Thursday, September 29, 2011

Geneticist and Neurologist

Today was a day from hell. The morning at home started out rough with a lot of issues. We got out of the door 20 minutes late. Eli ended up missing all of OT. I dropped Eli and his nurse off at therapy and I ran to CMH to pick up some medical records. Eli had PT and ST. I got all of his papers and showed back up for the end of PT. We had to immediately leave following for his appt. with the geneticist /neurologist who specializes with Mitochondrial Disease.
We met with the genetic counselor for over 1 hr. She went thru a lot of history. Then the doctor came in and spent over an hr going thru all of his end. He talked alot about Eli's significant clinical history. He praised how good of a job Bob and I have done. He was amazed at how well Eli looks compared to what he expected from Eli's clinical history, tests, and diagnosis! We discussed alot about Mito and his thoughts on Eli. He believes there is still a significant piece of the puzzle left to find. He has a feeling he MAY know what that is but the road to testing won't be fast or easy. He does believe that Eli has a neurodegenerative genetic disorder, as well as a chromosomal issue. He ran some tests today(alot of chromosomal tests) and is working on getting the final test done. He says no matter what the FINAL diagnosis/outcome is there is NO cure and that we are currently doing everything he believes that we should be doing treatment wise. Once he has the final piece of the puzzle he will be able to give a better idea to what we should be expecting and may possibly see and a possible prognosis. Not conversations we are looking forward to having.
He also discussed Eli's growth hormone and the increase in apnea issues. He does not believe they are linked. He believes the increase in apnea is simply because Eli's disease is progressing which is resulting in more problems with his central mixed sleep apnea. So the good news is he believes that the growth hormone injections are very important and that we should continue, the bad news is again this horrible disease is progressing.
There was brief discussion of how well Eli did on TPN, and how he wasn't surprised int he least. This is unfortunately/fortunately an issue that is currently no open for discussion since Eli has a blood clotting disorder and has already had active clots, and still has the calcified leason in his heart.
After this Eli had all of his lab work and we headed to his main neurologist. He said Eli's keppra levels looked much better and that since we haven't been seeing any seizure activity that he wants to stay at this same dose for now. He was also encouraged that his legs have improved some. There isn't quite as much tightness on one side, with looseness on the other. His hips are definitely still struggling as are his knees and ankles but improvement on the mixed tone. He is happy with the progress he is seeing, and so are we!
Eli didn't get much in the way of sleep at all today. We left the house at 8am and didn't get home until after 3. Considering his day he did well, but boy is he exhausted. His temp is up, his blood sugar is down, his little cheeks are bright red, and his extremities are moddled. Fun times!
I will update more in the next few days.
Thank you to everyone for the prayers and kind thoughts today!!!

Tuesday, September 27, 2011

Last week ended fairly quietly. Eli had therapy and just laid low at home resting. We got all of his new equipment started, which has been way more of an adjustment than expected.
This weekend we spent time together as a family relaxing. We went to the park on saturday. We spent over 2 hrs there. It was great! The park is huge with walking paths and lakes and tons of areas to explore, as well as the playgrounds. Eli loved being outdoors.
We watched some movies, I worked on some quilting and we just hung out. The kids played alot of Wii. Ben is currently addicted to it.
Monday brought a few appts, as well as Eli's therapy. He worked a bit with the ipad, and his in home physical therapist brought him a gait trainer to use here at home until his comes in.
These next few days bring multiple appts. The most important being the Mito doc here in KC, on Thursday. This is the doctor that we came to see in January. This is when Eli crashed at the Ronald McDonald house and ended up being rushed by ambulance to CMH. We are finally going to be seeing him this Thursday. I'm nervous and excited. Eli really needs someone local on his team who truely gets mito.

Emily ~ She is doing well. Enjoying choir and violin. She was voted by her class to be in student counsel and has her 1st mtg today. She's enjoying school and is making some friends. A little girl from her class called yesterday and asked if Emily wants to get together later this week. She's also received her first book for her book club and is excited for their first mtg in Oct.

