Lymphoblastoid Cell Line

In Sanford-Burnham’s Conrad Prebys Center for Chemical Genomics, scientists use robots like this one to test hundreds of thousands of chemical compounds on lymphoblastoid cell lines in search of tomorrow’s new medicines.

We received word this morning that Bertrand's lymphoblastoid cell line (LCL) has finally been established at UCLA!

LCLs are used as a model system to study the genetics of gene expression, drug response, and other traits in a controlled laboratory setting.

With a somatic mutation rate of 0.3% and ease of cell maintenance, lymphoblastoid cells are still the preferred choice of storage for patients' genetic material.

In Bertrand's case, the LCL will be renewable source of his genetic material (no more blood draws!) so researchers around the world can study N-glycanase deficiency.

Bertrand's team of researchers will be able to use his LCL within the Conrad Prebys Center for Chemical Genomics to rapidly test thousands of existing FDA approved compounds to see if there is any drug already on the market that will increase his amount of N-glycanase expression or increase his rate of glycoprotein degredation.

Wow.  Welcome to the future.  :)  Happy thanksgiving!

A pleasant genetic appointment!

Bertrand takes his official ring bearer training VERY seriously!

Bertrand's "good news" roll continues! At today's genetic/metabolic follow-up, Bertrand was found to be "improved", much to the puzzlement and pleasure of his geneticist.

(I was over-the-moon when he declared Bertrand "stable" 6 months ago, so you can imagine my joy at hearing the word "improved"! And follow-up in TWELVE whole months!)

We discussed additional genetic testing, but decided to wait as these tests would be subsumed by the results from Bertrand's full genome sequencing being done at Duke University.

Given that Bertrand has responded well to treatment, a battery of blood tests were drawn to identify new treatment options such as supplements and hormone therapies.

Fortunately, these are not an option for Bertrand because all of his hormone blood levels have been found within NORMAL range! Including Bertrand's AFP for the first time!

• AFP 6.5 (normal range: 0-15)
• Vitamin D 80 (normal range: 30-80)
• Prolactin 15.1 (normal range: 1-16)
• TSH 2.40 (normal range: 0.7-6)
• Free T4 1.18 (normal range: 0.7-2.4)
• Cortisol 10.6 (normal range: 1-23)
• ACTH*
• IGF 1*
• IGF-BP3*

(* Signifies a pending result.)

Bertrand's weight, however, was NOT in normal range. At 39 lbs. 10 oz. he is obese, and he has to be about 10 lbs. lighter! Bertrand needs a weight loss regimen, so the dietitian, food diary, gram scale, and calorie counting are baaaaaack.

(I had a talk with Bertrand regarding the merits of crawling, because I hear that weight just flies off kids once they do, and then Mama won't have to limit his food. I'd like to believe he is taking my suggestion under consideration.)

A Mothers' Day Video Message

Dear Mothers,

Before Bertrand, I always assumed that it was thanks to mothers that there were children. Now I know that it is really thanks to children that there are mothers. To me, that distinction is an important one. Motherhood is not about being the center of a child's world, but rather about having a child at the center of yours.

It is safe to say that Bertrand is at the center of more than just my world. As grandmothers, great-aunts and aunts, I know you share in the pain of Bertrand's continued suffering and the uncertainty of his situation. So, our mothers' day gift to you (and myself) this year is particularly meaningful: a $1000.00 donation to the Bertrand Might Fund for the University of Utah Rapid DNA Sequencing Center. We hope this gift is the first step in obtaining answers for mothers everywhere and, someday, cures for their children.

The University of Utah Rapid DNA Sequencing Center is the first of it's kind in the world. Imagine if Bertrand had been able to avoid the scarring of his veins from getting 4 pints of blood (the equivalent blood in 16 newborn babies) drawn over the past two years. Imagine if Bertrand could've avoided the over $50,000.00 in genetic tests he's had with just one $5,000 rapid DNA sequencing test. This is the opportunity the center providing to other children in Bertrand's situation, one of suspected genetic disease. And as for Bertrand? We hope that with additional contributions to his fund, he will be one of the first "test" cases for the Rapid DNA Sequencing Center when it opens in September 2010.

