Hope for Life

The silence here at night is deafening. Once in awhile a child screams out in pain and I am numb to it. There was a time I would have cringed at that sound, my heart would have ached for them. Not now. Now I think 'thank god that child has the strength to scream, the energy is there, they are alive.' Alive...not well, but alive. I took too much for granted, now I need hope for life. Stay strong little man...you are my hero.

Tuesday, December 21, 2010

They're home!

Krystal and Ayzac arrived home on Sunday night. So far, so good; it's all about keeping him on schedule while trying to organize all the new gear he comes with, his supplies and meds etc while also tending to the other toddlers and an attempt at getting Xmas going! Krystal barely has time to catch her breath! She will update when she has time but for now, you are stuck with gramma's lame update! :D

-Lorna

PS: New Article in the Free Press.

Sunday, December 5, 2010

Bahumbug!

It certainly doesn't feel like Christmas is only 19 days away. I'm not home, so no tree...no decorations...no singing Christmas songs together while we bake holiday cookies for Santa. I'm totally bumed out but I am trying to stay hopeful that we will get out of here soon. I really, REALLY, want to be home to see Kazzdon's first Kindergarten Christmas concert on the 15th. There are not many things cuter than a bunch of 5 year old kids singing jingle bells out of sync! He sang 'Oh Christmas tree' to me on the phone. I got "Oh chrisis tree, Oh Chrisis tree, how big your green fat brancheeeees!" I'm pretty sure those are not the lyrics Mrs. Dickson has taught him, but so cute! I told the doctors about it and they are going to try to have us discharged by the end of this week, but I have been told we might get discharged many times now and I know better than to get my hopes too high. It's a long fall when things change and we wind up staying. I have already decided where to set up a Charlie Brown tree and hang stockings in the hospital room just in case.

The plan as far as I know is to stabilize his electrolytes (Sodium and Potassium) the best they can with a treatment that is easy for me to do at home. That is the only thing still keeping us here because everything else has been looking better so far (knock on wood). They tried him on a new medication last week called hydroclorothiazide (thiazide for short) to try and replace his fludrocortisone, sodium chloride, amlodipine and kayexalate. It didn't work unfortunately. His potassium went through the roof along with his blood pressure. This is partially due to a staff error too. The doc discontinued lactate from the blood work and somehow a nurse read it as kayexalate (??), so he was off of kayexalate before he was supposed to be. Now he's being weened off of the thiazide and put back on everything he was on to begin with. Another week wasted on experiments. The test results from his muscle biopsy and blood that was sent for special testing should take about two months. Hopefully we will have a clearer picture of what's wrong with him sometime in February.

Last week we had a few clinic appointments and a couple of very busy days. The BC Lions (football team) were here and we missed it. I think I was more disappointed than he was though, obviously. I don't think Ayzac is a sports fan yet but I was hoping to get some pictures taken with big muscly men holding little man wearing his football sockies GGma got him. A little eye candy for mom never hurt anyone either! On friday I got to learn how to do his Subcutaneous (Sub-Q) injection and starting Monday I have to do them by myself three times a week. Its a shot of Erythropoetin (Epoetin or Epo for short) that he gets in his thigh. It's a hormone booster for the bone marrow to encourage red blood cell growth. It seems to be working well for him as his hemoglobin has come up from 61 to 79 in just a week and a half of treatment.

This week the nurses are going to review everything for discharge with me again. They are even going to get pharmacy to send up all of his meds in vials so I can start to draw them up myself. Usually pharmacy sends the suspension meds up pre-measured and I only deal with the pills but I want to start doing it all before we go. It already takes about 20 minutes to get his meds ready so this is going to be quite a process. I am going to learn how to use a portable pump for feeds as well. I will need one for home just in case Ayzac decides not to eat or he goes exorcist on me. He has to have a certain amount of formula everyday and he can't miss feeds.

The nurses had to change the needle in his VAD today. It has to be changed every 10 days if he remains accessed. I was a really surprised when they pulled out the needle! It's an inch long and fairly thick. For some reason I pictured it being much smaller than that. It looks monstrous going into his tiny little chest. I felt like he was being stabbed with a flagpole and despite all rationality telling me how necessary it all was I stood there imagining myself drop kicking the nurses like something out of a Jackie Chan movie. They didn't use Emla cream on him either the poor little guy. The nurse told me they don't usually use Emla on babies because they cry anyways and it's over quickly, but after I saw the size of the needle I will never let them do it without Emla ever again! It just seems cruel to cause him pain if he can be numbed! Then at least I know he's only screaming because he doesn't like to be pinned down. I'm also going to ask if I can use Emla cream on his leg before I do the Sub-Q injections. I don't see why not?