Jace ~ Jace is ok. He's on another medication adjustment right now and hopefully it will see more benefit. He's still on a food strike and has lost a substantial amount of weight. He and I meet with his doctor today to find out what next. His GI system is doing much better with the change of if only we could get him to eat enough. He also has his 1st book for book club and will have his 1st mtg in Oct as well. School has gotten his IEP in place and he is working with speech twice a week, and enjoying working with his new speech therapist.

Ben ~ Ben is a mess. When he's on his new med he's a mess at school and decent at home. Now that his doc is weaning him off of it, because of the school's complaints, he's a mess at home. Unsure yet how he is doing at school. We will be calling the doc to find out what next. We also have his IEP mtg tomorrow so we will get more info as well. Ben's current addiction is the Wii, specifically the game lumberjacks. He wants to play from sun up to sun down. It's been a challenge. He's eating decently and is at least maintaining his weight right now.

Ari ~ She's loving school. She's such a social girl and is really enjoying making friends and being around so many kids her age. She's hit or miss with the food, and is doing a baseline job of maintaining her weight.

Bob and I ~ same, same. Just keeping up with the house, and the 4 olders, and Mr Eli. This week begins our family sign language classes at the Kansas School for the Deaf. Everyone but Ari and Eli gets to go an participate. We are excited to get to learn more and meet more families.

I will get pictures up later today from the weekend. Currently blogger photo upload is a mess.

Friday, September 23, 2011

Yet Another

It is with a heavy heart that I have to send my thoughts and prayers to yet ANOTHER family this week. May you be flying with the angels and chasing butterflies Mason! Again, THIS is why we are trying SO HARD to raise awareness about this disease. that's 3 children(Robert, Eva, Mason) lost in 4 DAYS...

Thursday, September 22, 2011

Song and Quote

What a day so far. Eli had therapy this morning, OT and PT. He did decent at OT, exploring some new textures and working with some grasping skills. Also alot of hand/eye coordination work. Then he headed over to PT. She stood him up behind a walker and he walked halfway across the room!!! By the time he got to the other side he was exhausted and his little legs were shaking and he just toppled over.

Afterwards I needed to run to Green Acres for Eli's probiotics. Eli was in his wheelchair and had his tray with his toys attached. A little girl was drawn to him and spent some time playing with him. We got to chatting with her mom. She asked us about Eli and his diagnosis. We chatted openly about Mitochondrial disease and how it affects our little man. We chatted with her about it being awareness week and how there is so little awareness about Mito. We gave her one of Eli's cards. Come to find out she is a TV producer and has done some work with Discovery Health and such. I was shocked. I hope that meeting our little man will plant that thought in her mind to go out and learn about Mito and to help spread awareness as well. Heavens knows that a disease like this needs awareness!! As we got into the van my phone dinged. It was an email that a dear friend of our had posted a video with us tagged. I sat in the parking lot, listening...crying.

I was again reminded how blessed we are. My little man is such a warrior, if only we could be as strong as him.

Upon getting home I saw a quote a friend had posted. It made my heart flutter.

I will share the quote and song here, as maybe it will do the same for others.

"Some people never meet their heros, I gave birth to mine."

