Wednesday, September 30, 2009
Tuesday, September 29, 2009
It has been concluded that before the extra oxygen, Nathan was doing everything he could to just survive. Breathing is difficult for him...it tires him out and sucks up all of his energy. Since giving him some help in this area, he is a totally different child on the energy front, the happiness front, the cognitive front. He is thriving! For the first time in his life, I do not wake up worried about his health because he is doing so good right now. He seems to be healthier today than he has ever been, and we are indeed thankful for that. So sure, having him on O2 continuously is a pain in the bodunkadunk, but it is completely and totally worth it to see the change in our little guy.
Monday, September 28, 2009
Abby scored 2 goals in the first half, and I am proud to say that there were no tears this time around. When we were over-eager parents of a first-born 3 year old and enrolled her in soccer way back when, she cried during every single game. She cried because other kids were kicking the ball away from her, because she stole the ball away from another kid, because we were cheering for her as she ran down the field and scored goals...you name it, she cried over it. I'm thinking we started her a little too early...so we took a 2 year hiatus.It's so much fun seeing your child participate in sports. Abby really loves soccer this year and is pretty good...says the parent. But the best part is that she is having fun...and being on a winning team definitely does help the fun factor at some point.
Thursday, September 24, 2009
Here are some myths and facts about mitochondrial disease, taken from the mitochondrial specialists at the Cleveland Clinic:
Fact - Acronyms were commonly used when these disorders were first described. Today, the naming of mitochondrial disorders is evolving. Mitochondrial disorders are currently named by any of the following methods:
- By acronym descriptions (still in use although most people with a mitochondrial disorder do not have an "acronymic-named" disorder)
- By a name based on a person who described the disease
- By a name based on a specific genetic mutation
- By a name based on a microscopic description of tissue, or
- By a name based on the deficient enzyme
It is important to note that the labels given this disorder do not, in and of themselves, predict the long-term outcome or alter treatment.
Fact - The current thinking is that most mitochondrial diseases are the result of one or more complex inheritance patterns. Most mitochondrial diseases are the result of mutations (changes) in DNA located in the nucleus of the cell. Only mitochondrial disorders caused by mutations in the mitochondrial DNA (a specific structure in living cells, located outside the nucleus) are inherited exclusively from mothers.
Another source of mitochondrial disorders that affects a large percentage of patients is poorly functioning mitochondria that become that way because of:
- another disease process (including other chromosomal disorders)
- exposure to toxins or viruses
- other inherited genetic mutations that are not disease-causing until "triggered" by some other genetic factor
Fact - Although mitochondrial disorders are commonly seen in infants and children, they can occur at any age.
Fact - Only some individuals have these developmental problems. Patients' symptoms can range from extremely mild to severe, can involve one or more body systems, and can emerge at any age. The brain, muscles, heart, liver, nerves, eyes, ears, and kidneys are the organs and tissues most affected. Most patients' symptoms fluctuate over the course of their illness -- patients at some times experience no or few symptoms, and at other times hav
e many and/or severe symptoms. Even family members with the same disorder can experience vastly different symptoms.
Fact - Even though these disorders are long term and incurable, treatments are available. Early treatment of symptoms can reduce their impact and limit further disability. Avoiding certain medications and stressful situations that worsen symptoms is also helpful. Certain medications and supplements may improve mitochondrial disease-related symptoms -- just as they do for other incurable diseases -- such as diabetes and emphysema.
Fact - An elevated lactic acid level, along with other symptoms, typically does indicate a mitochondrial problem and requires further investigation. However, elevated lactic acid levels are not seen in all types of mitochondrial diseases. In making the diagnosis, your doctor will look for other signs of mitochondrial disorders in blood, urine, and spinal fluid samples.
Fact - Although the muscle biopsy is a powerful diagnostic tool, it should not be considered a "gold standard." Examination of a biopsy includes microscopic evaluation, enzyme testing, and genetic testing. Although all U.S. labs that offer muscle biopsy meet
strict laboratory guidelines, there is no agreed-upon standard approach for enzyme testing. Furthermore, a muscle biopsy with full analysis costs well over $10,000 and poses both surgical and anesthetic risks. In some patients, the diagnosis can be made based on clinical symptoms and a positive blood test (identifying a genetic mutatio
n) or a combination of clinical findings and other non-invasive testing -- in either case, a muscle biopsy is not necessary. Finally, since biopsy results usually do not alter the long-term outcome or treatment considerations, some specialists and patients choose to treat without the need for a muscle biopsy.
