ARTILEPSY: Visualizing Hope

The Epilepsy Association of Utah and the University of Utah Clinical Neurosciences Center present ARTILEPSY, an exhibition of original artwork, photography and home crafts by people of all ages living with Epilepsy. This evening illustrates the profound effect that epilepsy can have on human life and the courage, humor and imagination many show in facing it.

Entries due FRIDAY October 26th!

Exhibit Open November 2 - 30th.

Preschool Twilight Zone

Victoria loves Titi Karen and R!  R is one of her best friends.

Today we went to visit a preschool for Victoria.  Oddly enough, this is the preschool I'd looked at for Bertrand aaages ago when we first moved to Utah.

The school is still fantastic.  (Victoria is now on the waiting list.)  But, the experience was surreal.

Victoria didn't hesitate to start playing with the teacher and other kids.  Despite some uncharacteristic shyness, she loved it.

Bertrand could barely sit on his own the first time he was there.  Even now he can barely sit on his own.

It was weird to feel time fast forwarding for one child, but frozen for the other.

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Later at lunch with friends, Victoria had the time of her life playing with her best friend, R.

R is a little boy Bertrand's age, and I am constantly amazed by how sweet, kind and nurturing he is with Victoria.

It's a little bittersweet at times, since I wish Bertrand could play with her like that.  I can see how much his attention means to Victoria.

I am grateful that we have good friends like R to fill Victoria's desire for friendship AND to take the intense little sister heat off Bertrand.  :)

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We're recovering from our colds.

Next week once Bertrand is stabilized, we will adjust his medication as per discussion with his (new) neurologist.  We'll be tweaking his lamictal and depakote dosage and timing.  Our aim is to increase seizure control while minimizing cognitive impact.

Nothing ventured, nothing gained.

4th time's a charm?

Today, Bertrand officially switched neurologists for the fourth time at the University of Utah.  Ironically, this doctor is the one we were originally recommended back in 2008/2009, but he wasn't taking on new patients (despite strenuously pleading Bertrand's case to his administrative assistant).  Actually, I think he still doesn't take new patients, except in special cases.  I guess I Bertrand finally qualifies as difficult special.  ;)

After refusing to feed himself, with the help of his therapist, Bertrand enjoys feeding his sister.  Go figure.

Parent Education Night: Alternative Medical Treatments for Seizures

Pediatric Neurology Parent Education Night: 
Alternative Medical Treatments for Seizures

Thursday, October 11th at 6:00 pm

Primary Children's Medical Center Auditorium - 3rd Floor

Parents are invited to participate in a question-and-answer format presentation about seizures. Topics may include diagnosis, disorders, prevalence, medication and others. This is a chance to ask any questions you may have and to meet other parents who have children with seizures.

Discussion Lead by a Panel of Experts:

• Matthew Sweney, MD
• Francis Filloux, MD
• Paula Peterson, RN, MS, PNP
• Eliza Hamilton, RD, CD
• Kim Orton, RN
• Parent Advocate Marin Bywater, LCSW

Sponsered by the University of Utah Pediatric Neurology Division and Medical Home Demonstration Project as part of a quarterly education night series.

Valium Protocol - Failure to Launch?

Bertrand battles a possible UTI as well as seizures.

As mentioned way back when, Bertrand was to undergo the Valium (aka Riviello) Protocol.

Maddeningly, the neurology team at our hospital fumbled his admission for months.

So, the head of pediatric neurology decided to oversee Bertrand's initiation himself.

This afternoon, Bertrand was finally admitted for the procedure.

And promptly developed a fever and possible infection.

He is currently being evaluated for strep and UTI.

Depending on Bertrand's condition tomorrow, the protocol could be halted before it even began.

Seeing Bertrand sick is sad, but the thought of months more seizures is heartbreaking.  :'(

Here's hoping our little buddy gets well soon.

The State of Bertrand's Care

Today, Matthew and I met with Bertrand's wonderful pediatrician to discuss the state of his care. She was 100% on the same page as us, and is now organizing a meeting with all of Bertrand's providers through the palliative care team.