Wednesday, September 21, 2011


This morning Eli woke up really croupy and raspy/wheezy.  Called his doc and they had us bring him in.  After a warm bath and all of that he was breathing much better.  Doc did a full check over and wanted to chat.  Never a great sign.  He had seen the sleep study results.  He was concerned about Eli beginning to gag more again.  He decided to increase his robanol (the med that helps lower Eli's secretions).  He discussed his concerns about the dosing we are already on.  He's concerned that much more and it will thicken his secretions so much that he won't be able to cough them up (Eli is a weak cougher.  Takes alot of work).  The problem with not increasing it though is he's having more secretions again that he is choking on.  Hard to make a full choice.  He also informed us that Eli has restless leg syndrome and that the severity of it made them think that he is struggling with anemia again and low feretin levels.   He is also concerned that the growth hormone is causing eli's sleep apnea to get considerably worse, something that they knew could possibly happen.  He suggested we speak with the pulmonologist.
We left and within a few the pulmonologist/sleep study doc was calling me.  We spoke for 20ish minutes.  Apparently the sleep study came back with alot of issues.  Eli had alot of central mixed sleep apnea, worse than on previous sleep studies.  He also had alot of leg movement, 38 an hr on average, leading to a restless leg syndrome diagnosis.  He believes it's an anemia/feretin issue and has placed blood draw orders and will most likely be ordering iron supplements.  He is placing Eli on BiPAP and O2 bled into the line.  He is also placing a high end rescue level on the BiPAP to help push Eli when he isn't able to sufficiently breath.  He's placing Eli on a special apnea monitor that also does heartrate and O2 levels.  He is adding flonase spray to help open the nasal passages before starting the BiPAP each night.  He agrees with the robanol increase and is concerned we may have to push farther on it.  He's concerned if Eli isn't dry enough that the BiPAP will push fluids down into his lungs.  He warned that we are fighting an uphill battle.
Eli's seizure meds cause a depressed respiratory status.  His seizures do as well.  So do the growth hormones.  And so can mito.  Not to mention his central mixed sleep apnea, reactive airway disorder, and in general permanent lung damage from all the other shit his poor little lungs have had to endure.  He's simply hoping to get Eli out of the critical point where he is now of dropping his sats 2 to 4 dozen times a night, to where Eli can get a bit more too.
It has come up now multiple times that we may need to discontinue some of Eli's treatments and interventions because they are making other things so much worse.  There are many dangers to stopping the other treatments BUT we have to protect the primary life function of his lungs.  None of Eli's doctors seem to be sure what the right choice is here.

I want to hate them.  I want to scream at them.  I want to demand 3rd and 4th and 5th opinions.  I want to tell them how stupid they are and how they don't know anything and how I want a doctor that knows more than they do.  I want to berate them for not coming up with a solution.  For not treating Eli until he's all better.  I was complaining in the angry that all of the doctors are giving up.  I want to push them until they figure it out, until they fix the problem.
Halfway home it hit me.  There is no fixing it.  These aren't stupid doctors.  Eli's pulmonologist/sleep study doc has been practicing since 1972, he is the head of the pulmonology AND sleep studies dept at our childrens hospital.  He is brilliant.  He truely cares about his patients and is trying everything he knows to try.  Most of Eli's doctors are the same.  Eli sees mostly dept heads.   These are amazing docs.  It's not their fault.  It's nobody's fault.  For the first time it truely hit me that it's not that we are seeing bad doctors, or that they are refusing to help my son, or that they don't want to spend the time trying to help him, it's that they can't.  They can't fix my little boy.  He has a horrible horrible disease.  A disease that is robbing my little man of his entire being.  It's stealing everything from him, from us.  This is killing me as a mother.  It's horrible.  Words can't describe the crushing feeling I felt inside when it finally came to me that it's not for lack of a better doctor.  It's not fair.  It's not how life should be.  My little mans disease is progressing and there is nothing that I can do, nothing that bob can do, nothing that my kids can do, nothing that the doctors can do.  Nothing.

Tuesday, September 20, 2011

Alot of Updates with Pictures!!

Last week was a busy emotional blur.  We spent most of the week rushing around getting ready for the walk.  We made 40 something shirts, we made 40 something crocheted flower pins, we cleaned house, planned menus, grocery shopped, and kept up with all of the appts and meetings and such.
Eli had a decent week.  He was tired alot and had alot of O2 issues.  We were up alot messing with his CPAP and O2.  He ran low grade fevers alot, and had alot of temperature control issues with the goofy weather changes.
Friday evening our family and friends got into town.  We had a full house.
Saturday morning started early and we were at the walk by 8am.  It was amazing.  It was so awesome seeing other families and people effected by Mito. We met alot of great people and exchanged contact info!  It was just so surreal for me.
Our family and friends left on Sunday and we spent the rest of the day relaxing.
This week has been busy as well.
Ari started preschool yesterday.  She goes 5 afternoons a week for 3 hrs each day.  She had alot of fun and has already made some new friends.
Ben has been a mess.  His teacher is struggling with him in class, and we are having many of the same issues at home.  He and I met with the nutritionist and she's out of ideas.  he's being referred over to a feeding therapy team.  He also seems to be struggling with the medication change and we are all unsure what to do.  We are keeping in close contact with his doctors.
Jace is doing ok.  His meds are being slowly increased and he's done well with that but we still don't seem to be at the perfect mix.  He's enjoying school and has made some friends.  When he's not at school he's super busy at home with friends in the neighborhood.
Emily has been beyond busy.  She's in choir twice a week, strings (violin) twice a week, math club once a week, AND she was voted into Student Counsel by her class.  Top all of that with homework and violin practice and the book club she's participating in, she's always on the go!  She is enjoying it though and we are beyond happy about that.

