A recovery weekend.

One of the countless times Bertrand's nose bled this weekend.

Bertrand had a rough time recovering from Thursday's sedation. It's the first time he has ever had side-effects coming out of general anesthesia in the 10+ times he has been under. The anesthesiologist gave him some different drugs toward the end of the procedure, but they didn't agree with him. (This was a different anesthesiologist than the other 2 we've gotten at Primary Children's. I want to make note of the 2 drugs so Bertrand never gets them again in the future!)

Bertrand was extremely groggy, nauseated and sore for the past few days. He vomited a few times on Thursday, but harder to witness were his repeated nose bleeds on the following days. (These could've been caused or aggravated by the EGD.) I've lost track of the number of times I have changed/washed his sheets. A combination of humidifiers, motrin, ayr saline gel, books, Elmo and snuggles helped keep my poor baby comfy. Thankfully, this evening Bertrand finally seemed back to normal.

A good news day!

Bertrand calmly reads books with his Nana while waiting on the anesthesiologist.

Bertrand has been on the longest streak of good--or at least "not bad"--news that he's ever had! I've been "knocking on wood" all day. Thursday's procedures started with the easiest time Bertrand has ever spent NPO (Nil Per Os meaning without oral food and fluids). He went into sedation without any tantrums or issues.

His "dental restoration" consisted of x-rays, a cleaning, and getting his molars sealed. According to the dentist his teeth actually look great for a special needs kid! There was zero sign of nerve damage! In the future, any time that Bertrand is put under anesthesia, the dentist recommends another thorough dental exam and cleaning.

His esophagogastroduodenoscopy (EGD) involved his gastroenterologist looking at his esophagus, stomach and part of the intestine along with a stomach biopsy. Everything looked "fantastic" according to the doctor (no ulcers or other visible damage) and the biopsy confirmed that everything is normal (no sign of celiac, allergies, or other issues)! Bertrand will stay on 15mg of prevacid for now and we will discuss removal again in a year.

Bertrand had blood drawn while he was sedated for his usual panels--Comprehensive Metabolic Panel (CMP) & Complete Blood Count (CBC)--along with his Lamictal and Depakote levels. His CMP showed that... *drum roll* ALT was 72 (normal range 5-45) and AST was 58 (normal range 20-60)!!! Both of these values are the lowest Bertrand's liver values have EVER been and the AST is now in the NORMAL RANGE! Yippee!

Bertrand gets the CBC drawn mainly as a way of checking his platelets--if the liver isn't functioning well then platelet counts drop and one experiences difficulties clotting. Well, the test was invalid because his sample clotted, so I think that answers the question.

The last results to come in were the medication levels. Bertrand's lamictal levels still aren't back, but his depakote level was 28.3mcg/mL. Effective range for depakote is 50-125mcg/mL, which means that the depakote in his system (a dose of 125mg once a day) isn't high enough to see any effect yet! This is good news because we hadn't really seen any changes in him--seizures, mood, or otherwise--while on the depakote. We're keeping our fingers crossed to see what upping his depakote to 250mg per day does next week!

I hope the "good news" streak continues for Bertrand's genetics appointment on Monday! :)

Dance Sensation! And More Sedation...

I just HAD to share photos of Bertrand at his dance class today. He had such a blast! His wonderful aide, Ms. E, rigged up a special carpeted rolling platform just for him! He LOVED it. Bertrand was relaxed & compliant (allowing Ms. E to help him reach for the sky, touch his toes, clap his hands, etc.) for most of the class, and toward the end he really enjoyed shaking his bumble bee shaker. Look at his grin while he "buzzed"! Precious! :)

Bertrand also had a dental check-up today. His teeth aren't looking good. His bottom front teeth in particular are so ground down that there is big concern for the nerves. He may need caps added to those teeth to preserve them. Bertrand will have to undergo a more thorough dental exam, cleaning & x-rays UNDER SEDATION. Yes, most people go under general anesthesia maybe 4 times in their entire lives, but Bertrand? Four times in a little over 2 months?! Not cool. I put all my special needs mommy ninja skills to work this afternoon and managed to arrange his EGD & dental exam together.