While the neurology department issues were discussed at length (and are to be continued...) we discussed all aspects of Bertrand's care including: an impending trip to Duke University for study results, functional electrical stimulation (FES), and potty training.

Upon examination, his pediatrician remarked on Bertrand's improved attention span and muscle tone. She also ordered labs to be drawn when Bertrand goes in for his dental and eye exams this month July.

We were all very pleased with the outcome of this visit, with the exception of Victoria* who received her 12 month vaccinations. :)

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*As usual, Victoria stole the show by wearing fairy wings, running through the hospital, smiling and waving at everyone. She remains 50th percentile for head circumference, only 10th percentile for height, 15th percentile for weight, and well ahead of her peers developmentally in every aspect. Whew! I doubt we'll ever stop worrying, but at least she tries to make it on us. :)

Cool, calm, and collected

Bertrand had a follow-up appointment for his CCTV EEG on March 9th. It has taken me a week to wrap my head around what transpired. The epileptologist, who I'd had such high hopes for, basically hadn't looked at the EEG, despite having 2 weeks to review it.

From what she glanced at before we walked in, Bertrand's EEG during sleep is significantly abnormal. He still has some myoclonus while awake too. She couldn't locate the episode (one our so-called looping seizures) that the nurses and doctor-on-call medicated him for. She was upset with the staff for giving Bertrand rescue medication because it prevented repeat seizures that night.

She actually asked me to act out the seizures, even though she'd been shown video of them at our first appointment with her, and then said, "I'll take your word on it." (WHAT?!) She proceeded to prescribe a high dose valium regimen--without her prescription pad, because she had lost it.

It's hard to put into words how deeply unimpressed I am with her professionalism, much less her competence.

We need an intervention.

Bertrand's medical team is not on the same page with us or even each other. Scheduling a meeting with his pediatrician to discuss our issues will be the first step.

Quality of life is our primary objective for Bertrand. I don't want to drug him for the sake of drugging him. There is a delicate balance necessary for seizure control. Too many seizures = no development. Too many drugs = no development. I got the impression that Bertrand was prescribed a treatment to get rid of me.

I want a doctor (to clarify: neurologist) who understands my son's case, his seizure types, his metabolic considerations, and his potential. I want a doctor who doesn't see my son as a waste of time. Better yet, I want a doctor who believes that my son has hope for a better life.

One that returns phone calls or emails would be nice too.

Goodbye, Microcephaly?

Yes, that is Bertrand taking his bottle, one-handed like a boss.

I needed some good news this weekend, and it came from the best possible source: Bertrand. His head appears to have passed the 15th percentile!

A little over 2 years ago, Bertrand was diagnosed with microcephaly, which literally means small head. His head was measuring in the 2nd percentile.

Since head growth slows down as kids get older, most of Bertrand's doctors had stopped measuring his head circumference. At his past several neurology appointments, I've had to request that they take the measurement.

As a result, since this past summer, I've been tracking his head circumference. While his doctors haven't commented on the trend, I think it's a significant one. I will take any excuse to celebrate my boy! :)

EEG/CCTV

Bertrand completed his EEG/CCTV this weekend. He was discharged early thanks to a good recording of his nightly seizure.

His seizure at 11:30pm was about 30 minutes long and rescue medication (versed) was administered by the hospital staff.

Typically, he has between 1 and 3 of these seizures per night, but thanks to the versed that was the only one that night.

Fortunately, we were able to confirm that these seizures are NOT apneic! Phew!


The discharge orders (which looked like boilerplate) say to administer diastat rectally for seizures longer than 10 minutes, but he's been having these seizures nightly for 9 months! We would be giving him diastat nightly!

Before proceeding with this course, we're waiting for confirmation from his neurologists that this is how we should proceed.

We probably won't hear back for another 1-3 weeks on the results of the full EEG.

Parent Education Night: Seizure Medications

Pediatric Neurology Parent Education Night: Seizure Medications

Friday, Februay 24th at 6:00 pm

Primary Children's Medical Center Auditorium - 3rd Floor

Parents are invited to participate in a question-and-answer format presentation about seizures. Topics may include diagnosis, disorders, prevalence, medication and others. This is a chance to ask any questions you may have and to meet other parents who have children with seizures.

