Speech Therapist, Megan Boyd

I spoke with Bertrand's new speech therapist today. She will be coming out to do a consult in February. We are firming up plans with Kirsten Alberg, his physical therapist, on Monday.

Updates on Bertrand will be restricted to medical results/discussions, if any, over the next week. This morning I drove my little, baby pookie bear and his Nana to the airport. Bertrand will be staying with his Nana and Papa in Phoenix this next week as Matthew and I bounce from wedding to wedding.

While I know Bertrand will have a fantastic time in Phoenix, and I will be able to get a lot of work done in his absence, I couldn't help but cry on my car drive home. Not even 5 minutes apart and I already missed him. :(

Happy Little Trees... Yummy Little Food

Bertrand likes to play with his pictures.

In our ongoing efforts to expand Bertrand's palate, we've delved into the past to find techniques that work. When I was little, my mother would draw pictures to get me to eat. Turns out, it works for Bertrand too! Shapes, colors, funny faces... Bertrand enjoys the distraction from the peas. Therefore, he eats! I hope it keeps working. :)

New Speech Therapist

Kirsten called today for two reasons: (1) to see how Bertrand was doing with the taping therapy [still fussy] and (2) to see if it was alright with me to get the ball rolling on a new speech therapist.

Bertrand's speech therapy classes ended last year and new classes will start in the spring. From a social interaction standpoint, I like the classes. However, due to being the youngest child and his developmental delays, I am not sure the class setting is such a good idea. I don't want Bertrand to get overly frustrated or distract the other kids. A class for younger babies would probably suit him better--two year olds are just too advanced.

At the very least I want someone working with Bertrand one-on-one at his speed. Kirsten started on the paperwork, so hopefully in February we'll start seeing a speech therapist at home through DDI Vantage (the childhood early intervention agency for our county).

Kirsten wants Bertrand to start speech therapy because of a recent training she attended on autism. Bertrand shows many signs of autism in his sensitivity, focus and social response. She believes that, even if he is not ever diagnosed with autism, early intervention is key.

Therapeutic Kinesio Taping

Bertrand is making a lot of progress in his physical therapy. Today we tried something new. His therapist, Kirsten Alberg, was recently trained in therapeutic, pediatric taping. The particular style she is using is called Kinesio.

Look at that glowing therapy report! "Bertrand is doing really well."

The Kinesio Taping Method involves taping over and around muscles in order to assist and give support or to prevent over-contraction. After the Olympics this past summer, this taping therapy has really come into vogue.

Bertrand doing his best Mila Jovovich, "5th Element" impression.

To help with trunk stabilization, Kirsten taped his back muscles. The hypothesis being, that if his arms/shoulders are slightly retrained he may have an easier time with sitting. So far, Bertrand has just been extra fussy today. We'll see if he improves any tomorrow.

Bertrand, Le Gourmand

The conversion of minestrone into full, happy baby.

Today we found the trick to getting around Bertrand's picky eating: feed him cuisine. Turns out little Bertrand is a gourmand. Zwieback toast: no, no! Pyrenes Onetik Poivre Vert (a French/Basque cheese with green peppercorns): oui, oui! Homemade zuppa di minestrone Milanese: sì, sì!

Maybe baby food is too bland? He seems to love spices. And, no, he has not shown allergy symptoms to anything so far! The only symptom he is showing is increased appetite for solid food. :)

Thanks to Titi Mimi (pictured above) for the great cooking and inspiration!

First Real Sitter

Bertrand had his first real babysitting today. Matthew went out of town at 5AM instead of 5PM, and I had an appointment from 10:00-11:30am. (I had strategically scheduled it during Bertrand's morning nap to make it easy for Matthew.) So, we had Sally, the very sweet nursing student from next door, come stay with B basically while he napped. First big boy food, now a big boy sitter! He'll be driving a car before we know it. :)

Bertrand "Lightning" Might moves so fast he surprises his Nana!
(Cute photo from an old doctor's visit. )

Big Boy Food!

"Mmm... That tastes interesting."

Today, Bertrand munched happily on a graham cracker that I held for him, and ate 'tender chicken and stars' for dinner without too much drama. :) Our boy is growing up!

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.

CT Scan "Drama"

Bertrand didn't want to be released out the airlock. :)

Bertrand had his CT scan today. We got the the hospital at 12:30pm and left at 5:00pm. This for a procedure which should have only taken an hour.

