Love Two Little Bugs: December 2010

Dear Little Man,

One year ago today, your daddy and I went to the hospital to find out if we would meet you. I was a little nervous about the idea of having an amnio to find out if your lungs were mature but the excitement of knowing that I could potentially be holding you in my arms within a few hours was in full overdrive.

We arrived at the hospital a little before 8:00am and Dr. R met us in the waiting room. Dr. R is the most amazing doctor I have ever met. I feel blessed knowing that he was our doctor. When I worried about you during my pregnancy, he calmly eased my fears. And I will never forgot two moments with him: (1) the day I expressed some uneasiness I was having over your health in utero, he looked me in the eyes and stated that God's blessings were never ending and (2) after he delivered you and things were wrapping up in the OR (you and daddy were on your way to the nursery), Dr. R held my hand and congratulated me and spoke with me for what seemed like eternity. His compassion and caring spirit is second to none. Dr. R has a very special place in my heart. And now back to the story...

Dr. R brought us into an ultrasound room. He explained every single tiny detail about what he was doing before and as he was doing it during the amnio. Daddy held my hand and we got to see you wiggle on the screen for the very last time. Dr. R said he was a little unsure about the way the amniotic fluid looked. Usually, with mature lungs, the fluid has lots of particles floating around. We walked over to prenatal testing, where I was hooked up to monitors to watch you for 30 minutes.

A brief rundown of the last {almost} two months...

October 19 - saw Geneticist #1 who ordered microarray and tossed around the idea of Marfans
October 25 - saw cardiologist for echo and ekg --- Little Man would not cooperate for the ekg; echo showed structurally normal heart with a functional murmur (we previously knew about); cardiologist strongly disagreed with the idea of Marfan's and wanted us to see the geneticist there; pulled strings and we saw him that same day
October 25 - Geneticist #2 disagreed with notion of Marfans; thought the microarray was a good call; ordered bloodwork for metabolic disorders after discussing Little Man's history; in addition, he ordered an ABR hearing exam, an eye exam, and a brain MRI
October 27 - saw orthopedist in AL for casting (due to progressive infantile scoliosis); according to Dr. K. Little Man's COBB was 16* but his RVAD was 23* and he shows rotation in 3-4 vertebrae plus a small compensatory curve in his lumbar spine; Dr. K said he was on the fence with casting because of the possible decrease in his COBB (he didn't have the prior xrays to look at because Geneticist #1 misplaced them). I told him that we decided we wanted to wait because of all his upcoming testing (it was a difficult decision for us to make but it had to be done). He actually said he was completely fine with that decision and we go back December 29 for a follow-up appointment with casting tentatively scheduled for December 30.
October 29 - saw ophthalmologist - Little Man has astigmatism in both eyes. She said this can be common in babies as everything is shorter on them but it usually resolves. Pierce has more than she would typically see at this point so she doesn't expect it to fully resolve. She said that if he were 2 years old (or maybe it was 3 y/o I don't remember), he would get glasses.
November 19 - Geneticist #2 for a health & physical... while examining Little Man, he asked me if Little Man had eaten before the Oct 25 bloodwork or if he was sick. I told him he had a bottle with an hour of the bloodwork and no he was not sick. We reviewed Little Man's metabolics results.His ketones were really elevated - the normal range is 0-30 and he was 205, his CPK levels (an enzyme released when muscles are breaking down - it's released when you overwork your muscles as well... for instance, working out) were elevated - his level was 267 and 0-200 is normal. His ammonia level was slightly elevated too (normal is 0-50 and he was 60). Geneticist #2 basically broke it down to a possible problem with cellular energy, more specifically a possible mitochondrial disease. He decided to repeat the bloodwork to see if those levels were true or not (stress/anxiety, fasting or illness can raise your ketones). He potentially wanted to do a muscle biopsy but he was unsure if he could get the bloodwork back in time. He ordered a urinalysis on Little Man to check his quick ketones. I also found out from Geneticist #1 that his microarray was normal.
November 30 - frenuloplasty (upper lip frenulum), ABR (auditory brainstem response hearing test), brain MRI and muscle biopsy (from the upper right thigh) --- on Tuesday, November 23, I spoke with the genetics nurse and he said that they were not going to do the muscle biopsy because his ketones looked ok in the urine specimen. We were in our pre-op room meeting the anesthesiologist. He asked why such a big work-up was ordered. I informed him that they suspected a mitochondrial disease. He said that changed things from an anesthetics stand point. Mito disease patients cannot receive certain anesthetic drugs. Even though we didn't have a firm diagnosis, he said he would avoid those drugs, just in case. Little Man was supposed to be in the OR for 7am to start the frenuloplasty with the ENT but the anesthesiologist put everything on hold until the ABR team arrived (he said he didn't want Little Man under and intubated waiting on them, that they could wait on him). While we were waiting, a pediatric surgeon walked in and introduced himself. He told us that he received an email from the geneticist at 9:54 the night before asking him to do the muscle biopsy because of the bloodwork. After about 4 hours under a general, he was in recovery
December 2 - follow-up with Geneticist #2 --- he confirmed that Little Man's quick ketones were in the normal range but in his bloodwork 2 ketone levels came back high (the one that was 205 last time was 319 this time); also, several of his amino acid levels came back high. His ABR was normal and his brain MRI was unremarkable. Little Man is barely gaining weight and starting to flatline on the growth curve. He is not giving Little Man the diagnosis of a mitochondrial disease just yet but he is treating him like a mito patient. We're supposed to let him rest as often as he needs it. He cannot go longer than 4 hours during waking hours without food and no longer than 6 during sleeping hours. He prescribed the Mito Cocktail (vitamin therapy) that they give these patients as well - Ubiquinol, Levocarnitine, Leucovorin and fish oil. The biopsy results take a minimum of 8 weeks to receive the results on. We follow-up with him on March 7 for more bloodwork to see where his levels are
December 10 - GI appointment - Because of Little Man's reaction (hives wherever it touched) to yogurt, we have to avoid dairy until another milk challenge is done around the age of 2. He and I spoke at length about mitochondrial disease. He said he wanted me to be informed and while the following may not occur, they very well could... we could see his dysphagia and severe GERD come back and at times mito kids end up with G-tubes. I knew that with mito, you can see progression and regression across the spectrum (developmentally, etc) but I never thought about those two becoming problems again. As of now, we can start weaning Little Man off EleCare (his prescription formula, presently 20cal/oz). He will get a 30cal/oz bottle for his overnight feed and any time he refuses a meal, we are supposed to give a 30cal/oz bottle. As long as Little Man receives a nutritionally balanced diet, he will be okay with not having formula or cow's milk. He is not overly concerned about Little Man's lack of weight gain. At this age, a child needs 80cal/kilo (vs as a newborn/younger infant, it's 100-120cal/kilo). Since October 25, Little Man has not gained even an ounce and is still continuing to flatline on the growth curve. Dr. A said "it's ok to be small and/or short, but it's a different thing to stop growing." We go back in 1 month for a weight check. If he still hasn't gained (or gained unacceptably) or lost, the game plan will change quickly (ie he will go back on EleCare 30cal/oz fulltime - we can't do PediaSure because of his milk allergy).