Combined with the testing of Matthew and myself, geneticists may be able to determine where Bertrand's genome differs from ours or how it fits within existing genetic disease frameworks. We may finally receive answers: answers that could help us plan for Bertrand's future as well as our own.

That I may be finally able to plan for the future of my precious child (and that he may even have a future!) would be a priceless gift--one we would all enjoy and one that Bertrand certainly deserves.

Happy mothers' day!

Super Dad

As you can probably tell from our blog inactivity, the last few weeks have been unusually challenging for Bertrand (and me) due to his broken arm. Today was even tougher than usual, but fortunately for us, we had Super Dad on hand. Matthew really put his Family Medical Leave to work today! He started the day off by preparing Bertrand's keto meals ALL BY HIMSELF and then attending a 3-hour mandatory parent training session at the Carmen B. Pingree Center for Children with Autism (Bertrand's preschool)--during which he took notes. Then Matthew dealt with home repair issues--including buying a new water softener since the old one flooded our basement. After that we headed up to Primary Children's Medical Center (PCMC) where we all met with Bertrand's keto team. And Matthew topped the day off perfectly by "cooking dinner"! (Read: "bought McDonalds". Hey! It still counts!)

Anywho, Bertrand is capable of having at most 3 "seizure free" days in a row at a 3.5:1 ketogenic ratio. This is a fantastic improvement, but we'd like to see him completely seizure free if possible. If the labs which were ordered today look good, then we can go forward with a 4:1 ratio for the next month and see how his EEG looks on March 26th. From there we will know if we have to stop the diet temporarily to try the so-called "beast killer", ACTH. (You may remember hearing about ACTH earlier on our blog as the treatment for Allgrove Syndrome.) However, resorting to ACTH, or even a lesser steroid like prednisone, has been compromised by Bertrand's recent arm break. Steroids weaken bones, (one of our neuro's patients on just prednisone fractured 4 vertabrae) which is not good when bones are already weak. We'll be consulting with B's orthopaedic surgeon regarding the steroid option.

Bottom line: lab tests and blood draws will continue to be an important part of Bertrand's life for a long time to come. So, at the lab this afternoon, Bertrand needed 25 mL of blood drawn and after 4 pokes he had ZERO mL of blood to show for it. We have to return tomorrow afternoon and hope the poor little guy has better luck. Labs that are being drawn include: SCN1A (gene test, results in 6-8 weeks), Iron, (due to restless leg), Vitamin D, Selenium (both due to the ketogenic diet) and Bertrand's usual comprehensive metabolic panel.

School, sleep apnea and more

For those who missed it on Twitter: Bertrand watching an Elmo video on an iPhone.
Our first easy meal at a restaurant!

Tomorrow begins my carefully orchestrated week of daily visits to Carmen B. Pingree with each of Bertrand's therapists. Bertrand's therapists will be training the staff at CBP on his quirks, strengths, and how to integrate what they've been working on with him into his lessons at CBP. The staff-to-student ratio at CBP is 2:1, but Bertrand will be getting his very own 1:1 aide. To prevent him from becoming overly dependant on an individual, everyone has to be trained so they can rotate through with him. Bertrand starts school on February 8th.

Bertrand's sleep study results came back this past week. I've been more bummed about them than I really should be. I guess I'd convinced myself that sleep was one area in which he excelled. Turns out that Bertrand has 3.9 apnic episodes per hour. Kids under age 10 are suposed to have less than 1. He barely enters REM sleep, which is an important sleep state for memory and learning. He also has restless leg syndrome. In my opinion, this is all seizure related. I don't see the point in removing his tonsils. Control of the seizures will improve his sleep quality. That is what I am telling myself. We'll do another study in a year.

Iron deficiency can be one of the causes of restless leg syndrome, since iron is essential for dopamine transmission. We'll be testing Bertrand's iron levels, along with vitamin D, selenium, usual metabolic and liver functions, as well as the genetic test: SCN1A. SCN1A is the gene associated with over 80% of the cases of Dravet's Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI). Let's hope this is another genetic test that comes back negative, but if it comes back positive this would open the possibility of using an orphan drug like stiripentol.

