A Slight Detour

Matthew comforts Bertrand.

Bertrand has a habit of keeping things interesting for medical personnel, and he wasn't about to cut the staff at Cleveland any slack!

After sleeping most of the morning away, this afternoon Bertrand woke up with some labored breathing, and proceeded to pee some blood. Twice. (Urine cultures are pending.) His pulse and heart rate were elevated. Upon checking his O2 saturation, it was between 82 and 86%. The respiratory therapist didn't like the look or sound of his breathing. He was put on oxygen. (Bertrand is at 95% with 1.0L.)

The pediatric team was called in. Also not liking Bertrand's breathing, the sound of his lungs and elevated heart rate (165!), the pediatrician and attending neurologist admitted Bertrand to the Pediatric Intensive Care Unit (PICU). Chest x-rays have been taken, blood has been drawn, IV fluids have been started (Bertrand has refused to eat or drink since 1pm), and a urine catheter will be started.

He has since had another diaper with a bloody casing. The working theory is that at best Bertrand has a urinary tract infection. At worst Bertrand is developing kidney stones--on the ketogenic diet and on zonegran these are very common. It's not pleasant, but Bertrand is in as good a spirit as could be expected. And, if there were ever a time and place to get sick, while inpatient at the Cleveland Clinic, one of the world's best hospitals, is it!

End of Year Medical Marathon

Tuesday and Wednesday of this week became an end of year medical marathon for Bertrand. For a variety of reasons, not the least of which because our insurance deductible is met through December 31st, several of Bertrand's procedures were shoehorned into last minute holiday cancellations. Things went about as smoothly as one could hope for, and the preliminary results are very good!

Sleep Study
Results in 2-3 weeks.

EEG
Results in 1-2 weeks.

MRI & MR Spec
Results next week.

VER & ERG
Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.

Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.

Labs
Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.

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

Genetics Follow-up and NIH Travel Confirmed

Bertrand had a follow-up appointment with his genetic and metabolic specialist, Dr. Nicola Longo, this morning. Dr. Longo joined Dr. Sakonju (neurologist) and Dr. Samson-Fang (pediatrician) in remarking upon Bertrand's improvements: decreased movement, increased control, improved social interactions, etc. Improvement was not what he was expecting, even accounting for Bertrand's medications. This improvement coupled with a slew of negative test results goes quite a way to discount several life-threatening disorders but not all.

Dr. Longo wants to retest for Krabbe's, copper, ceruloplasmin, purine, oligosaccharides and a few other items. Because of the low copper, it is possible that Bertrand has a mild case of Menke's or another rare disease I couldn't pronounce much less spell. (I was unable to take notes due to Bertrand's protests.) However, since Bertrand has abnormal liver function and copper is processed in the liver, this could be throwing the copper values off.

It is also possible that Bertrand has abnormal oligosaccharides because of his age. Apparently oligosaccharides are elevated in some babies for no known reason and normalize over time. Dr. Longo wants to see if their levels are decreasing similar to the AFP and liver functions. The AFP is markedly lower and B's liver functions, while they went up this past test, have been going down over time as well.

Bottom line, while Dr. Longo said Bertrand's MRI was unremarkable, Bertrand will need another in a few months and still needs to be followed closely because he still "looks" genetic. Dr. Longo really wants to figure him out and not just because of our family planning concerns. I think this visit did a lot to peak Dr. L's interest because Bertrand's case is getting even more atypical. As if that was even possible. :-P

In other news, even though Bertrand has tested out of vitamin B deficiency multiple times, we'll be trying some folic acid supplementation just for the heck of it. It won't hurt him, so we'll test it out for a month. If it helps him, it'll be a good clue and we'll keep refilling the prescription.

Lastly, our travel arrangements to the NIH were finally confirmed today! We'll be heading out July 13th at around 10 am and this is the first time Bertrand gets his very own seat on an airplane! My lap is happy about the news. :) Bertrand and I are excited about finally meeting Carrie and Hannah while we are at the NIH. Carrie is a fantastic person, as is little Hannah. I just wish we were meeting under a different set of circumstances.

