January 31, 2011

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. ;)

January 28, 2011

Keeping Life "Interesting"

Pink eye or scratched eye?

Warning: This post contains Too Much Information (TMI).

Bertrand woke up late from his nap and had lunch. During lunch I noticed that one of his eyes was pink! He'd also scratched his nose, so I was inclined to believe the eye had also been scratched. However, being Friday, if it was pink eye, I'd have an easier time getting a prescription called in today than tomorrow. I changed his very messy diaper, making a mental note to cut-out Bertrand's miralax, and called his pediatrician's office.

As I was hanging up the phone with the nurse, I heard Bertrand retching. I turned around to find him covered in vomit! Poor baby! As I was cleaning him up to get him in the bath, he went through several more cycles of diarrhea and another of vomit. I managed to get him cleaned-up along with his room's carpet, bean bag, and myself. At this point he'd lost a lot of fluid and didn't want to take anything--food or drink. He'd vomitted everything since 10am--it was almost 4pm.

Matthew and Sabrina are out-of-town, and Bertrand's nana is with with his great-grandma in the ER. We like to limit family members in the ER to one at a time. Bertrand is at risk for ketoacidosis and hypoglycemia because of the ketogenic diet and dehydration thanks to the fluid loss. As we've seen, he can go downhill fast. And, once he is in the hospital, Bertrand likes to find reasons to stay there. It was vital to get fluids in him.

So, I called in the "big guns": our neighbor, Nurse Cathy. She is an angel. She left work early to watch Bertrand, and confirm his pink eye. I was able to pick up his prescription & sick baby supplies (pedialyte, pediasure, boogie wipes, etc.) in record time. Once the sweet ambrosia that is Pediasure--well, a KetoCal/Pediasure/water solution--touched Bertrand's lips, he FINALLY drank. And, it stayed down. His color started to come back. An hour later he was ready to drink more, and he was able to take his medications.

I can't help but feel like I dodged a bullet. I even went so far as to continue with Bertrand's zonegran wean (stepping him down to the last 25mg) and there still haven't been additional seizures. He is making at MOST trace ketones. This isn't how I wanted to wean the diet again--under threat of hospitalization--but now I am not sure I want to raise the ratio if he is doing fine. We'll hold steady the next few days and see what happens.

January 27, 2011

Last Day at Pingree

Bertrand fell asleep so he wouldn't have to say goodbye to his wonderful teacher and aides.

Today was Bertrand's last day at the Carmen B. Pingree Center for Children with Autism. We are going to miss Pingree so much! The staff, facilities, and kids there are fantastic. In the future, we'll be stopping by for old times' sake, conferences and different events.

Mama let Bertrand eat a few bites of his "farewell" cupcake at the class party.

We found the perfect thank you card for Bertrand's teachers there:
"Some people only know one way of giving - with both hands, with all their hearts, without a second thought. Thank you for being those people."
These were the first people I felt safe sending my most precious baby to.
Any child in their care is fortunate to be with them.

Bertrand's classmates made him a thoughtful farewell card.

We'll miss you too, Room 1137!
Thank you for everything!

January 26, 2011

Pregnancy After a Special Needs Child

Bertrand practices being GENTLE with his baby doll. Not shown? Bertrand trying to give the doll shaken baby syndrome. Guess who won't be left alone babysitting? ;)

Bertrand is expecting a little sister in early April 2011, and several people have asked about this pregnancy. I'd like to be a coward and say it was unplanned, but the truth is otherwise. A lot of research, discussion and consideration was put into the decision to have another child. Some of our journey and thought process is detailed below.

The Nightmare - 2008, 2009
Coming from large, happy families (one of 4 sisters and the other of 3 brothers), siblings for Bertrand were a given when Matthew and I were unaware of his medical issues. Once those issues arose, however, contraceptive measures were taken to give us time to determine the basis of Bertrand's condition.

One doesn't have to google long to find stories of families burying 2 or 3 children from genetic conditions. The suffering Bertrand had already experienced by 6 months-old was heartbreaking, and to imagine it compounded by another child suffering the same condition was impossible for us.

Besides, once Bertrand's condition was found to be severely life-threatening, our sole focus became providing the best of care, attention and quality of life. Fulfilling this alone, never mind managing the search for The Answer regarding his condition, was exhausting. How could we care for another child?

