Friday, December 3, 2010
Milo and his family would like to donate My Button Buddies pads to their local children's hospital to brighten the faces on other families dealing with feeding tubes.
Please check out this wonderful cause and pass it to all the people you know.
Wednesday, May 12, 2010
He is having a rough go of things lately and I find it really hard to keep up here and there and learn all I need to learn about his disease.
Thank you all so much for your support! AND I'm so very sorry I've let my blog go....
Wednesday, April 21, 2010
Monday, March 8, 2010
You can read more and vote for the idea by clicking the following link:http://www.change.org/ideas/view/25_million_it_is_time_to_care_about_rare_disease
The top 10 voted ideas will be presented at an event in Washington, DC to relevant members of the Obama Administration, and then promoted to Change.org's full community of more than 1 million people. So we could have a real impact.
Thanks for the help!
Wednesday, March 3, 2010
Tuesday, March 2, 2010
Only 4 - 6 more weeks left......as I keep saying let's keep our fingers crossed it won't be longer. I have met some families who had to wait 16 weeks - these mom's and dad's must have the patience of a saint.
Zoe is doing really well. She has been healthy and no issues in a while with her. Spring break and her BIG #7 birthday are almost here. 7 going on 17....she can't make up her mind of what she wants to do for her birthday.
Doug is having his moments. I think all the waiting and worrying is really taking a toll on him.
Me pretty much the same as Doug.
Zachary......this kid is an AMAZING little kid. He has his bad days (more often then not lately). Yesterday we got the good news he may graduate from ST soon. That has been a long time in coming but with the good news there seems to always be bad to follow.....His SM is awful and out of control - to the point of not talking to therapists he's had for years now. There is also a new concern from the SLP about the possibility of Auditory Processing Disorder http://en.wikipedia.org/wiki/Auditory_processing_disorder
Hopefully this will not hinder his graduating from ST - we will see in the coming months.
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.
Sunday, January 31, 2010
Zoe has her first black eye....Otis was hyper because of Zoe and she was sitting on the couch when Otis decided it would be fun to jump up there behind her and knock her off. Zoe's right eye does not look so good from the hit it took on the edge of the coffee table. She's says it doesn't hurt now unless she touches it. So hopefully it will be gone soon.
Zachary has been all out of sorts and his dyspraxia showed its ugly face more times then I care to count this weekend. Lots of forgetting words, drooling, groping, and falling when walking. We've also had lots of issues with not understanding things, causing some tantrums to take place.
To top off all of this, today has been a VERY bad diarrhea day - or a very bad stomach day for him. I simply can't explain it to those of you who have not experienced his BM's for yourself - but I will try. They smell so very foul that we need to change his pants if we don't the smell still lingers making us think there is a poop when in fact there isn't. Today Doug asked Zach what it smells like to him (as they were both choking over changing him) and Zach's answer was "smells like vomit" I laughed when Doug told me but the sad thing is they kind of do smell that way mixed with awful smelling poopy smell. My description of the smell does not do it justice -- I have honestly never smelt something so bad in my entire life! I know this is really gross to talk about but the smell that comes from him is so very abnormal. AND today we dealt with the smell 4 times. Poor kid.....poor smelly little man. Hopefully tomorrow will not be the same for him and his teachers.
Tomorrow we have another appointment with the psychologist. We have the papers she wanted us to answer all filled out and ready to go. I sure hope we hear more from her about what she thinks is going on and how she can help us to help him more. If not this will possibly be the last appointment we go to. We just can not afford to see her weekly paying 100% out of pocket on top of all the other medical bills/expense we already have for Zachary.
Friday, January 29, 2010
This CraingBridge page has me forgetting all about where my journey started.....right here with blogger and I need to remember how much writing on here has gotten me threw!
No real new anything to report....I'm tired of double posting, it feels too repetitive.
Zach is okay he had a good nights sleep -- but somehow I feel like I'm still lacking in the sleep department.
The kids both had their report cards this week. I'm in shock at how fast the school year is passing us by.
Zachary is doing GREAT and progress is being made.
Zoe is simply AMAZING this kid is so good in school -- she really must get it from Daddy, as Mommy never liked school the way Zoe does (at least for now). All M's and 1's -- the best it can be in 1st grade and a wonderful note from the teacher as well, about how well Zoe is doing and how impressed she is by her abilities and that she just wants to keep encouraging her to keep up all the hard work.