Ruled Out: Neurotransmitter Disease & More

I'd like to start with an important tip for any patient or parent thereof: be aware of your lab work. It is vital to know the following about labs:

1. When is the sample collected? (This is frequently used in the identifier like: 4/20/09 AFP.)
   
2. When is the sample sent out? (Many labs can't send out after 3PM so it may be next day.)
3. When is the sample received? (Usually the day after it is *sent*, but not always. Fresh samples may have to get there within 2 hours otherwise it is void. Other things, such as clotting and contamination can also void the test--and they won't always tell you!)
4. What is the substance? (plasma, red blood cells, white blood cells, cerebrospinal fluid, urine, tissue, etc.)
5. What lab is it being sent to? (Essential for follow-up. Don't trust your send-out lab.)
   
6. What is the turnaround time? (If weeks, do they count business days only? 2 weeks may actually mean closer to 20 days.)

This may sound anal-retentive to a lot of people out there. But, when it's your kid's life on the line, it is not. When a child has an approximately five-year life expectancy, even a few days delay is intolerable. I can't even tell you how many times (safely 10+ times) this knowledge about Bertrand's labs has shaved days or, such as today, weeks of uncertainty in B's case.

Today, after our Primary Childrens Medical Center lab said to give results a few more weeks, I followed up with Medical Neurogenetics, Inc., the Atlanta based laboratory running the neurotransmitter metabolites panel for Bertrand. Turns out that they had already faxed the results back LAST WEEK. The paper was just sitting in a pile somewhere at PCMC waiting to be scanned in--which can take weeks. So, I had the results faxed directly to Dr. Longo.

Dr. Longo being the fabulous clinician (AND researcher) that he is, and in spite of being out of town at a conference, let me know within minutes that the result was normal and that Bertrand's purine panel returned normal again as well. He is now thinking about next steps. (I call Bertrand my man of mystery!) But, the normal neurotransmitter metabolite panel means Bertrand doesn't have a pediatric neurotransmitter disease such as:

• Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
• Tyrosine Hydroxylase Deficiency (TH)
• Aromatic L-Amino Acid Decarboxylase Deficiency (AADC)
• Guanosine Triphosphate Cyclohydrolase I Deficiency(GCH I, GTP
• Cyclohydrolase, GTPCH)
• Sepiapterin Reductase Deficiency (SR)

As mentioned before, the normal purine panel means no Lesch-Nyhan, but it also rules out quite a few other diseases, such as those listed below in case you are curious.

Disorders of Purine Salvage

• Lesch-Nyhan syndrome
• Adenine phosphoribosyltransferase deficiency

Disorders of Purine Nucleotide Synthesis

• Phosphoribosylpyrophosphate synthetase superactivity
• Adenylosuccinase deficiency

Disorders of Purine Catabolism

• Myoadenylate deaminase deficiency
• Adenosine deaminase deficiency
• Purine nucleoside phosphorylase deficiency
• Xanthine oxidase deficiency

Disorders of Pyrimidine Metabolism

• Uridine monophosphate synthase deficiency

Genetics, assistive technology & May travel

This morning, Dr. Vandana Shashi, the geneticist from Duke University, called me. She, being the amazing doctor that she is, presented Bertrand's case to the entire genetics section at Duke! She was able to use the video that Dr. Eddie Smith (neurology) took to showcase Bertrand's movements and features. They are still befuddled but, as a team, they came up with some other tests they'd like to have run for Bertrand's spinal tap next Monday. Here is the email she wrote to Dr. Longo aftee speaking with me.

Dear Dr. Longo,
I am the medical geneticist who saw Bertrand Might last week. Your note on him was very helpful. As you know, it has been a challenge to find a unifying diagnosis for his features despite so many people thinking about him. I hope you don't mind me doing this, but I have a list of tests below that may be helpful. We have met here as a group after evaluating Bertrand and had some suggestions for further testing. Some of these can be done in a stepwise fashion, if the ones pending now are negative, but as you may agree, for CSF studies it would make sense to do all at the same time. I have listed the suggestions below, with the understanding that you may have thought of these already.

1. CSF studies- in addition to the neurotransmitters, get amino acids (simultaneous plasma AA), glucose (plasma as well), lactate.
2. Skin biopsy- send out for mitochondrial panel (Baylor)
3. DNA for Batten's disease (NCL)
4. Blood for mass spectrometry for the carbohydrate deficient glycoprotein disorders (Greenwood)
5. Urine creatine
6. MECP2 sequencing if microarray is normal
7. Urine polyol
8. Chromosome breakage studies

His mother told me that Allgrove syndrome and Menkes are being considered as well.
Please let me know if I can do anything else.

