Well yesterday was the day we went to the NeuroMetabolic Clinic.
We were asked to arrive about an hours earlier than our scheduled time to complete consent forms and get bloodwork.
Poor Daphne had to fast for 4 hours, turned it to about 5 by the time they did her draw. She was a trooper through that even though she missed her favorite meal of the day…breakfast.
Don’t worry, I packed up her stealcut oatmeal and cantaloupe so she could eat right away.
I hate her getting bloodwork, only 1 time out of the several times she has had it, has it been a good experience. I mean her getting poked once and the vein found right away.
This time the phlebotomist came to the clinic so we did not have to go to the lab. I learned some things from our past visits that heat packs help the veins be more visible and larger and sugar water helps distract her a little from the poke. So I asked the genetic counselor to have those items for us since the lab always gives us a hard time depending on who we have. The lab did not disappoint with their attitude and lack of smoothness. The counselor even got annoyed after they poked her and dug around and had another guy look all while keeping the needle in her skin to say the vein just keeps moving. The counselor even asked if they should call another guy who they call the vein expert, they were a little annoyed which j think motivated her to get it right the next time. So they poked her other arm and got it first try. The counselor expressed her frustration to be about the techs and being a children’s hospital and you should be an expert, blah blah, the exact same things I have said. I even told her I have asked about a vein scan and they said they didn’t have it and she told me they were lying and to demand that use it the next time.
One of the perks to being a regular at the hospital is learning all the tricks to make your visit easier.
After the exhausting bloodwork Daphne had breakfast and a bottle while we talked to the NeuroMet Team (Metabolics doc, counselor dietician, nurses and neurologist). They asked about all the changes from our last visit and then the Neuro examined her since this was her first time meeting her. The neuro is the only one in her group that visits the the NeuroMet clinic so she will know Daphne well. She was pleased with Daphne’s head control, her tracking and progress that we reported. We were told Daphne has a good Corpus Callosum (a broad band of nerve fibers joining the two hemispheres of the brain) where other Mito patients and maybe specifically with her disease have abnormalities so that is something to be happy about!
Many many questions were asked and answered as well as a lot of science talk that I try to stay engaged with but they have a way of going way, way above my head, so at that point I start playing with a restless Daphne swinging her, talking to her in the tv which we pretend is a mirror and get her laughing and everyone starts watching her. I try to distract her a little so the docs can see her real personality and not the mouth hanging open veggie state baby that people she does not know brings out in her.
It’s her camera face aka paparazzi face similar to what Kim Khardashian posted of her daughter 😂
Next we met with a metabolic dietician and she did not provide any help at this appointment stating there is nothing documented in science that shows it helps. We have read a variety of diets, certain food groups and organic options that parents think help their kiddos, so I think a balanced diet is what we will stick to and seriously it’s not like she eats fast food or Mac and cheese and chicken nuggets. She is mostly veggies with some meat and fruit. If I ate the way she does I would be trim, but of course I can indulge in all the yummy fats she is not interested in.
If anyone reading this has any tips or favorite meals that are kid friendly (flavorful and homemade and relatively soft) leave me a comment please. Every weekend when it comes time to plan the weekly menu and go to the grocery store, I get stressed out! I love to cook, but finding he balance in what is good for Daphne and suitable for her two teeth (now 2 in fully and 2 half way in and 2 more poking through) and Adelaide and Rich and I who do not want not do we need to eat pasta that much!
We saved the dreaded skin biopsy for the end of the appointment. 😢
As a parent you can dig down and find an incredible amount of strength that you never knew was possible.
To hold you baby on her side while the Doc preps her leg for a surgical procedure, was not easy. She started crying just from him scrubbing her leg, before the bad part even started.
She did get a numbing shot that took foreve to get, stung really bad and I know hurt because he only poked her once but kept having to move the shot around to numb the entire area. I asked for him to go slow so it would not sting as bad and he said he would but due to the needle being so small, like a diabetic needle the lidocaine shot out in a stream not an easy drip so even if he went slow it would not always help. Argh!
I tried to maintain my focus on Daphne with my face mask on and play her favorite song, Farmhouse by Phish, and pacifier and her one and only game she likes but it only helped a little.
When the time finally came for the punch biopsy she did not feel it, thankfully. I watched them pull the little piece of skin out and put a piece of gauze over it and a clear sticky almost like ceran wrap bandage, that we get to remove today, and then he pulled the surgical cover off her leg that did take her skin off in one area. Poor bugga. She did scream and not like the antiseptic cleanser and the pressure from him applying the gauze. He said today we can just put a band aid on it but I don’t know how I feel about that. I will make that decision once I see it and luckily our friend and neighbor is a wounds care nurse and my dad a surgeon who always taught me (even though for years I swore air was better….yeah better for a scar!) that moist wounds heal faster and better!
All in all I think the clinic setup is good to get all specialists in one room together.
We DID meet the medical director of the group and he will be the main guy advising on supplements.
On the long list of inquiries we made about supplements, right now we plan to start a new supplement, N-Acetyl Cysteine, I will post about this soon. This supplement apparently smells and tastes like rotten eggs (oh great!) should be easy peasy to get into her.
We ran a blood test to get a baseline for this supplement that will go to Cambridge and then Stanford. The two places test different areas to get a conplete picture.
The skin biopsy will be studied at our hospital, a place in Cleveland and a place in the UK (post on this soon) and then some frozen for any future study we happen to find out about so we can grow some more fibroblasts and send it off without having to go through this again. That makes me very happy.
Of course we came home from the hospital with a sleepy baby and fed her a little lunch and gave her some Motrin to help with pain and swelling and Daphne did not sleep a wink, she has had Motrin one other time in the past and I think it did the same thing to her. A day where she really needed to sleep and we needed her to sleep to catch up on work, did not happen.
Daphne was up a lot the night before, feeling yucky I thought from teeth and probably so but also developed a cold. Her eyes were drained yuck at an incredible rate yesterday and this morning her eyes were crusted totally shut. Ugh! We were just off last week mostly with Adelaide being sick and now Daphne when she is going to be recovering from her procedure.
Off the the doctors we go today and fingers crossed she can make it a couple hours at the babysitter so we can get some work in and not get fired from our jobs for taking care of sick kids!
Here is my little sick bugga and her poor little leg