Food.  We are doing well.  It's been such a huge change for our family.  We have been vegetarian for 3 months, and Vegan and Gluten free for almost 7 weeks.  We have found so many great recipes, and have been able to replace almost all of our favorite foods!  It's been quite the learning process for all of us, and we have all really had to step out of our comfort zone!  As most of you know this isn't the only household change we have made.  We are still going strong on cleaning supplies, no paper products, no disposable containers, etc..  We are super happy with the changes that we have made!

Bob and I are doing ok.  Life is hectic.  Like always it takes everything we have to keep going thru each day.  We struggle finding the balance of time, and rarely succeed with it.

Eli.. Eli is Eli.  It's always something.  He's still struggling with his O2 at night.  He alarmed over 2 dozen times last night.  He's still been running his low grades.  He's had a bit of a struggle with his change in feeds.  His Keppra (seizure meds) levels were barely within normal limits so his doc has again upped his meds.  I got a call today from our DME saying that they needed to bring out Eli's new BiPAP and get all of that set up.  I knew nothing about this.  Apparently his sleep study came back.  They thought that Eli was on O2 during the day as well.  I said no.  She said I needed to call his pulmonologist/sleep study doc immediately tomorrow morning.  I have no idea what is going on.  Eli has alot of appts coming up.  We meet with his neurologist, pulmonologist, opthamologist, his new AFO's come in, nutritionist, his main doc to discuss his anticoagulation precautions, and he meets with his wheelchair DME and PT to get his stander and gait trainer ordered.  It's alot going on and it's a struggle to keep up with it all.  It's so hard to see the progressive disease, progressing.  It happens so fast something and it's so hard to deal with.  They tell you it can happen, but when it's just almost to much to bear.

this week is mitochondrial disease awareness week.  Our oldest 4 have been amazing for mito week.  They wore their team Eli tshirts on monday with their pins.  They also had a pocket full of Eli info cards to pass out.  All their own ideas.  We have all worn our Eli pins each day, and will continue to for the rest of the week!  I would like to share some things that have meant alot to me!
Mitochondrial Disease: Cunning, Baffling, and Insidious. Like any disease without a cure, it robs, it steals, and it ruins lives. It takes our infants from us, before we can even hold them. It puts too many angels in the grave, before they can even grow up. It robs a grandparent from being able to hold their grandchild. Mito robs a mother or father from being able to raise their children. Please make awareness, so that our world, realizes that we are not invisible any longer. ♥ WE NEED A CURE
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy.
As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death
will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.
The real cost of mitochondrial disease is not in money, or time spent in the dr offices. The cost is in the little ones that don't live to see their next birthday. The adult that has a stroke & can never hold their child again. The teen that has dreams to be married w/ a family someday & watches those dreams slip away through a hospital window. Mito doesn't care if you are male/female, race, age, or wealth. It will take you life. Please help us search for a cure!
In closing I will post a few pics from the last few!
Our team tshirts all finished!

my little man during a bad day of temp regulation

same as above.  just face closeup because i'm addicted to his little face!  :)

a team picture.  sorry for the glare.  it was that time of day. 

my little man at the mito walk looking beyond adorable!

eli with his poster at the mito walk

our front door decorated for mito awareness week.  and yes our porch light is green too!

Ari on her first day of preschool

one of our dinner ingredients (minus carrots, pecans and raisins)  turned out super yummy and colorful!

Eli with his brand new tubie baby.  He's laughing in this picture!  i love his laugh face.

Monday, September 12, 2011

Precautions and Discrimination

It's been a busy week.  It takes everything I have in me to stay going and to slightly keep up.  Blogging has fallen to the wayside a bit because of life. 

