that he can wear them.  The Doc suggested skater type shoes or converse.  I have two weeks to find some cool kicks for him but I'm digging these...

While we were there the sweetest boy about 10 years old, wearing glasses, with one eye, a large scar from where a trach had been in his neck and braces on his legs walked up to us and asked me if he could say Hi to Ethan.  It was sweet, that sweet boy bent down and said to Ethan, "You have glasses, your just like me."  He was so well mannered and sweet and I thought to myself, "Yes, I hope he is just like you because you are so well behaved and have the best manners"  Yep, that was my lesson from God today after my little melt down yesterday....you just can't judge a book by it's cover!

After we were done we walked next door to check on the status of his wheelchair and guess what???? It was in!!!  Unfortunately, we didn't get to bring it home because we are still dealing with insurance garbage but here is a sneak peak of things to come....

A First for Me....

I knew it would happen, I've read about it happening to other Moms so I shouldn't have been so taken back. But...I....Was! 

Ethan has started taking a class at a local gym called romp n' roll and he loves it, the music, the lights and the bubbles.  Oh man he LOVES the bubbles.  He mostly just loves to do his own thing and here is where I insert the word "TYPICAL"  you know like a typical almost 2 year old.  The problem is though is that he is not typical, developmentally he is more like an almost 1 year old.  So I signed him up for the "Babies Class" the kids are anywhere from 6 months to 12 months and the first couple of classes that we have done have been fine but I think the kid has gotten comfortable.

Because today, he decided to act like a typical almost 2 year old with all of these sweet little almost 1 year olds.  You know what I'm talking about, throwing things, being defiant and laying down and throwing a tantrum when it was time to do something he didn't want to do.  Just real typical stuff and had we been in a class with other almost 2 year olds I wouldn't have cared a bit. But we can't be in a class with other almost 2 year olds because he is just not there yet.

In fact I'm the Mom that will walk her screaming and crying kid from the front of the church all the way to the back of the church in the middle of a sermon and take them to the bathroom and ahem I'll let you figure out the rest.  I don't tolerate it, my parents didn't, my grandparents didn't and I don't!  In fact, I have even walked out of a grocery store and left a cart full of groceries because I gave a "if you do that one more time we are outta here" and had to follow through.  Yep, I'm that Mom and I don't care what you think about my parenting style.....but alas, I guess I really do. 

And I'm not happy about it one bit!!!  I hate that I felt the big fat elephant in the room after class as the awkward silence came over us as we were putting on our shoes and leaving. I felt like they were thinking to themselves - why is this kid here interrupting my kids fun time?

 I felt like I needed to say something, to apologize, to explain why Ethan is the way he is. Wow, that makes me so angry...I don't feel that way about the other ones when they act up! Guess, I need some advice from some other special needs Mamas....any one want to help a sista out?

This boy is serious...

about his Cars....

Seriously, this kid will spend hours lining his cars up and moving them one by one all around the house.  It is adorable to see him doing something so "typical"!