LET THE HOLIDAYS BEGIN!

HAPPY HALLOWEEN!

It is officially the start of the holiday season. My kids are pumped for today. Last night we carved our pumpkins, Hudson even got to touch pumpkin goo, he wasn't too sure about the slimy texture.
Here are our pics from last nights pumpkin carving....

 

Doing the happy dance...for several reasons

Another week down...another month down...I am exhausted, stressed, but very happy to say it is still October and ........... 


HUDSON GOT HIS STROLLER!!!!!

I seriously thought the day was never going to come, but thanks to one of Hudson's wonderful O.T.'s and her willingness to spend 21/2 hours of her time at the pharmacy (totally unplanned) with me and the tech guy who made all the adjustments, I walked away with Hudson and his stroller last night! It was a glorious feeling to see him sitting so tall, and regal in HIS new rig. I promised pics so I won't jabber on about how excited or great he looked, because I think the pictures are worth more than any blabbing I can do......

This is our BEFORE picture...he had only been in his clunker for about 10 minutes so he doesn't looks as bad as he usually does after squirming around in discomfort. Note the "flaps" behind his head...no this is not a flying stroller with wings...that is his broken canopy...lovely, huh? Lovely posture too...my poor kid...oh, and as far as the "outfit"....did I mention this was unplanned? My appointment was actually this afternoon, and when the pharmacy tech guy asked if we could be there in 10 minutes, there was no time for clothes....which is why he is mismatched and in P.J.'s and moccasins....I actually just noticed his clothes as I was posting these and figured I better explain so those of you who don't know me, don't think this is how I typically dress my kids! :)



AFTER........HIS NEW SET OF WHEELS.....

  

 What do you think? 
I love big brother taking the new car for a test drive...pretty cute!
I typically won't use the tray I don't think except for longer outings or maybe at a restaurant or something, but I am so happy to have this for Hudson. It is kind of like a buggy. The canopy also comes forward and completely encloses him in a dome, it kind of reminded me of the bubble boy. It is cool though because it is great protection from wind and rain, which is what I wanted.
Happy, happy, happy dance! 
Another moment of joy this week came on Monday.....when I took all three kids to the dentist for cleanings and check-ups. I was one super proud mommy....they all were so good, listened, sat still, let the techs do there job...and they all got a high 5 for no cavities or problems, and good brushing! I did a mini chair dance as I was holding Hudson and as she peeked in his mouth and brushed and felt around, she said his teeth look really good and healthy. There are not many "good" reports and healthy isn't a word that gets attached to Hudson very often. When it comes to Hudson........ I certainly have little to no control over much of his circumstances...but, the one thing I do daily, and have control over, is teeth brushing...so at least I know I am not failing him there...you know, it's the little things I have to celebrate...like a healthy mouth. She did say his gums were a little swollen but felt that is due to the anti-seizure drugs. 
More moments to be happy.................Our oldest son had a Harvest lunch at his school. The 2nd grade students did several bible verses by memory and several worship songs. They had carved pumpkins on all the tables with mums they had planted for us parents to take home. The best part of all was that Paul got to be there with me and Hunter, which was special. Paul's ofice is an hour commute from home (more with lovely Seattle traffic) so many times I fly solo to these daytime events. I did get the date to him early enough and so he was able to work locally that day. We got to eat lunch together which was soups, chili, cornbread, cheese and crackers and lots of pies!

 

That same day as the Harvest Lunch, Hailey had her first Kindergarten field trip to our local pumpkin patch. I had volunteered to be a driver and Hailey was so surprised when we pulled up and she got out of the car and saw her daddy...she ran and gave the biggest hug...I wish I had got a picture of that...super sweet moment!

 

Are All Meds the Same?

I just wonder....because they sure don't look the same...and I am not talking about the casing, I am talking the med inside the capsule!

I decided since I pay no co-pay at Children's I should try and get all Hudson's drugs there, as inconveneinet as it is sometimes(45min-1 hour drive), because when your child is on a 2-3 page med list, all those co-pays add up fast, not to mention the ones that are not scripted and I purchase online and in vitamin stores. Up until now I have only gotten the meds that had large co-pays, or that could not be filled at my local pharmacy.

