October Progress

Bertrand
We had a parent-teacher conference in preparation for Bertrand's December IEP meeting.  Bertrand is doing well in school, and making good progress toward his IEP goals.  Given his progress at school and at home, we broached the topic of increasing physical and occupational therapy efforts at school.

Victoria
At Victoria's 18 month well-child check we learned that she continues to grow and exceed developmental expectations.  Our once teeny peanut is now 43rd percentile in both weight and height, and a ridiculous 75th percentile head circumference.  Clearly, she eats enough.  :)

Keeping things interesting - Take 2

Remember that post yesterday where I said, "Matthew and I are increasingly optimistic that he could be discharged tomorrow"?

HA. HA. HA.

Bertrand's discomfort and heart rate skyrocketed this morning.  His heart rate broached the 180s and stayed in the 170s for a large portion of the day.  He was transferred to Peds and then the NICU team got involved.

After lots of oxycodone, epinephrine breathing treatment, intravenous methylprednisilone (a.k.a. SoluMedrol), intravenous morphine, intravenous antibiotic, 3 boluses of fluid on top of his regular maintenance fluids, (and more steroids on the way)... Bertrand's heart rate is down to the 140s and he is much more himself.

We still don't know what went/is wrong.  Many of his labs, including the blood culture looking for signs of infection, are still pending.  However, we do know that his white blood cell count is high but his cortisol is low, which isn't helping any if he is trying to fight an infection (hence the additional steroids on the way).

So, yes, Bertrand is still keeping things interesting.  ;)  Fortunately, he is in good hands and we expect he'll be feeling better soon eventually.

PS - Happy birthday, Titi Saby! We wish we could be celebrating with you with all our hearts.  We love you!

Tonsillectomy?

Bertrand as he was discharged last week.

Bertrand wakes up a lot at night.  His prior sleep study was hard to interpret due to his epilepsy.

However, it's believed that he may have some sleep apnea.  He will be evaluated by an ENT since his tonsils are a bit large.

If the doctor believes there is merit, Bertrand may get his tonsils removed.  This may actually be easier and less costly than another sleep study.

Despite having a referral, getting in to see the ENT has been a nightmare.  I'll be going in person tomorrow.

Complications from Depakote

The likely culprit for Bertrand's recent hospitalization was depakote.  This has been the most effective seizure medication for him to date, but it has many nasty side-effects.  We were aware of many side-effects, including liver damage, and were monitoring him for symptoms.  Now we have to watch for a few more: hyponatremia (low sodium) and bone marrow suppression.

Bertrand caught a typical virus.  (He goes to preschool, therapy, dance, playgroup... he could've caught a bug anywhere.)  And then entered a vicious cycle, due to undiagnosed hyponatremia and bone marrow suppression.  The hyponatremia alone could've killed him.  Normal values are 135 mEq/L.  He was at 4 mEq/L.  The bone marrow suppression resulted in low counts for all blood cell types--white, red, and platelet.  To fight an infection, you need plenty of all of the above.

We are incredibly lucky that Bertrand got sick exactly when, where, and how he did.  He was already in the hospital (for a different procedure), with the A-Team for doctors.  They acted fast, and he is now on the mend.  Bertrand sure knows how to keep things interesting!



A few more items learned from this week:

The targeted dosing greatly changed Bertrand's nighttime EEG!  He is no longer in status epilepticus at night, which means the valium protocol is no longer right for him.

The looping episodes, of which multiple were caught on EEG, are NOT seizure activity.  In fact, Bertrand's EEG is almost normal at those times.  These are periods of alertness and a manifestation of his movement disorder.

Once Bertrand is well, we will conduct another sleep study to see if apnea is waking him at night, thereby triggering those looping episodes.

We will also see about lowering/eliminating Depakote, and/or we may continue to tweak his medication dosing to target the night seizures better.  As a substitute for Depakote, Bertrand may try Clobazam.



Next Monday, Bertrand has appointments with his pediatrician and his metabolic doctor to follow-up.  He'll be getting labs drawn then too.