Fact - Muscle removed for biopsy can be tested in many ways. For example, enzyme testing can be done on either ground-up muscle or on mitochondria extracted from muscle. Testing on extracted mitochondria is performed in only a few medical center laboratories and must be performed immediately. This procedure is known as a "fresh biopsy." In an alternative procedure, called a "frozen biopsy," the muscle is quickly cooled and stored at -80 degrees Celsius for testing at an outside facility. The scientific community is currently debating the advantages of testing "fresh vs. frozen" mitochondria. Some evidence indicates that the "fresh biopsy" may be the superior method. Other types of mitochondrial testing
of the muscle biopsy may need to be conducted; a limited number of laboratories offer such testing.
Wednesday, September 23, 2009
Here is a very informative video about another family's struggle with mitochondrial disease:
Tuesday, September 22, 2009
Emma: Mom! I had some yellow stuff in my ear and it was really really stinky!
Me: Yeah hun, that's called ear wax.
Emma: Oh. I got it out of my ear and put it in Nathan's hair.
(And do notice Nathan's hair...his very first big boy haircut. sniff, sniff. He looks so old now.)
Sunday, September 20, 2009
The second time I was introduced to the term "Mitochondrial Myopathy" was on July 3rd, 2008...at a neurology appt for my 4 month old son. This disease was at the top of the differential diagnosis for our little Nathan, and after months of further testing, it proved to be the exact diagnosis for him. Mitochondrial Encephalomyopathy (or Cytopathy or Disease...whatever your flavor) was the disease Nathan was diagnosed with on February 2, 2009 after a fresh muscle biopsy showed a defect in Complexes I and III in his mitochondria.
But what is Mitochondrial Disease?
"Mitochondria are organelles in almost every cell (with the exception of red blood cells) of the body that are responsible for creating 90% of the energy needed to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease. At the opposite end of the spectrum, many are severely affected, and some children do not live past their teenage years.
When is someone with Mitochondrial Disease at highest risk?
The child or adult is at risk for neurological or organ damage during and for the two weeks following an illness. Therefore even a simple flu or cold virus can have devastating effects on the patient, even death. Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.
How many individuals are affected?
Every 30 minutes, a child is born who will develop a mitochondrial disease. Each year, 1000 to 4000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging, we now know that the disease is approaching the frequency of childhood cancers."
The answers to the questions above were taken from the United Mitochondrial Disease Website: www.umdf.org. Please visit this site for more information on mito and how it affects its patients.
Stay tuned throughout the week for more information about mitochondrial disease. Because raising awareness will help raise funds for the research and treatment of this awful disease.
Friday, September 18, 2009
In a pickle with 3 unruly munchkins and even greater frustration, the dear mother had 2 choices: pack up everyone and trek to the boonies (seriously, who chooses to go to an eye doctor who is located in the section of town where you make sure you lock your doors...while you are driving?) or fix the dang suckers herself.
Enter in super glue. It must have been invented by a mother...right along with the hot glue gun.
Super glue fixer-upper #1: worked like a charm. The mother was able to see once again and made sure she no longer took her frustrations out of her poor plastic framed glasses. A month passed by...the glasses continued to progressively get looser and looser, falling down every instant she so much as looked sideways. Too embarrassed at this point to take them to the eye center in the boonies, she continued to gingerly tighten them with miniature squeezes. Crack.
Super glue fixer-upper #2: The first glue job was such a success that it had glued the lens to the frame. Unfortunately, the lens was not strong enough and had cracked an eensy bit. No problem for a fixer-upper housewife who was clearly skilled in art of the glue process, though obviously was not skilled in the art of tightening spectacles.
One evening, the mother went shopping for a dress for her sister's wedding and had a wild hair and decided to try on a dress that may or may not be horribly too small for her. As the poor woman tried to shimmy her rather large bodunkadunk into the dress, her arm got stuck beside her face (don't ask me how). In attempt to break free of the clothing's tight-hold on the larger than anticipated mother, her arm inadvertently smacked her in her own delicate face. CRACK! Once the dress released its grip from the visibly shaken woman, she looked rather defeated into the dressing mirror and caught her glasses as they crumbled into her hands. Really broken this time...the super glue had done its job and held the lens in place...the lens had not done its job and had broken right down the middle. Not capable of seeing without help, the larger than expected, dumber than expected, sillier-looking than expected mother made the walk of shame through the mall and drove home with cracked vision.
