{Serisously}

 We serisously need to find a cure {or treatment} for children with Trichothiodystrophy and or Mitochondrial disease.....

because no sister should have to go to a grave to talk to her brother.

{Today was hard.}
 

 

A week in the life of my {HERO}

This week has been a hard one on my sweet my little Bubba.

"The only way to get through life is to laugh your way through it.

You either have to laugh or cry. I prefer to laugh. Crying gives me

a headache." Marjorie Pay Hinckley

I am amazed by his strength!!!

No matter how hard his days are, he still finds the smallest things to smile about. :-)

That smile of his, that laugh, well... they make any hard day bearable.

MORE......

 Highlight..... getting to spend time with my little family!! Oh, I love them so much!!!!
 Another HUGE highlight was the beautiful cloudy and rainy weather we were blessed with. The beautiful weather made it possible for us to be able to enjoy DC.

Highlight....... getting YUMMY cupcakes from DC cupcakes!!! {Oh, and did I mention having my sister with us???.... oh, ok... I thought I would mention that one again. wink!}

Highlight........ watching my 36 year old husband scream when he saw Ric Flair's original costume. He kept going around say "WOOOOOOO" {Or how ever he says it... wink!}

Highlight..... all of the beautiful signs of spring EVERY where we looked.

Highlight..... Making new friends.  We always make lots of new friends from all over the world while we are at the NIH. This time we were lucky enough to meet a beautiful woman who like Bubba is allergic to the sun { Xeroderma Pigmentosum or XP}. It was wonderful to talk to someone who understands what it is like to have to take two cars to a party becuase you never know if it is outside until you get there..... and then if it is needing to leave. She has two beautiful daughters and she told me about having to watch their soccer games from the car.  Oh, it was so wonderful to talk to her!!! She is so beautiful, with a heart of gold.

and of course Bubba LOVED on her :)

Highlight..... Having my sister with me... OH, sorry did I mention that one. wink!

Highlights............

One of the highlights from our week at the hospital was hearing the words…”You and your hard work is the only reason that Collin is still alive.” This comment was directed to Jason and I both and I would like to throw Regan into that compliment as well, her continued love and support for her brother has helped so much. This sweet compliment got me thinking, it took me back to the day that the doctor told me that Bubba would not live to see his first birthday. I started thinking about what a long road it was to even begin our journey as a TTD family. Every time I questioned Bubba’s pediatrician about his delays I was always told that it was because he was premature. After a sweet friend told my that my son had CP, do you remember that story?, I went into this same doctor and confronted him. He told me that he had known for a while but did not want to overwhelm me. Well, I left that office in tears, never to return again. The only good thing that came from that first doctor was a referral to Bubba’s wonderful neurologist. She gave me hope that is wasn’t “just CP” but that all of his symptoms linked to a bigger picture. With her support and help I took Bubba to LA children’s hospital in hopes of a “real” diagnosis. I was discourage to find that this team gave up before even getting really started. So, I then took Bubba to UCLA to meet with a team of specialist there. Every doctor that has ever seen him has been intrigued by all of the MANY different things going on with his body. The team of doctors at UCLA were no exception, they came back with a possible diagnosis. I left their office excited and confused, the diagnosis didn’t make since BUT it was an answer …. Right? So, then I took Bubba to Cedar Sinai Hospital to meet with a doctor that specialized in the diagnosis that the team at UCLA thought he might have. The second the doctor walked into the room he said…. “Nope he does not have X, I am so sorry…… give us a minute please.” They came back with a new diagnosis….. Trichothiodystrophy {TTD}, this diagnosis made since. The picture in the text book even looked like Bubba. They copied the paragraph description from their medical book and sent me on my way. They did not feel comfortable diagnosing him since it was so rare. I finally had an answer but at the same time still felt completely clueless as to what was going on with my child. I contacted NORD {national organization for rare diseases} and asked them if they had any information on TTD, to my surprise they did. In just weeks I had a HUGE packet at my door, most of it was research and I did not understand it one bit. I did notice that in the foot notes there was a name Dr. G and Dr. K from the NIH. Thinking that I had nothing to loose I called 411 and asked for the number to the National Institute of Health, I then left a message for the Dr.’s describing Bubba. To my surprise my phone call was returned by a very sweet voice, her name was Debby. The team of Dr.’s at the NIH worked with the team of Dr.’s at Cedar Sinai to collect hair samples and take a biopsy. At the age of three Bubba was finally diagnosed with TTD. I was excited and scared at the same time. This illness is so rare that even the specialist did not have the answers to all of my questions. Shortly after Bubba’s diagnosis of Trichothiodystrophy we were on a plane headed to Maryland. Bubba was one of the first children with TTD that the team saw, he was a pioneer in their mission to find answers. In the beginning of our trips our hopes for immediate answers were crushed but we hoped that if nothing else maybe it would help a future child with TTD. Here we are almost eight years later and their research and knowledge of TTD has grown leaps and bounds. They now have seen around 36 patients living with TTD. Hey, that is a ton considering there are only around 100 diagnosed cases in the WORLD. I am so grateful for this amazing team of doctors that are working so hard to find answers this awful beast that is TTD. I feel blessed that our very long and frustrating road led us to them. It makes me sick to my stomach to think that the government is still trying to cut their funding. This team is AMAZING, the work that they are doing is incredible, and their love and hope for answers is irreplaceable. We are so grateful that our long road always leads us to their front door.

Another highlight...... Spending time with my wonderful sister and knowing that my baby girl was well taken care of while we were at the hospital. Regan had such a BLAST with her Aunt Karen!!! In the car on the way to the airport Regan asked "Can Aunt Karen come and play with me next time too!?!?!"  One night Karen and I got to sneak away and have a grown up dinner together. I LOVED getting to spend time with her. I admire her for so many reasons.... she is so independent, smart, strong, loving, and kind hearted. Our paths in life have taken us in different directions but one constant in both of our lives is the love we have for each other. I am so grateful and proud to call you my sister!!!

Another Highlight..... how well behaved both of the kids were on both of the 5 + hour flights. They were AMAZING!!!! We all know Bubba's love of opening and shutting doors... well, add opening and shutting airplane windows to that list! wink! I am sure we drove everyone around us crazy BUT it made him happy :)

A HUGE highlight for Bubba was the metro..... oh that boy and his love of trains,  a good bus, and I think we might even add planes to it now. :)

After a long day at the hospital we found a toy shop. I would have bought him anything in that store to reward him for how well he was doing. Well, what did he choose.......

a BUS :)

MORE highlights to come.......................

a little glimpse.......

into Bubba's week and what he has to endure.

In my photography class my final assigment is five pictures that tell a stroy.

So, on this trip I tried to capture the story that is "kids with TTD".

Jason and I traded off with the tests and scans, this way

 I was able to capture a little of what Bubba's week was like.

Bubba still had a hug and smile for everyone, he truly inspires me.

{I will share more about our week later but for now.... I am tired.}