To be on the safe side, I've ordered some salt tablets for him.  Each pill contains: 215 mg sodium, 63 mg potassium, 11 mg magnesium, 22 mg calcium, 100IU Vitamin D.  Bertrand can take 1,200mg of sodium per day, so depending on what he has to eat on any given day, he may get 1 or several.

Paranoid much? me?!  Nah.

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. :)

___________________________________________

*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. :)

Juggling

It's hard to believe that sweet baby almost gave her brother a black eye! She was trying to feed him his bottle.

It feels like I am juggling--more so than usual. Bertrand is doing well and we want to take advantage of his receptiveness. Of course, this isn't straightforward. Here are some of the items on my mind:

• Valium Protocol - The epileptologist finally called me back! She had not forgotten to call in Bertrand's prescription. She had just forgotten to call to tell me she had changed her mind. She wants Bertrand to commence the valium protocol inpatient. I am scrambling to schedule that next week during his spring break.

• Aqua-therapy - Miss A, Bertrand's home physical therapist, is studying aqua-therapy. And Bertrand starts it with her today! (We've tried for years to get Bertrand in with a local aqua-therapist without luck.) I am scrambling to get a +1 membership to our local pool.

• Power Wheelchair Training - Also with Miss A, Bertrand has been making lots of progress with the practice power wheelchair at Shriners. We are going to touch base with the therapist in charge of chair evals at Shriners on Monday. Scrambling to get last minute practice in.

• TAOS - On Monday morning Bertrand will be fitted with his TAOS! Fingers crossed. I've watched the parent information video about 10 times now. I think I could put Bertrand in it in my sleep.

• Medical Care Meeting - In about 2 weeks, I will be meeting with Bertrand's pediatrician to talk about the quality and management of his medical care. I'll probably share my list of concerns before then.

• Saying Goodbye - Yesterday, I received the sad and unexpected message that Bertrand's fabulous mobility therapist was being transferred. This seems thoughtless and potentially damaging on the part of the Salt Lake School District. Bertrand loves his Miss Liz. It takes a looong time to earn Bertrand's love. There is almost no chance that with only 2 months left in the school year he will adapt to another person. Or that another person will learn how to best communicate and work with him. Losing Miss Liz could arrest not only Bertrand's progress but that of the other kids in his class. I hope that the district sees it's folly and let's us keep Miss Liz!

So there you have it. Lots of scrambling and some worrying (hopefully unnecessarily) on my part. Wish us luck! And you better believe there will be some aqua-therapy pictures here tomorrow. :)

Vitamin A Deficiency

Everyday since beginning supplementation, it has become crystal clear to us that Bertrand was extremely deficient in vitamin A.

We have seen a lot of changes in Bertrand and, almost every time we google, it turns out that vitamin A is involved.

Vitamin A is important for more than just tears. Pretty much every moisture producing gland in your body (and there are LOTS) uses vitamin A.

So what are some of the changes we see in Bertrand? (Beware, there may be TMI for some.)

• Tears - Self explanatory.
• Styes - These are blocked oil glands in the eye lid. Now that the oil glands in his eye are coming back on-line, he has had at least 10 of these bad boys. I have to scrub his eyelids twice daily so they pop on their own. Lovely, right?
• Cradle cap - Also known as seborrhoeic dermatitis, this is caused by overactive oil glands in the scalp. It has gotten better after using Head & Shoulders shampoo, but there are still plenty patches left to pick off. Double lovely.
• Cough - Turns out that the lung has moisture glands that help with respiration. If they are going into overdrive like all his other glands, I can imagine it's uncomfortable. He is coughing a LOT. Maybe all the productive hacking will FINALLY get rid of that patch in his lung from pneumonia over a year ago. I can hope, right? (Coincidentally, his oxygenation high value rose from 95% to 100% for the first time. This may also be B12.)
• Snot - Oh. My. Goodness. There are rivers flowing from this child's nose for the first time EVER. I wipe his nose, turn my back for 2 seconds, & turn back to see his face covered again. Every tissue box in the house is depleted. Moving on...
• Bowel movements - He is having at least one every day--no miralax needed. They seem to have a coating?! Google... yup, your intestines all have mucous glands. I'll stop here.