Discussion Lead by a Panel of Experts:

• Colin Van Orman, MD
• Jeffrey Ekstrand, MD, PhD
• Denise Nielsen, MD
• Shari Combe, PA-C
• Parent Advocate Marin Bywater, LCSW

Sponsered by the University of Utah Pediatric Neurology Division and Medical Home Demonstration Project as part of a quarterly education night series.

__________________________________

Bertrand has a 2-day video EEG scheduled that weekend.

Conveniently, he'll be inpatient at PCMC, which means we'll be in attendance!

No steps backward!

With Bertrand's medical care, I often feel that for every step forward, there is at least one (or more) steps backward. This week was a good week because there were no steps backward!

Orthopedics:

Bertrand saw the chief orthopedic doctor at Shriners hospital yesterday. We got good news:

• Bertrand's tone is a bit low but good.
• Bertrand's subluxated hip has no tightness and full range of motion, so he doesn't anticipate any kind of intervention (surgical or injection) being necessary!
• Bertrand's spine can still straighten when laying down. There is only a 30 degree curve when sitting slumped--which anyone could have if they slumped.
• Bertrand should only wear his back brace if he'd otherwise be sitting slumped for a prolonged time. Strengthening his back and abdomen muscles is the best prevention.

Ophthalmology:

Bertrand saw the young, insightful doctor again, this morning. She'd been thinking about him:

• Bertrand failed the corneal sensitivity test. THREE times.
• Bertrand continues to require a LOT of lubrication.
• Bertrand should get a pair of moisture chamber goggles for daytime use.
• Bertrand should try tranquileyes for nighttime use. (Testing this tonight!)

Neurology:

After another round of phone calls, I FINALLY got someone to schedule Bertrand's EEG. The soonest available was February 24 - 26, which avoids missing school, so I took it.

New Neurologist Starting 2012

Bertrand will start seeing a new neurologist next year. Her name is Helen Barkan and she is an M.D./Ph.D., with her Ph.D. being in electrical engineering! Being engineers ourselves, this gives us hope that she'll speak our language, and we'll have an easier time staying on the same page. At the very least, perhaps she'll share our hope that good quality of life is not a lost cause for Bertrand! Please wish us luck!

Information on Dr. Barkan:

Academic Departments	Neurology - Associate Professor (Clinical) Pediatrics - Adjunct Associate Professor
Academic Divisions	Pediatric Neurology
Board Certification	American Board of Clinical Neurophysiology American Board of Psychiatry & Neurology

Education History:

Type	School	Degree
Fellowship	Mayo Clinic, Department of Neurology Clinical Neurophysiology, EEG/ Epilepsy	Fellow
Fellowship	Wake Forest School of Medicine Workshop for practicing adult neurologist & Epilepsy Fellows	Mini-Fellowship
Chief Resident	Dartmouth -Hitchcock Medical Center Neurology	Chief Resident
Residency	Dartmouth-Hitchcock Medical Center, Department of Neurology Neurology	Resident
Fellowship	University of California Los Angeles, Cerebral Blood Flow Laboratory Transcranial Doppler Ultrsonography	Mini-Fellowship
Certification	University of California Los Angeles, Cerebral Blood Flow Laboratory Transcranial Doppler Ultrasonography	Certification
Internship	Dartmouth-Hitchcock Medical Center, Department of Medicine General Medicine	Intern
Doctoral Training	Dartmouth Medical School and Thayer School of Engineering Engineering Science	Ph.D.
Professional Medical	Dartmouth Medical School and Thayer School of Engineering Medicine	M.D.
Fellowship	Thayer School of Engineering Colligan Graduate Fellowship	Fellow
Other Training	Harvard University Special Graduate Student program 5-course self-directed graduate program in Neuroscience	Postgraduate Studies
Graduate Training	Boston University School of Engineering Electrical Engineering	M.S.
Undergraduate	Princeton University Chemistry	A.B.