The Awakening - 2010
I'm not quite sure how or when it happened, but at some point our family found it's "new normal". The therapy and doctors' appointments, blood draws and medical research--it all became second nature. Bertrand was set on a roller-coaster ride of treatments ranging from the ketogenic diet to ACTH injections to stem cell infusions, because our goal shifted away from finding The Answer to simply improving Bertrand's quality of life. This meant we could finally make progress--measurable in adorable smiles.

We also met families in similar situations. The advice from these other parents was invaluable, and catching glimpses of their family lives made us finally rethink our own. The families with siblings, both older and younger than the special needs child, were HAPPY. The siblings contributed in countless ways to the care and joy of the special needs child and their parents. Any neglect siblings experienced was really in their parents' heads. The siblings were well-adjusted, cheerful, compassionate, beautiful human beings.

The last factor was community. From the beginning, Matthew's colleagues and the University have been incredibly supportive of our family. We've grown an amazing group of friends who accept our son for the lovely being he is and Matthew and I for the crazy people we are. Bertrand began his academic career--at the Pingree Center for Autism and now at Ensign Elementary's Special Ed Preschool--thereby giving his Mama a break. And finally, Bertrand's aunt Sabrina moved-in, while his Nana and Papa bought a second home close by.

If it takes a village to raise a child, we had managed to amass a nationstate.

The Dream vs. Reality - 2011
We'd heard many times that "there is never a right time to have a child", but I think we managed to get as close to a "right time" as one can expect to get. Currently, Bertrand's condition is remarkably stable. We may be getting The Answer afterall--in the form of our family's full genome sequencing being done at Duke University. Even though there is no evidence of an inherited disorder, we lucked out with this baby being a female (XX). This means that if Bertrand's condition is an X-linked inherited one (X-linked conditions have always been at the top of the suspect list), the baby wouldn't be affected even if she is a carrier.

Medical justifications aside, I was terrified of announcing my pregnancy until almost 20 weeks along. Did I expect to be crucified? I don't know, but the reactions have been overwhelmingly beautiful. Everyone, from our close family and friends to Bertrand's doctors, teachers and therapists, has been excited and borderline giddy! There is even a wonderful baby shower being planned by all my wonderful if insane ;) friends and family. It's clear that little Victoria Elizabeth will be welcomed into many loving arms, just like her brother Bertrand has.

That doesn't mean this pregnancy has been easy! Naively, I expected this pregnancy to be as uneventful as my nine months with Bertrand, but the old saying is true: "every pregnancy is different". From horrific morning sickness to chronic anemia, it's been a rough 30 weeks and coupled with being the primary caregiver to a 40lb. non-ambulatory child. But there are only 10 more weeks to go, so we're in the relative clear.

Interestingly enough, thoughts of prolonged NICU stays, infusions, blood draws, developmental delays, etc., none of that bothers me with this one. I know that Matthew and I can handle that easily! What occassionally bothers me is "what if she's normal?!" Thoughts of babies crawling away through mazes, picking up poisons to drink, sticking swords in electrical sockets (yes, because normal babies apparently wield swords)... We've never had to child proof our house or our life. By October we could be seeing milestones we've never seen or know how to deal with!

But, as I said, those worries only enter my head occassionally. I've gotten better at shrugging them off with "Eh, it can't be that hard. If I can take my child to the NIH, I can put little plastic covers on electrical sockets." If it is harder than that, please DON'T tell me. Okay? Thanks. :)

January 25, 2011

2011 UAAACT Conference

The 2011 UAAACT Conference, Cultivating Success with Assistive Technology, will be held at the Ogden Eccles Conference Center (2415 Washington Boulevard, Ogden UT 84401-2315) on February 9-10, 2011.

There is no fee for Utah residents to attend the conference, but registration is limited to the first 350 individuals who email, mail or fax in their registration forms.

General Conference Information

Keynote Speakers Gail Van Tatenhove an SLP from Florida with more than 30 years experience, and Dave Edyburn from the University of Wisconson Milwaukee.

There will be vendors and other experts on assistive technology, augmentative communication, and computer access sharing their knowledge in over 30 breakout sessions. Stay tuned for additional information on this exciting event. If you have any pressing questions please use this link to email Craig Boogaard or call him at 801-887-9533.

Conference Registration
We are now accepting Conference Registration. If you would like to attend the conference please register by January 18, 2011 to assure confirmation of your registration.