I didn't even realize how weird (and time consuming) it was to slather my child in Cetaphil and Aquaphor multiple times a day, shove Ayr up his nose nightly, add Miralax to his drinks, set-up the humidifier in his room, put drops or ointment in his eyes every 2 hours... until now.

And, to be honest, I am angry. Furious, even.

It's more than the scar on the cornea of his right eye. It is every strained bowel movement he suffered. Every time we had to pin him down, screaming, to put drops in his eye, or dig un-yielding snot rocks from his nose. Every cold he couldn't shake. Every hospitalization. Every tear he couldn't shed.

All the pieces of the puzzle were there. So why did I have to be the one to put it together?! We've paid "experts" hundreds of thousands of dollars to poke & prod my poor child. And, at least for these symptoms, a simple vitamin supplement was what he needed all along?!

I am horrified. And, not just for Bertrand, but for all the other children and their parents, who are also overwhelmed, but lack the energy, stubbornness or chutzpah necessary to second guess the experts.

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.

Plan for Better Bones

Bertrand tearing into his Valentine's haul from school.

Bertrand had a fabulous physical therapy session at Shriners and afterward we had an appointment to discuss Bertrand's bone health with his pediatrician. Not only are broken bones painful for Bertrand, but they set him back developmentally--he has yet to recover fully from his broken leg in October. Bertrand broke both his humerus (upper arm) and his femur (upper leg) in 2010, so we want to plan to prevent additional breaks.

The discussion with his pediatrician went fantastically well. We covered topics including: water therapy, weight bearing, vibration therapy, vitamin D, calcium & phosphorous supplementation, bisphosphinate injections, medication interaction (prevacid, depakote), & more.

His pediatrician believes that Bertrand does have low bone density (just like any other child with a neurological disorder would have), so a dexascan wouldn't reveal anything new. However, his breaks have occurred in very typical locations for a child his age and his last bone break may have been due to a growth spurt. Therefore, she is not convinced that his bones are that bad.

Furthermore, Bertrand is still young, he is doing way better than expected (yay!) and there is a lot we can do to build his bones naturally--which would be less brittle than bone created through something like bisphosphinate injections.

Bertrand's Plan for Better Bones:

• Supplementation: We'll do a 3 day food diary to estimate his current calcium, vitamin d, and phosphorus intake. We don't want to overdo the calcium because Bertrand is prone to kidney stones, but we do want to optimize the calcium while bombing his system with vitamin D. We'll adjust his diet accordingly.
• Medication: Along with monitoring levels of vitamin D, calcium, etc., we'll also keep an eye on medication levels and limit those with negative interactions whenever possible. Bertrand will have a Ph test done during his EGD in early March to see if staying on prevacid is necessary now that he is older.
• Sunshine: While sunburns are a big no no, Bertrand will be encouraged to spend lots more time outside with minimal sunscreen to improve vitamin D absorption.
• Water Therapy: To encourage weight bearing with minimal resistance, Bertrand will begin water therapy. This task is being gratefully delegated to Bertrand's Nana, who is a swimmer & enjoys the water. (I detest pools, the beach, and even bathtubs.)
• Stander Time: Bertrand will have his stander re-adjusted at Shriners and we'll become religious about building up his tolerance back up to 2 hours in the stander daily.

PS - Bertrand's pediatrician will take Victoria (Bertrand's sister due in April) on as a new patient even though her office says that she is not taking any more! :) It is such a relief that any early warning signs will be caught!

PPS - Bertrand is back to having horrible drop seizures and myoclonus. We're hoping that he's either sick, or it's the increase in Lamictal, or the drop of the Zonegran, and not his pharmacoresistance rearing its ugly head again. He'll be seeing his neurologist tomorrow. We'll be talking depakote.

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.

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!

Ortho, Pediatrics & Neuro! Oh my!

Bertrand's femur.