Timeline

At Bertrand’s neurology appointment last week, the doctor laid out the following timeline:

• Follow-up appointment in 4-6 months
• Revisit medication in 4-6 months
• Repeat EEG in 6 months
• Repeat MRI in 2-3 years

I’ll admit to feeling some frustration upon hearing this but, as I noted in an earlier post, some times it takes doctors a bit longer to get on the right page. ;)

Fortunately, the neurologist is no longer key to understanding Bertrand’s case management. She never was. Bertrand was the key.

While some extra non-invasive tests, like an EEG & MRI, would give me peace of mind and validate the vitamin deficiency theory, these test are not necessary. I can see, with my own eyes, Bertrand’s seizures disappear, and I can see him progressing developmentally.

This is just a crazy theory, but I think that if we didn’t completely miss Bertrand’s growth spurt, his head measurement may increase since being on the vitamins B12 and A. He has microcephaly (his head measures 48 cm), but that can be caused by B12 deficiency. In young B12-deficient children, the microcephaly can correct itself in a few months with supplementation. I hope this is the case with Bertrand.

Last but not least, Bertrand’s seizure medications have already been decreased (without MD buy-in) with no additional seizures. And, in another few weeks, given continued seizure freedom, we will cautiously and slowly reduce the medication further. I would love to have a doctor’s help with this, but she wants us to wait months just to discuss the drugs!?

Despite the fact that Bertrand has been on Lamictal since November (9 months) and Depakote since February (6 months), she implied that the sudden disappearance of Bertrand’s seizures, within one week of starting the vitamin-B12 in late August, was most likely due to the lamictal and depakote! If we don’t lower the drugs ourselves, Bertrand’s neurologist will claim that the drugs are to thank for the seizure control. And, she is wrong.

She is not listening to me. If she doesn’t listen to me, then how can I listen to her?

"It's worth entertaining the hypothesis."

Best friends.

At yesterday's appointment, Bertrand's neurologist didn't shoot down my proposed thesis! Her exact words were: "It's worth entertaining the hypothesis." I'll take it. It's way better than the facepalm I was expecting. :)

She referred me to Bertrand's GI doctor for vitamin deficiency and dosing issues. He responded quickly, but his answers sounded like he really didn't understand the question: "Could a prenatal hepatic insult result in severe vitamin A & B12 deficiencies?"

I've come to the conclusion that I finally don't care if the doctors are on the identical page as me. They will eventually catch up. I know what needs to be done. I've got my 10,000+ hours worth of expertise in Bertrand.

That said, I am utterly exhausted from playing with 2 active, happy kids all day! More videos, pictures, and explanations will have to wait just a bit longer.

Have a happy labor day weekend!

My "Ph.D.": A diagnosis for Bertrand

Today, Bertrand saw a corneal specialist for his eyes. Followers of this blog know of Bertrand's protracted battle against corneal erosion and his alacrima (lack of tears) since birth.

The two ophthalmologists who saw Bertrand today, noted the scar on his right cornea but, other than that, found no evidence of corneal erosion. Bertrand did NOT have dry eyes.

Furthermore, at home, Bertrand has been crying tears. This is especially remarkable because Bertrand still had severe xerophthalmia (dry eyes) just four short days ago.

This was the second successful test of what I am calling "my thesis". If every parent claims to be the expert in their child, I am attempting to get my PhD in Bertrand Might.

MY THESIS:

Liver damage, resulting in vitamin B12 & vitamin A deficiency, induced developmental delays, neuropathy, seizures, and alacrima.

Now, please let me explain.

I believe that Bertrand was born with liver damage because the jaundice Bertrand had at birth was not severe, but he could not shake it on his own. He had so much difficulty that he was hospitalized in the NICU. Bilirubin, the cellular byproduct that causes jaundice, is usually processed by the liver.

This liver damage could be the result of an unknown genetic disorder or the result of an infection.

While I took the best of prenatal care with Bertrand (vitamins, diet, doctors appointments, etc.), I caught "colds" twice: once in the 1st trimester and once in the 3rd trimester. I was pretty miserable.

Bacterial and viral infections can cause liver damage. Obviously, the most well-known of the viral ones are called Hepatitis A, B and C, but Mononucleosis (commonly referred to as "mono") can cause liver damage as well, and there are others.

