Sense of urgency...

This last week has been very difficult.  I wish today I was writing to you with great news, but I am writing with a heavier heart than we have had in awhile. 

Joey had some testing this last week.  The testing was for his swallow.  He has been struggling with choking and gagging on food.  The great news... as it should have felt... he isn't aspirating or intolerant of thin liquids... but the heart breaking news for us as a family is what they saw as the test continued.  They saw Joey fatiguing as he ate. If you'll recall what I shared about Mito, it's all about life sustaining energy...

Not too long ago, his metabolic doctor said to us that Joey is declining. His muscle mass is less and his tone is decreasing.  This is happening because of the myopathy, the disease of his muscle, which is making his muscle not grow as they should.  The reality is, Joey's fatiguing because the energy he so desperately needs to do normal things isn't there.  Eating is so tiring to him that it's causing him to choke.  His energy is too low for him to properly swallow and get the food safely down. 

I walked out of this test and I crumbled.  I normally can restrain my mommy melt down until I get in the van, but not this day.  I've seen it coming... I've felt we were in for some changes... but I was hoping with all my might it was just me being overly anxious! 

The therapist working with him wrote in the study, no speech therapy needed. She recognized this as a progression of Mito and no amount of therapy at this point can help.  She said he needs to have short times of sitting at the table to eat and when he's choking, we are to stop all oral feeds, eating/drinking alike, and move to tube feeds for him. It hurts me as a mom to see we are to this point because he cries because he wants to eat the food but he realizes he can't swallow it.  He wants to eat.  It upsets him he can't.  I have to confess, I cry with him!  This disease makes me so angry some days!  I hate it with all my might! But I can't change it... I can only help him through these changes and try to find positive ways to help him cope. 

In all of this, we have realized, we are going to have to get more strict about using his wheel chair.  Joey's Mito doc said he needs it and we are seeing that the reality of it is... he does.  It was confirmed in my mind today that this is our reality...

We went to church and Jeff carried Joey too and from the car and even up the stairs to his class room.  Just being on foot for what little bit he was, Joey couldn't eat lunch today.  He couldn't get anything down we put in front of him except scrambled eggs.  He was pale and looked so tired.  It made my mom cry to see it.  No kid should have to chose between playing with friends or having the energy to eat his lunch.  It isn't fair. 

This is where the sense of urgency comes in.  This picture below is of Joey in his wheel chair. This wheel chair was made with tilt ability so he can sleep in it (He does OFTEN) and also, it was set up to protect him if he has a seizure. 

 

This picture is of our van... The wheel chair you see is Abby's.  The bags around it are mediations, meals for the day, bags with daily necessities and then JJ's airway clearance vest.  The green and blue seating systems on top are the seats to Joey's and JJ's wheel chair.  Underneath the seating systems behind all of this are the frames to the boys wheel chairs.  In order to use Joey's chair (And believe me! We have tried every position possible and this is the only way we can get it all to fit), we have to pull every bit of this out... put his chair together and then replace it all to the van.  Then, do it all again to put the chair back in the van.  This van doesn't work for us!  It's a disaster!  We need a van and we need one soon!  At this point, we have chosen to take JJ's wheel chair out of the van as he doesn't need his as often.  We put it in for Riley days but in order for Joey to use his on a daily basis, we have to do this.  JJ is at an age he can be carried, but he has the same kind of chair as Joey's.  So, it feels like in a sense, we are robbing Peter to pay Paul.  Please help us with this!  I don't often express urgency but we are needing to move forward with this!  We really need help from all of you!  It's going to take a village to make this van happen!  

Introducing J.J.

J.J. is our Mr. personality! He is always finding ways to make you laugh or steel your heart!  He's currently 2 1/2.  JJ was born early because of mommy's health issues.  We were very concerned he was going to have to come much earlier than he should but we made it just a few days before 37 weeks because of lots of prayers by friends and family. 

J.J. seemed very normal from birth but he had some very immature breathing.  They watched him very close.  His first feeding however, is where his journey began. They were hoping all of this was just from some prematurity but as time when, he worsened instead of improved, showing them this was bigger than just immaturity.  J.J. immediately started choking on his feeds and they were pouring out his nose with every feeding.  Doc began thickening his feeds with cereal right away to see if this would help.

 It wasn't long after, we continued to increase his thickening until our family doc finally initiated his Mito journey with the team of docs our other two see.  He was eventually admitted, this being the first admission of many to come, because of his feet and hands turning purple during feedings as well as finding his lactate levels to be elevated. 