Monday, January 25, 2010
I am very conflicted right now about what to do and what is going on.......
First a small update on Zachary.
He had his first feed toward the end he complained of pain. We stopped it early.
Then the diarrhea came....it was bad and oh so foul smelling I needed to change his pants (this is extremely common with his bowel movements).
He was out of sorts most of the day with spurts of energy and happiness here and there. He has wanted carried a lot today and we've been hearing "I want up" a lot more lately but today he was really bad with wanting/needing carried around.
His second feed he refused.His third feed, he gave into letting us hook him up but is now screaming "mommy stop my pump" and crying. - small update -- Doug now has him laughing and enjoying football, while still using his pump :) -- another small update: we've had to stop this feed too :(
To top this all off Doug's Grandma is in serious condition after experiencing her 2nd major heart attack this week. My in-laws are on their way up there first thing tomorrow. AND we have no clue if we will be able to make it up there because of all that is happening here. Zach is getting worse and travel will be very hard (we have not traveled in 2 years and now that things are even different there is such a fear to be far from our doctors). Doug is contemplating going without the kids and I but worried about us being here with no help. I know that Grandma knows and would understand. Doug is very grateful he was able to talk with her last night and let her know he loves her as do we all.I know my CaringBridge site is about Zach but please keep Doug's family in your thoughts during this difficult time. Grandma has lived a very long wonderful life and we all want her to have some comfort and peace.
Right now all I want to do is cry!
Last night was a horrible night for Zachary. He woke up screaming - yet again. We got most of it on tape. This episode lasted about 30 minutes. He would tense up and then just shake his arms and legs. He would move his head....but not just move it more like throw it back and forth. He wanted to be in my lap but did not want me to touch him. He screamed until he turned blue. I'm unsure tears were even coming out the whole time. The scream is blood curdling it sounds as if we are hurting our son. These episodes are becoming much more frequent and much harder to watch as they happen. They wear him out.....he needs to be carried back to his room like you carry an infant.
This morning was the first time I saw something new......He wouldn't wake up. He was laying in his bed, on his tummy and I can't even say he looked peaceful, he looked stiff. Normally the sound of his door opening wakes him - not today. This is the first time in 3 years his door did not wake him. Me rustling in his room did not wake him, me talking softly to him did not wake him. It was not until I physical touched him that his eyes opened. It was as if this last episode took so much out of him.
I reminded him he had school and he let me put him on his changing table to get him ready. While he was up there he asked if I was picking him up at school and I told him no he will ride the bus home. He flipped out and started crying and saying "I no no go"I sent him to school anyway. I feel mean for it, but he is not sick. I've been reading one of the best things to do when the child is having a bad day is to send them to school so the teacher can see the difference in the child. This way we have more support when we need it from another area. I did send a note stating I will pick him up if need be.
BUT I am hoping he will start to have a better day.I'm also very upset because I have bad news to report.....we do not have an appointment in Atlanta yet. The doctor up there needs a referral letter from our pediatrician. She sent one 2 weeks ago......I sent a copy of it with all the records we sent up there AND yet they are saying they don't have it. I sent another one just a little bit ago and at 9am I will call our doctor here and have her call them. UGH this is such a pain!!!!!!
-------small update: I just heard back from Camille (she is the scheduling coordinator) she received the letter I just sent and will contact me with an appointment if indicated from the doctor as soon as she hears from them. PLEASE if you pray please pray we hear something...something positive with an appointment soon! For Zach's sake and for our sanity we really need some answers as we are watching our son getting worse.
Well, I have become really frustrated over the episodes that keep happening more frequently and are becoming worse. So I called the pediatrician this morning and she had me get Zach and bring him in. She wanted to make sure these aren't seizure activity.
I picked up Zach and headed to the doctor. He was happy to see me and was having a good day at school. When I got there he was with Coach --- I never knew that they take the kids in small groups for extra PE. I'll just think of it as some extra PT he needs :)We got to the doctor and were seen right away (she is always so good about that - sure makes going there easier) She wants Zach to see yet another doctor a neurologist but not the same one we've seen....this one specializes in something else. _ Please forgive me for being vague, I have a lot going on in my head right now. She is going to e-mail this doctor personally today to let her know the severity of Zachary's case. She is hoping that she will see Zach quickly and also run a sleep study as well as electromyogram (EMG) and anerve conduction velocity (NCV). The last 2 tests are to help rule out MD. We had a worry of possible MD in the past and some blood tests that were done basically didn't rule anything out but the two neurologists that we've seen both agreed to continue being watchful. So with all that is happening she feels it best to move forward with some more testing for MD -- just in case.