This afternoon, Bertrand and I went to The Utah Center for Assistive Technology (UCAT). At UCAT, Bertrand was evaluated by Scott. We tried a bunch of switches, switch adapted toys, and other goodies. Bertrand was not in the most receptive mood (he was pooping), so we'll try to go back sometime next week with Matthew. This is really Matthew's area. A lot of the programs and toys are so simple, it may be cheaper (and more fun) to rig things ourselves.

In our very first apartment, over 6 years ago, Matthew used X-10 to wire everything from the lights to the tv, stereo, coffee pot... you name it. We could turn it all on or off remotely--via web. At the time, I rolled my eyes. Now, we have to do it again, but for Bertrand, so the project will include placing mounted wireless switches in his crib, play areas, and eventually his gait trainer. I think Bertrand's daddy, grandfathers and uncles will have a blast with this!

At UCAT, I was fortunate enough to find out from Scott that there is a new cyber Pre-K in Utah! I gave him my email so I could get more information. I just love the cyber school concept. I'd been introduced to K12 before, and think it'd be a perfect fit for a special needs child like B. Since they have open enrollment here, I am going to see about putting him on the waiting list now, so, if he makes it to age 3, he could attend the cyber Pre-K.

Lastly, I finalized some of the dates we'd be visiting our family in Georgia. We'll be in the peach state from May 7 through the 17th to attend Bertrand's Uncle Booj's commissioning ceremony. Mother's Day will be spent at St. George Village with B's great grandparents, Bud and Rosina. We'll also be spending some time in the Blairsville area riding trains and playing with friends and cousins on Lake Nottley. Maybe we'll even swing by Augusta--who knows? :)

Skin Biopsy, Pharmacy, Lab Work & More

Bertrand saw Dr. Longo this morning for a skin biopsy. After applying local anesthesia to the area, Dr. Longo took a pencil eraser sized chunk out of Bertrand's right buttock. Bertrand slept through the actual biopsy portion. This is of course after he pooped on the table and proceeded to pee all over Dr. Longo's nice white lab coat. That about covers what Bertrand thought of the entire experience. ;)

After that Bertrand and I went on the great seizure medication quest. Two more pharmacies and still no meds. His prescription calls for a non-standard dosage because he is small. This has caused me grief. Finally, the University of Utah hospital pharmacy said they could make them... by Thursday. It's a good thing Bertrand doesn't actually need them yet!

After that we were off to the outpatient lab. And, yes. My son, he has the stigmata. They had to poke 4 times (both hands and both arms, no feet this time) to get all the blood they needed. We got two of our favorite lab techs (Joel and Renee) since it takes three people to hold Bertrand down. As tough as it was, we managed to get a lot of smiles from Bertrand--and draw the blood.

The labs (many are repeats) and expected turnaround times are as follows:

1. Copper: 1 week
   
2. Ceruloplasmin: 1 week
   
3. CLN1 & CLN2: 1 week
   
4. ACTH*: 1 week
   
5. GM1 (Seattle): 7-10 days
   
6. Arylsulfate (Seattle): 2 weeks
7. Purine Panel (Baylor): 7 days
   

The skin biopsy will be cultured for 2-3 weeks at the ARUP lab before being sent to the University of Alabama. From then it'll take an additional 2-3 weeks to run the tests.

*Adrenocorticotropic hormone (ACTH or corticotropin) is a test I requested.

Last Saturday Bertrand rolled off the bed, got hurt and cut his lip. He was screaming so loud and hard that his face was blue, but there were still NO TEARS. I finally had enough and spent a day researching that condition; it's called alacrima. It ranges from no tears to blistered corneas and can be caused by very few things, one of which is called Allgrove syndrome.

Allgrove is another VERY rare genetic condition. It is also called Triple A Syndrome because it is characterized by Alacrima, Achalasia (difficulty swallowing) and Adrenal deficiency. We know Bertrand has difficulty swallowing and choking--his swallow study is next Tuesday. The ACTH would measure the adrenal (un)responsiveness, which is why I want the result.

People with Allgrove can have ataxia, movement disorder, neuropathy, optic nerve atrophy, developmental delay, abnormal EEG, small head for height... all of which Bertrand has. About the only thing he doesn't have is failure to thrive--his "problem" with a lot of tentative diagnoses. :) Most interestingly, it disproportionally affects Puerto Ricans! This is the first disease for which we have a known genetic basis.