During this admission, they adjusted his feeds until they finally found Honey thick liquids were his safest.  They then got him connected with GI.  It wasn't long before they realized that J.J. was using so much energy trying to take in his feedings that he wasn't metabolizing his feeds at all. He completely stopped growing and weight loss started to kick in.  The resolve to this was almost more than we can handle!  GI sat us down and told us it wouldn't be safe to feed J.J. through a G-tube because if he would vomit the thin liquids that went through the tube feeding, they would go in his lungs compromising more than it would be worth!  They said it was time to try him on J-tube feedings. 

 An NJ-tube was soon placed. This is a long tube they take through the nostril, down the throat, bypassing the stomach and then feeds are pushed by a pump slowly into the small intestine.  He was on these feeds around the clock.  The feeds have to go very slowly so in order to get his calories and his fluid allotment in, it was a constant feed.  A few month passed and when they saw the progress, they surgically placed a GJ-tube into his abdomen. 

 J.J. is now able to take most things by mouth.  We tried very hard to go with out his GJ-tube but he has continued to struggle with growth and energy.  Just a few months ago, they had to place his G-tube back in. Thankfully, his reflux and his vomiting have improved enough that he's safe to have just the G-tube and he only needs nectar thick drinks now. 

Jeremiah also has

a lot of pulmonary problems.  He has some sleep disorders, but his main problem is through the day.  J.J has very low muscle tone especially in his chest and abdomen.  This low tone makes it so that J.J. has a difficult time moving air in his lungs. This lack of air moving has resulted in J.J. having numerous pneumonias.   

To keep J.J.s lungs clear, he has to have breathing treatments twice a day on healthy days where he gets Albuterol and then he uses what's called an airway clearance vest.  This vest is made to shake/rattle the walls of the lungs to help move the "yuck" that your lungs have.  Deep breathing would keep a healthy persons lungs clear, but with his inability to do that, this vest does it for him.  When he is sick he has to do this every four hours to keep his lungs free of pneumonias. 

 J.J. currently needs Physical

therapy to help with his tone and development. He gets Occupational therapy to help with the sensory issues that he has. Then he also gets Speech therapy to help with the swallowing and with his speech delay.  He absolutely loves and adores all of his therapists!  

 

J.J. also uses a tilt wheel chair to help him with his energy and the days he's floppy and needs added support.  J.J. is on over drive most of the time you see him!  He is nothing but "go" as a typical two year old would be!  However, this "go", is what makes him crash and become very fatigued and floppy.  He has several days a week that he's just too tired and he sleeps or just lays down where ever he is.  These days affect so much for him! 

 

So, how would an accessible van benefit J.J.?  It would give him the ability to have that much needed added support his tilt chair is made to provide for him especially on days he's more tired or floppy.  The thing about these chairs, some might ask why not a stroller or a wagon.  Think about when you are exhausted... you just want to lay down or put your feet up.  For kids with Mito, the very act of sitting up takes energy.  Holding your head up takes energy. These chairs are made to give their bodies total support so that at the end of the day, they aren't left feeling completely drained by having to sit up, or stand or even walk longer than they were able.  When they use these chairs while we are out and about, it gives them the ability to come home and play like kids. Otherwise, they come home and they crash on the floor, the couch or the recliner and they just lay there. So, as hard as it is, we have adapted life to make these chairs work! They each deserve a chance to have every moment they can to feel "normal." If using a chair helps that... then a chair it is!  So thank you for being a part of helping us get something more accessible to help save their energy when we are aren't home.

Pfohl Kiddos picture montage

 

Learn about the kids and their mito.  This shows just a small glimpse into life.

 

Thank you for standing with us!

Introducing Abby!

Miss Abby is our spunky 9 year old!  She is an amazing kid! Always wanting to help, always wanting to make someone smile! 

 

She was diagnosed with Mitochondrial disease shortly after Joey.  She was about 2 when they started looking at her labs and biopsies.  Abby had a lot of issues since birth that were not as severe as Joey's by any means, but enough that once they found Mito in her brother they started looking at her. She battled sleep apnea requiring a monitory, she had severe reflux and many other GI issues as well as low muscle tone.  By 2 1/2 we really started to see the energy issues with her.  She started getting more and more tired and having more trouble with her development. 

Abby was Diagnosed by 3
with Mitochondrial disease. Her labs truly pointed in that direction.  She has done fairly well with the disease only having minor set backs until the last couple of years.  This last year, her struggles have really increased after having the flu last winter. 

