Thankful and Update

        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.