Inflammatory Bowel?

Bertrand looking enthusiastic.

"You poke my belly and now you want to do WHAT to my butt?!"

At Bertrand's GI appointment today, the doctor told us to stop his medication ursodiol/actigall because his liver enzymes have normalized. (Bertrand was on 180mg 3 times a day for over a year and a half.) At the follow-up appointment in 6 months, if Bertrand's liver enzymes have risen again, he will reinstate the ursodiol. But for now, that's one less medication! Yippee!

Also, Bertrand's faecal calprotectin test came back elevated. This usually calls for a colonoscopy. But, because this test has some false positives and the colonoscopy is a sedated procedure, the doctor ordered a repeat of the test, which is just a fecal sample. The reason this test was ordered in the first place was to check for inflammatory bowel (not to be confused with irritable bowel). The bowel is where many vitamins are absorbed, and chronic inflammation interferes with vitamin absorption. Causes could be anything from Crohn's disease (not likely) to metabolic disorder (duh), so now that's on the table. Fingers crossed for a normal result!

P.S. - Bertrand's weight is much better but the doctor still wants him to lose more. :(

A (tiny) happy dance.

Bertrand working out with his "personal trainer".

Bertrand's gastroenterology appointment this morning was just the good news I've been needing to hear. Starting with Bertrand's stats, he measured:

• 39.5 inches (just above the 50th percentile for height)
• 36 pounds (just below the 75th percentile for weight)

I could've happy danced for these numbers alone! All of our hard work with his diet and exercise (standing, gait trainer, horseback riding, etc.) have paid off. We have only a few more inches taller (or pounds smaller) to go to reach normal weight-for-height!

Then, his Doctor came in and said that, looking at Bertrand's most recent liver enzyme levels drawn in May, if Bertrand had been a new patient he would've wondered why B would need to see a GI doc! His liver appears almost entirely normal!

We shared a laugh that Bertrand is probably the first person in history to have their liver enzymes DECREASE while on depakote. But, due to the depakote, the GI Doctor would like to continue vitamin D and carnitine supplementation to protect the liver.

However, he now feels that we can wean Bertrand's prevacid! (While watching for signs of reflux.) And, in 6 months, we can begin a cautious actigall wean as well! (While monitoring his liver enzymes.)

That may not seem like a lot, but 2 fewer medications (administered a total of 4 times daily) is 1 step closer to a more enjoyable childhood for my precious boy. And that's worth celebrating!

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! :)

February won't cut us slack.

Bertrand coming out of anesthesia in post-op.

He'll be going under AGAIN later this month for his endoscopy.

That's general anesthesia 3 times in little over a month, but who's counting?

After the medical triathlon we'd been running the past several months, we expected a break in February--a chance to settle into a routine with Bertrand's new preschool and therapies. No such luck. Here's a quick recap of Bertrand's week.

Ophthalmology

After being diagnosed with a corneal infection on Monday and going through Same Day Surgery for a biopsy and diagnostics, Bertrand was placed on a full spectrum antibiotic. At his follow-up appointment on Wednesday his eye was pink rather than red and the Doctor pronounced him improved but "not out of the woods". Since then, Bertrand's eye has improved both in color and the white puss patch covering his pupil has shrunken! He has a follow-up on Monday morning where, after a weekend of continued recovery, we hope he will receive the all-clear to resume school, therapies and other outings.

Neurology

We received the medical reports from Bertrand's visit to Cleveland Clinic. (I'll try to condense these in a separate blog post.) Bertrand uneventfully completed his Zonegran wean! He also unintentionally completed a wean from the Ketogenic diet without incident, but we are still holding our breaths. We plan to keep steady over the next 1-2 weeks to give his body time to find its balance after the weans, infection and whatnot. We're waiting to hear back from Bertrand's neurologist at Primary Childrens' Medical Center in regard to initiating a Keppra wean or an increase in Lamictal, but I'll probably have to ping her again within a few weeks. We also have a follow-up with her in early April.

Gastroenterology

Bertrand's gastroenterology appointment on Thursday was the first time he's been congratulated on his weight! He is down to 85 percentile! The GI doctor was also pleased with Bertrand's continued reduction in liver function values. He tentatively approved valproic acid (Depakote) treatment for seizures contingent on continued carnatine supplementation. Given Bertrand's vomiting black chunks (most likely blood clots) during his sickness last week, the doctor would like to conduct an endoscopy to check for stomach ulcers and check for pancreatitis. Both these conditions are very common in "neurologically complicated children" like Bertrand given the number and quantity of medications. New labs will be drawn for liver function, etc. during the endoscopy, and I am waiting to hear back on the scheduling of this proceedure. Assuming--fingers crossed--that the endoscopy is unremarkable, we will follow-up with GI again in June/July.

Genetics

We should be hearing the results of Bertrand's genomic sequencing at Duke in early March.

Bertrand looking a bit shellshocked but grateful to be out of surgery.

Liver Electromicroscopy Results = HOPE!

An example of a liver viewed through electromicroscopy.

Brace yourself. According to Dr. Theodore J. Pysher, Division Chief of Pediatric Pathology, electromicroscopy of Bertrand's liver cells are...

NORMAL

Yes, normal! Bertrand has fibrosis (scaring) but the cells in his liver show no sign of a mitochondrial condition, a storage disorder or inclusions such as those found in Lafora and Unverricht Lundborg Disease.

When Bertrand's new gastroenterologist (who I LOVE) gave me this news I wasn't sure whether to laugh or cry--so I did both. Then of him and Bertrand's geneticist I asked the following question: "where do we go from here?"

1. Ursodiol - Bertrand was started on this drug today to prevent further liver damage.
2. Infection - Fibrosis and subsequent elevated liver enzymes may have been caused by some sort of early infection. We will be looking for evidence and treatment.
3. Alpha-fetoprotein (AFP) - Once in the 1000's, Bertrand's AFP levels have steadily decreased to the brink of normal (34). This could support the infection hypothesis.
4. Prolonged QT - Even though this heart condition is not good, it is a good clue. Combined with epilepsy, prolonged QT implies a channelopathy.
5. Channelopathy - A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. May be either congenital (resulting from a mutation in the encoding genes) or acquired (resulting from autoimmune attack on an ion channel).
6. Valproic Acid - Also known as depakote, this drug is used successfully with a range of channelopathies. Unfortunately, it is hard on the liver.
7. Carnitine - This compound is used in the body for metabolism. By supplementing with carnitine, depakote's liver toxicity may be minimized.
8. Duke/UNC/NIH - Additional institutions following Bertrand's case and care which we will contact to see if there is additional input or interest to do enzyme analysis.

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.

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.

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.

"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.