Most of the time, I am shocked by how little is accomplished in one day. This morning, I was shocked by how much was accomplished in one hour.

8:00AM Orthopaedics

Bertrand got an x-ray and was seen by doctor Dr. Stephanie Holmes. (Out of the 4 orthopaedic doctors we've seen at Primary Children's Medical Center, Dr. Holmes is my favorite.) She cleared Bertrand's use of the stander (2+ hours, start slow), recommended some stretching, and mentioned permiginate IV as something we should discuss with B's pediatrician. Dr. H's thought is that the bone created with permiginate is more brittle, which may not be what we want as a part of Bertrand's issue is that he doesn't brace himself when he falls.

8:30AM Pediatrics (& Starbucks)

Bertrand's stuffy nose disappeared last night, so this was simply a paperwork run. Bertrand delivered several forms for his pediatrician to fill-out, including his Utah DMV Form TC-842 "Disabled Person And Physician Disability Certification" to apply for a disabled person's car plate or placard. That his disability is deemed "permanent" rather than "temporary" (yes, the doctor has to check a box) was a bit depressing for me, so that led to a pumpkin spice latte--the ultimate comfort drink--at the hospital Starbucks.

8:45AM Neurology

At the elevator we ran into Bertrand's neurologist. She didn't like the way Bertrand was looking or how tired he was. She asked after his genomic sequencing (results come January) and was unhappy to hear he'd suffered another break. She wants Bertrand to have a dexascan. Furthermore, she said she'd follow-up with her colleagues at Johns Hopkins to see who the best 2nd opinion on Bertrand's myoclonic-astatic-epilepsy (MAE / Doose Syndrome) would be, so she could write us a referral. In her opinion Bertrand isn't getting worse but he isn't improving. "When I run into my patients I think it's fate trying to tell me something."

Clearly, fate approved my Starbucks run. ;) I hope to hear from the neurologist soon, but if not, I foresee a follow-up email later today! In the meanwhile, I need a nap.

Pneumonia Scare 2.0

This morning Bertrand went in to see his pediatrician. This was the 3 month follow-up for his RSV/pneumonia/edema episode back in June. It was convenient timing since he'd already managed to pick-up a bug after only 2 days at preschool.

Honestly, we didn't go into the appointment thinking that much of Bertrand's condition--he just had a cold, right? Well, our pediatrician was a lot more concerned. From her examination, Bertrand sounded like he could have a little fluid in his lungs. Also, his breathing was labored and heart rate was elevated. She sent him in for chest x-rays.

What the radiologist found was some "stickiness" in his lungs. Bertrand's doctor is not sure if it is new (he is developing pneumonia) or if it is leftover from his RSV/pneumonia last June. He has to go back in to see her early next week. If he's not better by Monday, he gets another x-ray and he'll start oral antibiotics if it is pneumonia.

In the interim, if he starts to have labored breathing and needs oxygen again (we have to use the pulse-oximeter) we have to page her and take him in. She believes what he has right now is viral but could turn into a sinusitis or pneumonia very easily.

He was put on a stress dose of prednisone (15mg) and motrin. We have to roll Bertrand around and such while he is awake (since he is pretty sedentary) to keep stuff from settling in his lungs. Sadly, he can't go to school until he gets better.

I'm hoping the "stickiness" was leftover junk from his June hospital stay and Bertrand will be back and in learning form by Monday.

Hospitalized

Tonight, Bertrand is staying in room 3031 of Primary Children's Medical Center (PCMC). He is in isolation with a confirmed case of RSV and possible pneumonia. However, Bertrand's chest x-rays taken today were unable to show pneumonia, or his lungs for that matter, as his entire abdominal cavity was crammed with poop.

This is a troubling dilemma. Don't get me wrong, I have all fingers and toes crossed that this remains the extent of Bertrand's ills! But, Bertrand's has at least one bowel movement everyday. And, how is such a level of constipation even possible on the amount of miralax that kid is on?! At least the poop may begin to explain his massive belly and weight gain (in spite of dropping his calories). It may also help to explain Bertrand's persistent dehydration.

