Today Rae had a big appointment with the neurogeneticist at Children’s National.
We did decide to take her up to Kennedy Krieger to be evaluated by a neurogeneticist last month. This was just to get more direction on if a mitochondrial disorder is really on the table, or if we needed to do other testing while we waited to get off the wait list for this specialist at Children’s. Kennedy Kreiger was not covered by our insurance, so I’m glad we only had to go one time before an appointment opened up for us today.
We had been on this waitlist since May.
And we’d been told this looked like a mitochondrial disorder from different specialists and our pediatrician since February.
I talk a lot about mitochondrial disease in this post, so if you don’t know what it is, please, please please read more here. This explains mito 1000 times better than I could.
So our meeting today went really, really well.
Like, I loved this doctor.
And Rae did, too.
She actually sat on her lap, which is shocking.
So we talked about medical history, though most of it was already covered, since all her records are shared through her other specialists at Children’s (which we see a geneticist, a gastroenterologist, a orthopedist, a neurologist. and had seen a cardiologist all through Children’s within the last year).
Then we started working on a game plan of how to treat Rae.
#1 Orthotics. If you remember, back in January Rae had an MRI done and was evaluated by a neurologist and an orthopedist about her funky gait and they were talking about the possibility of her having Cerebral Palsy. Praise God the MRI showed nothing, and within a few months of getting on the NG tube, she started walking. Well, while she may be walking, she still does have issues with low muscle tone in her hips, ankles and legs. To me, I don’t see it as a major problem and I’ve been putting off taking her back to the orthopedist since she is already having physical therapy twice a month. I was wrong. Apparently it’s not great, and she needs to have orthotic braces to help stabilize her muscles or else her new doctor suspects she will regress further and be fully walking on the outsides of her feet and lose balance even more within 6 months to a year. So that kind of sucks. She already has a gtube, I really didn’t want to add anything else uncomfortable to her, but obviously we will do whatever is best.
#2 Immunologist. She needs to be seen by an immunologist for further testing of her immune system. She has had 3 staph infections in 4 months, as well as countless colds, stomach bugs, fevers, and ear infections. Kennedy Kreiger ordered some routine labs of her immune system, but they did not check her immune system down to a cellular level, which is important in a suspected mitochondrial case, like Rae. Yay more specialists to add to our list!
#3 Labs. We are going to retest her thyroid levels since she has been having a hard time regulating her body temperature lately. Her hands are constantly freezing as it is getting colder and we have see her lips turn purple a few times. And over the summer, the second she sat in the car she would be dripping with sweat. So apparently this could be a thyroid issue (we’ve tested her thyroid before and it was fine, but that was 8 months ago) or it could just be another thing caused by the mito. We’ll also test some more mito markers (Creatine levels, I think is what she said). She did have a chance to go over her labs with me that we had ordered by Kennedy Kreiger, which was just the lactate levels being elevated (for the 3rd time, they retest this often because apparently this is a easy one to be screwed up, so they retest to make sure it truly is elevated) and some amino acid levels were a little off as well as high acid levels in her blood, which she said is consistent with the lactate levels not being a fluke.
#4 Up her feeds. Rae’s really tiny even with her gtube feeds. Yes, she still eats by mouth. And everything that she eats by mouth SHOULD be enough to sustain a growing child, but somewhere in her body, her nutrition get’s absorbed wrong. That’s why she has the gtube, to make up for the absorption issues and give her extra calories her body needs to thrive and actually gain weight. She gets an extra 20 ounces of high calories and predigested (read: expensive) formula through her tube every night. Well, even on the feeds she has now, her neurogeneticist thinks she could gain more to help give her even more energy. So we’re going to up her feeds, which means back to the day feeds and backpacks.
#5 Mito cocktail. One of the “treatments” for mito (there is no cure, only thing we can do is treat the symptoms she has as they come up and try to slow the progression of the disease) is a high dose of vitamins and supplements that sometimes can help mito patients immune systems and energy levels. We will start her on the cocktail as soon as we get her labs back.
So, that’s the plan. She has NOT been officially diagnosed with a mitochondrial disorder. We are still waiting to see if we get more conclusive genetic testing that shows she for sure has it. That, or we wait until she gets worse and has more muscle systems affected, which is hardest thing about all this.
Her doctor today called her a “sick kid”.
She talked about how we don’t know what Rae’s prognosis is yet.
She could, and hopefully will stay consistent for a really, really long time. We can hope that she just has to stay in touch with the doctors she has now, and nothing else comes up. We can pray that it’s not mito.
But then we’re told the reality that her symptoms match that of a mitochondrial disorder.
And it’s a waiting game.
It’s waiting for a diagnosis.
And I’m hoping and praying, that in our lifetime, we do find a cure.
But for now, at least we have a plan.
And finally a doctor who is completely and 100% proactive about helping us take the best care of Rae as we can.
“‘For I know the plans I have for you’, declares the Lord. ‘Plans to prosper you, and not to harm you. Plans to give you a hope and a future.'” Jeremiah 29:11