It is very hard for me to explain....Zach looks normal, and pretty much acts normal - but there are times where he can't do normal things. He seems to be having a lot of that lately. Like this weekend we were at Publix and Zach was making this new noise he makes (kind of like a grunting sound) an older woman walked past us and says "That is an awful noise your son is making" She made me feel bad and poor Zach he looked so worried and wouldn't you know the sound became worse after she said something to us. OR Zach's feet turn in when he walks, or sometimes he can only walk stomping or up on his toes. OR talking his first sound was the D sound and this weekend he could NOT use the D sound when trying to say "drop" -- what would normally come out clear came out so messed up he was frustrated we had no idea what he was taking about. OR Zach asking to be carried a lot more lately. OR Zach holding scissors in one had but needed his OT to actually move his other arm and hand -- help put paper in the hand and hold his hand shut because he could NOT do it himself. I don't know...these are just a few of the many examples I could list. BUT I have to add just like I told the doctor these things DO happen but so far they aren't happening all of the time but they are occurring much more frequently.
As Dr M says "there is regression happening, and we want to try to stop it from occurring if at all possible or at least find out what is causing it"While we were at her office she had the progress note from Dr E. It was very dishearteningto read what he thinks. I knew from talking with him, but seeing this in black and white just seem worse sometimes. Dr M is going to do some research on treatment for mitochondrial disease so that she is up to speed as she can be. I'm scared, as we now have 3 doctors who really think this is a high possibilityof what we are dealing with.
Please pray for my little boy!
Thursday, January 21, 2010
Zach got into Atlanta. We are still waiting on the dates but we received all the new patient information and I was to send it back stating we have it. Hopefully we will have the dates tomorrow....then I will be 100% he is going.
Zach had a very rough day at school and was in much pain. I picked him up and we headed to his GI appointment.....it was a decent appointment. We spoke a lot about Mito and going to Dr Schoffner and what our GI wanted to do.
GI: is all for Atlanta and thinks it is the right step to take and in the right direction. However he told me as much as he'd like for us all to figure out Zachary he is really hoping the signs aren't right. He told me that in his 20+ years of practice he has ever only seen a handful of children with mito and it was never a good thing. There was so much more said........He started talking about wanting to do more scopes on Zach now BUT was very fearful of doing them because "if" this is what he has going under anesthesia is VERY risky (yes, it is always risky) but he was saying it is even more so in people with mito. I asked if this is a reason Zach had a really hard time when he had his button placed and he said "I forgot how bad that was, and yes this is making sense" There were a couple more things he linked to Zach possibly having mito as well.
I'm just so tired I'm not even seeing straight at this point. As much as I want answers I am now conflicted with if I really want those answers.
It was another long night with Zachary. He woke up at 2am....this time there were no screams, he just walked into our room and climbed into the bed while whimpering. This is TOTALLY out of character for him - even as an infant this child did not like sleeping with us, he has ALWAYS needed his own space. Once in our bed he started crying and having a rough time. His breathing is very hard for me to explain but I will try......it has been sounding if too much air is going in threw or coming out of his nose even when I ask him to breathe out of his mouth all I can hear is the air threw his nose. The breathing issues are not just happening at night they also happen during the day as well. This has been happening for a while and is getting progressively worse. He does not have a cold and as of last week the allergist said his passageway is clear. Zachary is to see his ENT in March but I think I will check in with them today about this.
We let Zach lay with us for a while to try and calm him, then I tried to put him in his own room. He wanted nothing to do with being in there. I said "Mommy will lay with you a little while" and he replied "I no want to be in here, doh in your bed" and then the tears came, then the breath holding came and mommy was scared for him and also very tired so I moved him back in with us to where we listened to more crying which slowly turned into whimpering.
Daddy seemed to sleep okay, but Mommy was up the rest of the night until the alarm went off. I am very happy for the peace and quiet that is here right now.
Anxious because......... WE HEARD FROM the doctor up in Atlanta :) He still needs to review the information we sent but the scheduling coordinator contacted us first thing this morning and is checking our benefits with the insurance company. I am hopeful this is a good sign he will be seen. We just wait until we hear something more at this point.