Conference Registration Form (PDF)
Conference Registration Form

Conference Hotel Information If you will be staying at the Hampton Inn and Suites, please call 801-394-9400 to reserve a room at the special conference rate, $70 single, $75 double occupancy. You must reserve your hotel room by Monday, January 10, 2011 to get the conference rate. Please consider registering for the conference before you register for the hotel.

January 24, 2011

Cleveland Clinic MRI Report

EDIT: The "lay interpretation" is that this is about as good a report as we could expect. Findings are mostly, and confoundingly, normal. :)

* * *Final Report* * *

DATE OF EXAM: Jan 6 2011 1:32PM


PROCEEDURE REASON: Epilepsy and recurrent seizures

Intractable epilepsy and neurodevelopmental delay

There is bilaterally symmetrical, nonspecific T2/FLAIR hyperintense areas noted in the periventricular deep white matter adjacent to the atrium of bilateral lateral ventricles, extending to the occipital lobes. Compared to multiple prior outside MR studies, there has been interval increase in size of these abnormal periventricular lesions. Small T2 hyperintense white matter foci are also seen within the left front centrum semi ovale (series 5, image 7), nonspecific in nature. No other parenchymal mass, mass effect or extra-axial fluid collections are identified. Diffusion weighted images demonstrate no evidence of restricted diffusion.

The ventricular system is normal in size, shape and configuration. The cortical sulci are unremarkable. No abnormal intra- or extra-axial fluid collections are identified. The midline structures are unremarkable. The cerebellar tonsils are above the foramen magnum. The myelination is appropriate for age.

The major intracranial vessels are patent. The visualized portions of the orbits, paranasal sinuses, and mastoid air cells are unremarkable.

MR Spectroscopy: Multi voxel MR spectroscopy images demonstrate normal pattern. No evidence of abnormal neuronal activity or increased lactate formation is identified.

IMPRESSION: Bilaterally symmetrical, periatrial T2/FLAIR hyperintense deep white matter signal abnormality. There has been mild interval progression of this abnormality compared with multiple prior outside MR_s. No specific associated MR spectroscopic changes. The MR features are nonspecific and the differentials include metabolic, mitochondrial and dysmyelinating disorders. A contrast enhancement MRI may be performed if there is clinical concern for adrenoleukodystrophy.

January 23, 2011

Weekend at Grandma & Grandpa's House

Bertrand spent the weekend like a big boy with his Nana & Papa in Park City, Utah! They decided to skip Sundance in favor of some "dancing in the sun" while Mama attempted to recover from her cold and Daddy took a trip to Austin, TX for POPL. The following pictures are from their sunny, outdoor escapades. Don't you just love Bertrand's "modified" sled? ;) He sure does!

January 20, 2011

Alternative Augmentative Communication (AAC) iPad Applications

The following are some iPad apps recommended by the Utah Center for Assistive Technology (UCAT). Bertrand will be able to test these applications through his speech therapist in the Salt Lake School District to determine the correct fit for him before purchase.

AAC Software
Proloquo2Go - $189.99
iConverse - $9.99
iCommunicate - $29.99
iPrompts - $49.99
Look2Learn - $24.99
TapSpeak Button - $0.99
TapSpeak Button for iPad - $9.99
Speakit - $1.99
DAF Assistant Legacy - $9.99

Study Skills
FlashCards Deluxe - $3.99
myHomework - free

Paper Desk LT - free
Dragon Dictation - free
Evernote - free

January 19, 2011

The Path to Assistive Technology

The Judy Ann Buffmire Rehabilitation Service Center

Bertrand's speech therapist through the Pingree Center for Autism set up a meeting at the Utah Center for Assistive Technology (UCAT) with a technology specialist there, his wonderful teacher from Pingree and his new speech therapist from his new special ed preschool. This meeting helped us lay the ground work for his assistive technology evaluation with the regional Utah Augmentative Alternative Assistive Communication and Technology (UAAACT) Team. UAAACT is a project of the Utah State Office of Education and the Utah State Office of Rehabilitation / Utah Center for Assistive Technology dedicated to improving the communication skills of students with disabilities across the state of Utah.

Matthew and I went into the meeting looking to get ideas on how to make the most out of Bertrand's iPad. We expected to get the names of appropriate apps and test drive them--which we did. But, some of the most useful information from the meeting came in the form of brain storming ways to gauge the effects of Bertrand's motor issues/movement disorder versus the effects of his cognitive abilities. And, how to capitalize on some of Bertrand's motor strengths such as spinning objects with his hands and his ability to stare pointedly at items. Bottomline, before even delving into the iPad, there are a lot of old school analog techniques which are very concrete that may set Bertrand up for immediate success.