 

Having the flu lead to Abby developing a seizure disorder and many more muscle tone issues arose after that time. Mito kids and the flu just don't mix!  After recovery, it wasn't long that they decided Abby needed a g-tube placed for hydration.  She was constantly in the ER because of needing fluids and that need would worsen her pulmonary issues making her require oxygen and throw her into a huge time of added weakness.  After getting the tube placed, Abby hasn't had to go to the ER for fluids and has done so much better fighting sickness!   

Abby battles migraines, Seizures, lung problems due to low muscle tone in her chest, sleep disorders such as apnea and hypoventilation, she has trouble absorbing Iron and has to take many supplements, she has gasteoperesis (Slowed gut) that causes her to some times struggle with her nutrition, she fatigues quickly leaving her struggling with her oxygen levels and her heart rate being elevated, she struggles with heat intolerance that makes her truly sick, she has renal problems and urological problems.  On top of her Mito, she also has celiac  (Allergy to wheat).  She has leg braces that come up close to her knees to help her with standing and walking.  She also uses a wheel chair for extended walking and standing to help her pain and energy levels. 

 Some of the doctors
on her team include neurology, cardiology, GI, endo, nephrology, urology, pulmonary, metabolism, infectious disease & ENT.   

Miss Abby is an amazing kid who loves life, loves being around people and loves her animals! 

Helping get this van would help Abby greatly with her pain and the needs that she has when we travel.  Having a handicap accessible van would give her the support she needs on days that climbing in and out are too exhausting or painful for her!  Thank you for making this happen!

introducing Joey!!

Joey is currently 7 years old.  He is so amazing!  He goes through life with a smile on his face and is constantly being funny!! 

Joey was diagnosed

with Mitochondrial disease very early on!  When he was born, Daddy and I knew right away something was going on.  He started having seizures and also would have spells where he couldn't breathe.  They did a nap study and found that his air way was closing over causing him to have O2 levels in the 60's and 70's.  He was taken right away for surgery to remove a piece of the air way so that he could breathe safely. 

Joey went to see
neurology when he was three months old.  They noticed that his muscle mass was not normal at all for his age. He had very little mass and he was very low tone (floppy).  They ordered lots of testing.  We went immediately for blood work that day. On the way home, we got a call from the nurse practitioner who had seen Joey. You could hear in her tone that she was anxious.  She told us to turn around and come back right away. Joey was going to be admitted.    They found in his blood work that he had built up lactic acid and was in lactic acidosis at a very dangerous level.

This phone call was a start of a journey we

 never would have dreamed of or thought of. It felt like a parents worst fear!!  We got back to Riley and we were admitted for a long time.  During this admission they took lots and lots of blood, they did a skin biopsy on Joey's back, they got urine testing to send off, and we had more faces of doctors in our room to talk with us then we knew humanly possible!  So much information and questions that were overwhelming.

Then... The genetics counselor came... she had several bags with her and she had a look of "I'm so sorry I'm coming in this room..." on her face.  What felt like a bomb was dropped on us... She unfolded the reality we didn't want to face.  She told us that Joey has Mitochondrial Myopathy.  Now Mito takes a long time to diagnose, so we had a lot of testing and awful waiting to see if they could pin the type... but they could see right away from many of the tests coming back that it was strong enough in the direction of Mito to let us know this is his "diagnosis". 

 

We were heart broken.  I remember standing there holding his little hand thinking that he was only three months old!  This was all just too much!!  I heard Jeff ask if this is something that could take his life... I couldn't even look at the counselor.  I heard her say "We can't tell you the outcome and life expectancy until we do more testing, but yes, Mitochondrial disease can take his life. It is fatal and at this point, there is no cure."

 

 

I sat there later that day holding him

and tears flooding my eyes... I hurt more than I'd ever hurt in my life... but I had a peace flood me that only could come from God! I knew in my heart of hearts we were going to get through any hurdle together and we were going to be ok no matter what each day brought! 

Today, Joey struggles but he has overcome

many hurdles they earnestly didn't expect him to overcome.  He has much he battles every day, but he is the most amazing 7 year old I know!  He is my super hero!!  This picture is of Joey in a special car seat they have ordered him.  He sleeps a lot.  This car seat is designed to help his low tone.  When he falls asleep, it wasn't unusual for his head to be between his knees in the van.  So this seat was made to hold him up and safe while we are driving. 