The next morning, she kicked one kid out at the front of the school and made the drive (with locked doors) to the spectacle store in the boonies. 100 bucks later, and she had a new frame and new lens ordered and plans to do one last glue job while she had to wait the week until the new glasses arrived.
Super glue fixer-upper #3: the glue was now getting low, so she made quick dabs here and there...just enough to hold it together for the last remaining days. Good as new...until the wee one of the family thought it was rather strange that mom had a crack down the middle of her glasses and decided to take a swipe at them for a closer look. Crack.
Super glue fixer-upper #4: the last of the glue. It was a shotty job this time, as the poor mother squeezed with all her might to get the very last drops of super glue around the frame. The glue was becoming quite stringy and messy. She left the frames to dry for a few minutes...she had learned that if she put the frames on too quickly after the super glue job, the fumes would meander to her eyeball and cause her to run screaming to the bathroom for a full blown eye ball flush. It weren't a purdy scene.
Upon putting the glasses to her face once again, the mother realized that there was a very distracting line in her vision on the other lens. Super glue. Somehow, the glue had meandered to the other frame and left a gluey skid mark. Mother then curses her mother for giving her bad eyesight and contemplates taking a hammer and the glasses out on a walk.
Morale of the story: Don't use super glue when duct tape will work just fine.
Thursday, September 17, 2009
Photos for Mito
Date: November 7, 2009
Place: Trinity Methodist Church
times vary through the day
email: firstname.lastname@example.org to reserve your spot today
The logistics: I will do 10 mini sessions throughout the day on November 7th. These sessions will last about 20 minutes long, and you will receive 5-10 edited images from your session on a CD with full printing rights. The price for participating in this fundraiser is $50, but we encourage you to give as much as you desire. All money received will go directly the the United Mitochondrial Disease Foundation, a non-profit foundation whose mission is to "promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families." (umdf.org)
Please email me at email@example.com to reserve your spot today. There are only 10 spots this year, so send your request in quickly. The location is at a church on a gorgeous lot of land. They have been very generous to allow us access to their property for the full day and have even given me tips on good shooting locations around the land. Thanks to everyone at Trinity UMC! The address of the church is 4000 NW 53rd Avenue, Gainesville, FL 32653 and click here for directions. All photos will be taken using natural light in the outdoor setting, so please pray for no rain on that day. :)
We hope to see you at our first Photos for Mito fundraiser!
Wednesday, September 16, 2009
Tuesday, September 15, 2009
We thought that Nathan was getting enough O2 from the air we breathe since his saturations were staying okay for a majority of the time, but we were obviously mistaken. We should have known that his constant retractions and belly breathing were a clue that something was amiss. Within a few days of starting oxygen therapy, we seem to have a different child in a lot of ways...
The little guy is just so happy now. He runs through the house with a big ole' grin on his face and jibber jabbers through almost every waking minute...change #2: the amount he is talking. He is babbling...finally. Most 9 month olds pick up this skill with ease, so it is a blast to see him babble almost constantly in his waking moments. He is also picking up actual words better and repeating them from time to time. This is such a fun time indeed. Sleeping...my, oh my, it is so good to see my little guy sleep until after 7am each day. And better yet, it is so nice that he is quiet throughout the night. From the time he was a wee wittle lad, I could hear him through the baby monitor rumbling around in his crib every few minutes throughout the night. This cycle was evident on his last sleep study where he had a total of 160+ arousals during the night. I am ecstatic to say that he seems to be sleeping infinitely better through the night now and waking up excited and refreshed. What a difference a good night's sleep is to a body! But one of the biggest differences we have seen since Nathan has started on oxygen is sheer contentment. He will sit and play with a toy for 15 minutes. He will watch an entire Dora episode. He will read books over and over by himself. He will sit...still...for minutes at a time. And he does not have nearly as many "crashes" throughout the day. He just seems like he feels 10 times better. It's amazing to witness.And we have realized that having him on continuous O2 has been a very easy adjustment...probably because we see how much it helps him. I took Nate and Em grocery shopping this morning with no problem...just chucked the tank in the cart. Then I took them all for a Lillipops photoshoot this afternoon with no problem. In all actuality, having Nate on O2 was actually a good thing for the photo shoot because he couldn't venture more than 25 feet away from me (that was all the tubing I brought with me today). It served as a good little leash for today's adventure...as well as last night's soccer practice. It's not bad once you get used to it all. Sure, people stare and give you the sympathetic look and ask if he has gotten the flu or has asthma, but we really don't mind the inquiries. It's all totally worth the fact that out little man is doing outstanding right now.