Bertrand drinks between 2 and 3 liters of fluid per day--well above the 1250mL recommended amount for a child his size and age--yet according to his labs Bertrand consistently appears dehydrated. In human physiology, extracellular fluids are distributed between the interstitial compartment (i.e. tissue) and intravascular compartment (i.e. plasma) in an approximately 75%-25% ratio. Third spacing is the physiological concept that body fluids may collect in a "third" body compartment that isn't normally perfused with fluids. Could it be possible that Bertrand's body is having to divert fluids from his blood to other parts such as, well, his poop storage?

I dunno. It's late and you can tell I am exhausted when I start coming up with brilliant medical terms like "poop storage". And on that note, we'll just have to wait and see if Bertrand's milk and molasses enema (what weirdo decided that would be a perfect combination to put up someone's you-know-what?!) this evening did it's job and the x-rays tomorrow show lungs. Hopefully clear ones.

PS - Bertrand is officially no longer on the ketogenic diet.

The Blood Pressure Saga Continues...

Bertrand on a walk with his great-aunt Shirley today!

Bertrand's pediatrician appointment was interesting yesterday. His blood pressure kept reading as very high in the office. To give you an idea, Bertrand's blood pressure was 152/82 and the high range for his age, height and weight is 105/65-75. Yeeeaaah.

This blood pressure was taken while he was sleeping, but having a lot of jerky movements, which can distort the reading. So we were given two days to get sleeping blood pressures for Bertrand before putting him on blood pressure medication and/or reducing the ACTH.

Guess what we got last night?

113/87! We were pretty excited by how low this was! This was taken on his ankle, and any leg blood pressure measurement is about 10 points higher than that from the inner elbow. Correcting for this would put the values at 103/77. Not bad, huh? :)

All in all, Bertrand is still very irritable and hungry, but his great-aunt Shirley and aunt Jess helped to distract him by going on walks... in the snow. Yes, it was snowing in May! (But fortunately it didn't accumulate.)

Jess and Shirley are driving across the country so Jess can start her nursing program at Johns Hopkins! We are all so proud of her! She unpacked her stethoscope just to take Bertrand's blood pressure. :) And, Shirley gave Bertrand multiple walks and single handedly finished curtains for our bedroom while B was napping! The energy of these two ladies is amazing! They need to drive through Utah more often. :)

A Brief Update

• Bertrand's pediatrician believes that there is a significant chance that his arm fracture may not be a result of his condition--just a normal toddler break. As such, steroids can be left on the table as a possible epilepsy treatment.
• Bertrand's keto team is uncomfortable upping his ratio from 3.5:1 to 4:1 due to his recent lab results. Glucose in particular was a concern. B's neurologist will get back to us on how to proceed re: diet, EEG and steroids.
• Bertrand's medical team will be having a pow wow in the near future with a focus on improving his physical and cognitive development and what trade offs need to be made (bone v. liver v. brain etc.). This would include his keto team, neurologist, pediatrician, geneticist, hepatologist, epileptologist and orthopaedist.
• Bertrand is getting to be more like his mother every day. At physical therapy today it was discovered that he has her same limb length discrepancy (left leg is longer). His stander has been adjusted to compensate and in the future he will need a lift in his right shoe.

Two Year Check-up

Bertrand had his two year check-up today with Dr. Samson-Fang, his pediatrician. There is nobody who doesn't think she is amazing! We're in the fan club too. :)

At the appointment, first Bertrand got his few remaining shots and is through with his vaccines until about age 5. Then, Dr. Samson-Fang and I talked about:

• What the status of Bertrand's team at the hospital is.
  
• How to manage Bertrand's health on the ketogenic diet (supplements, etc.).
• Getting insurance to cover KetoCal or KetoVolve.
  
• Which sugar-free medications he can now use for fever, etc.
  
• Which labs will be run (vitamin D, albumin, PTT--blood clotting function).
• Getting Bertrand on the medicare waiting list (5-7 years).