For example, using actual objects to choose from, as opposed to using drawings or even photos of the objects in an iPad app, would be a great way to start systemetizing his communication. We do this already when having him choose between books or toys but, as one of the speech therapists pointed out, an even better test is the choice between a bottle/food and something uninteresting, like a gardening glove. This way we know the choice is actually his and not ours.

So both Daddy and Mama came away with homework from this meeting. (Daddy can have fun writing up his plans in an independent post when he isn't so swamped with work.) I am going to start off with buying a bunch of plain-colored, plastic placemats and putting a line of electrical tape down the center of each. Bertrand's will have one of these new "choosing mats" for his wheelchair, highchair, both schools, and one on every floor of our house. We'll start using the mats to present tests, choices, dichotomies... first using objects and then maybe photos, and get to know what Bertrand thinks. Give him a voice--some power. That alone could make for a much happier young man!

January 18, 2011

Bonding over dance, special needs and legal issues

Bertrand had preschool, occupational therapy and dance class today. What a busy boy! The biggest surprise was that he stayed concious for all 3 big, interactive activities! The zonegran wean is definitely working and worth it--even if we did see the return of a few small myoclonic seizures as a result.

While at Bertrand's dance class, one of the moms invited all the other parents out to talk in the lobby. Turns out that on top of being a special needs parent, Lisa is a lawyer. She gave out stacks of information on social security, trusts, guardianships, estate planning and other legal hurdles. She did a good job explaining lots of things, such as why you don't want your special needs child to have his/her own bank account (more than $2000 of assets disqualifies them for social security at age 18), and passed out resources--including fill-in-the-blank Last Will & Testament forms--for the DIYers in the crowd. It was really helpful! So, a new goal of mine for 2011 is to have an "estate planning night" for our family, thereby laying the groundwork for Bertrand and Victoria's (due April 2011) futures. Or, at the very least, soothing the rampant anxiety of a pregnant woman. :)

What will we be covering at next week's dance class? iPads, of course! I didn't expect Bertrand's dance class to be as fun for the parents as for the kids!

January 17, 2011

Bertrand's New Wheels!

Bertrand and Daddy stylin' outside Shriners Hospital.

Bertrand was fitted for and received his sparkling, new, cherry-red wheelchair today! You may not be able to tell from the pictures below but he loves it. He is clearly very comfortable and supported. This chair will replace a lot of time he currently spends in his car seat and stroller--neither of which are ergonomically suited for long periods of sitting--and should go a long way to preventing (and possibly undoing?) the curve in his spine.

The arrival of the Elmo Chariot (maybe we should hold a naming contest?) doesn't mean Bertrand will be in a wheelchair all day! But while he is sitting in it, this wheelchair encourages him to use his neck, back, abdominal and leg muscles to sit correctly. He'll still work on standing and sitting independently both at home AND at school.

I keep repeating this last point to myself. We are NOT giving up on Bertrand standing, sitting, crawling or even walking! Of course, Bertrand obviously needs the chair. In fact, he probably needed it much sooner, but his yo-yo prognoses and development kept us guessing.

I'll admit that the arrival of this wheelchair has been a bit bittersweet. In many ways the wheelchair is a neon sign--to the public and to me. Today, I am telling myself, it is a neon sign saying my son is big, strapping THREE year-old scholar whose life is an open book. Only HE will decide what his future holds. And, his parents will love and support him no matter what.

Bertrand was unsure at first about the clear tray. (He got used to it quickly.)

Bertrand was not a fan of having the chair tilted back or of the shoulder harness.

The bare bones of the wheelchair. At first glance could pass as a stroller?

January 13, 2011

Movin' On Up!

Bertrand's time "actively engaged" has been steadily increasing!