Last week Eli had PT at his new therapy center.  He again worked with the gait trainer, then tried out the treadmill.  She also showed us a stander that she is wanting to try out with him as well.  His PT called insurance and his wheelchair DME and they will be meeting us at therapy in 2 wks to get a gait trainer and stander ordered for him. 
On Wednesday I also played phone tag with Eli's main doctor.  Insurance again denied 2 of Eli's meds, so we were originally going to do them as shots if this occured.  So I called the doc to get that done.  He finally calls me back with unexpected information.  They have decided in light of Eli's history, and his blood clots, and the mito, and the factor V leiden, that they are placing Eli on anticoagulation precautions.  The doctor informed me that every single time we give Eli a shot we are increasing his risk of developing a blood clot.  He's not comfortable giving any more shots.  This changes so many of Eli's protocols.  He is meeting with Eli's hematologist to work out the best and safest plan.  We weren't told that they were concerned about this and that it was something that would just be monitored.  They apparently have come across more info in all of his testing and labs that tells them otherwise.

On Thursday Eli had OT/PT/ST.  It was a mess.  They had wanted Eli to go to their group therapy sessions . They wanted him to go 5 days a week for 2 1/2 hrs a day.  It's like a preschool type program.  We were leary.  They told us on Thursday that they didn't want his nurse in the room with him and just wanted her to hang somewhere in the building for if he had problems.  They also didn't want him on his feeding pump because it is to much of a liability for them they claim.  They are afraid one of the other kids will pull it out.  They said during class they want him to be a normal kid and therefore don't want all of his equipment or medical interventions or nurses.  This really bothered me.  It to me was really discriminatory.  Secondly it really hurt me.  I want my little man to be like a "normal" boy too, BUT he isn't.  If you take all the medical interventions and equipment away from my little man you no longer have my little man.  They are apart of Eli and these interventions have helped keep my little man alive, and have allowed him to live the life that he is living.  This was our first time that it has truely hit me in the face that my little man won't be able to live a normal life, interacting with normal kids in a normal environment.  It was rough.  (as a side note we turned them down and will NOT be sending Eli there...obviously!)

On Friday we went to Eli's first ASL playgroup.  He did great.  Ari enjoyed herself as well.  It was definitely overwhelming to try and keep up with all of the signing and trying to remember everything I have learned so far.  But we did well.  Can't wait until our next one!

The weekend we stayed around the house as a family.  We worked on Eli's shirts and buttons for the walk.  So far we are up to 28 people on our team and more are going to be joining us on Thursday.  We are super excited and looking forward to this weekend. 

This week we have quite a bit going on.  Eli is going to get refitted for glasses, get fitted for his new AFO's, have 6 therapy sessions, 2 nurses, 3 doctors appts, and 1 lab draw.  Emily has violin twice, and choir twice.  Jace has book club and boy scouts.  Ben also has boy scouts.  Ari has a quiet week.  Bob and I just run in circles trying to keep it all going!

I will take lots of pictures this weekend at the walk and get it all updated soon!

Tuesday, September 6, 2011

playing catch up

Behind like always.  We went out of town for the holiday weekend.  We were gone thursday afternoon until monday afternoon.  It was nice to get away for a few days.  I got to go to my knitting group and hang out with everyone.  We got to do some shopping and spent time with the kiddos.  Bob and I got to go on a date night and really enjoyed the time alone.  We got to visit with some friends and really enjoyed reconnecting with everyone. 
We took it easy monday evening and hit the ground running this morning.  Little man woke up and his nurse was disconnecting him from his feed, when she called me over.  Eli's GJ tube had broken.  I immediately called IR and we had to head up to the hospital.  They replaced it and said that they had multiple tubes break in the same place lately.  I immediately went from the hospital to Ben's IEP meeting.  We agreed to a month long IEP while they get his re-evaluation finished up.  We are also going to work towards getting a full health plan in place.  I was able to come home for a bit then it was back out again.  Ari had her in school evaluation.  We met with the main child development worker, speech pathologist and occupational therapist.  She will have her in home meeting with all of them on thursday and then we will have the full assessment meeting at the end of the month.  Ari is really hoping to be able to start PreK soon.  Then it was back home and a touch of down time before picking up the kiddos from school.  Then Eli's ASL tutor came.  She normally comes on Tuesday morning but since we had to go to the hospital she was able to change to this afternoon.  Today we learned some more basic communication signs, as well as our days of the week, and how to sign the ABC's song!  Eli is really enjoy the ABC's song.
On top of all of this I have a sick husband.  He seems to have caught my cold and is coughing so much he is light headed and simply not feeling well.  Fun times.