On Tuesday I should find out if we are approved for the 'At Home Program' and on Wednesday Ayzac has an Ophthalmology appointment to make sure he can see properly. Ahhh the Ophthalmology clinic...sitting in that waiting room is worse than watching an episode of jeopardy. It's dull and boring and takes hours to get in. Last Wednesday we sat in there for two hours just to get told we had to go back because Ayzac was sleeping. "I'll take 'Things more painful than death' for $1000 Alex." Answer: "What is...waiting in Ophthalmology clinics?" Ding ding ding!!! Correct! She gets the daily double!! Well, hopefully if it all goes well we will have a discharge order for Friday or the following Monday. I will keep you all posted ;)


For a few of you who were wondering what all of Ayzac's symptoms and medications are here you go.

Symptoms:
Lactic Acidosis.
Brain damage (to the white brain matter specifically).
Epilepsy.
Heart damage (thickening of the left ventricle).
High blood pressure.
Severe to profound hearing loss.
Visual disturbance.
Developmental delay.
Kidney dysfunction (causes his electrolyte imbalances and frequent urine output).
Adrenal dysfunction (causes his hormone imbalances).
Muscle weakness.
Severe anemia (low hemoglobin/red blood cell production).
Several vitamin deficiencies. (causes hair loss, peeling skin, etc...)
Severe metabolic deficiencies. (causes sugar intolerance and the need for a high fat diet etc...)
Heat and cold intolerance.
Autonomic dysfunction. (causes profuse sweating, mottling of the skin and inability to respond appropriately to stress in the body).
Respiratory distress ( hyperventilation).
Reflux disorder.
Chronic thrush.

Medications:
Clobazam (anti-epileptic )
Ranitidine (reflux disorder)
Amlodipine (blood pressure)
Dicloroacetic Acid (lactate)
Fludrocortisone (electrolytes)
Sodium Bicarbonate (electrolytes)
Sodium chloride (electrolytes)
Sodium polystyrene/Kayexalate (electrolytes)
Epoetin Injection (hormones)
Acetaminophen (pain control)
Ibuprofen (pain control)

Vitamin therapy:
Riboflavin
Vitamin E
Levocarnitine
Ascorbic Acid
Biotin
Folic acid
Ferrous Fumarate
Coenzyme Q10

And through all of this he smiles everyday! :)

Friday, December 3, 2010

We're on TV!! (Sorta)

Help Portrait BC was at the hospital. Ayzac and I are right after Elaine and Kade, at 1:43 into the video. It was a good day!

Thursday, November 25, 2010

Extra! Extra! Read all about it!!!

So I will start with last week since I haven't been able to post lately. The only major thing that happened last week is that Ayzac had his first few major seizures. The unmistakable kind. He completely passed out on me then would twitch and wake up then he'd want to sleep all day. Neurology finally took things a little more seriously and started him on Clobazam. This is an anti-epileptic medication used to control seizures.After about 4 days on this medication I started to see a huge difference in him! He has started to smile and try to coo. His eyes are not deviating or going crossed as often and he has started to try and hold his head up! He's like a whole different baby! Physio is working with him daily to help strengthen his body and he loves to be in the tumble form. Its like a foamy car seat but it is made to support the body so he only has to focus on head and neck control. He will stay on an anti-epileptic medication for the rest of his life now but as long as it works I'm happy.


On Wednesday morning around 1am Ayzac started his prep for surgery. He went NPO (which means no food) and was hooked up to IV lipids and TPN. He was miserable all night and I stayed up bum patting and crying with him while we both suffered from lack of sleep and hunger. He went in to the OR at around 10:30am. The orthopedic surgeon was done the muscle biopsy in about 30 minutes. It went well and they managed to get all the muscle needed to do a variety of testing. They took a 2" by 2" chunk out of his right upper thigh. The incision is about 2 inches long but the scar will get bigger and bigger as he gets older because of how the muscle will need to regrow. The VAD was supposed to take 45 minutes to an hour but I guess they had some trouble with the machines so he was not out of surgery until about 2:30. I sat in the waiting room like I was told until 4:00pm freaking out until a nurse finally came to tell me he was transfered to ICU an hour earlier. So it was a long 5.5 hours for me worrying and staring at the wall. I went over to ICU and had a bit of a reunion with some of the staff that remembered Ayzac from 2 months ago when he was really sick.