This means I am wiped out! 9PM bedtime, here I come.

PS - Bertrand's eye is still improving. He needs another week's worth of antibiotics and has ANOTHER follow-up with the ophthalmologist next week. We'll both be happy if we never see a bottle of eye drops ever again.

Corneal Infection

The cloudy patch forming over Bertrand's pupil.

Bertrand at the ophthalmologist's office.

Bertrand spent the weekend nursing a very red eye inspite of being on antibiotic drops. In fact, a cloudy patch started forming over the eye. Since I have a black belt in medical google search, this caused me a great deal of concern. I made a point to get Bertrand seen by his ophthalmologist first thing this morning.

Upon examination, Bertrand's ophthalmologist was grave. There is a severe infection in Bertrand's cornea. He couldn't tell the nature of the infection (bacterial or viral) or if it had progressed to the point of corneal perforation. He did however emphasize the seriousness of the condition (in 3rd world countries people lose the eye and even in 1st world countries there can be permanent vision loss) and immediately scheduled Bertrand for same day surgery.

At around 5pm today, Bertrand will undergo an anesthetized examination, biopsy (for a culture) and other possible intervention--like removing a particle if there is one. Bertrand was started on Zymar, a full spectrum 7-day antibiotic. He is not allowed to attend school or therapies until he is recovered. And, we DO expect him to recover. We think we caught the infection just in time.

Bottomline, we'll keep everyone posted. Bertrand will be very angry about the withholding of food & water until 5pm (for anesthesia), but other than that he should come out of everything okay. Oh and, Bertrand's fine motor skills have improved to the point of giving himself corneal infections. ;)

Genetic-Metabolic Clinic Follow-up

Bertrand's follow-up appointment with Dr. Longo and Rena, his genetic counselor (who Bertrand has a major crush on), went really well. B was said to be clearly progressing developmentally and not as spastic! Woo hoo! But in order to keep working toward a diagnosis, Dr. Longo needs more data. He went ahead and ordered the following tests/procedures:

• Brain MRI (looking at myelin formation)
• MR Spectroscopy (looking at N-Acetylaspartate levels)
• Electroretinogram (ERG)
• Visual Evoked Response (VER)
• Possible Neuronal ceroid lipofuscinosis testing (CNL3 Batten's disease)
• Alpha-fetoprotein & liver function tests--the usual tests for Bertrand
• Urine Polyols
• Alpha-l-antitrypsin deficiency

The ERG and VER are to test Bertrand's vision to see if it is deteriorating as consistent with neuronal ceroid lipofuscinosis, types 3 or above. Bertrand has tested negative for the early onset types CLN1 and CLN2, which makes this unlikely given how early his condition manifested. However, if his vision is being affected, then these are very much a possibility. There are 7 additional types of neuronal ceroid lipofuscinosis which can be tested for (at $3k a pop!), but the most likely next one would be CLN3, also known as Batten's disease.

The MRI is looking for brain abnormalities which could point us in the direction of SCN1, etc. testing. And, the MR Spec is being used to look for N-Acetylaspartate which is a strong indicator for brain damage or disease.

A urine sample to test for polyols (erythritol, xylitol, arabitol, and ribitol) is being sent to Baylor because elevated levels have been observed in inherited disorders of the pentose phosphate pathway.

And, lastly a test for alpha-l-antitrypsin deficiency is being sent out. This is a common genetic condition which causes elevated liver values in otherwise asymptomatic patients, but can cause severe lung and liver damage resulting in death for smokers with this condition. (Good thing Bertrand doesn't smoke!) For a long time Bertrand's medical team has assumed that his elevated liver function and movement disorder were related, but this test (a sop to me) would see if the elevated liver function is unrelated.

