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.

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