Friday I picked up Hudson's 100mg capsules of Zonisamide, and 25mg capsules (he gets 225 mg at night)
I have noticed when I open the capsules and prepare to syringe them, the powdery substance is completely different than what he has been getting at our local pharmacy. This powder is more dense, the other was more powdery!
Then I noticed yesterday and today that his seizures are less intense, and not holding as long.........
because for a while there they were getting more intense and a few seconds longer!
Of course it could be the increase in Depakote we did 2 weeks ago, with a medically complex kid it is always a guessing game....BUT.... I can't help but wonder....why 2 drugs labeled the same and the same mg, appear so different? What if this is a purer form? Being that it is from Children's I want to believe that it may be.
What about all the other drugs we have tried and failed, could there be a "better" form out there and we gave up with out knowing or trying?  Because you just take what you are given.....at the pharmacy.

Can't help but wonder!

I guess I have this skepticism when it comes to drugs...of any form. Which is why I am so skeptical of the fact that Children's Hospital...A REGIONAL MEDICAL FACILITY....says that at this time they can only vaccinate their patients and not entire families because the state of WA does not have adequate supply......
yet you go to the local  grocery store and there are banners posted  to come and get your flu shot! 
 Not sure what it is they are shooting, but if  a regional children's hospital can't provide me with it at this time, I certainly don't want the grocery stores flu shot special!

This is why I wonder if all meds really are the same!?!

Medical Mumbo Jumbo....Calling all Braniacs!!!

I guess by now, those who read my blog, may realize it is all or nothing with me. I have 3 kids, rarely do I find enough time in the day to spend enough time to sit at my computer and go through emails, shop,research, follow other blogs, and blog myself...can't do it all...BUT...Hudson is bathed, and all three kids are in my bed watching Disney channel and Paul is catching up on Mad Men (?) I don't watch it, so I figured it is a good time to whip out a second posting which is not as fun as the last, but important.

I am trying to understand this disease that is called Mitochondrial Disease...I am trying to understand Hudson's mito disease...I am thinking it is time to give up...my brain just can't wrap around and comprehend most of what I am told when it comes to Hudson. I have been trying to piece emails together, reading them, over and over again to see if I  can gain a better understanding, if I just pound it into my head maybe I will understand!?!?...HELP!

The one thing I like, is that every time Hudson sees his Neurologist, we recieve a copy of his clinic notes in the mail after our visit. Thing is, it seems there is always something in his notes that raise questions for me, and I am lucky enough to have access to him via email, so I can ask him my questions direct.

So, I will piece these together and maybe someone out there will get it.  I will try to explain chain of events so I do not confuse you more than I am confused. Here goes...

This email is from me back in January '09, shooting my questions at him...

I was reading the clinic notes and you stated Hudson has decreased amounts of the marker enzyme citrate synthase, which would suggest a posibilty of a depletion syndrome. What exactly does this mean? What is a depletion syndrome?

I know there is a wide spectrum of Mitochondrial disease, and am wondering where Hudson falls in this spectrum? Is the type he has a more common or typical form? Is it unique? What do we know about the specific type of mito disease Hudson has?

nuero response;

Hudson has an electron transport chain defect, meaning that when we assay the mitochondria functioning (to make energy or ATP), we found that several of the parts of this electron transport chain had low activities (how well they function). Many patients just have a single complex (there are 5 complexes in total) that is dysfunctional; some have multiple (like Hudson). Hudson had significant decreases in complex I/III, II/III, III, and IV. So multiple complexes are significantly low. The citrate synthase is what we call a marker enzyme. This means that all individual mitochondria have about the same level or activity of this enzyme. So, in theory, the more citrate synthase activity the more mitochondria should be present. The reverse holds true as well. In those children that we have tested for depletion syndromes (this means that there are less than normal mitochondrial numbers present), we have found many have low citrate synthase activity.

As far as I know, there are no mitochondrial depletion syndromes that have been published that involve infantile spasms or intractable seizures that begin during the first year of live, with the exception of Alpers syndrome. Hudson does not have Alpers syndrome (this involves catastrophic focal seizures and liver failure). Hudson is not my only patient who would fit the picture of catastrophic seizures and what looks like depletion syndrome but not having Alpers.

This last week I got a copy of the clinic notes from our last visit. Some key points, bits and pieces, from his notes...