He did great and his blood work still looks great this morning! We joked that all he needs to control his lactate is a little surgery! It was 1.7 post-op and 2.2 this morning. That is the best it has been in 2 months! Everyone was very well prepared for the worst, they even put an IV in his hand as back-up. The only scary part of the day was when they pulled the IV out of his hand. I was holding him, swaddled in a massive hospital blanket, and reached around him to feel wetness. I looked at my hand and it was soaked with blood. It was a very good IV placement apparently because it bled profusely! I yelled, "Oh no! His hemoglobin is 64, he doesn't have blood to lose! Put it back! Put it back!" Other than that he was vomiting from the anesthesia and his throat was hoarse from being intubated: so we fed him through the NG tube by pump all night to be safe. He had his PICC removed this morning and I think I might keep it as a souvenir since he lived with it for a long time and it helped save his veins. No one expected him to do so amazing but he tends to surprise me everyday whether good or bad. It's just how he rolls!

So the plan starting Monday is to change around some of his medications. The doctors are going to test some hypothesis they have about his kidney and adrenal function. This could and hopefully go really well for him, it could also be a major setback that would put our return home until after Christmas. All I can do is wait and hope and pray that Ayzac decides to stick with the pleasant surprises!

Tuesday, November 16, 2010

My new life....

Still just adjusting I guess. I thought we were going home but obviously we are still here. This is just the way it's going to be. When we do get to go home it will only be for a short while and we will be back so I am learning to get used to it. I really miss my kids...the crappy weather is rolling in and it's going to be harder to travel for them to come visit. I see my house is getting renovated in order for Ayzac to go home...hard to watch from a distance being the ridiculous control freak that I am but I am very grateful!

I am starting to panic a little about all the expenses involved in caring for little man when we get home. His vitamin therapy is not covered by anyone. We are going to apply for a grant through Variety Club to help pay for them for a bit so I'm crossing my fingers. We (and by we I mean my social worker and myself) are applying to a couple of different charities to help cover expenses...the scale I need for his food and meds alone is 500 to 1000 bucks. Yeesh. If you heard a funny sound that was my butt clenching. Cross your fingers everyone that we get approved for something. There really isn't a lot of support through charities for kids like Ayzac...funding is really geared towards cancer and other common diseases that people have actually heard of...they get all sorts of cool stuff! In the entire hospital everyone has to pay 11 bucks a day for cable, Balding for dollars pays the cable for the whole oncology ward! Time to spread some awareness everyone!!! I think it's great that they get what they do but it makes me mad that all of the children and their families aren't treated equally.

Ayzac has had a rough week or so. All of his blood work looks okay but he has been acting funny. We think he might be having absent seizures. These are just as dangerous as convulsing types of seizures but they present in a different way. He goes still and just blanks out completely for a few seconds or more. It's creepy really. Other than that he hasn't been eating well and we are giving him a lot of formula through his tube. He throws up a few times a day and gets especially cranky, which is unusual for him. He is usually super calm and alert, a very happy boy most days considering...

This week he is getting a VAD (Vascular Access Device) and the PICC line will be removed. This is for long term use and Ayzac will have it permanently. It is similar to the PICC, the VAD is a little top hat looking button thing that gets inserted under his skin above the muscle just under the collar bone on the right side. It has a catheter attached on the inside that leads into a major vein towards the heart. When he needs blood work or IV or medication they can put a needle through the skin into this button and it is direct access to the veins.
Ayzac will also be getting a muscle biopsy at the same time. For Mitochondrial testing they need to try and test the affected tissue. Since they cannot just biopsy the brain or kidneys they are hoping the muscle is affected enough to give them some answers. We know his muscle is affected some because he is Atonic, this means his muscles are weak and develop poorly. That is why Ayzac cannot hold his own head up very well or roll over like most babies can do well by this age.