Anxious because.......... today is Zach's appointment with the GI. I have no idea what is happening and having to move 2 appointments up so fast is just mind reeling for me at this moment.
Anxious......... to hear what this doctors plan of attack will be.
Anxious......... about the appointment because either we will hear something or it will be another one of those "well we just don't know" The dietitian has mentioned that he mentioned J-Tube and more biopsies/tests -- that in itself has me anxious since Zach has already been threw so much.
Hopefully as the day goes on we will be getting all positive news.
Wednesday, January 20, 2010
I'm happy that Doug read the paperwork better then I did to see that the files could be faxed or e-mailed. I guess, all that working on filling the questioner out right and getting the records I overlooked the options of sending all that information - let's hope I didn't overlook anything else. BUT boy am I HAPPY we found an easier....FASTER way of getting them up to Atlanta.
Now I guess the real wait begins to see what will happen next......
Tuesday, January 19, 2010
At this moment Doug is busy copying them so we never have to pay for this past years worth again. It is ashamed that the doctors who can not figure out what is wrong with our son charge for us to have our own records to get seen by another doctor! OH but if I would have had them send the records it would have be free. It just irritates me to no end we had to spend $100 on our sons records.
BUT on the good, positive, flip side we have them! I will be sending them overnight tomorrow and hopefully getting in contact with their office by Friday and hoping (fingers crossed) to hear Dr Schoffner will see Zachary soon :)
She seems rather nice and knowledgeable. She specializes in young children with feeding issues, feeding tubes, medical conditions, anxiety. That is all a big plus, especially in a case like Zachary's.
Today was just getting to know all about Zach and his situation. Doug and I go back alone next week to discuss the "plan of action". I am very interested to hear what she thinks. We touched base on a lot of information and she said "there sure is a lot to his case, this is a very complicated case" No kidding -- that is why we are here.
To Doug and I this is more so just another opinion on our son. Also, hopefully, a way to learn more about coping with him and to help him learn to cope better with his issues. We talked a lot about his anxiety and his social communication issues, selective mutism, autism characteristics, his new voices, so many different things. Doug and I went in with a long list of what we wanted to discuss with her and I believe we were able to get threw 95% of it in 2 hours. I had a video I wanted to show her but we ran out of time. That is okay I'll remember for next week.
Zachary did well...he played with some toys as we talked and stayed to himself not interrupting us at all. He was able to speak with her at the very end of the appointment....to which she said "that is good, but I am unsure he realized he was talking with me"
I guess we just wait until next week....she is going to print off questioners to give to us and his teachers for more information on Zach. It should be rather interesting the next couple of weeks.
Monday, January 18, 2010
Normal (NEW) dose: Dose 300ml Rate 300ml/hr so in a full day he should receive 900ml of food via his pump - this is 100% of his daily calorie intake.
7:55am "off pump, tummy hurt"
160ml -- flushed 20ml H2O
9:15am BM slightly solid, with mush, with liquid
9:30am re-start pump
140ml -- flushed 20ml H2O
when asked how tummy feels "good"
Refused pump - ate banana
190ml -- flushed 20ml H2O
5:30pm BM mush with liquid soaked in diaper
REFUSED PUMP REST OF DAY
I was able to talk with his dietitian first thing this morning and we've decided to try changing things around a bit. Dose 300ml Rate 190ml/hr --- this now means his pump will be on for a little longer then 1 1/2 hours.
9:30am ran all 300ml --- by the end his tummy hurt but he was able to take it all.
Hopefully this will work or we will slow the rate more. He needs the dose...but we may have to adjust how he gets the full 900ml in a day.
We see the GI on Thursday and the dietitian said she is interested to see what his next step will be.
Sunday, January 17, 2010
Last night didn't prove any better. What Doug and I were hoping would be a full nights rest was not.
First we had really loud neighbors, but that wasn't too big of a deal. We could hear silent cries coming from Zach's room.
At 11:30pm Zach woke screaming - where he would normally stay in his bed he did not and walked up to me. I picked him up and tried to comfort him.....it did not work. He would not talk and his eyes would not open. It took me over 30 minutes to calm him.
He went back to bed - but not for long.....
He was up again a bit after 1am screaming again. Again it took another 1/2 hour for Doug to calm him. Same situation, Zach was nonverbal and non responsive to any attempt to calm him.
