Back to "normal".

Watching the horses at Wheeler Farm.
Victoria smiles at her brother.	Bertrand laughs at his sister.

This afternoon, Beli and I took the kids to Wheeler Farm. Both kids love animals - the louder, the smellier, the bigger, the better.  :)

Upon getting home, we got some good news about Bertrand's labs.  His CBC and CMP values have basically normalized.  His sodium is still a shade low at 133 but everything else looks great for Bertrand.  I am so relieved to see his ALT at 55 and AST at 56!  Heck, even his platelets high at 424.  This means his liver and bone marrow are functioning well.  

In other news, Bertrand's tonsillectomy evaluation was set for later this month, and I am working to get his liver biopsy sample to the folks at Sanford-Burnham. 

We go to the zoo tomorrow and titi Aury comes out this weekend!  The summer fun has begun.  :)

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! :)

Corneal Infection

The cloudy patch forming over Bertrand's pupil.

Bertrand at the ophthalmologist's office.

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

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

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

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

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.

Time heals...

Tonight Bertrand was acting like a silly goose while I was changing his diaper. He kept smiling, hooting and cooing at me. He was having such a great time, and wanted to go, go, go! He kept rolling away when I'd try to strap on the diaper! Haha! Adorable! At one point he was smiling while shaking his little naked fanny at me--taunting me for my lack of diapering speed--and I realized I couldn't see or find his skin biopsy scar.

Wow! That angry purple mark is from a year ago is almost completely gone. If there weren't skin cells of his still banked at the ARUP lab you'd never know he'd had a biopsy. Bertrand's neurologist mentioned that one of the next steps would be a muscle biopsy. My knee jerk reaction was to avoid it at all costs, but in reality it'll be nothing compared to what he has already been through. And, less than a year after the biopsy, there won't even be a scar.

Back to that crazy little baby: Bertrand was so amused by the new game/trick he was playing on his me! He kept pseudo giggling. Maybe he just loved that he'd figured out how to make me laugh. :) Miraculously, I escaped unannointed by his Highness' tinkle spray and managed to finally get that diaper on! This is the parenting I'd sign up for any day! :)

Valium & Fibroblasts

We started the day off right with an email from Rena, our genetic counselor. Rena said that the remaining lysosomal storage disease (LSD) fibroblast (skin cell) tests came back negative! This is fantastic news, as these remaining LSDs are untreatable, incurable and fatal. We'll be seeing Rena and Dr. Longo next Wednesday to discuss next steps and, certainly, the liver biopsy.

Also, Bertrand's alpha fetoprotein (AFP) level came back at 67.3! This is the lowest it has ever been! The normal range is 0-15, so it is still significantly elevated, but we'll take 67 over 971 any day. :) Now we need to figure out why his liver functions went up but AFP went down. Our visit with Dr. Book should be, theoretically, enlightening... but, since it's Bertrand, probably not.

Lastly, Bertrand has taken valium two days in a row. The pharmacist warned us that it would knock out a much larger child and to use *extreme* caution. Which goes to prove that pharmacists are not doctors, because the valium has almost no visible effect on Bertrand. About the only difference was that he was his usual ornery self at Shriner's therapy today instead of the compliant, over-stimulated lump of meat he usually turns into there. So, ha! I took perverse pleasure in watching the therapist deal with the real Bertrand for once. ;)

All in all, a good day.

Wheeler Farm & Lab Results

Bertrand and I started the day off with lab work and picking up medical records. About an hour and a half later, Dr. Samson-Fang called me with the results of B's liver function tests. The news was not exactly what I wanted to hear; B's liver functions have worsened. His ALT rose to 387 (from 318 last time) and his AST rose to 283 (from 184 last time).We're still waiting to hear the AFP results, but the bottom line is that a liver biopsy is practically inevitable.