Such an infection could have damaged Bertrand's liver prenatally and possibly my own.

(This is a big assumption, but it can in part be tested by checking Bertrand for antibodies of liver damaging viruses & bacteria. Since he hasn't had such an illness in his life, the presence of such antibodies would have come from in utero.)

The liver is where vitamins A, B12 and D are stored. It holds approximately a 3 year supply of each. If this supply is damaged, one is reliant solely on diet. Bertrand's diet for the first 5 months was breast milk. I wager that my milk was low on these vitamins, and the amount of these vitamins found in formula just were not sufficient given any pre-existing liver damage.

And here is where things get a little perverse. Certain medications block the absorption of vitamins B12 and A: proton pump inhibitors and H2 receptor antagonists. These are the antacids also known as prevacid and zantac.

What was Bertrand's very first medication? You guessed it. Zantac, followed by Prevacid. (In hindsight, this is also around when his seizures started. Coincidence?)

Based on this, could Bertrand be vitamin B12 and vitamin A deficient?

What are signs of severe vitamin B12 deficiency?

• Neuropathy
• Movement disorder (chorea, twitching)
• Seizures
• Macrocytic anaemia

Obviously, Bertrand has these. Multiple nerve conduction studies, EMGs, EEGs and MRIs serve as evidence.

B12 is a primary component of the myelin sheath found on all nerves.

Do you remember the MRI which I posted a few days ago? That was a case of B12 deficiency and it closely resembled Bertrand's MRI.

B12 deficiency is almost always associated with malnutrition. It is not a first world disease. So, hematologically, it is associated with macrocytic anaemia, which can include folate, B6 and iron deficiency as well.

However, Bertrand's case is NOT one of malnutrition. Bertrand has plenty of the vitamins which don't require liver storage.

What does B12, and only B12, deficiency look like in the blood? It looks like really fat red blood cells (macrocytosis) and/or excess platelets (thrombocytosis), for unknown reasons.

Yup, at his last blood draw, Bertrand had elevated MCH and MCV (measures of macrocytosis). And early on, he had elevated platelets.

What are signs of severe vitamin A deficiency?

• Nyctalopia - night blindness
• Xerophthalmia - dry eyes
• Follicular hyperkeratosis - a kind of bumpy skin

I don't know about Bertrand's night vision, but he definitely had xerophthalmia and follicular hyperkeratosis.

I say "had" because by this point, you can probably guess that we began vitamin B12 supplementation 2 weeks ago and vitamin A supplementation 4 days ago.

With vitamin B12, he became more vocal and alert within hours. By day 3 his myoclonic seizures (jerks) stopped. By day 6, his night seizures stopped. By day 7, he was walking in his gait trainer. By day 11, we lowered his seizure medication and we have seen no seizures.

Back to today's ophthalmology appointment, that was the first test of the success of vitamin A. We could tell that his eyes (& skin) had improved some within about 24 hours, but we've proceeded cautiously with the dose. Unlike B12 which is water-soluble, Vitamin A is fat-soluble and can be toxic. We're being cautious not to overdose.

According to the medical literature, in cases of vitamin B12 deficiency, symptoms can be completely reversed--if caught early. EEGs normalize after about 5 weeks and there are MRI changes by 10 weeks.

Unfortunately, Bertrand's case, if it is one of vitamin B12 and A deficiency, was NOT caught early. We should assume that there will be permanent brain and nerve damage.

But that hasn't stopped me from shooting him up with omega-3 fatty acids for myelin sheath repair or researching intensive therapy options. As with most "scientists" (if I dare call myself such), optimism comprises my core. ;)

SO...

The way I see it, my "thesis proposal" is this Thursday, with Bertrand's neurologist. Then I get a few months to test and, in essence, watch "my dissertation" develop. And at some point, an EEG and MRI should serve as my defense!

And, better than any sheepskin diploma, I will get a healthy, happy son!

Corneal Erosion: Genetic Condition or Side-Effect?

Victoria "styling" Bertrand's hair this morning.