Monday, September 14, 2009
Emma: Is she drinking milk from your booby? That is SO AWESOME! I've never done that before. I bet it tickles.
I'm seeing a bright future in the La Leche league for the gal...probably wearing a little button that reads "Boobies are our friends" and hosting sit-ins at all of the anti-nursing zones around the public arena. But don't mess with her on a bad day...she may be little, but she's feisty.
Friday, September 11, 2009
Abby: Did you hear it? Did you hear me crap?
Me: (perplexed, yet laughing almost hysterically) Huh?
Abby: When I jumped, my body made a huge crap!
Me: Ohhhhh, CRACK! Honey, those are your joints popping...cracking. Make sure you put the "CCCKKK" on the end. Cracking is completely different from crapping.
Notice anything different about the little miss in the picture above? That's right, she lost her very first tooth tonight. We realized that the tooth was merely holding on by a thread at dinner when eating was a bit painful for her, so we decided to congregate as a family around the sink in our bathroom as we coaxed the baby tooth out of her head. It worked, and she is so dang cute sticking her little tongue in and out of that teeny tiny hole.
I volunteered to be a helper in Abby's classroom this morning for their "center time" and had a complete blast. I was taken back a few years and realized why I had majored in Elementary Ed in college for the one year I was enrolled (before I got married)...I love these kids. I love seeing their little minds work and try to figure out life and learning. I love seeing their little personalities blossom. I love their little hands and zeal for everything in front of them. This is such a fun age. That being said, I am so glad that I can be the mom who volunteers to help in the classroom for a couple of hours once every couple of weeks instead of being with them every single day. I have high respect for kindy teachers! HIGH, I tell ya. These kids are a handful, yet they are so full of love and energy. I had so much fun today, and I really can't wait to do it again.
Thursday, September 10, 2009
Little did I know that once everything was set up, it wasn't that big of a deal. It's amazing how big we chalk some things up in life to be when we don't understand them fully. We have a good relationship with our home health nurses stemming back to the apnea monitor days we had when Nate was a wee wittle lad. They are familiar and comfortable with our family and are always so helpful on these sometimes daunting changes in our lives.
We have a concentrator for our house and about 50 feet of tubing. Nathan can run around the house like usual with periodic primal screams that reveal that his tubing has gotten stuck somewhere and the cannula is trying to drill another hole into his head. But for the most part, he gets around with ease. I saw him actually pulling the tubing behind him at times throughout the day to help it along or get it unstuck. He's a quick learner, the little dude. He cried when we put the cannula on him the first time...and well, the first day he cried anytime we had to adjust it or retape it or whatevertheheckelse. But he didn't try to take it off or mess with it at all. He just accepted it. We were obviously shocked at this, but we really shouldn't be because it was something I specifically prayed for...his acceptance of this new change. Today, it hasn't bothered him hardly at all. At one point, the tubing was stuck and pulled the nasal prongs into his mouth. He just walked up to me with a sheepish smile on his face because of his funny problem and let me fix it without even a whine. And by this afternoon, he was wearing the cannula without having to have it taped to his face. He just doesn't mess with it at all, and it stays put easily on him. His sisters have responded really well to this new equipment as well. They both tried wearing it for a couple of minutes and thought it was pretty cool. But they have both asked if he will have to wear it forever...to which I reply, "Well, I hope not." And really, we don't know. We don't know what to do from here, and that was one of my main hesitancies on starting it to begin with. The what ifs... But, we prayed for guidance and a clear answer, and I believe God showed us what we should be doing right now. Sure, it is a pain in the bodunkadunk to have all this equipment and somewhat sad and frustrating to get the looks and questions we get when we take him out, but I feel like God showed us a path to take, so I don't want to complain about this path.
I do know as a matter of fact that as of a little under 24 hours on O2, Nathan's breathing showed a dramatic change. The retractions have lessened to where we rarely see them, his breathing rate has slowed some, and his chronic belly breathing is mostly absent. For the first time in Nathan's life, he looks like a normal kid breathing. In fact, there are times where I have to look really closely to see if he is actually taking a breath...that has never happened, as we have always seen retractions in his ribs and a large ballooning of his belly with each and every breath he takes when he is awake. It is simply amazing to see him take breaths so effortlessly. We can not deny in the least that this is helping him, and I can't wait to inform his doctors of this change in him. So we don't know how long Nathan will be on oxygen, but we do know that it has been a fairly easy transition to this new way of life...and we also know that we will continue to pray for guidance and strength along this journey.