I had to learn a lot last week about his diet. Ayzac is on what is called a Ketogenic diet. All of his food has to be a 1 to 1 ratio of fat to everything else. It actually surprised me how tricky this is going to be. There is a calculator on-line that gives me tools to create specialized recipes and have them verified with the dietitian and nutritionist here. Its called a Ketocalculator. I have to mix his cereals and baby foods (and all foods after that) with a certain amount of fat to meet his ratio requirements. So instead of making rice cereal with formula or breast milk or water like you normally would, I have to mix it with just the right amounts of fatty foods like heavy whipping cream or butter and things like that. I have to use this calculator on-line to make sure my 'recipes' have the right amount of fat, calories, protein and carbs while maintaining a 1 to 1 ratio! It's A LOT to learn and this on-line calculator is going to be my food bible for Ayzac! If I ate like he has to eat I'd look like the Michelin man! But this is what his body needs to survive. It's crazy!

So it will be an interesting week. I am praying that everything goes smoothly and we might be able to go home for Christmas! Well that's all the new news I really have. I wish I had more. Another night on my cot...another night at BCCH. This is now our second home. We will be what they call 'lifers' here. Next time I am going to bring a throw rug and some wall hangings...lol!

Monday, November 1, 2010

What now?

So the doc's told me they are trying to POSSIBLY get us discharged by the end of this week or early next week. Now before you run out and buy welcome home banners, cake and balloons you should know that I'm actually not excited about this. In fact it scares the crap out of me. I guess some part of me was under some delusion that we would go home when Ayzac would have perfect blood levels, be fat and pink and I really wouldn't have to worry about much till we come back. So not the case.

Just today Ayzac's potassium shot up to 6.8 (normal: 3.5-5.5), his hemoglobin dropped to 74 (95-135), his PH is 7.0 (7.35-7.45) and his lactate shot to 17.6 (0.5-2.2) among other things that went out of wack for no apparent reason. Some of these results can cause very serious problems if they are even 0.05 out of range. So today he got put on a bolus dose of IV fluids and had an ecg and a Kayexelate invasion where the sun doesn't shine.

So here's the scary part. Doctor's have changed NOTHING in the last few days. So you then ask "Why is his system so unstable when they have him on treatments?" Well I'm glad you asked. The doctors don't have a  CLUE whats causing these symptoms to disappear and reappear with no warning signs. They said, and I quote "We are naive to think we are the ones keeping him stable simply by treating things for which we don't know the underlying cause."

So basically it boils down to this. He has a handful of life threatening symptoms which can also cause all sorts of organ dysfunction or failure (not to mention deafness is already crossed off the list) and there is nothing more that can be done for him here. Everything they are doing can be continued at home and we get to sit around and cross our fingers that he makes it long enough for some sort of answers or diagnosis. I'm sorry but I just can't get excited about that. But what other choice is there? Sit in a hospital forever or make do with what we are given. If anyone wants to help us out, now is the time. We are going to need tons of underwear and laundry soap while we sit around crapping our drawers for the next few months! And yes...we will be back here in roughly 3 months. We could be back earlier, this of course depends on several things...if he needs emergency critical care again, if his dietary needs change dramatically or if they get good test results or need to continue with different tests altogether. He may have a muscle biopsy and a lumbar puncture in his near future.

So this week I get to practice inserting the NG, run through medications again, run through the formula prep again, talk to medical distributors and cry while I watch the bank account drain when I go to buy the massive list of supplies we need.......AAAHHHHHHH!!!!! See, just crapped my pants in one post....gonna go change now.

Saturday, October 30, 2010

Anger is a part of grieving.....

(I edited this post at 10:08pm.)

I'm really starting to get pissed off at the world. I'm tired of hearing it. I can't believe how blind people are to the good in their lives. Maybe I was like that before all of this started but wow has my perspective changed. I don't mean to be rude or make anyone feel bad but why is everyone crying except me? I would give anything to have trivial problems.

I just can't stand listening to or reading about people complaining about the small stuff. On the flip side I also can't stand listening to people boast about the good stuff either. To be honest, I would prefer to hear good news and at the same time it just chaps my kakhi's that I'm getting dealt so much crap and I don't feel like I deserve it. I wish everyone for one moment could see through my eyes and feel what I feel...

I'm getting to a point where I just can't take much anymore. Here is something to remember...I've held my dying child in my arms. Nothing is worse unless I had lost him...which I still might!!! So be thankful for your crap and remember that thousands of people in similar positions as mine would give ANYTHING to have your crap. And when things are going great in your life, don't take one moment for granted....