Bertrand's goal review was today at the Carmen B. Pingree Center for Children with Autism.
On February 2, 2010, a care plan meeting was scheduled with Bertrand's parents. At that meeting, they identified the following goals for their son: "According to the parents, Bertrand will develop more communication. He will tolerate changes in the environment. He will improve his social awareness, including eye contact." The parents and team members reviewed this goal in August 2010 and determined it was still appropriate for Bertrand. While Bertrand has faced many medically related difficulties in reaching his goal, he still has shown progress. He is able to remain regulated in the classroom for longer periods of time. He is showing improvement in his ability to use eye gaze to communicate with others. He shows more enjoyment in the classroom through increased eye contact, laughter and smiling. His parents note that he is doing many of the same things both at home and in other environments. This progress cannot always be captured through developmental assessments. However, developmental assessments have been completed with Bertrand using the Early Learning Accomplishment Profile (ELAP). The results from his assessment are provided below:

ELAP (3/15/10)ELAP (new)
Gross Motor5 months6 months
Fine Motor1 month3 months
Cognitionless than 1 month3 months
Language1 month5 months
Self-Helpunscorable6 months
Personal/Social3 months6 months

This is only the first section of the goal review, but you get the idea. Bertrand has recovered a lot of from his developmental regression in 2009 and early 2010. He is creeping back into the 6 month range developmentally and is happier overall--which is the most important thing. :)

January 11, 2011

Bertrand's Bones

Comparison of Bertrand's January 2011 and July 2010 hip x-rays.

Bertrand had his orthopaedic follow-up at Shriners Hospital today. The main point of concern is his right hip. It is subluxated 50%. Fortunately, it hasn't gotten worse since his last appointment even with the break of his right femur in October. "Stable" is the word of the month!

The issue of bone density always comes up at these visits. Every orthopaedic surgeon we've spoken to has said that a dexascan under the age of 5 but especially under the age of 3 is misleading. Fortunately, there is *one* pediatrician in town whose research specializes in bone density issues and treatments who can read such early dexascans--Bertrand's very own pediatrician! As a result, we'll be following-up with Bertrand's pediatrician through Shriners (rather than Primary Children's Medical Center) in February.

The best things for Bertrand's hip and bone density include reducing factors which negatively affect bone density and performing weight bearing exercise. This dovetails nicely into our treatment plan from Cleveland Clinic which eliminates zonegran, the ketogenic diet, & prevacid (all decrease bone density). And, there will be a renewed emphasis on weight bearing in our household in the form of scheduled Tuesday, Thursday, Saturday and Sunday stander time.

If these things don't help Bertrand's hip then surgery may be in his future. However, before that point, it appears that botox would be an option. Botox would be injected into his groin muscle in hopes of relaxing it sufficiently that the femur ball could settle back into the hip socket. The results of this are temporary. We'll be seeing Bertrand's rehabilitation doctor through Shriners in March to discuss both surgery and botox options.

Lastly, Bertrand's spinal curve, possible vest brace and wheelchair were discussed, along with disability certification. Oh, and of course today was the day the Shriners' public relations folks were taking professional photographs of patients for their literature, website, etc. So, now they have pictures of Bertrand and me (hair uncombed, covered in dog hair, dark circles under eyes, etc.) which should evoke plenty of pity and donations for the hospital. :)

January 10, 2011

Cleveland Clinic Wrap-Up

Bertrand coming out of general anesthesia, post-MRI.

Bertrand was transferred from the Pediatric Intensive Care Unit Thursday afternoon and discharged from the Pediatric Epilepsy Monitoring Unit late that night. He is fully recovered from his urinary tract infection and almost fully recovered from his hectic 4-day hospital stay. (A restful sleep in a comfortable bed can do wonders!)

As expected, we came away with no answers, diagnosis or prognosis, BUT a treatment plan has been put into place! While in some ways we learned little from our time at Cleveland Clinic, in many ways we learned a LOT--starting with the importance of proper EEGs, serum medication level monitoring, medical team communication and attention to detail.

Bertrand was asked to return for follow-up in 6-12 months. We'll aim for sometime between August and October at the latest. (Can you tell we've been scarred by all the winter flight delays, cancellations, and reroutings?! Matthew, who was supposed to arrive early yesterday evening, is currently stuck in Phoenix!)

Bertrand was seen by experts in epilepsy, neurogenetic/metabolic conditions and movement disorders. He had an MRI, an MR Spectroscopy, over 3 days of EEG monitoring, and blood work.

The preliminary reading of Bertrand's MRI stated that it was unchanged from his December 2009 MRI. The myelination of his brain white matter has neither improved nor worsened.

According to the EEG, Bertrand's main seizure type is myoclonus. He has them in clusters awake and many in his sleep. Many of his atonic episodes were actually large myoclonus. His random laughter is not a gelastic seizure, but rather a reaction post-seizure because it feels good somehow.

