mito/nuero visit...

Today was our 6 month appointment with Dr. S

Lots of emotions for me as I drive an hour to Seattle. I just never know what I am going to hear....
or not hear....the anticipation can be overwhelming....especially when I am running on little sleep.
Hudson was up most of the night, which in turn had me up from about 2:30 a.m. on...I was stewing over today.
What questions I needed to ask, what issues I needed to bring up....

The appointment wasn't good or bad...just felt like the never ending waiting game continues...
waiting on hope...for a med...2 to be exact...

I was told there is a med (not even in a trial) that has been used on 3 mito patients that were near death, and were given 90 days to live. Two of them were on supports and trached...apparently this med has changed all that...somehow it changes and strengthens the muscles in mito patients and they have also improved cognitively. It has dramatically changed the outlook of these 3 lives. The kicker is these mito kids were not seizure ridden like Hudson. Dr. S said he would love to try this drug on a child like Hudson to see if it would have as great an impact as non epileptic patients. Then we talked about a seizure drug that he is hoping to go into a clinical trial and said Hudson would be first on his list.
It is called the waiting game...waiting on hope...waiting on meds...waiting on something that would dramatically change Hudson's life for the better. I refuse to give up hope...this road can be so bumpy at times...it can be hard to stay focused on the truth...and not get caught up in the negative.

I mentioned the Gene sequencing DNA study that Hudson was enrolled in....we started that process in May and we have heard nothing. Dr. S has gotten info on many other patients that were enrolled in this but nothing on Hudson. So this is the crazy part.....
The study looks at about 700 genes to which they are trying to pin point the mutation. Dr. S says this is about half of the known genes, which means Hudson's gene causing this disease must fall in the half that is unkown and not part of the study, which is why no info has been discovered regarding Hudson.
Not good news....if we know the cause we could better help him....gggrrrr....so frustrating!

Sometimes it feels like we never get anywhere...we stay stagnant....in one place....the one thing that remains constant are spasms, muscle weakness and cognitive ability....the only thing that changes are weight and height!

Hudson was a perfect performer this morning...upon Dr. S walking in the room he had a "biggie" which he told me was a  tonic spasm. The single jerks that are real quick I am told are myclonic jerks.
So at least I have the right terminology now for whats going on. Bad news is the tonics are still spams which means infantile....never thought I would hate the word infantile so much...but I do!!!!!

Glad the day is done....TGIF.....now if I could just get some sleep tonight!!!!!

My darling trio...

The kids had their school Christmas concert last night. It was a very fun night and the performances were wonderful.
There was a bit of stress on Thursday when I realized the dress I thought Hailey would wear was too small (i think she had a 1 month growth spurt!), and the shirt and tie I bought for Hunter at Target was not fitting well either. I had nothing for them to wear...
Years past I have always get them all matching outfits at my favorite children's clothing store (Hanna Anderson) The clothes are pricey but they last forever and they fit my kids well and they are very comfortable. This year with the added expense of the Vegas home, we have had to play it conservative, so I planned on trying to get away with the most inexpensive look possible....left me stressed.
My dear mom swooped in and saved the day...Friday I had to work and had 2 therapists at the house.
My mom drove to Seattle (hour drive) and went to Hanna's and got all three kids outfits for the holidays....she even made an extra stop and got Hailey shoes! It took her entire day to outfit my kids...not to mention the amount of stress she relieved from me. The kids outfits were perfect, right down to the cute little headband and matching tights she got for Hailey...what a wonderful Christmas gift for me and the kids,
and now they are ready for Santa pictures and the rest of our holiday events and gatherings!

Thank you .....thank you....for that wonderful gift mom!!!!




BTW....Hudson is doing much better! :)

24 hours later...

I am seeing a slight improvement with Hudson's coughing and congestion.
I got exactly what I was after when I brought him to his pediatrician....
Augmentin with a refill....so he will be on antibiotics for 20 days....

Unless he needs i.v. meds/fluids...I have exhausted all my options in avoiding the hospital.
I have been deep suctioning through the nose, and mouth, administering nasal and oral antibiotics...
now I just wait, pray and see it all turn this little boys body around into a fighting machine to get rid of this darn cold!

Since our last hospital stay, I have noticed Hudson's hands and feet are icy, icy cold...all the time.
Sometimes his feet and hands appear purplish in color, with almost a bright pink tinge...I pointed this out on Wed to the doc, but he really had no clue....could it be poor circulation? this disease? both? I just never had noticed prior to his last illness.
Next Friday we see nuero/mito doc and I believe a dietician...I am hoping to get some answers with this and talk about seizures and meds. It probably wouldn't be a bad idea to try and get a seizure on video...it is just very hard to tell when they will strike...I used to get some warning signs...not so much anymore!

Thanks for cheering us on......prayers....well wishes.....it helps keep me going! :)

getting him in before he spirals

It has been a week since the cough began.
It has not gotten any better, I would say it has gotten worse.
He is sleeping, but when awake, he sounds very wheezy and gurggly.

I hate the peds office...
I love our prediatricican...but I feel like it is not the place for a kid like Hudson.
My safety zone is Children's...that is where he belongs...
but for a cough I hate to drive an hour to the ER...
so I made an appointment this evening for Hudson to get checked out
by our pediactrician.
I am sure the apt. will look like I am the doctor...
regardless if he checks perfectly fine and "just a cough"
I will insist on putting him on a 2-14 day doses of Augmentin...
Hudson always requires an extra script on this.
I have all the info from our hospital stay in October and will insist on the same treatment.

The unfortunate part is I still dont know what is going on internally which still could land us in the hospital if he continues to spiral...
but for now I am doing everything I can to avoid that...

.....wish me luck!