Last week we went to Children’s National for Rae’s genetic consult. My pediatrician suggested we do the muscle biopsy to test for mitochondrial disease.
Our appointment was at 8 AM. Fortunately we got there at 6 am, giving me plenty of time to stress before the appointment.
We gave them a full run down of my pregnancy, details of the 2 vessel cord and IUGR Rae had before she was born, then the details of our families medical history.
Then we had to describe every single aspect of Rae’s health: Constipation at 2 months, progressively worsening. She crawled at 5 months, pulled up at 6, stood at 7, then stopped trying to stand and would get really tired after crawling shortly after. 6 months is when we found her weight had dropped from 40% to 10% then dropped off the charts shortly after that. Did lots of lab work. We took dairy and soy out of both our diets (still breastfeeding then). No change in weight or constipation. Then took out wheat and eggs (and dairy and soy) out of both our diets. No change. Tested her for cystic fibrosis, which was negative. Then switched her to Puramino formula and added Duocal. No change. Then she started standing again, but her left leg would bend in and she would step on her left foot. Saw a neuro. Saw a orthopedist. Did an MRI which was clear. Then the GI had her do the barium enema, which was clear. Then we did the endoscopy, sigmoidoscopy (also clear) and had her put on a NG tube. Told her about all of Rae’s illnesses the past few months, a few fevers, had the stomach bug twice, 2 ear infections, 3 colds, etc. She had some more lab work done (she has about 20 something pages of lab work) and a genetic chromosome test. All the tests were inconclusive or showed minimal findings that didn’t provide any concrete answer. But on the bright side, she’s now walking with only minor left sided weaknesses (that comes and goes, not very consistent).
And now we are here.
A month and a half after the tube, and she’s gone from 16.6 to 17.6 in 2 weeks, then up to 17.14 2 weeks ago. Now she’s back down to 17.8.
Which I guess isn’t terrible, but makes NO sense.
How is she getting a 500-600 ml overnight plus all her bottles and finger foods and still not gaining (or at least maintaining weight)? And she’s still constipated unless she has a capful of Miralax a day, which is a lot for a little baby.
So the geneticist heard all of my concerns and Rae’s history and said her symptoms do point to a possible mitochondrial disease or other genetic disorder, by her symptoms alone. So we did some preliminary lab work to see if she has any of the markers for it. If something comes back, we may not have to do any more tests and have enough for a diagnosis. If not we will do the DNA test, followed by the muscle biopsy (a last resort). So she wants us to follow up with her in 4 months and to see if “she gets any sicker”.
Really? Let’s wait and see if she gets sicker? This is quite possibly the worst thing you can tell a mother who has already waited 8 months for an answer of what’s going on with her baby. And now we have to wait and anticipate her getting worse?
So I asked what we should do about her weight. If she can’t even maintain on the tube what are we supposed to do? We already upped her feeds from 45 ml/hr for 12 hours to 55 ml/hr for 12-14 hours and even after a few days of that she lost another ounce (not much, but still frustrating). Her response was to “Just give her a g-tube for a few years”.
A g-tube is a gastrostomy tube, which requires surgery and hospitalization and is puts a port directly in her stomach for feeds. I don’t take that lightly. I don’t want her to have surgery if whatever is making her not be able to gain is something that could be fixed otherwise. If she has some condition that isn’t mitochondrial disease or something that can be solved without it, why would I want to put her through surgery unnecessarily?
I left more frustrated than comforted.
There was no sense of urgency which I should be grateful for. Obviously this isn’t something that is super dangerous, or else they’d be more on top of her. But, then again, with genetic disorders there’s not much they can do anyway. If this is a mitochondrial disorder, there’s no cure and not any good treatment options, which they already prepared me for at the appointment. If something does come back abnormal on the lab work they will call, if not, we’ll see them in August and get the mtDNA test. Unless Rae’s neurologist orders it first (we see the neuro again in May).
Until then, we keep up with the weekly weight checks, seeing our GI and nutritionist. I’m going to meet with my pediatrician about the g-tube and see if that really is something that’s necessary or not. But above all, we’ll be praying about whether or not that’s the right answer.
A few months ago I stumbled upon this verse:
God is within her, she will not fall. He will help her at the break of day.
What a perfect verse for both Rae and I.