Christmas is over

Now that Christmas is over, we are so ready for Summer!!



Dakota and Christian are loving their Christmas break, playing video games all day.  They are both doing great!  They keep me grounded when I need to be. :)

Ava is doing ok.  We're battling hypoglycemia and energy problems lately.  She's going to start going to  the Neurometabolic clinic.  I'm hopeful that they will have some answers.  Some of her symptoms are not usually seen with the mitochondrial disease she has.  They are thinking she may have another Mito disease called MNGIE.  She's having another MRI of her brain on the 11th of January.  She's also having some increased seizures and will be getting a 3-5 day VEEG.  She's always had constant retching, but we've been venting her Gtube with a Farrell bag.  She remains on 24/7 Jtube feeding to maintain blood sugar levels.  She takes zofran daily, which is a godsend! :)

You can tell from her picture that she really has happy days, goofy days!!

We had a great Christmas here.  Dakota and Christian are loving all things video game related (wii, xbox 360)...  Ava is still recovering from Christmas.  We've noticed that her body stresses easily.  Long drives, vacations, a lot of excitement, etc... totally through her for a loop.  It takes days for her to recover from anything.  I assume this is Mitochondrial disease related?

The fact is that we're a little depressed right now.  Our baby isn't doing the best and her longterm prognosis isn't great (as with all Mito kids).  But there is plenty of hope and praying and soul searching...

Over the Summer our pediatrician asked me to find Ava a new primary care Dr.  She felt Ava's needs were too complex for her.  This was a huge blow as we really loved and trusted her.  Ava was actually the most medically complex child she's ever treated.  I respect her for being honest with me.  She was basically getting status updates from residents when we were in-patient with nothing to add.  They were doing tests she had never heard of.  She remains Dakota and Christian's pediatrician.

I spoke at length with Ava's genetic doctor about this.  He had taken over all aspects of her in-patient care long before this happened.  I'm told this is out of the norm for genetics doctors to do what he has done for Ava.  He really is an amazing man.  We sat down and discussed what we needed in a pediatrician for Ava, other than the norm.

We needed someone experienced with Mitochondrial and Metabolic diseases.
Who is closely affiliated with Cincinnati Childrens and hopefully had worked with many of the specialists closely.
Would and could handle all aspects of her healthcare and be an advocate for her.
Handle toggleing g-tube, j-tube and TPN feeds. 
Could be reached 24/7 easily and quickly.

What we needed was a miracle and her genetics Dr knew who to call.  Dr Levin at the The Center for Infants and Children with Special Needs.  They are a practice that only treates medically complex children.  There are 4 doctors and there is always someone available.  They take over everything.  Thankfully they  overlooked the year long wait list and picked up Ava as a patient within a week.  Ava fits in well with them.  They have many other patients with Mito, which is also helpful.

You can click it to make it larger and read about them.  Ava is on the bottom left. :) 

Ava got out of the hospital on Saturday.  We stll have no real answer to her severe hypoglycemia.  We know it's probably partially related to her Mito, but they feel there's something else that they're missing.  She doesn't respond to glucagon, polycose, acarbose or any of the other conventional methods to treat it.  The only thing that will work is D12 and I obviously can't do that at home.  We know it's probably liver related since she doesn't have glycose stores she should have.  She remains on 24 hour J feeds with added cornstarch. 

Wednesday

I can't believe Christmas is 11 days away and I haven't even startes Christmas shopping.  My sweetie is still in the hospital.  I never leave while she's here.  I miss my other children and hope Ava gets discharged soon. 

Ava's stay on the endocrine/CF floor lasted less than 24 hours.  Her blood sugar dropped to 26 and they got most of the needed labs.  Her genetics Dr and endocrine docs are seriously ticked because the nurses failed to give Ava glucagon before a D12 bolus.  Glucagon would've told us how her liver is doing or if she has a wierd varient of glycogen storage disease.  They are drawing more liver function labs today.  We've been discussing liver biopsies for a few months and if we don't get some answers soon she'll have to have it done. 

While her glucose levels were 26 Ava had no symptoms.  This is not a great finding.  This means her body is used to being that low.  She's obviously low more often than we realize and just not symptomatic. Not the greatest news I've heard all day. 

Test results are slowly coming in.  She's spilling ketones, her growth hormone remains extremely low (it should raise when she's hypoglycemic).  Being on growth hormone shots should've prevented drops in her blood sugar. 

They are considering trialing her on a new drug that isn't typically used in children and isn't used for hypoglycemia.  It would have to be started here in the hospital since there are some bad side effects.  Her special needs doctors have never used it on a patient so this will be uncharted waters for them too.  There's a small chance that it might help her.  We shall see....

Ava has been asleep for the last 15 hours and will probably sleep until this afternoon.  She's having a Mito kind of day. 

Saturday

Ava had a picc line put yesterday.  She's lost all peripheral iv access and we were told the chances of getting another picc in after this is very low. They tried for 2 hours to get the picc in.  She has terrible picc access too, this was a blow.  If we can't keep her stable then she'll need a central line.

They moved her up to the endocrine/CF floor today.  They want to fast her and when her blood sugar drops then do a lot of labs.  They are going to look at everything and try to pinpoint a reason for her hypoglycemia.  We are weaning down J tube feeds by 10mls/30 minutes until she's on nothing.  I'm curious to see what the results are.

square one

Were still here at childrens. Ava has everyone at a real loss, she always has. She was admitted with blood sugar at 32 on Monday. Yesterday she became febrile with head and back pain. Blood sugar is everywhere. Today she has no fever, head /back pain continue. The doctors feel terrible with over a year of no real answers and worsening symptoms. GI is being brought in again. On Friday the head of neurology (who specializes in neurometabolic diseases) and her genetics dr are having "clinic" with endocrine in Avas room. Her growth hormone injections have been stopped due to brain pressure problems. I'm hoping to take her home over the weekend and keep her outpatient through the holidays.

hospital

ava is back in the hospital with crashing glucose again. I hope this is a fast admission.