PS: This post wasn't written with anyone specific in mind, just venting. For anyone who takes this personally...keep reading it until you get the point. To all my friends and family, thank you for loving me no matter what.

Thursday, October 28, 2010

I eat doctors for lunch...

Don't get me wrong...95% of my nurses rock my socks. But let's face it, my kid is sick, I need 100% all of the time. Period. When you first arrive at a place like this the nursing staff gives you a lot of "fluff". They sugar coat everything, tell you 'you are the most important person in your child's care, if you see a problem, tell us'. They make sure you have everything you need and they know DAMN WELL you are feeling confused, upset and vulnerable. The doctors "dumb down" and explain everything in baby terms for you to understand, they tell you the minimum amount of information possible as to not "overwhelm" you.

After a couple of weeks you really start to see how things REALLY work...if you pay attention. Day in and day out you notice the nurses giving all the new admissions the same textbook "schpeal"  you got. Really they don't seem to give a crap if you see changes in your child...they are the "trained professionals" therefore if they do not think something is wrong, it simply isn't. You notice the doctors don't get messages you wanted relayed to them. Notes about care for your child do not actually get written in the care plan if they don't come from a nurse or doctor. Doctors don't want suggestions because you are merely a parent with the knowledge of a maggot compared to their textbook training and ALL MIGHTY BRAIN POWER!!!!!!

Well...anyone who knows me, knows I don't take crap no matter who you are or what you do. I personally don't like being treated like a dumb person, I don't like half of the story or half of the truth, and I especially don't like FALSE promises. I don't appreciate having my 'mother' stripped from me on the basis of rank. Did you know that if you get a nursing degree you can change diapers better and faster with no actual child rearing experience? WOW!

WEEK 6: Lets just say I have been very persistent. I ask a TON of questions. I corner my doctors in my room like a scene from 'Misery' and I don't let them leave until I feel like I have ALL of the details. I make suggestions about what I think is best for my son and I take it straight to the attending physician and skip the nurses. I take that bright red pen on the care index and write down important information MYSELF. (For example: "PLEASE do not put Ayzac's Nystatin, which is for ORAL THRUSH, through his NG tube as this defeats the purpose of the medication entirely" and better yet "PLEASE do not give Ayzac his Amlodapene, which decreases his blood pressure, BEFORE taking the blood pressure!!! You will get a false blood pressure reading!!!!)

Okay...breathe...relax. My Metabolic doctor came in for rounds today. I spoke with him about many of my pet peeves and concerns about how we are being treated. Now I get full say about everything. I get to do the med's, the formula mixing, the blood pressure...anything I want. YAY! And doesn't that make sense since I will have to do all of this at home anyway??

Wednesday, October 20, 2010

Hospitals are full of pricks...

So I got some new information from one of my metabolic doctors (there are 7 in total, I have met 5). Here's the deal, some doctors don't really like to tell you anything until they can prove it beyond a shadow of a doubt. Other doc's will tell you things that "may" be a problem and try to prepare you for things ahead of time "just in case". I'm an "expect the worst, hope for the best" kinda gal so I cornered one of the "what if" doc's and asked some questions about things I still wasn't very clear on. There have been a few issues regarding communication and there are a couple of things that I felt the doctors weren't taking as seriously as I was.

First on my hit list were questions concerning the "episodes" Ayzac has been having since this whole thing started. If not for these episodes we would not have taken him to the hospital. Also, one of these episodes was so severe it almost killed him and landed Ayzac in the ICU on life support. For those of you who don't know what I'm talking about I'll explain.

In a matter of minutes Ayzac goes from seemingly fine to screaming in pain inconsolably. During this screaming fit (of which we never know the cause) he starts to sweat profusely, turn a lovely shade of red and get a mottled appearance on his skin from head to toe. Like a leopard. Suddenly his screaming will turn into a sort of panting, moaning sound. It's as if he is too tired to cry and all of the energy is sucked out of his body. He goes cold and clammy, his skin goes pale-gray and his eyes lose all of the life in them. He gets a vacant glazed stare. His body goes limp, his tongue curls up and pulls back a bit and his breathing becomes slower and slower until you can tell his little body is fighting to breathe. When we were in ICU the doctors had no idea of what was going on. All they knew for certain was that whatever was happening, his body was giving up the fight. They suggested life support as a last ditch effort to save him. We were told he would probably not survive the procedure and that we might have 5 or 10 minutes left with him alive. Miracles happen...and we had one that night.