At least we were able to follow such somber news up with a great outing to Wheeler Farm! Bertrand had a great time watching the animals and getting pecked at by ducks with his best friend Kevin. The sky was a bit overcast which worked to our advantage since Bertrand was better able to see his surroundings, the animals and other people.

Bertrand has yet to do his stander time today. Since the rain is so beautiful, I may pop him out on the front porch in his stander. Before that I'll be administering a trial dose of Valium. Before occupational therapy tomorrow, I'll be giving him a half dose of Valium as well, so I want to know if it'll work or just knock him out ahead of time.

Ruled Out: Metachromatic Leukodystrophy

Bertrand's Arylsulfatase A test, which was sent out to Seattle, came back in today. The result was normal, therefore Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) has been ruled out.

MLD is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophiea affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripherial nervous systems.

The remaining lab results, from blood drawn during his skin biopsy on 4/20/09, should be in this Monday. Bertrand's skin biopsy cultured well and is ready to be sent out from the ARUP lab to other labs for fibroblast testing.

Lumbar puncture, electromyography, etc.

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

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

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

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

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

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

Well-baby check and more test results

Things have been moving so quickly since we got back from North Carolina (and finishing taxes *shudder*) that I've been a bit lax on the updates. Here are some things you've missed.

• 4/13/09 Bertrand had his first hippotherapy session. His horse was named Captain Brownie, but B was more interested in Patches, the barn cat. :) We can't wait until the next session on May 4th! I'll post pictures and video later.
• 4/14/09 Bertrand had a skin biopsy, from which he has recovered beautifully.
• 4/15/09 Bertrand went to the Salt Lake City library to meet with his play group and participate in a baby read-along. We had fun in spite of the weather. Later that day, we all went to see Judith, our family counselor, for almost the last time. She thinks we are coping amazingly well and that we should write a book some day!

Now that we're caught up, today Bertrand had a well-baby visit with Dr. Samson-Fang. He got 4 shots. She said he looked great and his tone had improved. We were, however, still referred to pediatric rehabilitation physicians, Dr. Judith Gooch and Dr. Teresa Such-Neibar, for help with Bertrand's tone and function. Dr. Samson-Fang also referred us to a dentist, Dr. Keller, to make sure B is on track orally. Bertrand's blood pressure came back high, so we'll be watching that.

I came in with several questions regarding Bertrand's diet, medications, and supplements. He'll start taking 100mg of Coenzyme Q 10 every day. And, we should replace some bottles with water--she mentioned that they sell thickened water on amazon.com. (It could be easier for him to swallow.) Bertrand's weight is still a concern, but we'll see what happens between now and his 18 month well-baby. A lot can happen after the lumbar puncture.

Lastly, we got some lab results back:

1. ACTH 62 (normal range 5-46)
2. Copper 64 (normal range 90-190)
3. Ceruloplasmin 19 (normal range 14-44)

Here is what Dr. Longo said about them:

ACTH is a bit high. We do not have a simultaneous cortisol (ACTH is superior in these conditions as a screening test): would repeat next week cortisol and ACTH: if still high, would give hydrocosrtisone replacement. Patients with peroxisomal disorders have ACTH levels in the hundreds. Bertrand also had normal VLCFA that excludes classic peroxisomal disorders. Would get RBC plasmalogens if ACTH is still high.

Not sure about Allgrove: high ACTH is seen in Allgrove. However, several of the other findings are usually absent in Allgrove.

So, I would repeat cortisol/ACTH next week when he comes in for the spinal tap. I will discuss with Dr. Sakonju to determine the studies to obtain on the CSF.

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. :)

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 Step: Liver Biopsy

Speaking with Dr. Book's office, they'll be scheduling a liver biopsy sometime within the next two weeks. They want to do this ASAP. They will let me know on Monday. Bertrand is also being shoe-horned into Dr. Book's schedule immediately after the biopsy. To the best of my knowledge, Dr. Longo is still being consulted, if not yet directly involved.