It’s been a while since my last post. That’s not helpful for
those of you who read this blog but the reason is good—Ellie’s episodes have
been fairly controlled and mild. Let me say first and foremost, and during this
season of THANKFULNESS that we know how extremely lucky we are. I read other
family’s stories about their experiences with CVS and I am blown away at their
suffering and their resilience. The children who go through this are completely
remarkable. Something I have learned from being in touch with so many other
families is that CVS often goes along with a host of other health issues. So if
you are not a CVS family and you meet one—you should shake their hands and
congratulate them for “keepin on, keepin on!”
Comparing is not usually helpful, but
I think in our case it brings a healthy dose of perspective. I met a really
great adult woman at the CVS conference last summer that has to live with a
port in her chest and and a g-tube in her stomach for fluids and feedings. I
met another warrior mama at that same conference whose son was just days away
from heart surgery and having major CVS issues as well. That little guy is still in the hospital and has
experienced the kind of physical suffering that I pray most of us will never
know in our lifetime (I’m not exaggerating, it’s terribly sad, google Team Declan if you want to know more).
We also met a girl who was a freshman (sophomore?) in high school and had
missed 40 days in a row that year because of how out of control her CVS was.
Dr. Li told us there are kids with CVS who go to school Monday, Tuesday,
Wednesday and then stay home to sleep and rest on Thursday and Friday. There a
LOT of families who have children with CVS who are also autistic and
non-verbal. I’ve even learned of a family who lost their son because of CVS. He
was also non-verbal and for lots of reasons his body just couldn’t fight the
cyclic vomiting. Despite spending a good portion of his life in the hospital he
still passed away as his teenage years began.
We are terribly lucky and sometimes
I feel guilty updating you all on Ellie’s health knowing the range of horrible
that other kids/families/adults live through with this same disease. But, as I
would tell any friend, everyone has something and it’s ok to vent, to feel
stressed and afraid. Even if your struggles aren’t as bad as someone else’s, they
are still struggles.
So here is my update on my sweet,
growing girl…
We saw Dr. Li (the wizard of CVS)
in Milwaukee in October. My CVS
mom friends said to prepare for a 2-hour appointment, but I couldn’t imagine
what we would talk about for 2 hours. It was a 2-hour appointment. It was
mostly checking in, telling him about our year (particularly the hard spring we
had last year) and making medicine and supplement adjustments. He updated me on
research that has changed and other new learning, etc., etc. But this
appointment also brought a few new considerations and insights that are worth
sharing:
1.
Swimming: as we talked he asked Ellie questions
about school and activities she enjoyed. Naturally, if you know Ellie, she told
him about her love of swimming. He then told me that he has a LOT of patients
who live in and love the water the same way our Ellie does. It’s a reaction to
the mitochondrial piece of the disorder. Ellie’s temperature on a good day is
99.6/99.9. If that is her reading we know that all is well. When her reading is
more like 100.3 or 100.5 we know that she needs to slow down, get more sleep,
etc. We also can use that as an indication for a possible looming episode. Kids
with mito disease often struggle with core body issues (heart rate, energy,
temperature, balance—all sorts of ways). SO, when Ellie plays outside,
particularly in the spring or summer, she melts away fairly quickly. She also
hates running. Remember how we bought her the cooling vest last spring in hopes
of helping her feel comfortable for a few more hours outside? But in the water,
that child could play for HOURS. She loves swimming and because she is so long
and lean, she is naturally pretty good at it. This was just a huge affirmation.
Dr. Li talks a lot about how it is still important for mito kids to get good
exercise even though it doesn’t feel good. I am so happy that we found Ellie’s
“thing.” She loves swimming, she’s good at it, and we will happily support
keeping her core body temperature down via this awesome form of exercise!
Score! (BTW, She can do all the strokes except for the butterfly—once she conquers
that one she is close to being able to try out for the junior swim team!)
2.
Less thrilling: this time around Dr. Li did some
in-office checks with Ellie regarding connective
tissue disorder. Medically speaking there are 9 in-office markers that
doctors go by when deciding whether or not to refer a patient to a connective tissue
specialist. Ellie has at least 5 of those markers. So, we are going back to
Milwaukee in…ready for it… APRIL to meet with that specialist. Ugh! This is
what happens when working with doctors who specialize in rare diseases in
children. We are on the waiting list and I’m hoping they call sometime in January
or February to move up our appointment. As Dr. Li was trying to tell me about
what connective tissue disorder is that day in the office I was confused and
had a hard time understanding (I think I was also experiencing some brain fog
trying so hard to keep up with the medical jargon). It has to do with, well,
body tissue and it can effect anything from skin, joints and muscles to
internal organs. Ellie’s heart rate, her inability to maintain a normal body
temperature, her ridiculous flexibility and her low energy—these are all
elements of potential connective
tissue issues. There are about a thousand different variations of connective
tissue disorders, hence the next step--going to see a specialist. As Dr. Li was
telling me all this, I couldn’t help but wonder, “Well, who cares? Eleanor
being hot and flexible seems like the least of our problems. Do we really need
to look into this? Do I really need to add a new doctor appointment into our
rotation of appointments in life right now?” But as it turns out, I do. He
danced around it a bit and tried to emphasize the unlikeliness of this, but
kids who have connective tissue disease are at a greater risk for aortic
aneurisms than the rest of the population. Damn
it. Also, if Ellie does have some sort of connective tissue disorder, each
different type will mean different meds, exercises or food modifications, and
apparently some vigilance around all things heart related I assume. Her
mitochondria don’t work well and therefore can cause all these strange health
issues. Dr. Li played it down a good deal. He said that there is just as much a
chance of her NOT having it as her having it. So, I’m just letting this one
ride for now. There’s nothing more to do about it. I allowed myself one night
of Googling “connective tissue disorders” but it’s so broad that the spectrum
of possible issues is too huge to even consider. My last comment about this new
development: Last week, a day before her latest episode, Ellie was complaining
that she couldn’t feel her finger tips. Then the next morning she woke me up at
5:30am saying the bottom of her leg was asleep and burning (she was
sleep-crying, I massaged it, eventually it went away). These are classic
symptoms for connective tissue issues (poor circulation). Sigh… we’ll see.
3.
I am running out of time. Is it physically
possible for me to finish this up quickly? I am so long-winded, I’m sorry! But
the last new development is that we have decided to do genetic testing for
Ellie and then later we will do it for me as well. Sometimes the company we are
working with will offer to test parents for free (especially mothers) to get a
better understanding/picture. So we are just testing Ellie first. I worked
through about a million health forms, we sent in one payment and sent her spit
to the fancy East coast company via FedEx. The company will work directly with
our insurance so that we don’t have to pay an arm and a leg. There are so many
pro’s and con’s for genetic testing. That might be a separate post, but for
now—Dr. Li said that based on the genetic testing he has done with his patients
he has tweaked medicine and/or supplements for about 65% of them. For Brian and
I, that’s a pretty big percentage.