The boys then had a sleepover in Zach's room. Doug slept on the floor as that is what Zach wanted (to our surprise --- Zach has NEVER slept in a room with us EVER, he never liked it) I think it also helped Doug to know he was near Zachary -- just in case.
We've been awake since 6:30am -- but I'm happy to report that Zachary has been in a happy, talkative mood. That was until.......he got on his pump for a little while and then needed off saying his tummy hurt. He only received 160ml out of his 300ml he should be getting. I simply don't think this is a good dose for him and will talk with the doctor on Monday. Until then mommy and daddy will be adjusting it on our own to make him more comfortable.
Saturday, January 16, 2010
We have uppedZach's feeds to 300ml 3x a day ran over 300ml/hr (this is approximately 10oz of water and 7 scoops of his formula)-- this started out being a fine dose for him but as time has gone on (really only a week we've been trying to do this dose/rate) we are learning this is too much or too fast or both. I don't know, I'm just at my wits end trying to get all he needs into him since that really hasn't happened since school started.
Today his first feed went well....his second feed he fought me on....and well his 3rd feed never happened :(Since his second feed we've dealt with 1 diarrhea diaper and 1 episode of vomiting.
I'm starting to get really worried about his appointment on Thursday with the GI and what he is going to have to say about all of this. Especially considering the other day he had immediate diarrhea after the feed. I don't know what that means since this is kind of a new symptom with his pump feeds. Normally when his tummy isn't working right he just vomits everything.
Once again a curve ball is being sent our way. Yet another thing we will help Zach to overcome. Trial and Error Trial and Error we will get there I just know it. We have to for his sake and ours!
I was able to get a hold of medical records at our children's clinic (where the majority of his doctors are located) - we faxed back the release form and will have all of that in hand (10 docs from there worth) on Tuesday.
I could not reach one clinic that he sees 3 doctors at but was able to leave a message I will try again on Monday in hopes of having those records in my hand on Tuesday as well.
All the 10 pages of forms from the doctor in Atlanta are filled out and gone over with a fine tooth comb to make sure we didn't leave anything out.My hopes are that come Tuesday afternoon I will be up at the post office or UPS sending all of this overnight. First though we will be making our own copies to keep - simply to be on the safe side and in case we need to go threw this again we will have one year worth of records from everyone he sees. I already have a 2 giant 3 ring binders filled with information - but what I was keeping isn't all they needed :(
I have to admit it is a tad disheartening that all these places are charging us to get his records :( BUT it is well worth the money spent for peace of mind and since none of these doctors have figured out what is wrong with him, hopefully the one in Atlanta will know or lead us in a better direction. I sure hope we are up in Atlanta in the blink of an eye.
Hopefully I'll have more of an update soon!!!
Thursday, January 14, 2010
So far no new news on Atlanta. Hopefully SOON!!!
Wednesday, January 13, 2010
So the bad first....Zachary's test was miserable! This is the first time EVER he did not shut completely down during a test. Instead he cried and cried and screamed and screamed. He started to turn blue and shake a bit but this was not a seizure like we've seen in the past, at least I don't think it was. I blew on Zach's back to calm him, but that didn't really work. Seeing him this way really was a toss up....but I'm thinking I prefer the total body shut downs opposed to this.
The test results....12 pricks and only 2 positives. Milk even though this child has avoided it like the plague came back worse then it ever has :( not a good sign. For the first time ever on a skin prick eggs also came back positive :( Everything else was fine. We talked about the patch test he had done in April 2009 and the results and how they differ from the prick test. He will not put Zach threw another patch test for a year from the first one and he is thinking lets avoid doing the patch test all together - considering that Zachary reacts to every food that goes into his system anyway, there is just no sense in making him suffer threw another 72 hour test - at this point.
The bad....I had an hour long talk about Zach and his situation right now. Dr J is also thinking we are onto something checking for mito with Zachary.....so much so..........
It brings me to the good....He actually called the doctor up in Atlanta while I was there to see what he can do to speed up getting us up there to see him WOW - that just blew me away, here is this doctor who cares so much about my son........which brings me back to....
The bad....only ones who can move this forward are myself and Zach's pediatrician....
The good....she and I both are doing all we can to get us up there as soon as possible.
More news to follow as it comes in :)
Tuesday, January 12, 2010
Today Zach is headed to the allergist for some testing. Let's hope it brings positive information so that we don't have to put him threw a second 72 hour patch test again.
After the allergy appointment he has ST and OT as normal.
