Signed-Sealed-Delivered

I had my phone consultation with the Research Coordinator last Wednesday.

The nice part...

she knows Hudson, and me.

It was the same gal that we saw and I spoke to weekly/monthly when Hudson was
on that research drug Ganaxolone.
It helped in making me feel very comfortable to ask all of my questions pertaining to
this latest research with this DNA testing.

I found out that there are 20 children that will be involved in this study.
There is a tier that has been created and right now they are working on tier 1-3.
Hudson is in this tier. What this means is that basically tier 1 is the most medically fragile and
greatly affected children. Dr. Santeto basically had much to do with who would be chosen for this study, he submitted names...which is why he were chosen. Laurie told me he is not in tier 1, but that he is middle of the row, so I am guessing tier 3. I told her, in my opinion, from what I see, and read, he is among the most fragile and affected and yet we have no real answers other than seizures due to electron transport chain deficiency.

The big question of course is, is there a "down-side" to participating in this study...because I don't see one, in fact I am thrilled we were chosen and able to do this.
She agreed...really no down-side other than you could get information you may not want to hear but I really can't imagine hearing anything worse than what I have heard in the past 3 years.
There is also a possibility that there could be nothing found, no further information. Again, no loss, really.

Some families have already gotten there results through this study. It can take up to 2 years, but it sounds like most are getting results pretty quickly.
For us, the info will go to Dr. Saneto, and then he will give us the results.

This study is only being done at Seattle Children's and the hope is this will become a "clinic" test in diagnosing mitochondrial disease.

Pretty amazing and very cool to be a part of something that could be beneficial to future mito families, even if it proves to give us no information on Hudson...it may help others get a less invasive way to diagnose this disease.

Laurie and I also talked about how Mito needs research money so bad. So many illnesses are treated at the "surface" level and are never researched at the "core" level. Meaning, as Laurie told me, it is believed many cancers, Parkinson's, Alzheimer's...and many more diseases/illnesses that have sudden onset are treated just for the disease at hand, but how do these appear out of nowhere in people? It is believed in the "mito world" that many of these are the result of mitochondrial dysfunction. Research costs so much money, but if we tackled the core of these diseases (the mitochondria) then we would get to the root of the problem and hopefully eradicate alot of these illnesses. Instead we are satisfied with not knowing why people come down with such sickness as long as we can treat and cure the symptom at hand.

This is why I am so grateful to have Hudson in Seattle. I know if any gains are made in mito research it will likely be here and to be a part of it and have opportunities such as this one is why we remain here.
God has truly turned so much of our pain and suffering to good.
I see things so much clearer when little things are revealed to me.
I continue to search for the miraculous ways God works in our lives daily.
No...it's certainly has not been in the obvious way of a miracle...an end to seizures, a miracle drug, etc.
but God does show his presence and his divine hands touching our lives on a daily basis...it is up to me to keep my eyes wide open to see what will be shown next.

I am praying for some answers by doing this test.
I am praying it will help us in our situation or somehow in the future.
I am praying this will help future families  and their children affected by this disease.
I believe God has great purpose for Hudson and his life.

The papers went in the mail on Thursday and I will be called next week when they have submitted his DNA into the study.
Please join me in prayers for answers.



***********
Hudson's tonics remain steady, not quite as many, but I believe he has now come down with yet another cold.

Seizures .....endless seizures

It has been really bad lately.
Just seems to be getting worse with every passing day.
It sucks.

I finally called the mito nurse to vent.
To tell her how bad Hudson has been lately...
it all went to voice mail, but she did email me back later this afternoon.

Dr. Saneto is once again raising his Lamictal.
We are going from 100 mg 2x per day to..
200mg 2x per day.

Lately it has been such a vicious cycle....

He has a tonic seizure
followed by a large cluster of spasms
followed by throwing up
followed by passing out...for hours

Yep, back in this pattern

It is so bad that the only time he is awake is to go into these gawd-awful seizures
and then the pattern happens and he falls beck asleep only to wake and do it again
and again
and again!

The vision teacher came over for the first official time yesterday and
Hudson had a seizure right before she got here.
He threw up all over himsself  because I was answering the phone to let her in our neighboorhood
it was all over his face and clothes.
Cleaned him up, she knocks on the door and he is gone...to seizure-ville...nothing we could do was going to wake him up...she turned around and left.

Today he has seized and slept all day.

We had a GI apt. at Children's.
First time I got an A+ in this medical crud I drown in.
Dr. Burpee (our GI doc...the name kills me!) told me he has never seen a G-tube site like Hudson's.
It is by far the cleanest, most perfect looking G-tube site he has EVER seen.
What can I say...I guess I am just good like that! Ha! (made me chuckle)
He wanted to know my "secret"...I guess I am just completely anal about bathing him. Rarely does he go with out a bath at night, other than that I have no idea why we are so good lookin' in the button!

Praying the Lamictal helps...thus far...doing nothing...not feeling to hopeful. Can't imagine yet another increase helping but we'll see.