Treatment for Allgrove would be relatively simple: a steroid like prednisone. (And of course extensive therapy to try to work around the damage which has already occured.) However, it is worth keeping in mind that alpha-fetoprotein, ALT, AST, and oligosaccharides should all be normal for Allgrove. These are all elevated in Bertrand. Regardless, I am fostering that evil little emotion called hope again. :)

Ruled Out: Lesch-Nyhan Disorder

We got the Metabolic Clinic Medical Report in the mail today. Included with the report were some lab results I hadn't seen yet--in particular the uric acid test results. Bertrand's uric acid came back normal, which discounts another dreadful disease called Lesch-Nyhan Syndrome. So, it's back to the drawing board--or rather--back to medical imaging.

The MRI next week (4/8/09) will really be able to tell us what direction to move in. MRI gives information about the structure of the body (the distribution of water and fat). With the MRI he'll also be getting a MR spectroscopy and a MR angiography. The Magnetic Resonance Spectroscopy is used to obtain biochemical information. The Magnetic Resonance Angiography is used to generate images of the arteries.

A procedure that, while not for a diagnosis, may help guide Bertrand's treatment is a Lumbar Puncture (LP)--also known as a spinal tap. As mentioned in a prior post, Bertrand's prolactin levels were elevated. The movement disorder portion of his presentation could be caused by too much neurotransmitter--which is treatable. I am certain that reducing his involuntary movements would decrease Bertrand's frustration and improve his quality of life.

Laboratory Results 03/17/2009

The first test results from Dr. Longo's lab orders are in. So far, it looks like all the low hanging fruit (what would be easy fixes) are normal. Given his average prolactin results, Bertrand may no longer need a spinal tap.

• Biotinidase enzyme: TBD
  
• Uric acid: 2.0 (Normal range 1.8-5.0)
  
• Prolactin: 18.3 (Normal range 2-25)
  
• Ceruloplasmin: 18 (Normal range 14-44)
  
• Copper: TBD

I'll be checking back with the University of Utah lab tomorrow on the biotinidase and copper. I will also be calling Baylor tomorrow regarding turn around times for their lysosomal testing. (I tried calling tonight, but they were not open.)

Puzzles and Nightmares

We saw Dr. Longo today. Dr. Longo was intelligent, engaging and professional. He was puzzled by Bertrand's presentation. He couldn't offer any immediate answers, and he was able to rule some lysosomal storage disorders less likely based on his appearance. He ordered a battery of tests and re-tests.

When pressed, his prognosis was quite grim. Most devastating was that he didn't seem to believe that cord blood or bone marrow would be a good option, given the outward indications that brain damage had already occurred. On the other hand, he did mention the possibility of enzyme therapy augmented by "chaperone therapy," in which a chaperon molecule would be used to improve the half-life of externally injected enzymes and to possibly allow the enzyme to cross into the brain.

Immediately after the meeting, Dr. Kurtzberg at Duke told us that his MRI from 8 months was not normal, as had been previously assumed and that her team could

"see changes in the periventricular and subcortical areas that could be
consistant with a mucopolysaccharide disorder or a leukodystrophy"

Needless to say, we'd like to fly Bertrand to Duke ASAP. Too much time has already been lost. We might get the same answer there--that we're too late--but we have to try.

Biopsy Scheduled & More

Bertrand's liver biopsy is scheduled for April 1st. Due to his movement issues, he'll get his blood drawn the day before. The day of at 11am, he'll have a liver ultrasound which will help determine where the biopsy should be taken. Then at 2pm, he'll have the needle biopsy and stay overnight for observation (to make sure there is no internal bleeding).

Dr. Book's office (gastroenterology) still will not schedule a follow-up appointment. I am frustrated, puzzled and a little bit angry at how they run things there.

We have an appointment this Thursday with Dr. Samson-Fang, Bertrand's pediatrician. She is eager to isolate which particular LSD Bertrand has. She'll be in touch with us again tomorrow.

With the last email I sent, I finished clearing my schedule of non-Bertrand obligations. Even other people's schedules are changing for Bertrand. My aunt Mimi was going to vacation in Vail, CO for a few days, but now she is now coming to us! This way she can see her favorite little man and Bertrand can finish his testing here in Salt Lake City.