On the keto front, I'll be picking up Bertrand's fancy-schmancy compounded keppra Rx (400mg twice a day) from University Pharmacy tomorrow! It is being made with stevia and the taste of vanilla (mint, chocolate and marshmellow were the other non-carb options). Also, we've gotten the green light to up Bertrand's ratio to 3.5:1!--a 50/50 mix of KetoCal 3:1 and KetoVolve 4:1. We need to wait another week before shifting ratio to ensure we've seen all we are going to from the keppra increase. Then we have to wait more time before adding the branched chain amino acids! Yes, we got the yellow light for the BCAAs! Our dietitian is currently researching what the appropriate therapeutic dose for Bertrand would be.

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

Nightmares and a Negative Test Result

The past few nights Bertrand has been having nightmares. Last night was particularly bad with Bertrand just wanting to be held as he fell back asleep, not put back to bed. Because Keppra may cause nightmares and psychotic episodes in a small number of children, it could be tempting to blame the medication. However, Matthew and I would rather view the nightmares as a sign of progress!--that Bertrand is now cognizant enough to have fears and, therefore, have nightmares. :) Naturally, we will be keeping an eye on the nightmare trend just in case it is a side effect of the medication, but normal children his age have nightmares, so why shouldn't he?

Today I spoke with the amazing Kelly Schoch, Bertrand's genetic counselor at Duke University. Bertrand received a negative test result for a mutation in the AAAS gene. A mutation in the AAAS gene is responsible for 50% of the cases of clinical Allgrove syndrome. While a negative result doesn't rule out Allgrove, Matthew and I aren't interested in chasing down this rabbit hole unless Bertrand begins to exhibit at least one other hallmark symptom (such as achalasia or adrenal insufficiency) in addition to the alacrima. Dr. Stratakis, the world expert on Allgrove syndrome at the NIH, said Bertrand doesn't have Allgrove, so for now, that is fine by me.

One additional option for genetic testing which Kelly presented involves the SCN1A gene. It's crazy how these gene designations are starting to make sense to me, but of course the SCN1A involves sodium channels. (I must of read about it somewhere because it is too weird that this was my first guess.) It is associated with a large range of hereditary seizure disorders and even some hereditary migraines. Duke has a stored sample of Bertrand's DNA, so sending out for the test would technically be easy. However, given that all genetic tests are not cheap, we need to ask, what is the point in knowing this SCN1A result?

For family planning? Not really, because no one else has epilepsy in our families. Bertrand is still most likely a de novo (new) mutation, so it wouldn't be inherited by any of our other children. For treatment? Not really, because we're already implementing the ketogenic diet and treating the seizures in the same way one would in the case of a SCN1A mutation (with liver issues). For plain old knowledge? Bertrand is our son and we love him more than anything in the world--that's all the knowlege we need. No test result will change that.

A Good Day

Flu Shot
Done! Bertrand's requirements for hospitalization in November are now fulfilled! But, the poor nurse vaccinating Bertrand experienced my special-needs-mommy-warped sense of humor.

• nurse: "Due to the seasonal flu vaccine shortage, we only have vaccines with Thimerosal available. Is that alright?"
• me: "That's the mercury, right?"
• nurse: "Yes."
• me: "Hahaha! He already has autism and seizures. Mercury is the *least* of his worries. Go to town."

Allgrove Syndrome
Pending. They said to try back in another week. The test is supposed to take from 6-8 weeks, and is very rare, so I guess we'll get results back closer to 8 weeks. At least from a customer service perspective, GeneDx is the best genetic testing lab I've dealt with. In the future, if we ever have to do prenatal testing, I want it done through them.

Epilepsy Conference
Attending! November 14th the Epilepsy Association of Utah Presents: Educational Conference 2009. Admission is free. It will be at East High School (840 South 1300 East, Salt Lake City, UT 84102) from 9 am - 1 pm. Registration begins at 8:00 am.

Topics will include:

• Basics of Epilepsy
• How to participate in the IEP team
• Women and Epilepsy
• Handling caregivers stress - Q & A Session
• Dravet and Febrile Research - New answers
• Disability Laws how do they affect me?
• And Much More

Autism Conference
Attending! November 18th and 19th the Carmen B. Pingree Center Presents: Parent Conference Fall 2009. Cost is $25 an individual or $30 per couple. It will be at the Carmen B. Pingree Center (780 South Guardsman Way, Salt Lake City, UT 84108) from 8:30 am - 3 pm. Registration begins at 8:00 am.