Today on facebook it gave me the whole 1 year ago today post.  Wow.  I year ago today Eli was in the PICU with his 1st round of pertussis.  We had learned to suction and use O2 at high levels, we had learned advanced life support and how to keep him always positioned upright, keep his airway open, and how to use an ambu bag.  1 year ago today we went and picked up Ambu bags for his bedroom and the play area in our home.  1 year later Eli still has an ambu bag hanging next to an O2 tank in each room he is in primarily.  It's such a strange thought to think about this.  It's something you never expect to see in your home.  Heck it's something that most see in a hospital and don't even realize that they see it.  Yet here it sits right next to his push toy and bookshelf.  I have those moments where it just hits me that this really is my life, and today was again one of those moments. 
More in the next day or two.  Promise.

Thursday, September 1, 2011

Quick Week to Date Overview

It's been a fairly busy week.
Monday ~ Little man had his in home speech and signing.  He did decent, but was exhausted so didn't learn a lot of new things.  We however learned all of our color signs.  Ari had her hearing tests in the afternoon.  She passed all of them!  We were super relieved about that.  Emily had her first day in strings.  She was super excited.  They didn't do much on monday, apparently most of the kids didn't have their instruments yet.  Emily can't wait to get started with the violin.  After school we met with Ben's new case managers and went over alot of his information and paperwork, preparing for his IEP mtg.  We are really impressed with his managers here!

Tuesday ~ Eli had his in home ASL (signing) tutor.  We learned alot.  We learned all about basic beginning and ending conversation when we meet new people.  Then we had Ben's IEP mtg.  Alot of good information and a decent base plan in place.  There are definitely still some concerns and everyone is working on a good plan to put in place.  One of the biggest concerns is Ben's eating and drinking.  He has lost over 2 lbs since starting school, as he is basically refusing to eat.  He's been drinking maybe 5 or 6 sips of water a day.  Everyone is working hard to get this all resolved.  Later in the afternoon Eli had his 1st appt with the muscle and nerve clinic.  We were super impressed with the doctor.  He believes that it's mitochondrial myopathy.  He believes that the seizures are causing a large part of the issue and that it's simply neurological degeneration ( his word not mine, because I don't like words like that).  He's like, "obviously as you know with mitochondrial disease the brain alot of times will begin a degeneration process, and we are obviously seeing that with eli."  Like always I just wanted to scream at him to stop saying those things.  Those are the kind of statements that bother me the most.  Back to point...He doesn't believe that botox, or casting, or surgeries are the best choice for Eli right now (neither do we), because he believes at this point none of them will help him to walk.  He ordered a soft side helmet to help protect his head.  When Eli gets tired he falls over frequently.  The goal is to protect his head the best we can.  We will continue to follow with him in clinic.

Wednesday ~ Eli had his PT.  He did super awesome.  She put him in a gate trainer and he loved it.  This was his 1st time in one and we weren't sure what he would think.  He took 2 tiny steps by himself!  I was beyond excited!  She's going to try him in it a few more times during therapy and if he continues to do well she will get one ordered for at home!  Wed night began Eli's sleep study.  We got here and they got him all hooked up.  He fell asleep pretty quickly. 

Which brings me to Thursday morning.  This is where we still are.  He was badly positioned so the sleep tech shifted him at about 3:45am.  He struggled to get re situated and back to sleep.  He's finally sleeping and i'm now wide awake.  We leave for Wichita today and I'm ready to get away from it all for a few day!

Here are a few pictures.
Eli's new soft side helmet

Trying out the Gait Trainer at PT

Ready to go to sleep for his sleep study