I'll get back with an update eventually. As for right now I have some doctors to call.....
Thursday, January 7, 2010
As promised I have a small update from the phone calls that were made today.
First call: Kristin, Zach's dietitian. She was able to speak with Zach's GI about his case. Dr E wants to see Zach back sooner rather then later but wants his allergist to run the allergy testing first. After that is done he wants to see Zach and discuss more biopsies.
Second call: The Allergist. Zach's appointment for testing was April 13th - as soon as I said the testing depending on the GI doing more of his own testing Zach's appointment quickly got moved to this coming Tuesday January 12th. The only down side is that this will be a skin prick test....the only positives that have come from that test are Milk and Soy. If the test does not show more positives we will go back the next week for another patch test. This is BAD BAD BAD for Zachary...the last patch test brought a lot of shut downs and no movement for 72 hours.
Third call: The Insurance Company. I need to find out if a doctor from out of state is on our plan. His website claims he is. When I called the first time they couldn't find him....
Fourth call: Medical Neurogenetics (this is the out of state doctor I referred to) - Dr Shoffner's office to find out his tax id.
Fifth call: Insurance Company -- good thing I called because with our luck he is NOT on our plan (does except the same insurance company just not our plan). However, I found out that our pediatrician can call and ask for a "Gap Exception" this will allow us to still see the doctor we need to see and only pay our in network payments. PLEASE if anyone is listening let this happen as I have no clue how we will pay without this miracle.
Sixth call: The Pediatrician. Of course this call was to make sure she will call and ask for the "Gap Exception" too bad she wasn't in her office so I'm waiting on a call back from her this afternoon. I have no doubt in my mind she will be doing this for us as she believes this is the next step to take in finding answers.
FYI Dr Shoffner was referred to me by a woman named Emmy (I posted about her a while back) She really motivated me to take this to another level. Here is one of the links she passed onto me http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042177/k.D869/fontfont.htm
This is not to say this is what Zach has as we do not know. His geneticist has mentioned testing for it in the past but didn't because it was right after his g-tube was placed and wanted to give him a break. During my conversation with Emmy she made me think really hard about this and the right steps to take - Zach would be able to get tested here but Dr Shoffner is the best option - especially hearing Ana's story of being tested 2x once negative results and then again with a fresh biopsy (Dr. Shoffner is one of only 2 in the country that can do this) and that biopsy coming back positive. Ana was 4 when she finally got a diagnosis - Emmy knows exactly what I am going threw not knowing. After speaking with Emmy that day and seeing the possible symptom list and noting that he has more then 3 systems involved (he actually as 5 involved). I think it is high time they test and either confirm or rule out a mito disorder. I'm just hoping we will find away this all works out...if our insurance won't grant us the "Gap Exception" this will be a very long hard journey on us as far as having the money for all of the appointments.
I'm off to start the paperwork that needs to be done in order to do what we have to do for answers. Momma Bear is ready for this!
I've never been so happy that a week is coming to a close. I think there were just too many reminders of things going on this week and it made it all very hard to take in.
Yesterday Zach had a pretty good OT session. Ms. Jerry and I were able to go over some more strategies for Zach and to really talk over his 6 month review on his care plan.
I think what upset me about his care plan isn't that he still has one but that it is just a reminder of his issues. Sometimes it is rather hard to see where we came from and the improvements that HAVE happened.
The first section of his care plan is Current Level of Function -- that is where it all starts, that is for me the hardest part to read. It is a constant reminder of him not being where he needs to be. I am going to be brave and for the first time type up word for word what this one says...
This is a 6 month update since Zach's re-assessment in June. He continues to exhibit mild fine motor delays and sever motor planning difficulties (dyspraxia). In addition, he is having moderate to sever social-emotional issues and sensory issues at home and at school. He suffers from sensory overloads many days after school. During school he refuses to interact with the other children or engage in interactive play. He is very sensitive to the other children/adults remarking about him being "different". His self esteem and self confidence is suffering. His teachers have followed threw with only part of the recommendations made for helping meet his sensory needs. Zachary continues to need sensory strategies to help him stay at the just right level of alertness for learning and to help him deal with sensory overload. He continues to need a familiar "pal" of a familiar adult to be his buddy in new situations at school and help learning new motor activities. His family is also exploring visual aids (aac) to help him with communication when he is experiencing sensory or social "shut down".