Matthew has to teach on November 19th (the only day I want to attend if Bertrand is out of the hospital), so my fabulous friend Lynn offered to babysit so I could attend! Thanks, Lynn!

Sessions I will attend include:

• SpecialCare: Budgeting for everyday needs, as well as, long term financial security.
  
• Understanding Individual Education Plans (IEPs): How and why schools use them and how to obtain one for your child.
  
• Information and advice on enrolling your child in special education services with the Salt Lake City School District.
  

Speech Therapy
Successful! At 45 minutes this was Bertrand's longest session ever! Bertrand can usually only make 20-30 minutes before his frustration becomes insurmountable. Today he displayed his ever-increasing attention span and his improved motor control. I am so proud of my son!

Home Refinance
Done! I still don't quite believe it, but we finally signed our refinance papers today. It only took 10 months, 6 loan officers, countless phone calls and emails, not to mention a few tears of anger/frustration on my part. But, it's done! All of that effort was worth the $400-500 extra we'll save each month! It'll all happily go to KetoCal. :) It still amazes me that we own a home with a yard for so little more than what we paid for our tiny apartment with a gravel patch in Atlanta.

Today has been a good day. :)

FINALLY! MECP2 Gene Test Results!

"Rett Syndrome: Negative. No mutations detected in the MECP2 gene."

While I'll admit I did a 5 second happy dance, unfortunately, this is not as straightforward as it seems. (A) While MECP2 mutations count for something like 95% of all Rett syndrome cases, there are two additional genes it could be. (B) The fact that Bertrand is MALE and ALIVE and NORMAL 46XY means that if he did have Rett, he has a form of somatic mosaicism: part of his body has the mutated gene while the other part of his body does not. His blood, the part of his body on which the gene was tested, could simply be part of the portion of his body with the unmutated MECP2 gene.

Interesting Progress

Today at play group, I was playing with Bertrand's best friend Kevin, and I made the mistake of picking Kevin up in Bertrand's line of sight! Oh my! Did I ever get the most heartbroken, "you hurt my feelings" wail from Bertrand! B immediately calmed down once I picked him up and gave him a hug, and I couldn't have been happier! My baby finally got jealous! I think this is a milestone. :)

In other news, I mentioned the possible Schinzel-Geidion and Rett diagnoses to Laura, B's speech pathologist. She had never heard of SGS, but works with several girls with Rett syndrome. She was shocked at first, since Retts tends to be female only, but then commented on how Bertrand's movements are identical to her patients'. Laura is now just as curious as I am about Bertrand's MECP2 (the Rett gene) testing!

What are the NIH results?

To be clear, Bertrand's blood was drawn at the NIH and they're running tests to try to confirm or deny both the Schinzel-Geidion and Retts Syndrome suspicions. We'll know those test results within 3-4 weeks. Earlier than that, however, we'll be receiving a report (2-3 weeks) and photographs (1-2 weeks) of Bertrand. The report will contain the opinions of Drs. Stratakis, Raygada and Rennert and their recommendations, including conducting a 24 hour EEG and prescribing anti-seizure medication. The medical photography of Bertrand should be cute (his face, profile, hands, feet, etc.) so I can put it on the blog once I get it.

Ruled Out: Glycogen Storage Disease Type IV

We just got word back from Bertrand's genetic counselor, Rena, that the result for Glycogen Storage Disease Type IV came back negative which is good news. This is another very rare hereditary metabolic disorder that results in liver failure and death usually within the first year of life. Based on my research, I wasn't concerned but it's nice to have it officially ruled out.

Ruled Out: Lots of Bad Gene Mutations

The last set of results from Duke University are in. Bertrand has now tested normal for the following genes:

• SETX - mutations cause ataxia with oculomotor apraxia among others
• DGUOK -mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form
• APTX - mutations cause ataxia with oculomotor apraxia among others
  
• POLG1 -mutations cause alpers syndrome among others
  
• MPV17 - mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form

This is fantastic, if confounding, news! We just have a few more lysosomal storage and mitochondrial disease tests pending before Bertrand is officially über rare.