Most of Bertrand's abnormal movements are in fact a movement disorder. They are called stereotypies: repetitive or ritualistic movement, posture, or utterance, found in people with mental retardation, autism spectrum disorders, tardive dyskinesia and stereotypic movement disorder.

A few drugs could help a little with the movements, but they wouldn't eliminate the movements entirely. The same drugs also greatly reduce seizure threshold, which is why they should be approached with caution.

Since seizures prove the greater hurdle for development and learning, over the next few months, Bertrand's current drug & diet regimen will be optimized for maximum seizure control and minimum side-effects. This means frequent blood draws to check serum medication and liver function levels.

Speaking of liver function, Bertrand's AST was 83 and ALT was 98. These values are still elevated slightly but FAR lower than the 600s at which they once were! We're not sure if this is simply part of their downward trend (like his AFP), the result of his ursodiol/actigall regimen, or the result of his stem cell infusion last August.

This makes the ideal medication for Bertrand's seizures a combination of lamictal and depakote (valproic acid), or perhaps even just lamictal or depakote. Bertrand was just raised to 100mg daily of lamictal and will need his serum levels drawn for that. We need to keep tracking his seizures.

In the meantime, we will proceed with a zonegran wean, then a keppra wean and then a ketogenic diet wean (or vice versa). All three treatments caused severe sleepiness, reflux, constipation issues, elevated heart rate, bone density loss, and possible kidney stones. He may be able to drop his prevacid (for reflux but causes bone density loss) and miralax along with these.

(I can't even begin to imagine what it would be like! 2 medications instead of 6 plus countless supplements?! Bertrand being able to eat a cupcake at his own birthday?! Without seizing?! It sounds like a pipe dream, but hey, we'll give it a whirl!)

From a testing standpoint, the neurogeneticist seemed pretty impressed with all the testing done so far. For glycogen storage diseases, Bertrand's testing to date had been for carbohydrate deficiency transferase & oligosaccharides--markers for those diseases. While these markers had come back negative repeatedly over the past 2+ years, a new genetic panel for this family of diseases had come out--all 30 can be tested quickly and cheaply--so this was sent out to be done.

Two more X-linked diseases, CDLK5 (another form of Rett Syndrome) & ARX, were put on the table, but since these will be covered by the genome sequencing being done by Duke University (results due late this month or next), these tests were held off on.

We'll stay in touch with the team at Cleveland Clinic while we implement Bertrand's seizure treatment changes. And, when we return in a few months, they'll be able to address more of the movement disorder and neuropathy/demyelenation aspects of his condition. (He'll see FOUR neurologists at Cleveland next time!)

January 4, 2011

A Slight Detour

Matthew comforts Bertrand.

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

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

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

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

Mission Impossible? Or Mission I'm Possible?

Bertrand wasn't glad about all the measuring and attention to detail, but mom & dad sure were!

We arrived at the Cleveland Clinic on Sunday afternoon, had our first appointments on Monday, and last night was Bertrand's first night staying inpatient. (His room is M52-05 in the Pediatric Epilepsy monitoring unit.)


Before arriving at the Cleveland Clinic, we'd heard it described by friends as "medical Disneyland", so our expectations were set pretty high. The Clinic hasn't disappointed!

It is a MASSIVE, multi-block medical complex, interconnected by skyways (extensively peppered with flat screen TVs) with optional patient shuttles.

The main hospital building could double as a museum with its soaring architecture and world-class art exhibits. (I could dedicate a post to this aspect alone!)

The specialty gift shops--yes, plural--include a bookstore, spa shop, clothing boutique and typical gift shop. They are larger than your average grocery market.

Much to Matthew's delight, dining options include everything from gourmet caffeteria to McDonalds, Starbucks and Au Bon Pain to the award-winning restaurant, Table 45.

And, the four lodging establishments located on the medical campus run the gamut from Ronald McDonald House to the Intercontinental.

The prior amenities are just scratching the surface.

I'm surprised I haven't seen a waterslide--then again, I probably just haven't found it yet.

Obviously, the most attractive feature of the Cleveland Clinic--the one that has us & people from all over the world traveling here--is the world-class medical staff.


Bertrand's first appointment of the day yesterday was with Dr. Sumit Parikh, and I'll be upfront by saying I came out of that appointment with a crush on him. ;) Heck, I think Matthew, Diane (Bertrand's nana) and even Bertrand himself came out of that appointment with a crush! It is unbelieveably rare to find such a combination of expertise, attentiveness and compassion.