Next Steps & ROADTRIP! :)

Even though the National Ability Center wasn't open today, I still left a message with Kim Desautels (an occupational therapist) there regarding starting hippotherapy with Bertrand. Since he loves moving, he'd enjoy being on a horse!

I also downloaded and completed the Shriners Hospital for Children application, so we can start Bertrand on additional physical therapy. Hopefully, his pediatrician will endorse it some time this week so we can get him started as soon as possible.

Tonight, I'll be sending some emails to Drs. Samson-Fang and Longo. I think Dr. Book is a lost cause--the disregard her office showed me and Bertrand last Friday (and every step of the way through this process of diagnosis) is appalling. We're getting a new GI doctor. Grr...

And, Monday, I want to hit the ground running with the additional lab work, including the mass spectrometry and blood/fibroblast analysis. Our goal is a diagnosis by the end of the week. A liver biopsy shouldn't even be necessary.

In much more fun news, we are planning a trip to Chuck E Cheese's and a roadtrip to Colorado over spring break! Bertrand will stroll through Arches National Park, splash in the Glenwood hot springs, hobnob in Vail, and eat yummy food with 3 of his aunties (Mimi, Saby & Beli)!

View Larger Map
View Larger Map

P.S.--I desperately want a camcorder. One might fall into our cart the next time we visit CostCo. I want to record every moment of Bertrand's that I possibly can.

A Grandfather's Take

I went to my office this morning and then to the library. In my own reading it is still peculiar that Bertrand does not seem to exhibit the characteristic changes of patients with oligosaccharidoses. He does not have a coarsening of the facial features, his bone strcture is normal, he does not have enlargement of the liver or spleen, no hearing loss, big tongue, etc., etc., etc.

In regards to diagnoses I read the following from the first volume of Pediatric Neurology: Principles and Practice (4th ed) ed by Kenneth Swaiman:

Patients with glycoproteinoses have excessive urinary excretion of oligosaccharides, the pattern of which can be discerned by thin-layer chromatography. More recently, electrospray ionization-tandem mass spectrometry has been used to dientify characteristic oligosaccharides profiles from small samples of urine, plasma, or whole blood spotted onto filter paper (Ramsey et al. 2003). However the diagnoses of the particular underlying enzyme deficiency still requires the performance of relevant biochemical assyas on leukocytes or cultured skin fibroblasts.

Ramsey SL, Meikle PJ, Hopwood JJ: Determination of monosaccharides and disaccharides in mucopolyshaccharidoses patients by electrospray ionization mass spectrometry. Mol Gen Metab 2003;78:193.

There was no mention of a liver biopsy.

I think the first step is to see whether the thin layer chromatography was performed on the urine.

--Manuel F. Casanova, Bertrand's Grandfather

The Results Are In

"In this sample abnormal oligosaccharide bands were present if clinically stated (manifestations consistent with underlying lysosomal storage disease) consider ruling out oligosaccharidosis."

Sadly, this indicates yet another degenerative, non-treatable diagnosis. Hopefully, as we work toward figuring this out, that will not be the case. I have been in contact with Dr. Linda Book and Dr. Lisa Samson-Fang's offices. Hopefully, one of them will get back to me today.

The Oligosaccharide Test - Still No Result

The result from the urine oligosaccharide test still has not come in. I will be checking back in with the lab in the morning. However, today I learned that for the oligosaccharide screen there tend to be false negatives, not false positives. Since Bertrand's screen came back positive, we are hopeful that our search for a diagnosis is coming to a close.

Saccharides and Such

Being the impatient person I am, I called the Intermountain Lab today to see if Bertrand's urine test result was in. It is not, but it'll be back in 5-7 days. The sample was sent to the Mayo Clinic Laboratory. Since a lot of you have asked, I don't know the full name of the test, but it was called something "saccharides".

Now for some good news! Bertrand's alpha-fetoprotein level is down to 85.4!!! (The normal range is from 0-15, but his level is down from being the 1,000s.) Other news is that his ALT is 318 (normal range is from 5-45) and his AST is 184 (normal range is from 20-60). I believe those two values have stayed fairly constant.

Hopefully, we are converging on a diagnosis. I'll be bugging the Lab again on Tuesday to see if they've received the urine test result.

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.