Rena, being the scheduling genius that she is, was able to arrange for the MRI, MR Spec, ERG and VER this Wednesday (12/23)! Which is fantastic! And then in an amazing double whammy, Dr. Sakonju was able to strong arm the Sleep Clinic into conducting Bertrand's sleep study and EEG before being seen in the Sleep Clinic in late January--TONIGHT (12/22). Quite the feat! Our insurance would pay for most of B's proceedures until December 31st, after which our deductible resets, so this accelerated testing is a blessing in more ways than one.

Dear Santa,

All I want is a healthy baby with no brain damage for Christmas.

XOXO
Cristina

Lumbar puncture, electromyography, etc.

Bertrand gets ready for his LP & EMG on the hospital bed.

Bertrand had his lumbar puncture (a.k.a. spinal tap) and an impromptu electromyography (EMG) today. While we'll start getting results back tomorrow (such as lactate) for labs run on the cerebrospinal fluid (CSF) tomorrow, we have the EMG results now.

The EMG of his arms/hands and legs/feet confirmed what we learned from the nerve conduction study. Bertrand's peripheral nerves show signs of demylenation. In his arms/hands he has what would be classified in adults as carpal tunnel syndrome. Just like his daddy! (Except in B's case it is not due to the compression of the median nerve, but the demylenation of it).

Based on this and some other information, Dr. Sakonju (B's neurologist) and I discussed a trial course of Valium. Bertrand is currently prescribed Valium in case of seizure only. These smaller doses of Valium would be taken before physical therapy or activity so he could get the most out of it. We'll see.

Bertrand will be seeing Dr. Sakonju again for a follow-up on June 10th. Earlier that day he's scheduled to have a brain CT scan to look for calcifications in the basal ganglia. This may or may not be proceeded with depending on the results of his labs... for now, however, it is a go.

General anesthesia was used today, so Bertrand fortunately didn't have to go through the IV trauma or the blood draw trauma (it took 4 sticks). Some of the blood will be sent out to labs in Georgia and elsewhere, and if we don't get some clear answers within the next 6 weeks or so, a muscle biopsy will take place sometime in July.

Blood & Urine Tests, Plan of Action

Bertrand enjoys playing with toys at the laboratory.

Early this morning, I called Dr. Samson-Fang's office again. When they told me she was out for the day and would get my message on Monday, I decided to emphasize the importance my message. The receptionist finally agreed to page Dr. Samson-Fang, but left me with the impression that she doubted my concern. Dr. Samson-Fang, however, never disappoints. She called me back immediately after getting paged.

We started by discussing Bertrand's progress in therapy. She will be mailing me the Shriners' application on Monday, so we can start Bertrand on physical therapy there in addition to his home sessions through the Utah's state early intervention program.

Dr. Samson-Fang then mentioned implications of the ataxia telangiectasia (AT) test results. First of all, these results still don't discount one extremely rare form of ataxia. Fortunately, she thinks that particular form is not likely for Bertrand. Next, we discussed Dr. Book's involvement. Dr. Book seemed convinced that Bertrand had AT, but now that it has been ruled out she'll have to revisit his situation.

Honestly, dealing with Dr. Book's office and her demeanor toward Bertrand's case has left a sour taste in my mouth. While it could also be that she is simply very busy, from the begining I got the impression that she was uninterested in collaborating on Bertrand's case. He was not her "problem". Her office wouldn't even schedule a follow-up appointment for him, and I had to dog them to speak with even just a nurse for his results.

Apparently, for Bertrand's last series of tests Dr. Book had ordered a screen for some metabolic disorder. No one had bothered to tell us, but that screen came up abnormal! They didn't have enough urine to then run the full follow-up test. Dr. Samson-Fang went ahead and faxed orders for that test to be run along with his regular blood work (AST, ALT, alpha-fetoprotein) today. I strapped a urine bag on him (I have a stash at home) and *ran* out the door to get that done!