Wednesday, September 9, 2009
Tuesday, September 8, 2009
I am fully aware that I will be beat up one side and down the other for posting this picture, but I just can't help it. I'll take the beating. This picture makes me laugh every time I look at it. Love that woman...love her dearly!
Friday, September 4, 2009
Every afternoon, I hear story after story about her new friend. She and this girl are seemingly inseparable. All I hear during all of our afternoon talks is "I just loooooove Erin. I'm going to draw her another picture." While it was neat hearing about her new budding friendships, I was a little concerned about all the attention Abby was paying to her new friend...you know, hoping that it was mutual and that I hadn't created some sort of stalker kid or something. So, I was quite relieved when I met Erin's mom at last night's open house and she said that Erin has been talking about Abby all the time as well. Phew, so my kid isn't that strange then. Good thing. However, she did come from half of my gene pool, and I distinctly remember writing all over Cami Grebel's face in our kindergarten yearbook "I LOVE CAMI!!" Gotta love that kindergarten joy.
Emma has had a really good week. I was telling someone the other day that I have always loved Emma. I mean seriously...she's my kid and all. I love her. Right? But I have just realized how much I really like the kid. She's fun and hilarious and sweet and just such a joy to be around. She and I have been able to spend some really good quality time over the past couple of weeks since Abby has been in school, and it has been great for both of us. She's a smart little thing. I know this sounds completely awful, but I really didn't realize how smart she was until I was able to spend some good one-on-one time with just her. And she catches just about everything that you say...even when you don't think she is listening...The other day, the girls were inquiring about someone that they saw smoking...what the affectionately refer to as "blowing smoke". They asked why we don't blow smoke, so I just non-chalantly told them it was because we cared about our lungs and didn't want to hurt them. Sounds safe to tell little-uns, right? As we walked around the hospital grounds this morning, we passed through the smoking area outside the doors of the hospital. Emma took one look around and proclaimed "Ugh! Why these people not care about they lungs?" As I was trying to hurry her along and shushing her at the same time, she immediately switched the subject to "I need to go pee-pee. Can I go over there in the grass?"
Nathan had a really full week as well. He was cranky and just off the first part of the week, but he turned it around and has just been a delight this second half. He is becoming so expressive and hilarious in his psuedo-conversations. Yesterday was his regular neurology appt, and it was a really good one. I talked with his neuro for probably almost an hour about aspects and theories and treatments and whatnot with mito. His neuro is extremely interested in this disease and said that if he wasn't specializing in epilepsy, he would probably want to specialize in mito. I am still trying to recruit him to the mito world, as there are so very few who do specialize in it. However, in the words of Nate's neurologist "It's a very muddy disease". Indeedio, it is. There are no absolutes in mito; no set course; no two kids with this disease who look the same...not even in the same family with the same genetic mutations. You just never know what to expect around each corner. And to top that off, you never really know what to do for treatment...sometimes you don't even know how to treat the symptoms. Indeed, it is a very muddy disease.
He was glad that we are heading to Houston to see the mito specialist out there. In the mean time, we were told to treat every infection like it is Nathan's worst...according to our neuro, the next few years are extremely critical in this manner. Insert a rolling eyes emoticon here at the sheer fact that the piggy flu is lurking around every palm tree in this state just about now. All in all, it was a very easy and fun appt, as we just sat and talked about so much. I really like our neuro and his nurse practitioners. We have definitely been blessed with wonderful doctors along this journey.
The little guy had to make the trek back up to the hospital this morning for the immunology bloodwork he has to have done every 6 months. It was a LOT of blood, and he reacted rather harshly to the phlebotomist, but I don't blame him after last Friday's ABGs. He definitely knows what the equipment for drawing blood looks like now and started screaming the instant he looked over and saw the blue rubber bands they use for tourniquets. I really felt bad for the fella. His blood draws aren't too bad...he stopped crying just a few seconds after she stuck the needle in, but I can definitely tell that he is scared about everything now. That breaks my heart. The great news is that it looks like we have a break from doctors appts and blood draws for a while. I'll hear more on the O2 schtuff within a week or so, but no doc appts for 3 weeks! Woohoo!!