Going into Bertrand's one month Ketogenic check-up on Monday, I think Dr. Samson-Fang's support means a lot. She liked the ingredient list for the KetoVolve formula (no transfat, plus MCT oil) more than KetoCal's so I am hoping that will give me sufficient leverage to convince our dietitian to let Bertrand give KetoVolve a try.

The next few days will be quite the whirlwind! Tomorrow, Bertrand starts his Musick Garten class. Saturday he has his birthday party. And Monday, Bertrand has an orthopaedic appointment, then a fitting for his leg braces, physical therapy and then his one month keto follow-up! Whew! Glad we're finally healthy again to tackle all this!

End in sight for flu shot odyssey?

Et tu, CostCo? Today, CostCo failed me. I feel like this marks the passing of my innocence or something. We were not able to get a pediatric seasonal flu vaccine at CostCo--although I was able to get the seasonal flu vaccine. Bertrand acted possessed the entire time there, so we kept getting dirty looks. (B was just tired and, as a result, a little extra seizurey since he'd worked hard at physical therapy before being wisked away, and thereby missing his morning nap, in our desperation to get him his flu shot.) Luckily, I derive some pleasure in staying visibly calm and ignoring the ignorant. :-P

However, in reality, I was anything but calm. I was panicked that I'd have to drive to South Jordan or further to find the vaccine for Bertrand. Or worse, we wouldn't get the vaccine in time, and Bertrand's diet initiation would be postponed until December! (Of course, Bertrand just fell into a coma-like sleep while being strapped in to his carseat--he wasn't worried at all.) I decided to call Bertrand's pediatrician's office again, but this time leave a message for Dr. Samson-Fang instead of dealing with her office scheduling staff (who were all unmoved by our plight last time). Bertrand is now getting the shot first thing this Monday morning!

I've been so traumatized by this flu shot odyssey that such a conclusion sounds too good to be true. I won't believe it until after Bertrand is screaming with the Bugs Bunny bandaid strapped to his chunky little thigh.

Positive Thinking

I'm back and I apologize to everyone who reads this blog regularly for having been remiss in my reporting duties! I got burnt-out a few weeks ago. The "not knowing" finally took its toll on me. So, I took a break from being Bertrand's executive assistant and focused on being his mommy. I enjoyed time with Bertrand, friends and family. I threw myself into planning an 18 month birthday party for Bertrand and did what, in my mind, constituted "normal" mommy things.

Coming out of this funk has left me with a mantra (a modified serenity prayer). "Have the serenity to accept the things you can't change. Have the courage to change the things you can. Have the wisdom to know the difference. And, take a deep breath." :) It works for me.

Bertrand had his neurology check-up yesterday and his 18 month well baby check-up today. Both of his doctors were AMAZED at how well he is doing. His neurologist even went so far to say he could be walking by age three to five, *and* she thinks we'll get to see him grow-up. :') I was emotional on the car ride back. So many parents take it for granted that they'll see their child grow up, but for me--hearing that it is now a possibility--I still tear up. I always will.

Bertrand is beautiful and healthy looking. His weight is down to 50th percentile (yay!) and his height is still 50th percentile--so he is finally proportional. :) He was prescribed a once a day dose of valium to be taken before therapy and a new, stronger acid reflux medication. His liver functions will be drawn again tomorrow to see if his weight loss has improved them.

Bertrand still can't get to sitting on his own. He can't stand on his own. He can't hold his bottle or feed himself or crawl. But, cognitively Bertrand is fine! He loves to read... and boss me around. His personality is very strong. He is serious, stubborn, manipulative, arrogant (I never knew one could consider a baby arrogant until him) and often times charming. His displays shock his doctors--and amuse me. :) His therapists frequently don't know what to make of him.

None of his doctors know what is causing Bertrand's movement disorder and neuropathy. They are still very confused. The next MRI in October will tell us a lot. A liver biopsy in July is looking very likely. What's not looking likely is a diagnosis. Matthew and I are prepared to never get one. As long as Bertrand stays happy, healthy and mentally okay, we can make do with that. :)

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.