This is just a quick update (read: vent) on what I've been up to regarding Bertrand. Since his keppra wean, he has been having the least number of seizures since ACTH! As a result, he is also more vocal and interactive. Unfortunately, the seizures that he IS having are sleep-related and disturbing to watch. More on that later.

All summer Bertrand's corneal erosion has not improved despite eye drops or ointment every 2 hours. In case you are wondering, that is $50 worth of eye goop every week. It is also a very upsetting process for Bertrand and time-consuming for us. And yet, I am plagued by the feeling that I am losing the battle to save his eyes. If he is this bad now, in the summer, with a humidifier in his room, how bad will it get in the dry Utah winters?!

I've been feeling defeated. It's not a feeling I am comfortable with, so I got to thinking...

It was not always this way. While Bertrand didn't cry tears (alacrima), he wasn't battling constant eye infections and corneal erosion. This all started back in January, before depakote, but a month AFTER ADDING LAMICTAL. A quick google search confirmed that dry eyes are a common enough side-effect of lamictal.

After leaving 2 messages with neurology and 2 emails to her, I finally heard back from Bertrand's neurologist last night. I feel like she blew me off. Bertrand's eyes and seizures could wait until she could see him at his September 20th appointment.

NO. WAY.

My baby boy has suffered long enough. Corneal erosion is extremely painful. As per my last discussion with his ophthalmologist, Bertrand is facing surgery to sew his eyes partially shut to reduce the amount of surface area and thereby the moisture he loses by them. As it is, his corneal scar is occluding his pupil and damaging his vision.

This is unacceptable.

Yes, seizures suck, but Bertrand needs to be seen as a whole. It is possible that depakote may be enough to control his seizures. Or maybe lamictal isn't to blame and he does need the surgery. Either way, we need to test and see because Bertrand deserves this chance.

I've spent the morning fighting for my boy, calling in the "big guns". Wish me luck.

UPDATE:

This afternoon, I spoke with Bertrand's Pharmacist (the one who once opened the pharmacy on a Sunday just for us, after we forgot to pick up his medication). According to him, Lamictal can cause dry mouth and other ocular issues, but "dry eyes" as a symptom were not in his literature. He recommended some eye ointments/drops that were new to the market. He also recommended a prescription about which we should speak to Bertrand's ophthalmologist.

From my own research, I learned that Lamictal is a (modest) inhibitor of the enzyme dihydrofolate reductase, which completes the two-step activation of dietary folate into the bioactive form, tetrahydrofolate. A B-12 deficiency would increase the adverse effect potential of the Lamictal. Dry eyes can be a symptom of B-12 deficiency...

So, TONIGHT, Bertrand starts some new sublingual vitamin B supplementation (THANKS, AMY!) and new eye drops. ;) Bertrand will see his pediatrician about all of this on Thursday. His neurology appointment was moved up a little earlier to September 1st. Grr.

We're alive.

We just got back from Bertrand's Aunt Sabrina and Uncle Steve's lovely wedding in Kentucky. We will post pictures and stories from the trip soon. In the meantime, this post is to say we're alive and back on the horse--figuratively and literally. Bertrand recommenced hippotherapy at the National Ability Center in Park City this afternoon. He had a great time with his new therapist, Jane. She'll be focusing on his tactile defensiveness.

Victoria also had her 2 month well baby check-up and shots today. (She's a cranky mess.) At the appointment, her pediatrician mentioned that Bertrand needed another shot since vaccination guidelines had changed (more strains added) since he was a baby. His compromised immune system makes any additional protection, while not required, a very good idea.

His pediatrician also mentioned wanting to re-check several of Bertrand's labs: Triglycerides, ACTH, and ALP. I'll explain more in a later post, but in the interim she will be speaking with a pediatric endocrinologist on Bertrand's behalf and sending lab orders afterward. This blood should be drawn in the next few weeks.

Lastly, Bertrand will begin his keppra wean tonight. He is moving down to 400mg in the morning and 300mg in the evening. We hope to see no increase in his seizure activity. An increase in alertness would be a plus. He should be finished with the wean by his neurology follow-up in September when we will look at adding topamax. Bertrand also has a confirmed 10/12/2011 follow-up at Cleveland Clinic's Epilepsy Center.