REASON FOR VISIT: Ongoing care for Mitochondrial Cytopathy and intractable epilepsy

(I get intractable epilepsy...that's the easy part! His mito is labeled cytopathy...researching this!)

HISTORY OF PRESENT ILLNESS (his comments from viewing the seizure on video):

"Mother brought a video of his seizures and Hudson stiffens his bodyfor approximately 2-3 seconds and subsequently eyes becoming tonic in an upward position. These lasted approximately less than 1 minute apart."

ASSESSMENT AND PLAN(this is where my question were raised):" In summary, Hudson is a 2 year old young boy with a history of epiletic spasms in the context of a mitochondrial cytopathy. Hudson has deficiencies within electron transport chain within complexes I/III, II/III, III, and IV. In addition, there is decrease in the marker enzyme citrate synthase of approximately 40% of normal values. We sent off for depletion testing. Hudson's muscle biopsy did not demonstrate mtDNA depletion. In fact, his mitochondrial DNA copy was 150% of normal values for age, suggesting that his deficiency does not include the depletion enzymes."

and so I emailed him...

I received a copy of your clinic notes today, and after reading it over, I have a question and was hoping you could explain in most simple terms?

Under Assessment and Plan you state ...

"we sent for depletion testing. Hudson's muscle biopsy did not demonstrate mtDNA depletion. In fact, his mitochondrial DNA copy number was 150% of normal values for age, suggesting that his deficiency does not include depletion enzymes."

What exactly does that mean? When we had our clinic visit and I asked you what type of Mito disease, you said enzyme depletion in complex I,III,IV...does this contradict the above?  I am very confused.

I remember you telling me earlier in the year that you sent left over muscle for further testing, I am assuming that is what the above is referencing to?

On another note, I talked to Pam this week and we started talking swine flu and I told her I thought you told me Hudson does not need that vaccine only the regular flu shot vaccine. She said Hudson MUST get the regular flu shot and the swine flu vaccine (not nasal mist form) when it is available. So I need clarification on that as well, just to be sure. He has had 1 of 2 regular flu shots, and I will get the 2nd next month.

If Hudson does need to get the swine flu vaccine does that mean all member of his family as well? I was planning on doing the regular flu shot for his siblings and Paul and I, but am not too comfortable with the swine flu. Please let me know how this should be handled.

Neuro Response....

Hudson has complex I, III. and IV defects in enzyme activity, not depletion. The depletions assay looks at mitochondrial DNA copy number (how much DNA is in each mitochondria). Austin has more than enough mitochondrial DNA. Yes, this is what we sent the extra muscle for further testing (mitochondrial DNA depletion or copy number).

Hudson needs a flu shot and I suggest he get the swine flu shot(s). If he gets the swine flu, it could be very bad for his health. However, I only recommend things so do what your heart is telling you to do. It would be more likely that Hudson would get the flu or swine flu from someone else, the more exposure to others the more likely. It would be good prevention if other members of the family do not get either the flu or swine flu. If this means getting the vaccines, then I recommend this to be done.

So....is it just me, and my flaky, mommy-weary brain....I still don't get it....and those are his simple terms...I feel stupid...I can't understand this, I never was good at science, biology...wish now I was or I had paid better attention. My last email to him was just to tell me if this last bit of info, the "no depletion enzyme" part, I just want to know if this is good news..because in this disease, there really in no GOOD news. I have yet to hear back.

I was also less than thrilled to see he copied the mito nurse on my email, because now I know I stepped on her toes by asking about the flu. I am a little uncertain what will be done with that as well. I will most likely get both shots for Hudson, but I am still not comfortable with the swine one for Hunter and Hailey. I guess I need to pray about this and take it from there. (Heidi...to answer your question...you can request the swine flu shot without the thernerisol, otherwise I believe you will get the preservative if you don't speak up. That is what Pam told me!)

I do want to mention that I love our neuro, as confused as he makes me with his medical talk, I am blessed to have Hudson in his care. How many doctors allow patients to email them? He is very caring and dedicated to his kids, I just wish I had the capacity to understand this complex disease.

So there you have it...the latest and greatest on the medical mumbo jumbo....I give up trying to understand....at least for tonight!