Keep Hudson in your prayers. He is really, really struggling with seizures!

Birth-days/ Mother's Day all rolled into one weekend!!!

I can honestly say I was not saturated in sadness on Friday, Hudson's birthday.
I believe it was the first time since I knew his life would not be as planned...
that I didn't feel sad and teary eyed. I really felt so happy for his life and our time together as a family sharing in this celebration.
 Although the seizure monster does not discriminate and leave us alone on birthday's,
(for some reason I always think he will catch a break on his day)
but nope...
I still  felt the celebration and the joy all day...
from friends
family
bloggers
it was a fantastic day for our little guy, and I am certain he felt special and honored!

We did as planned and headed to Seattle in glorious 70ish sunshiny weather.
We first went to the Ivars at the pier and had fish and chips and chowder

Then to Pike Place Market,  which we did a quick walk through because the kids had their hearts set  on going to the Seattle Center for some rides....

We made it home just in time for the celebration to begin at my moms house.
My brother and Fred were there and so were our good family friends the White's.

Hudson stayed up chatting with us ladies until 11:30 p.m. while all the kids and guys were snoozing!
No way was Hudson missing out on any of his party!
That is until we got home and got all cleaned up and tucked into bed...

Sunday I was treated to breakfast in bed by my kids and husband.
They really spoiled me as I stayed in bed until 12:30 in the afternoon!

Today I am a year older and so we also celebrated me Sunday since Paul had to leave at 3 a.m. this morning for the airport :(

Breakfast in bed, washed and detailed my car, and dinner out alone!
He also made me appointments for a spa day today and I was massaged and rubbed and exfoliated and parrafinned and nails and toes polished! It was over 3 hours of pampering today!!!!
Then my mom and a friend took me out for lunch afterward...

I am loved by so many, and have so many special people in my life...

between the phone calls
emails
facebook

 I tell ya...this girl feels the love!

3 years later...no sappy talk...only celebration!

At least that is what I am telling myself!

Tomorrow is Hudson's 3rd birthday.
Time has flown and stood still all in the same breath.
Many of you know what I mean.

My mom is busy preparing our gathering tomorrow night.
Paul is flying home tonight, and a special day is planned for tomorrow.
Hunter doesn't know it but...
Seattle is having some gorgeous weather AND
it's a special boy's third birthday AND
our family, The Austin 5, are all together...
so Hunter is playing hookie from school and we are heading to Seattle for some fun in the sun!!!!!!

I think it will be a great way to not feel sappy. To make it feel like a special family day.
Then we get to come home to family gathered to celebrate what an amazing little warrior we are blessed with!
We have a very fitting theme for our 3 year olds birthday....IRON MAN! cuz that's exactly what he is!

NO SAP HERE....bound and determined to keep my heart and mind light, free from the heaviness of this disease...I owe it to Hudson and my family who is making this birthday so special for him!

We did get a early birthday present today...
I am very excited about this, and so I share....

This came in the mail from Seattle Children's...

Dear Mr. and Mrs. Austin,

I am a Physician at Seattle Children's and Dr. Saneto submitted your child's name as a potential candidate for a research test I'm developing. I am conducting a research study to develop a new test for Mitochondrial Disorders. The new technology used in this study will allow testing of hundreds of genes at the same time and hopefully provide a rapid, minimally invasive test to diagnose mitochondrial disorders. With your permission, we would like to use some of Hudson's banked DNA and test it using this new method. If you choose to participate, we take a sample of Hudson's DNA and label it with a unique study code and test the sample.
...............We are doing this study to develop a diagnostic test for mitochondrial diseases using a nest generation sequencing genome analyzer. This new technology allows high-throughput sequencing process for many genes at once. If patients are suspect of having mitochondrial disease, they usually undergo muscle biopsy to measure the enzyme which produces the energy. We are developing a diagnostic blood test for mitochondrial disease which can determine the alteration in the gene responsible for mitochondrial disorders. The purpose of the study is to find out if our development is good enough to be used for patient care and diagnosis. Currently, this test is not clinically available.

I am thrilled about this for many reasons! To get more info on Hudson specifically, and also knowing this could aid in helping families in the future not have to sent their child into day surgery to cut his/her thigh open and remove muscle and then wait months to get the results. Dr. Saneto had his DNA banked at our last appointment, so we don't have to do anything more than that, Hudson had the blood draw already!
I am hoping it will give us the info we need to know if this could affect Hailey and Hunter when they have kids one day. Narrowing it to a specific gene will allow them to make informative decisions. It could also reveal that it was a spontaneous mutation and only Hudson carries the gene. In the documents it says this test will take up to 2 years, so the research and answers will not happen over night.
In my opinion, this is a wonderful opportunity, coming at a perfect time, and I am ready to sign at the dotted line!

Have to share a little concert Hudson got yesterday in preparation for his birthday...what a lucky boy he is to be loved by so many....
Hailey and her best friend Victoria entertain Hudson...
Enjoy!

HAPPY BIRTHDAY BABY BOO-BOO....your family adores you!