Joey has a lot of things on the inside his little body fights! If I may remind you, Mito is a fight at the cellular level.  The depletion of energy in your body from the mitochondria not functioning properly causes lots of issues in many areas all at once.

Joey has a seizure disorder that shows on his EKG he has 3 different kinds.  He deals with frequent migraines because of fatigue and sleep issues.  He has a speech delay because of low tone.  He has some swallowing trouble that is worse after having seizures or having been sick.  He has sleep apnea, hypoventilation (where your body can not get rid of the bad air. In his case, created by the inability to breathe deep enough to inhale and exhale as he should while sleeping.) He deals with severe reflux.  He has asthma and because of his low tone and weakness, they treat him like he has a lung disease to help him be able to play and do things without getting too short of breath.  He has gastroparesis (in short this means his gut does not move/digest as it should.  It moves too slowly causing pain and nausea).  Joey requires a G-tube to keep him hydrated because his body is more sensitive to hydration and also, to supplement calories as he has had trouble growing. He has a lowered immune system that makes it hard for him to fight sickness. He has started experiencing hearing loss. He has many underlying issues due to the low tone and muscle weakness.  Joey also has used a wheel chair for a long time to help with standing and extended walking.  A year ago, Metabolism said that Joey's muscles are not growing with him as they should because of the myopathy (disease of the muscles) so they said that Joey needed to have his wheel chair with him at all times and that he needed to utilize it to help with his energy. Joey gets very fatigued and walking exasperates that fatigue.  Using the wheel chair enables him to have more energy to do the "kid" things he wants to do!

Joey has a huge team of doctors that either are in place to watch vital organs or are already treating the issues they have found through testing.  Those doc are:
Primary Doc
Neurology
Metabolism
Developmental pediatrics
Cardiology
G.I.
Pulmonary
endocrinology
ENT
Opthomolagy
Joey surprises us every day! He truly is a super hero! He faces life with bravery and a smile! He has made our lives so much better and taught us so much!!! 

For Joey, Getting this van would be a miracle for him alone!  Because we have a mini van, his wheel chair (along with Abby and JJ's wheel chairs) have to be taken completely a part and stuffed in the back of the van.  When we go places, everything has to be pulled out so that we can get to his chair.  Then comes the assembling! Getting an accessible van would mean that his chair would either be easy to get too, or they'd be able to make it so his wheel chair becomes his seat in the van.  Then he wouldn't have to wait for t to be put together! Mommy and daddy wouldn't have to be in the weather to pull everything out assemble the chair and reload what we don't need. He is at a place that we absolutely can't work around taking his chair into stores.  Even riding in a cart tires him because the wheel chair is set up to support his body properly.  Please join us in providing this for the kids!  We can't do it alone! We need your help!!! 

Making memories!!

We share a lot about our medical.  But I wanted to take a moment and share our joys!  The kids have a LOT of bad days, but they have really good days too!!  This is one of those days!!! 

We took these

pictures with our first big snow this year.  The kids don't endure long to be in the cold or running around, but when they get a chance too, they make the most of every moment! 

Snow balls!! Snow men!!!  Snow angels!!!!

We have tons of fun together!  Mito is tough but we remember every day that we may have Mito but Mito certainly doesn't have us!!! 

On a quick note regarding the van...

We just got another $500!!!  So We are still coming right along!  This gift brings our total to $2,574.38

We are so excited!  Please continue to share our story for many reasons... YES we need a van and we need people to continue to gather around to meet this need, but also, people need to begin understanding more and more about Mito.  Just this weekend, another precious Mito baby went to be with Jesus!  There just isn't enough knowledge!  Please help us teach others about Mito so that kids can be diagnosed early, treatment started sooner and more research to take place on how to find a cure or better treatments!  Worth a cure! Every child!!

The best gift yet!

Yesterday, I was sitting at the kitchen table working on dosing meds.  As I'm sitting there Abby came in and asked if she could talk with me (Hands behind her back).  She starts to smile and says, "I heard you say that every dollar counts. I've been thinking about it and wanting to help.  All I have is a dollar and I want to help get the van."  She proudly hands me her dollar. 

I sat there in tears... the dollar is truly all she had and she wanted to help!  This whole experience has grown me so much!  This dollar was the best gift yet!

The total we have received so far is $2,464.38 and then an amount we've been promised from different sources is $1,310 bringing that final total (once that amount is in) to $3,774.38  Our miracle is coming!

Today, I end with... "Once you choose hope, anything's possible."  Christopher Reeve