Saturday, February 20, 2010
This is from the past week off of Zach's CaringBridge site......
Tuesday, February 16, 2010 3:54 PM, EST
Sorry I wasn't on here yesterday - it was a VERY long day of appointments.8:00am we were at the hospital and with Zach's complicated medical history the appointment took longer then they anticipated. We received all the information for his procedures.Left came back to the hotel for a little while then it was on to......11:00am The medical records I sent were so good (according to the doctor), this appointment took shorter then we thought. About an hour and 20 minutes. It was a really good appointment and I LOVE Dr Shoffner - I'm so glad Emmy told us about him and truly feel he is going to find something. The way he was talking --- it sure sounds that way. Doug and I were both equally impressed by the wealth of knowledge he had of Zach just from reading the records....it was all typed up and he still didn't need to refer to it when speaking with us, he described our son to a T ----- unlike any doctor we have ever seen with Zachary :)1:30pm came along and it was time for Zach's RMR. He did so well! I have pictures but need to post them when we are home.Today 2/16/10 we were up at 4:30am and at the hospital at 6am. Surgery was going to start at 7:30 but started just a little late. We were very worried about Zach but it went well. Zach did "Great" according to the doctors. They took many new precautions to help Zach - mainly because of them looking at mito as a possibility and also partly because of Zach's previous experience with not being able to hole his own oxygen levels after surgery. This is common with children who have the types of issues Zach has -- according to Dr. S, now does that mean Zach has mito - we don't know yet, but from how Dr Shoffner was talking I'll be really surprised if he doesn't. I'll write more about the appointment when we are home.Right now Doug is stuck with the kids in the room and I better make sure they are all okay.Thank you all so much for your prayers and support - it has helped us threw a very tough time. FYI we will have the results from Dr. Shoffner in 6-8 weeks and the report will come right to our home --- fingers crossed, more prayer, and all the positive thoughts you have for some answers, and for it to come quickly!
Thursday, February 18, 2010 8:38 PM, EST
We are home, safe and sound - catching up on rest. Sleeping in a hotel no matter how nice it is, is never a replacement for the comfortable warmth of home.We came home yesterday and picked up Otis. He was happy to see us and boy were we happy to see him. It amazes me how much animals really do help us humans with stress.Grandma and Pada came by for a welcomed visit. Both kids and puppy were happy to see them - we were too :) After they left we spent the day resting. Zach was in and out of pain and his irritability levels were super high. I'm happy night came quickly and both kids are sleeping peacefully.I think I'm about to follow suit....Night!
Friday, February 19, 2010 1:41 PM, EST
WOW is all I can say! My head is spinning from the e-mail we just recieved from Dr Shoffner's office.No real news to report - the tests aren't done. The e-mail was 9 pages of clinical notes from our appointment on Monday. I simply can't believe we got something so fast. Let's keep our fingers crossed the tests come quickly as well. I'm wondering what his little cells are doing right now.The e-mail has information on all the tests that are being ran 26 in all. It also tells us more detail about the things he is looking into finding:
Cerebral folate deficienciesMitochondrial DiseaseDisorders of creatine metabolismChildhood onset myotonic dystrophy *type 1It says that the tests will be back in 6-8 weeks or longer depending on rate of cell growth. The one thing that has me choked up is this information:Defects in oxidative phosphorylation can be associated with the features described above (this refers to in the conclusion of Zach's symptoms). It is important to consider the possibility that this patient could harbor a nuclear or mtDNA mutation that is related to the clinical presentation. MtDNA mutations can be sporadic or can be segregating at very low levels within other family members making distinctions between nuclear and mitochondrial mechanisms difficult. I am by no means a doctor but I feel, just as I felt in the appoinment, that Dr S will find Mito. I just hope we don't hve to go further with this and all be tested at some point.
Saturday, February 20, 2010 9:21 AM, EST
Zach was up 2 times last night with issues BUT no screams or tears, that was the nice part. Now if only we knew what was causing these sleep disturbances - so we could all rest.His leg seems to be doing well. He hasn't used any pain medication since Thursday :) Zach is still limping and I'm noticing him turning in his feet (a lot) if it doesn't stop I will talk with the doctor this week and also his therapists. He has had issues with turning in of the feet all along but it comes and goes so nothing has ever been done about it. I don't know if it is happening more now because of his surgery or not.
Monday, February 8, 2010
Monday: Tests in the morning and a two hour appointment with the doctor. I am excited and nervous to meet Dr Shoffner. I realize we won't have answers that day - but I have a glimmer of hope, maybe, just maybe he'll see something that sticks out to him and say "AH Yes...it really could be this or that or this or that - but of course we'll need to see what the tests say"
Holy Cow that means in ONE MORE WEEK & ONE DAY we will be waking up preparing for an even bigger day of tests.
Tuesday: Muscle biopsy and spinal tap. We've been trying to explain to Zach and so far he is ready for it. This morning when picking out his clothes for school - he came across a pair of fleece brown pants with matching jacket and a baseball shirt, he asked "I wear dis do hospital? It cozy" DONE pulled it out and packed it up :) Zachary is such a little trooper - I think he wants answers just as much as we do at this point.
I think Doug and I are still in shock this is happening and the fact it is happening so very quickly.
We have had an outpouring of support from people both near to us and from afar friends, family, acquaintances, and also from people we've never met. Thank you all for your support and prayers! I can not tell you how much reading your entries in the guest book or getting calls, letters, and e-mails has meant to us.