Okay while I'm at it (and this feels good to let it all out) I'll move on to his Progress to Date -- this has its ups and downs for me a good aid for what he can do but again still points to a lot of what he can't do yet......
Zachary met goal#1 and is now crossing the midline of his body spontaneously with minimal displacement during gross and fine motor activities. He partially met goal#2 and can use scissors correctly to cut along an 8 inch line within one half inch accuracy, but needs min. asst. to hold the paper. He met goal#3 of increasing participation in swinging activities on the playground and does this at 90% accuracy. He did not meet goal #4. He colors a three inch shape, but is not staying within 1/4 of the boundary. He can stay within 2" of the boundary. He is not yet stabilizing his arm on the table surface for drawing activities which reduces his accuracy. This goal will be retained. He also did not meet his goal for using age appropriate writing/drawing precision 50% of the time. He continues to use a fisted grip, but will retain a fingertip grip for a short while after help to place his hand on correctly. Zach has made significant progress in visual tracking. Shortly after his last re-assessment, he went for an eye exam. He received glasses for an astigmatism. His excessive eye blinking, eye rubbing has decreased significantly. He will occasionally exhibit it when he has had unfamiliar visual stimulation during the day (new places, people, ect). He is tracking in vertical and horizontal patterns. Goal will be retained to increase accuracy especially in circular tracking. He met goal #7, responding when his name is called 90% of the time during therapy sessions. He partially met goal #8. He will complete play activities alone or with a family member or clinician. However, he will not play with peers yet. He will parallel play with familiar peers. He partially met goal #9 and can follow a 2 step direction with 75% accuracy. However, he cannot repeat the direction, possibly due to language difficulties. He partially met goal #10, and is tolerating some bumps and touches at school. However, he is extremely guarded about other children being in his space, and interprets many minor touches as "owies". He does tolerate riding the bus to and from school.
Next comes Rehabilitation Potential --- his is good (and that is a large plus in my book) most time she doesn't comment here and this time she did saying.....
Zachary continues to need skilled occupational therapy to assist him in participating in age appropriate occupations at home, school, and in the community secondary to motor dyspraxia and to a sever sensory processing disorder.
If you've made it this far reading I thank you from the bottom of my heart!
Time to make some calls to the doctors....I'll update with that later.
Wednesday, January 6, 2010
Please feel free to take a look http://www.caringbridge.org/visit/zacharyszilagyi
I know right now I'll be doing a lot of cross posting over there.
Monday started with getting ready for school....we sure weren't ready for that cold weather we've been getting (yuck). As if that weren't enough I still had to change Zach's day around by picking him up at school for his first appointment of the new year.
First stop, to see Ms. Kristin, Zach's dietitian. I was really worried about how he was growing because he hasn't been getting all his feeds in. WELL....he surprised me and was doing well. He gained a bit of weight 2 whole pounds YAHOO but his height stayed steady - this is okay for now. Kristin was a bit taken back by Zach's new issues as we were in her office and seemed to grow quite concerned with it. As he wasn't talking and when he did decide to share his voice it was his hands talking in different voices. We spent a good hour talking about what was happening. Kristin reassured me we were doing the right thing getting a psychological evaluation done, and told me what a great person the doctor is that we will be seeing. I also found out that they have weekly meetings (the GI department and the psychology department) Kristin will be informed of his progress and what we need to do as a feeding team. Kristin certainly put my mind at ease about all this new stuff going on, she is really a wonderful person!
Next step was home to get Zoe and onto speech......OH BOY was that a total disaster! Since his SLP is still kind of new to us and Zach is still new to her - let's just say it wasn't his best session ever. With Zach's SPD being so bad....his SLP just wasn't getting it. As much as I was saying "we better stop he is going into an overload" she kept letting him go. I was so very frustrated. He hardly did any ST because he was too busy with the sand and then the play-doh -- it all sent him for the biggest loop I have seen in a long time!
When that was all said and done I had to stop at the grocery store. What a mistake that was! Zachary screamed the entire time we were in the store. I've never endured so many awful looks and comments in my life. No matter what I was doing to try and calm him it wasn't working. By the time we got home he was nonverbal and finally at one point asked "I doh do bed now?" Poor little man was totally ready to shut down (it was only 6pm).
Tuesday morning was yet a different routine all over, which once again sent Zach into a tail spin...