Ayzac since has had four similar episodes, the only difference being that he seems to snap out of it and recover quickly. You would have to be crazy not to think this is serious each time it happens! The doctors have continued to suggest that it is a type of seizure and that they are not concerned at this time. I finally got fed up and demanded this issue get some attention. The doctor has a theory, but it has not been looked into or confirmed. She thinks possibly he has a defect of some kind with his Autonomic Response System (ARS). The ARS is the system in our body that controls all of our unconscious actions. Things we have no control over like our heart beating, breathing, and sweating for example. It is also what triggers our "flight or fight" response and manipulates the body to adapt appropriately to stress. She thinks maybe his ARS doesn't respond properly to stress in his body. So instead of encouraging his body to fight by increasing his heart rate and his breathing etc...it instead just shuts down and doesn't respond at all.
 I think this is a far more likely possibility than just seizures. It definitely seems to me like whenever his lactate gets higher, or other problems arise in his body, he has one of these episodes. She said she was going to press the issue further with the metabolics team and see if they can come up with a plan to figure it all out. Again, these things take time and money and we will just have to wait and see. In the meantime, if it is a dysfunction of the ARS and it goes untreated, he could potentially have an episode that could be fatal.

The other thing I have become increasingly concerned with is his eyes. Ayzac has always gone cross eyed quite a bit. This is usually a normal baby behavior that they grow out of. At first I thought "no big deal". He is a little behind in other aspects as well. He cannot hold his head up yet, he makes no attempt to roll over, he is very small for his age (even smaller than Kazzdon was) and he sleeps about 80% of the time like a newborn. I just thought it might be because he was born a little early and needed time to catch up. All of the doctors I mentioned these things to didn't seem to think it was a big deal and didn't tell me there was any reason to be concerned. In the last week or so I have begun to notice he is going cross eyed most of the time and having some difficulty focusing on objects. Also, at times he will be looking at you then only one eye will look either in or out the other way! So I'm thinking "okay this isn't normal, now my kids got crazy eyes, something is messed up here". Again I pressed the issue and asked the doc if there was anything going on that could be causing this. Sure enough, I hear for the first time ever that Ayzac has got some brain abnormalities. Apparently he has got some damage to the white brain matter. White matter controls electrical impulses and these impulses carry messages to and from the brain. Thus affecting things like eye movement, muscle control, and hearing. Voila! Explains a lot...thanks a bunch people.

I also heard for the first time that Ayzac has definitely got Kidney problems. Nephrology (the kidney guys) are in the process of figuring it out exactly. He also has hormone deficiencies of some sort. Endocrinology (the hormone gland guys) are trying to figure that out.

So that's about it. They have ruled everything else out now (as far as any other possible causes for Ayzac's symptoms) and can apply for the funding to pursue the testing required to diagnose his Mitochondrial disease. This begins tomorrow and we aren't getting out of here until he is fully diagnosed. I have been warned that this testing can take months but sometimes things pop up on tests right away. Another wait and see scenario to add to my ever growing list of "we don't knows". I will keep you posted!

Tuesday, October 19, 2010

The Waiting Game...

The worst part of all of this (besides the disease itself) is the waiting. Hands down. Ayzac has a rare combination of problems right now that is making it harder than usual for doctors to diagnose him. The doctors have told us they cannot find another case in medical studies of an infant with these problems combined. Furthermore what is baffling them is how he is presenting these problems. They are not sure if he has three separate issues or if it's all part of a bigger picture. They are hoping for the latter, thus less treatment required.

#1. Lactic Acidosis. This is a severe disorder caused by an increase of acid in the blood much like the lactic acid we create when we exercise. This is a common attribute of mitochondrial disease. It makes Ayzac's muscles (not just arms and legs but keeping in mind the tongue, heart and eyes among others) very tired. The increase in acid can cause brain problems such as dementia and retardation, heart problems including but not limited to heart failure, stroke like seizures and shock, and problems with the reflexes needed to eat and swallow properly to name a few. Ayzac's acidosis is very unique in that it increases incredibly fast and also recovers quickly as well. Usually this takes days but Ayzac's levels have gone from 0.9 to 17.0 back to 3.3 in the span of 8 hours. (Normal lactate is between 0.5-2.2) Some of the family have witnessed what a high lactate does to Ayzac.