The problem really came with trying to draw blood and inserting the IV. We got in at 1pm, but then between getting lab technicians in and confirming testing orders, this pushed us until 2:20pm. Then Bertrand's veins pushed us until 2:45pm, which meant we were going to miss our deadline to pack and ship the blood work.

I called halt on the blood work after they'd pricked him 3 times with no success. We have to go back tomorrow so they can take it from an artery instead. Emotionally, this was exhausting for me, but Bertrand seemed just fine after the ordeal.

The sedative they used didn't knock him out, but made him a bit trippy, happy and more coordinated than usual! Matthew and I laughed when the nurse noted his movements and said, "Bertrand may be a bit more wobbly than usual." Ha! He was LESS wobbly than usual! He was talkative and grabbing things first try. I think the nurse thought we were crazy. She also said he could be cranky for the rest of the day, but he was an angel. Go figure. Our son doing the exact opposite of the norm. Who'd've thunk? :-P

Tomorrow we'll be at the lab by 8 am. We'll let you know how it goes.

Overcoming Movement Disorder

Before I continue with the "Operation Diagnose Bertrand" from my last post, I'd like to discuss the blog's title change. We changed the name from "The Chronicles of Bertrand" to "Overcoming Movement Disorder" for several reasons--the first of which is that I am inherently optimistic that we WILL find a way to successfully overcome Bertrand's movement disorder.

The other significant reason for the title change relates to reaching out to and helping other parents to children with movement disorders. As I continue pouring what I've learned from Bertrand's case into this blog, hopefully it will become resource and relief for other worried parents. It was, and continues to be, difficult feeling so alone... so un-googleable.

It has become my personal mission in life to make search terms like "jiggly baby" result in at least some medically helpful information in addition to all the annoying youtube videos. When you don't know the medical terms Chorea or Ataxia (in my opinion, fancy words for varying degrees of jiggly) how else are you supposed to find information about your child? And, what to ask your doctor?

UPDATE: I called the laboratory when it first opened today. It is now arranged for Bertrand to get his blood drawn tomorrow during the process of sedation--while they are inserting the IV. We try to minimize the number of times he gets pricked since it is not his favorite thing.

"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...

CT scan and blood work information

Bertrand's triple phase computed tomography (CT) scan with focus on liver will be next week on Tuesday, January 13th at 1 PM. Preliminary instructions include switching to clear liquid, such as Unflavored Pedialyte Oral Electrolyte Maintenance Solution, only 4 hours before the scan (9 - 11 AM) and nothing from 2 hours onward (11 AM - 1 PM). With sedation (30 - 45 min.), scan (30 min.) and recovery (30 - 45 min.), the whole thing should take approximately 2 hours.

I am waiting to confirm the appointment with Dr. Linda Book, liver specialist, immediately following the CT Scan. If possible, she may just call with the results and next steps.

Unfortunately for poor Bertrand, as mentioned in the prior blog post, he'll be getting his blood work drawn for the Ataxia Telangiectasia test, along with his regular blood work and the test for Sydenham's Chorea on Monday, January 12th at ~9 AM. He is part baby, part pincushion.

Bertrand's regular blood work order.

Two steps forward and only one step back!

Today, I spoke with Dr. Lisa Samson-Fang, Bertrand's pediatrician. She had spoken with Drs. Linda Book (Gastroenterology) and Ai Sakonju (Neurology) concerning the next steps in Bertrand's diagnosis.

Even after a second consult with Dr. Thomas Crawford, we are going forward with the genetic test for Ataxia Telangiectasia early next week, along with his regular blood work and the test for Sydenham's Chorea. (I'll be confirming everything for the AT test with the Johns Hopkins' DNA Diagnostic Laboratory tomorrow.) The results will be back in 4-6 weeks for the AT Test and 1-2 weeks for the Sydenham's.

While we wait for the results, Bertrand will undergo a triple phase CT scan of the abdomen with focus on the liver. (For that, we're securing a sedation slot due to the probable need for anesthesia.) He'll be seeing Dr. Book again after the scan to go over the results and discuss next steps, including liver biopsy.

Tomorrow, I'll type up what we discussed at his Neurologist's office on Tuesday and report on last Monday's physical therapy session.