Ruled Out: CLN1, CLN2, GM1

Ceroid lipofuscinoses, neuronal (CLN) are a group of fatal, autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. So, we're happy that CLN1, the infantile type (Santavuori-Haltia disease; MIM 256730), and CLN2, the late infantile type (Jansky-Bielschowsky disease; MIM 204500), have been ruled out!

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate. Since GM1 has important physiological properties and impacts neuronal plasticity and repair mechanisms, the release of neurotrophins in the brain and is fatal, we are glad that this disorder is also ruled out (again--this was a retest).

Today, I found out that Bertrand's purine panel results are back, but not what they are. I also heard from Kelly Schoch, a geneticist at Duke with Dr. Shashi. Kelly said that Bertrand's microarray came back normal! His karyotype should be back later this week. After that, the only Duke results we are waiting on are: Nieman Pick Type C, Ataxia Ocular Motor Apraxia, and Mitochondrial DNA Depletion.

I also shared with Kelly and Dr. Shashi the results of B's CSF ACTH. Dr. Longo has said, "I am still not sure about the increased ACTH: ACTH as prolactin [B's prolactin is also elevated] is inhibited by dopamine and that might be the problem. I would wait on the neurotransmitters to see HVA levels in the CSF." So, baby-roids are on hold for now. ;) Tomorrow I'll check on the status/turn around time for the neurotransmitter metabolites panel.

After all this, Dr. Book's office called to schedule a follow-up. Bertrand will be seeing Dr. Book, gastroenterologist, on June 29th--the soonest available appointment. She will be reviewing whether or not Bertrand may now need a liver biopsy, since so many tests are happily resulting as normal. We also scheduled an appointment with Dr. Grimmer, otolaryngologist, for May 26th to check for narrowing of the esophagus.

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? :)

It's Not Ataxia Telangiectasia!

Great news came in today! Bertrand's DNA test came back negative. His condition is NOT ataxia telangiectasia. :) This is a huge relief for us. I will be speaking with Dr. Samson-Fang again tomorrow to discuss next steps.

Since AT was why his gastroenterologist was shrugging off the case, now that it has been ruled out maybe now Dr. Book will show some interest. We'll likely be getting new blood work drawn either Friday or Monday.

DNA Update and More

I spoke with Sabrina Ingram over at the Johns Hopkins DNA Diagnostics Lab today. She said that they received Bertrand's sample on January 15th. Contrary to what the U of U lab had said, the results typically come back between 10 and 12 weeks! Wow! However, she said, due to lower volume they *may* be able to get it back in 8 weeks. So, I'll be checking back in with her on March 12th and 26th.

In other news, we started transitioning B to cow's milk. He loves it. We'd like to get him down to just one formula bottle a day. The vitamins and minerals in formula are good, but they (especially the iron) can have a constipating effect. Since he's been eating very well recently, I think we can accomplish this by the end of the week, if not sooner.

I have been watering down Bertrand's formula and milk due to (a) the dry climate, (b) his constipation, (c) his low activity level and (d) his high liver enzymes. As adorable as his chubby cheeks are, if he could move around like a normal baby, he would've burned them off long ago. The extra weight is also a strain on his liver.

We have a meeting with Bertrand's early intervention case manager, Pat, next week on 03/02/2009. We also have speech therapy with Meghan the same day. Later in March we have an appointment with Dr. Samson-Fang on 03/25/2009 and another feeding clinic (occupational therapy) with Annie Miller, on 03/31/2009. His next neurologist appointment isn't until April.

While I am also touching base with Dr. Samson-Fang today, at our next appointment with her, we will discuss adding physical therapy at the Shriners Children's Hospital. For Spring, we are looking into two new therapy sessions: hydrotherapy (swim class) and hippotherapy (horseback riding).

UPDATE: Due to the President's Day holiday, I was not able to touch base with Dr. Samson-Fang today. I will call her office again tomorrow. Bertrand's blood work for February needs to be drawn and I really want to start the therapy at Shriners.

Laboratory Results & Talk with Neurologist

I just got off the phone with Dr. Ai Sakonju, Bertrand's neurologist. We discussed some of the early lab results and next steps.

Bertrand's alpha-fetoprotein dropped to 259.8! A second drop in a row--this is great news! (However, keep in mind, the normal range is from 0 - 15.) However, his ALT and AST (liver enzymes) stayed elevated. Which is odd.