We had to wake up early and get to the dentist before school. All went pretty well at the dentist. Zach went into complete shut down mode -- no talking (not even to me) and no moving. As he was laying in the chair getting his teeth cleaned he looked like this little mannequin. Sometimes I simply don't know what to think - sometimes I'm happy he gets that way and other times it just hurts so bad to watch him be that way. His hygienist (he only sees her - Amy) is an amazing person she is so kind to him and you can tell he remembers her each time we go. However, I hate hearing "he is doing so well! you should see the majority of the 3 year olds who come in here" I know he is doing better then a screaming child -- but he is doing that well because he has completely left his own body --- I'm starting to wonder if that is really doing well or if it is really doing worse.
Zach was excited to get to school and somewhat back into what he knows as his normal routine.
When he got home it was off to therapy. He had ST first and did slightly better then the day before. BUT not by too much. He did a lot of saying "I no no" when he didn't want to answer. He did a lot of NO eye contact and a lot of only doing what he wanted to do. I wish Ms. Andrea would be a little harder on him and not let him rule the session.
After that it was OT time and boy was he happy to be back with Ms. Jerry! As soon as he saw her it was BIG hugs for her. She had written up his 6 month report...which made me a little sad. I don't have a copy yet because we decided to add some more to it. When I do I'll post more on what has me upset. Funny you take all these steps forward but somehow we always manage to take just as many or more backwards - HUMPH!
Today is the first day of getting back on Zach's normal routine....I hope it is going well at school ;-)
Monday, January 4, 2010
Kids are back to school, husband is back to work, the house is quiet as Otis and I get some rest to gather our sanity at least for a couple hours today.
Today is Zach's first appointment of the new year (his dietitian). To be honest I'm really not looking forward to taking him in. Since school started his feeding schedule has varied so much that most times he wasn't getting all he needed in. The fits were many, he was sick, the refusal to feed on his pump was there, the tears were there, the screams were there....it has just been rough! Over break I was able to try to change things around for him in hopes of making it easier now that he is in school -- a schedule that he will be able to keep in or out of school, something that I hope will work for all of us. He is such a stickler with his schedule and how things work. I have to admit I'm a bit worried to see where his weight is, my fingers are crossed he has at least maintained.
Zach also gets back on his therapy schedule again today.........2 weeks off really sends the little man for a loop. I was talking with him this morning and said we get to go see Miss Andrea today and his smile lit up the whole room with a "I dit dee Miss Andrea!" and a giggle.
Let's hope that going back to school and the appointment and the therapy all do him some good today and don't throw him too far off the edge.....I really don't want a crabby, non talking child this afternoon.
Friday, January 1, 2010
January is shaping up to be a busy month for the little man...
Starting on the 4th for a check in with his dietitian.....and she isn't going to be happy. It has been rather hard since he started school dealing with his feeds and getting all he needs into him. This break has helped a ton because I have been able to up his dose into 3 feeds not 4 and still run them at an hour or a little longer. This is HUGE....meaning his little tummy is tolerating more volume.
The 5th both kids have their 6 month check with the dentist. It is never a great time for Zachary, but if you recall last appointment went better then I thought with little along the lines of a shut down. Fingers crossed Tuesday goes as smoothly.
We are adding a new doctor to our list this month a child psychologist. Zach's first appointment is the 19th and I am excited to hear her take on my little man and his situation. I've been very quiet about what has been going on with him because I'm worried and a bit taken back by it all. There have been lots in his life that seem so overwhelming to me and for some reason this is at the top for me. It isn't everyday you hear of a 3 year old going for a psychological evaluation. As I've been reminded by some.....we don't know that anything is psychologically wrong with him, but from what I've been seeing so much more of I would venture to say there is and I can not ignore what is happening.
We also have to get back on schedule with school and therapy -- this is never an easy task for Zach to get used to.
I was also very fortunate to have a lovely lady pop into my life.....you know I feel like things just happen for a reason and some people are able to really point you in another direction. This woman is a truly AMAZING mother and person....she is an angel walking on Earth. It was because of My Button Buddies that she called and the conversation went from the pads to diagnosis of our children. I learned about her daughter, Ana and their families journey to find answers. Here is her blog for those of you interested in reading http://www.helpcureanamaria.com/ By meeting (well, over the phone Emmy) I learned a lot and was able to pass more information on to Zachary's pediatrician....Please hope and pray Zachary is able to get into the doctor that Emmy told me about....Maybe 2010 will bring some answers for Little Zachary!