In a letter Doug put together for someone he said it best:
In a time where we feel frustrated, defeated, and emotionally drained you have restored our faith in the caring nature of mankind. Although Zachary is too young to understand, he will learn about all of the support, prayers,kindness, and generosity we have received as he grows older. Thank you from the bottom of our hearts!
Friday, February 5, 2010
Getting into see a new doctor is nothing new to us but what is new is the fact this one is very specialized. We see specialists, LOTS of them, here in town but none like this. For each doctor we see there has been a reason - mainly a system is off with Zach, so we see someone in hopes they will help and find out what is wrong...
So far, NADA! We hear "Yep, this or that is happening, but why? We don't know." "It is hard because he has so many systems involved" "We've never seen a case like this before" "It must be rare or never seen by anyone before now" "We'll treat the symptoms, that is all we can do!" "We can't tell you why this symptoms are happening, they just are." "Let's make him as comfortable as we can"
Hearing these over and over is of course very repetitive but more so it is VERY frustrating to us.
It is like a new friend wrote to me:
"I'm so hoping that the doctor in Atlanta will have answers--no matter what, as we learned when Jamie was 9 1/2 , having an answer(s) truly is better than not knowing how to help your child. Of course, now if they could find a cure , that would be even better :) But, we treat symptoms, and that is surely better than not knowing what the symptoms are symptoms of. "
She totally nailed it on the head with all of it especially for us the symptom aspect of it all.
The whole reason to go to Atlanta is
A: Because of Emmy's long talk with me she lead us in a direction
B: Because I brought it up with the doctors we now have 3 doctors who believe this rare issue just may be what Zach has.
C: There are very few doctors who specialize in Mito diseases and this doctor in Atlanta is know as one of the best!
What we are looking for is Mitochondrial Disease:
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.
OR simply put it is a disease that affects ones way of producing energy. It affects each individual differently - no two people will present symptoms the same.
- About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.
- There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, or delay or prevent the progression of the disease. Treatment is individualized for each patient, as doctors specializing in metabolic diseases have found that every child and adult is "biochemically different." That means that no two people will respond to a particular treatment in a specific way, even if they have the same disease.
- The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal. (highlighted are what systems are all ready affected for Zachary)
- The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are: (I have highlighted Zach's symptoms)
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, diarrhea
Increased risk of infection
Thyroid and/or adrenal dysfunction
Neuropsychological changes characterized by confusion, disorientation and memory loss.
- Once a patient is diagnosed with a specific mitochondrial disease, the patients medical problems have already been identified or can be identified with proper testing so treatment can be initiated to relieve symptoms and delay the progression of the disease.
There is no way to predict the course of mitochondrial diseases. They might progress quickly or slowly, even over decades. The disease might also appear stable for years.
I am aware we do not know if this is what Zach has or not. There are many other symptoms of this disease that are not as common that Zach also exhibits. To us it makes sense that this really may be the answer we've been seeking for the last 3 years 4 1/2 months. Please pray that we find an answer for Zachary whether it is this or something else, we need a name so we can help Zach the right way and give him the life he deserves as normal as we can.
Thursday, February 4, 2010
This morning Doug and I were woken up by Otis needing to go potty. Doug took him out and I lingered behind trying to get in a couple more zzzzz's.
When they came back inside Doug forgot to shut the bedroom door, so Otis was roaming the house.
Next thing we hear are the two kids voices saying, from afar... "Good Morning Otis!" The voices were coming from the same room in the house............
Zach's bedroom door had been left open AFTER he woke up in the middle of the night and went into his sisters room telling her "Zoe you need sleep with me, I sad"
Zoe woke up, got out of her bed and into Zach's to -- in her words..."I needed to help comfort my little brother, so I slept with him"
Now honestly.....it doesn't get sweeter then that :) I think my Thursday was made perfect by sibling love!!!!
Tuesday, February 2, 2010
As my wonderful cousin Pam wrote:
I hope Atlanta will have some fun time for Zachary too! Have a safe trip. ~Pam
Which got me to thinking -- we were already planning it, Atlanta has a bunch of fun things to do but the biggest and what I think is the most fun will be the Georgia Aquarium!
So our itinerary is looking like this....
Saturday Feb. 13th drop off Otis at our breeders house and head to Atlanta. This is about a 6 hour drive. Hopefully get acquainted with where all his appointments are at.
Sunday Feb 14th: is Valentines day and what a better way to spend it then as a family at the Aquarium! http://www.georgiaaquarium.org/
Monday Feb 15th: he will fast and then have some tests in the morning. From 11am-1pm we will be in with Dr Shoffner. Then hopefully we will relax a bit or do a little site seeing to get our minds off of what lies ahead the next day.
Tuesday Feb 16th: Zachary and of course Doug, Zoe and I will spend the day in the hospital having his biopsy and spinal tap.
Wed Feb 17th: a day of rest and hopefully that will be in the hotel not the hospital as long as surgery goes well.
Thursday Feb 18th: Hopefully we will be making our way home and picking up Otis - again this will depend on how well Zach is doing.
I don't have all the times of the tests yet. I should receive a "large e-mail" hopefully today from them. I am also waiting on calls from the hospital. We need to talk with the anesthesiologist and I've been told to make sure they are aware of how hard it was for Zach coming out of his last surgery. We also have to find out how much this is all going to cost us. Please pray that somehow insurance is covering it -- after all that is why we pay for insurance BUT as we know it doesn't cover most of Zach's medical needs so I will not be surprised by anything at this point.