To him, an expert in neurometabolic, genetic and mitochondrial disorders, while Bertrand appears to have a genetic disorder, he appears neither metabolic nor mitochondrial!

Given the early onset of B's condition, his liver function improvement, and relatively stable condition, if it were a metabolic condition Bertrand would be far worse--if not dead--by now.

As far as a mitochondrial condition goes, while we could consider a conclusive muscle biopsy, Bertrand lacks several key chemical and physical indicators (lactic acid, hypotonia, etc.).


The following appointment was Bertrand's first ever with a REAL epileptologist, Dr. Deepak Lachhwani. Dr. L has experience with children seemingly similar to Bertrand!

Since he was a last minute substitution to Bertrand's medical team, he hadn't yet read Bertrand's medical file--this is a PLUS. I couldn't be happier that Bertrand's seizures will be viewed through a fresh set of eyes, untainted by potential metabolic, mitochondrial, genetic or other considerations, especially after our meeting with Dr. Parikh.

He will proceed as if intervention, pharmacological and/or surgical, is still an option. (Many of Bertrand's prior doctors discounted intervention right-off-the-bat on the assumption that nothing would work effectively in the case of an inborn error of cellular metabolism.)

After reviewing Bertrand's prior MRIs, he may order a new MRI or PET scan if indicated.


Bertrand had 3 EEGs in 2009, 6 EEGs over the course of 2010, and his first ever EEG done right in 2011. I'll admit to feeling simultaneously shocked, incredulous, awed and furious.

Bertrand isn't your typical kid with a febrile seizure or epilepsy. An EEG should do more than prove "yup, he had a seizure". (NO DUH. He has seizures.)

An EEG should provide information--usuable information--on where his seizures are originating, how/if they generalize, how they manifest... A potentially MAJOR puzzle piece.

This seems obvious, right?


At other locations, which shall remain nameless, they just slap leads on haphazardly without measurement, never check if equipment is working, there is never a nurse response, video isn't adjusted, techs aren't monitoring the child remotely, conductive gel isn't reapplied, results take weeks... I could go on and on but I get enraged thinking about it!

At noon today, an entire team of doctors will come in to speak to us personally while Bertrand is still inpatient to discuss his EEG--which they have already read!

(Anyone who knows me can probably visualize how this makes me want to tear my hair out, bash my head against a wall AND hug someone all at the same time. I'm not dramatic at all.)


I happen to LOVE making new year's resolutions. Every year I make just one resolution and I keep it. This year, my resolution was "no expectations".

I spent most of 2010 horribly disheartened by shattered hopes--disappointing ketogenic diet results, ACTH, hospitalizations, broken bones, zonegran, miscarriage, etc. 2010 was not a bad year, but having to pick myself up repeatedly after each instance was HARD.

So, by "no expectations" I meant that I would continue to do my best without emcumbering myself with a set expectation or any false hope. Unfortunately, I may have made a resolution I can't keep.

Apparently, I am hardwired for hope. Subconciously I grasp onto any shred of possibility and I make camp in crevises of ambiguity. The past 24-hours at Cleveland, I did more than make camp--I built a castle.

Doctors haven't even read Bertrand's EEG and in my dreams I was seeing Bertrand with some seizure control, taking him off of keto, weaning his zonegran AND keppra, & feeding him finger foods in his high chair. I woke up wanting to scream at my trecherous dreams!

I can say "no expectations" all I want, and spout off about the importance of quality of life all I want--my subconcious knows the truth. In the face of the impossible, I'm still trying to "fix" my baby.

I guess that makes me a mom.

January 1, 2011

"Prepare for glory!"

Some things simply require a ridiculous photoshop.

Tomorrow we fly to Ohio. Bertrand will see a team of neurologists at Cleveland Clinic whose areas of expertise range from epilepsy to neurogenetic/metabolic disorders to movement disorders. Going into this, we know that there won't be any answers or diagnoses or cures. At best we'll get a stopgap treatment for some of his seizures.

In 2007, the year Bertrand was born, the movie "300" was released. It was based on the tale of the Spartan king, Leonidas, who fought with 300 men to stall a Persian invasion of Greece. Knowing there was no chance of surrender, retreat or even victory, they fought anyway.

So do we.