Children's Hospital Colorado

The wait for yesterday's appointment was both exciting and stressful.  We had no idea what to expect.  Would this be another appointment where we were in and out in 30-45 minutes with no new information or would it be longer and full of bad news?  I think dad and I were both pleased with the information and care we received.  

The Lobby

Children's Hospital of Colorado is HUGE!  It felt like being at an airport versus a hospital.  There were different areas of the lobby, each with a corresponding letter.  We were at "terminal F" as I called it, waiting for our flight to leave, haha!

The appointment started as they all do with vitals, weight, and height.  Of course, we couldn't get a blood pressure because of Lennon's movement disorder. At least they didn't make us try again.  His weight came in at about 11 kg or 24 lbs, so he's regained a little bit of the weight he lost.  The weight probably wasn't completely accurate since he's too long for the scale.

Dr. Larson arrived very shortly after we entered the exam room. He asked what we were hoping to get out of the appointment and we didn't know how to answer.  As with most of Lennon's visits, we didn't know what to expect.  

Dr. Larson examining Lennon

While we were there, we discussed a number of things that we've already discussed with all of our Kansas doctors, but it was good to hear another perspective.  Dr. Larson spent a lot of time letting us ask questions that ranged from diet to life expectency.  After several hours, dad went to get lunch for Lennon.  During that time, Dr. Van Hove stopped in and thanked us for coming.  I wish dad had been there to meet him too because you could really sense the devotion Dr. Van Hove has to studying and finding solutions for mitochrondrial patients.

The highlights of our visit are as follows:

1. We discussed the genetic testing results again.

2. We signed consent forms for registry into the NAMDC database as well as Dr. Van Hove's study.

3. Lennon had a skin biopsy.

4. A new supplement has been recommended.

5. We got information for www.mitoaction.org, www.miraclesformito.org, and Living Well with Mitochondrial Disease: A Handbook for Patients, parents, and Families

Vocabulary 
From a clinical standpoint, Lennon still has MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes), the cause of this is most likely from the defect in his CARS2 gene.  Typically MELAS occurs because of a defect in the mitochondrial DNA itself, but in Lennon's case, his mitochondrial DNA did not show pathogenic mutations.  CARS2 is a gene that impacts the mt-tRNA synthetases, so according to Dr. Larson, even though CARS2 has not been linked to MELAS before, it makes sense that the two could be linked. If Lennon's biopsy completely confirms the CARS2 mutation, he would likely be the first to have CARS2 be the cause of his MELAS.

So basically:

clinically- he has MELAS  //  genetically, he has a mutation of the CARS2 gene.

Rare

One of dad's main questions was- "Is this rare?"  Dr. Larson said he considers him a rare disease specialist, so yeah. :)

One in 5,000 individuals has a mitochondrial disease, but as you keep moving through the subgroups, the condition becomes less and less common.

Ok, as I'm trying to reread this, it seems like a bunch of mumbo-jumbo. This is why I'm not a doctor.

In addition to the things I already wrote about, we also discussed placing a G-tube. More to come on that later.

If you made it this far, thanks for bearing with me.  It was a LONG drive to and from Denver. We thank Lenea for keeping the big kids so that they didn't have to travel.  We are glad that the weather wasn't too severe, although we did see our fair share of snow and slick roads.  But for now, it's back to "normal" as we know it. :)

Oh!  Shout out to Maria who is hosting the Miracles for Mito event tonight!  Check out the organization at www.miraclesformito.org.  She has been a tremendous help to me and many other mito patients.

Many hats... but no cape

I didn't have to work today... at least not at school.  (I do, however, need to go in to print things for the upcoming week.)  But it's been a busy day on the phone.

As some of you know, insurance was dropped for all the kids.  With 8 days notice, we have had to scramble to secure new insurance so that there wasn't a lapse.  In theory, we are covered.  I'm just waiting and hoping not to see the words DENIED or PRE-EXISTING CONDITION when it comes to Lennon.  Even though we are all on dad's insurance through work, I'm still working and trying to deal with the state to continue coverage for Lennon, especially since he's been determined to meet Social Security disability requirements.

The life lesson of the day is that parents of chronically ill children wear many hats.  I think most moms feel like they've got too many jobs, but I truly wasn't prepared for the extra responsibilties that come with Lennon's diagnosis.  I am a teacher, and I'm a mom... so some of this is familiar but:

I am not a nurse.  I never imagined trying to manage 7 prescriptions in 13 doses each day. 

I am not a dietician. I didn't think I'd spend hours each week trying to locate recipes that are both nutrient dense and calorie dense.  (Almost everything you find on the internet is geared toward weight loss instead of weight gain.)

I am not a personal assistant.  I used to be the administrative assistant to an executive director within our school district. Even his filing, correspondence, and scheduling needs were less demanding than those of my son.

I am not an occupational, physical, or speech therapist.  Thank goodness I have support from Arrowhead West in this area, but I research toys, exercises, and therapies that might benefit my boy.

I am not a lobbyist.  I keep finding myself called to advocate for patient and family rights, especially concerning insurance and safe access to alternative medicine.

With all these things that I am not, I suppose I have to accept that in fact, I am.  So today, I sat here in my Wonder Woman shirt, given to me this Christmas by my fantastic sister-in-law, and hope that some of her super-powers will pass into me.