On Saturday the 25th to Sunday the 26th of September Ayzac struggled to survive due to an acid level of 37 which caused him to have a severe 'episode' where his body started to give up. Doctors put him on life support including intubation to take over his breathing and dialysis to take over his kidney function. Against all odds he survived and is still recovering. Usually a metabolic cocktail of the right diet and nutrients will help prevent acidosis but Ayzac likes to be special so this is not helping in his case.

 #2. Hormone deficiency. A mystery symptom or separate problem? Ayzac has very high potassium and very low sodium. High potassium can cause heart failure and low sodium can cause severe dehydration. There are a few different hormones that regulate sodium and potassium that are produced by the adrenal glands. His adrenal function seems to be fine so the doctors are confused by what is causing this. They give him extra salt in his diet and they give him hydro cortisol to lower his potassium. The hydro cortisol causes high blood pressure so he is also on meds for that. His levels have stabilized the last couple of days but they still need to get to the root of the problem.

#3. Hemoglobin (Red blood cells). Doctors don't know much about this either. For some reason his red blood cells die off and his body doesn't like to make new ones. When this happens his hemoglobin drops and if it goes too low he needs a transfusion. He has tested borderline positive for hereditary spherocytosis (where the blood cells are round instead of oval and therefore pop and breakdown easily), but since mine and Zach's blood results did not show a full positive result (nor did grandmas) they have ruled this out for now. They are currently doing tests for other things that could cause this and we might get results for that by Thursday.


So far Ayzac has had extensive blood work (and by extensive I mean an absolutely ridiculous amount, so much so that all his veins in both arms collapsed and his feet look like pincushions) for gene testing, hormone imbalances, hemoglobin deficiencies, organ function, cellular abnormalities and more.He has had three blood transfusions. He has had a skin biopsy, they have sent the skin to be fed and nurtured so that it multiplies the existing cells for continuous testing.

He has had several ultrasounds now on his head, chest, and every organ in his abdomen. He's had ECG's and EEG's. He also has urine and stool samples taken everyday. He has his vital signs taken every two hours (blood pressure, temperature etc...) and his heart rate and blood oxygen levels are monitored all day. His diapers even have to be weighed! He has a nasogastric (NG) tube that he is fed and given his meds through (18 medications and vitamins a day so far) and a peripherally inserted central catheter (PICC line) to hook up IV to and also to take blood work from sometimes so he does not get poked too much. Well...I think I've covered it all.

If you have any questions please post them and I will answer the best I can. Thank you to everyone for the support and keep sending your messages and thoughts of love for our wild little Mitoman!

Monday, October 18, 2010

Mitochondrial Disease

The Mitochondria act as the "powerhouse" of the cell that produce energy for the body to live. Mitochondrial disease is an energy metabolism disorder that affects babies, children, and adults of all ages, races, and gender. Experts agree that at least 1 in 4000 children and adults have mitochondrial disease; however, "Mito" may be under diagnosed  until improvements in diagnosis and awareness occur. They think that up to 1 in 200 people may have it, but are under-diagnosed with things like Fibromyalgia or Chronic Fatigue Syndrome which could be in fact a Mito disorder. Symptoms of "Mito" vary in frequency and severity and are different for everyone. Mito disease is often progressive, or fatal* and can lead to death. Today there is no cure for mitochondrial disease; treatment is focused on energy conservation and vitamin therapy.

What are the Symptoms of Mitochondrial Disease?

The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are:
  • Poor Growth
  • Loss of muscle coordination, muscle weakness
  • Neurological problems, seizures
  • Autism, autistic spectrum, autistic-like features
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Heart, liver or kidney disease
  • Gastrointestinal disorders, severe constipation
  • Diabetes
  • Increased risk of infection
  • Thyroid and/or adrenal dysfunction
  • Autonomic dysfunction
  • Neuropsychological changes characterized by confusion, disorientation and memory loss.
  • Unexplained organ failure.
 *(there are worse things than death.)

    Need Support? You are not alone.


    Call us now at 1-888-MITO-411 (648-6411) to connect to a volunteer who can relate to the journey of diagnosis and the challenges of living with mitochondrial disease.  Volunteers are adults with Mito, parents of children with mitochondrial disorders, and caregivers.
    You can also email this month's volunteers by sending an email to mito411@mitoaction.org