We just got back from the Primary Children's Outpatient Laboratory. Bertrand is upstairs happily cooing in his crib. It was rough because they had to stick him twice and he is so strong they need two technicians to hold him. There is definitely nothing wrong with that kid's gross motor capabilities! :) This next round of results should give Dr. Samson-Fang something to talk to Dr. Book about. Hopefully, someone at Dr. Book's office will actually care this time.

Dr. Samson-Fang also mentioned that Dr. Book may want a liver biopsy to determine if it is a metabolic disorder where things are being stored in the liver. This wouldn't show up on an ultrasound or a CT scan. She'll be talking with Dr. Book about next steps, and a possible appointment for Bertrand, once the lab results are in on Monday.

Dr. Samson-Fang will also email Dr. Longo, who is the big metabolic guy here at the University of Utah. He works closely with Dr. Book, but tends to be more responsive--particularly to emails. With a 6 month leadtime, his clinic is even harder to get into than Dr. Book's! However, I am optimistic about dealing with Dr. Longo since he won't have the same preconceptions.

Wrapping up my talk with Dr. Samson-Fang, we discussed Bertrand's April 8th follow-up with Dr. Sakonju, a brain CT scan and a possible lumbar/spinal tap. The issue is the general anesthesia. While a CT scan is easy to order (Dr. Samson-Fang could order it), Bertrand has to get put under because the sedation didn't work last time for the liver CT scan. And, since they'd have to use general anesthesia anyway, that would be a good time to do draw the spinal fluid.

I'll give Dr. Sakonju's office a call next week once his most recent labs are in. If the urine test comes out positive for the metabolic disorder then there is no point to the CT scan or tap. Our search for a diagnosis will essentially be over and Dr. Longo will be our new go-to guy. However, if the test comes back negative, and all the metabolic issues get ruled out, Bertrand becomes a candidate for the University of Utah Department of Neurology's Movement Disorders Clinic.

CT Scan Results, Blood & Urine Tests

The poorly inserted (& removed) IV hurt Bertrand's right hand.

CT Scan Results
As anyone who has met Bertrand knows, he moves even in his sleep. We've learned that this does not a good CT scan make.

The radiologist who read Bertrand's CT scan said that, while apparently normal (no evidence of tumors or trauma), the scan was not clear due to "motion artifacts". So, yes. Despite being sedated to level where most babies are catatonic, being strapped down to a table, and having his mother (in a lead vest) holding down his arms--Bertrand jiggled all through his CT scan.

I'd recommend to any parent of a child with a movement disorder: go with general anesthesia. With general anesthesia, Bertrand kept still through his entire MRI and for much longer time than the CT scan. In order to sedate Bertrand for the CT scan they had to put in an IV--it was just as difficult as putting him under general. And, he suffered no ill effects from either.

In the future, we will err on the side of not having to redo our expensive medical imaging work by going with general anesthesia over sedation.


Blood & Urine Tests
This morning we went back to the Primary Children's Medical Center, this time to the outpatient lab. Patrick, our excellent lab technician, hit vein right away. The draw was quick, clean and basically painless (Bertrand barely noticed).

This blood sample will be used in the DNA diagnostic for ataxia telangiectasia. Basically, they will irradiate the blood at Johns Hopkins to see if and how the DNA changes. A positive result is not a definitive AT diagnosis, but that does put us in the realm of genetics. We will know in 4 - 6 weeks.

Blood drawn today is also going to test for Sydenham's chorea. This test will be run inhouse at the University of Utah. Due to the uncommon nature of this test, they save it to be run in batches. We'll get the results when they run it, generally between 1 - 2 weeks.

Bertrand's standard blood and urine tests will also be run. (However, this morning he decided that he was going to resist donating a urine sample, so we'll be taking a frozen--yes, frozen--urine sample to the lab tomorrow.) These results are back within a week.