The strep test results for Sydenham's chorea (which we weren't expecting for another two weeks) came back negative. So, it is not Sydenham's.

Dr. Sakonju was honest with us saying that when presented with Bertrand's case, gastroenterology says its neurology while neurology says its gastroenterology.

We discussed Bertrand's CT scan and its implications for gastroenterology. A liver biopsy was mentioned, but we will hold on further discussion until Dr. Book, Bertrand' GI doctor sees him in March. Given that the liver looked normal on the scan, a biopsy may not be recommended.

We also discussed Bertrand's positive reaction to the sedative during the CT scan and possible medication. This conversation will also wait until we get the AT results back or the next time we see Dr. Sakonju in office.

Dr. Sakonju would also like to see a CT scan of the brain to look for calcifications in the basel ganglia. She mentioned looking at Tay Sachs disease (apparently it is not just a Jewish disease) and other metabolic disorders. Again, this will be after the results for the AT DNA test come in.

I discussed other possible genetic/chromosomal work with Dr. S. She said that while we may eventually get there after we've re-ruled out metabolic, Bertrand doesn't fit the profile of a child with a chromosomal disorder. He is extremely symmetrical and well formed with no extra (or missing) pieces. He is a very beautiful, normal-looking baby.

As this post was written in a rush, I will probably add and edit it later this evening.

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.

"Operation Diagnose Bertrand"

Last Tuesday, January 6, Bertrand saw a new neurologist,
Dr. Ai Sakonju. Dr. Sakonju is an assistant professor at the University of Utah School of Medicine. She works closely with Dr. Kathryn Swoboda, director of the Pediatric Motor Disorders Research Program in the U of U Department of Neurology.

On a personal note, Dr. Sakonju has a baby a few days older than Bertrand. She seems to be super high energy. The word I'd use to describe her: bloodhound. The deeper Dr. S. pried into Bertrand's case history, the more enthusiastic she became. Both Matthew and I left the office with the hope (premonition?) that we finally met the person who will put all the pieces together.

We discussed a tiered plan of action. (I call it "Operation Diagnose Bertrand".) The first step involves testing Bertrand for Sydenham's chorea. Sydenham's results from childhood infection with Group A beta-hemolytic Streptococci -- strep throat in Bertrand's case.

(At six months old, Bertrand contracted strep at a wedding in Florida. We were extremely fortunate that it was correctly diagnosed! Strep is extremely uncommon in infants. We came very close to walking out of the doctor's office with a diagnosis for croup, a common infant ailment, which is treated with steroids, not antibiotics. This would have been a potentially fatal mistake.)

If positive test results return for Sydenham's, we will throw a party and I will cry from joy. While not good, it is a treatable condition and will likely diminish with age. We'd have to check right away for heart valve damage. And, due to his elevated ALT and AST levels (liver enzymes) and alpha-fetoprotein (another liver byproduct), the treatment Bertrand would likely by placed on is valium. (This is in addition to his current physical therapy and occupational therapy regimine.) The valium would reduce the involuntary muscle movements (chorea) enough for Bertrand to finally be able to learn how to use his little body. Valium would not be the doctors' first choice if it weren't for Bertrand's troublesome liver.

Step Two in "Operation Diagnose Bertrand" involves learning more about his liver. He has already undergone a liver ultrasound, but a CT scan will provide more important information, such as blood flow and detailed tissue differentiation. We will be working again with Dr. Linda Book, who had previously found his liver normal. (At the time, Dr. Book believed Bertrand's case was one of ataxia telangiectasia.) Depending on what we find or don't find, we may have to consider a liver biopsy.

Step Three consists primarily of ataxia telangiectasia (AT) genetic testing. This is a test which measures how DNA (taken from a blood sample) changes when exposed to radiation. There are lots of conditions which could make this test come back positive, so it is not a 100% conclusive test for AT. We'd have to look into conditions with a genetic genesis and keep an open mind. The world expert on AT, Dr. Thomas Crawford, has said (TWICE) that he does not believe Bertrand has AT. We keep hoping that Dr. Crawford is right!

Steps Four + will have to wait for the next post. To be continued...