Medication Changes

Bertrand had an appointment with his neurologist today. We updated her on everything including the changes in Bertrand, both positive (mood, interactivity) and negative ("weird looping seizures"). The neurologist is pleased with his progress and believes that Bertrand's new seizure type is actually a kind of partial seizure, since he retains some consciousness and it affects him asymmetrically.

Bertrand's blood draw from last week had his depakote *just* in effective range and his lamictal high in the effective range. We will be increasing his depakote to 250mg twice a day and lowering his lamictal (since depakote raises lamictal levels) to 25mg twice a day. Another blood draw will be taken next week and then in a month. If Bertrand's seizures have improved by then, we can begin a SLOW wean from keppra (800mg will take 8 months).

It is worth noting that Bertrand's liver enzymes have remained steady or have even fallen while on depakote and lamictal, both of which are metabolized in the liver. Depakote is known to be particularly harsh on the organ. Not resting on our laurels, we are upping Bertrand's carnitine supplement (Carnitor SF) to 4.5mL twice a day, which should continue to protect the liver. And, since depakote binds with vitamin D, Bertrand will be getting plenty of sunshine this summer along with his 1000IU vitamin D supplement. :)

If Bertrand's seizures do not improve on this current drug cocktail, we've already begun discussion on the addition of another drug: topamax. Topamax is known to work well on multifocal seizures, which are the kind Bertrand has. We know that there is an very small chance that a 4th antiepileptic drug will help, but of course we have to try. Bertrand has little to lose from another failure but so much to gain if we succeed! We will never give up.

PS - I am very proud to say that Bertrand was congratulated on his weight AND his weight-bearing!

Announcement of the Relocation of the Program for Neurodevelopmental Function in Rare Disorders

I am pleased to announce that the Program for Neurodevelopmental Function in Rare Disorders (NFRD) will be moving from the University of North Carolina at Chapel Hill (UNC) to the Children's Hospital of Pittsburgh of UPMC (University of Pittsburgh Medical Center). The Program will be receiving additional support for the infrastructure and clinical effort that will better serve our patients and their families. The NFRD will continue to collaborate with Duke University and the Gene Therapy Center at UNC. I will be maintaining a faculty appointment with UNC to continue our work towards developing alternative treatments for rare pediatric neurodegenerative diseases.

This move will be in concert with Dr. Paul Szabolcs acceptance to be Chief of the Division of Pediatric Bone Marrow Transplantation at Children's Hospital of Pittsburgh of UPMC. Dr. Szabolcs will be working closely with the NFRD clinic to continue the level of care that our patients have come to expect.

Unfortunately this move will require the NFRD to abstain from making clinical appointments for the months of July and August. However, please continue to contact us for any issues regarding patient care. We will start taking appointments for September during the month of May.

I apologize for any inconvenience this may cause our families, however, the closure is necessary in order to relocate to our new facilities. As always our hopes and best wishes are with all of our families.

Please watch for further announcements from the NFRD, which will provide details about our new facilities, as well as our new contact information.

Sincerely,

Dr. Maria L. Escolar

Medication Update (& Baby Watch)

Bertrand & Mama cuddling on the couch.

The lap space may be getting tight but there will always be room for Bertrand!

Medication Update:

• While Bertrand's depakote levels were barely in effective range at their trough, his lamictal level was 9 at trough with an effective range of 3-14. This means we can't raise his lamictal.
• Bertrand's depakote was raised to 375mg (125mg AM, 250mg PM) and resulted in a night owl! The medication is supposed to make him sleepy, but fewer seizures make him more conscious and interactive. Once the level evens-out in his blood, this should resolve.
• Bertrand will get his all of his blood levels (including medications, liver, vitamin D, carnatine and others) drawn in another 1-2 weeks. There is concern for his increasing liver values.
• He will then have another blood draw on May 17th after seeing his neurologist. She says that depending on his seizure & liver activity, we will consider raising Bertrand's keppra next.

Baby Watch:

Regular readers of this blog know that Bertrand's little sister is due today! Plenty of signs indicate that she will be joining us soon. We will keep you all posted. :)