Miss Manners and the Mobility Scooter

An hour ago, Bertrand and I were leaving an appointment when an interesting interchange took place. We were almost to the parking deck when I noticed a lady coming up behind us. I held the door open for her and narrated quietly to Bertrand, "we're holding the door open for a lady." I don't think she heard me but she proceeded to ram the door and said, "I can get it myself!" I turned to her, looking her in the eye, and said, "I was just teaching him that ladies go first. It's never too early to start teaching kids manners."

I moved to get out of the way, but turned as she started laughing--almost hysterically. With a huge grin on her face she told me, "that's very nice!" To which I responded, "I am from the South. No son of mine will forget his manners!***" She laughed and smiled all the way to her car. Which had my mind spinning. What was so freaking funny?! Lots of moms teach their kids manners! Was it that he appeared too young because he was in a stroller? Was it because she thought it could be sexist?

After I finished loading Bertrand and everything into the car, and as I settled into the driver's seat, I watched her drive past us with her scooter on the back of her car. And that's when it hit me! It was probably because she was in a scooter!!! (Oh yeah, I forgot to mention that this lady was using a mobility scooter.) It was a weird realization to me that I DIDN'T NOTICE HER SCOOTER. I am 5 foot 10 inches tall, people. I obviously looked down at her and I must've seen it, but it didn't register. It didn't occur to me as a reason for which Bertrand and I should treat her differently than any other lady.

I could give you a full description of her face and what shirt she was wearing, but I didn't notice the scooter until she drove off. And, maybe that was it?! Our actions weren't motivated by pity. After her initial overreaction, what apparently made her day: we'd seen her as a lady rather than a scooter.

As I pulled out of the parking lot, I was thinking to myself that this was probably a sign that I've spent WAY too much time up at Shriners Hospital... and then mentally smacked myself! NO! This is a sign that I have finally spent just ENOUGH time! EVERYONE should see the lady, not the scooter.

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***Since Bertrand was born I've been gently brain-washing him in the manners and ways of the South. I figure that living in Utah is no excuse! Beyond the non-stop use of "please" and "thank you"--I thank Bertrand for everything from eating well to making peepee and always preface everything I ask of him with please--we go that extra southern step beyond. (1) We refer to all of his nurses, therapists, teachers as "Ms/Miss": Ms. Kirsten, Ms. Meghan, Ms. Michele. It is fused to their names. (2) We make sure to use "sir" and "ma'am" all the time. (No, I don't care how old you are. If you are older than Bertrand, you WILL be sired or ma'amed!) (3) Whether we are opening doors or entering/exiting elevators, ladies ALWAYS go first. Bertrand and I do not discriminate: young or old, girlie or punk, scooter or not. (4) Last but not least, we drink real sweet tea at home. :)

Wisdom from the Rolling Stones: A Mama's Meditation

This is a file from the Wikimedia Commons.

I was just speaking with my friend Karen, whose second little boy is Bertrand's age. Bertrand is sick again today and is missing school. So, somehow our conversation turned back to when we were pregnant with our boys. I couldn't help but reminisce:

• How I'd stricken caffeine, lunch meats, sushi, and non-organic fruits and vegetables (such as peaches and peppers) from my diet.
• How I'd refused to take pain medication or any drugs during pregnancy and post-partum.
• How I'd planned on breastfeeding as long as I could and wearing him as much as I could.
• How I'd been signing with him since birth.
• How many books I'd read on everything from general pediatrics to elimination communication.
• How we'd chosen to run additional tests such as the first trimester screen, to rule out three common genetic conditions.
• How we'd done "everything right".
• How I never knew more about parenthood than I did then! ;)

There is simply no doubt in my mind that having Bertrand in my life has made me an incredibly lucky mom and a much better person. My little zen master has taught me more about patience, compassion, humility, empathy, courage, and virtue than countless books or lifetimes ever could. I have by no means mastered these lessons but I feel like I am finally walking through life with eyes that are open for the first time.

I joked with Karen that, regardless, I would gladly be the same "horrible person" I was before if that would prevent Bertrand's suffering and grant him a full and happy life. :) Thankfully, that's not something I've dwelled on as my darling Mr. Perfect has taught me to find the beauty in living each day--one day at a time.

The illusion of control is one that is very important for people and, it seems in particular, for parents to maintain. Bertrand, far from making my life harder, has made it much easier for me to go through life because I now realize the only thing I am guaranteed control of in life is my own attitude. How appropriate is it then that the Rolling Stones were on the radio, when I turned it on, singing:

You can't always get what you want
You can't always get what you want
You can't always get what you want
But if you try sometimes well you just might find
You get what you need!

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.

Post-Infusion Report

Bertrand receiving his stem cell infusion.

The past two weeks have been surprisingly easy for Bertrand, but tough on his mom and dad. Thanks to all of you who sent thoughts of love and support our way. We couldn't have done it without you. :) We apologize for the lack of an update following such a big event for Bertrand.

Bertrand underwent an autologous hematopoietic stem cell infusion on Tuesday, August 24 at Duke University. In other words, he was given stem cells from his very own umbilical cord blood collected at birth.

Umbilical cord blood consists primarily of red blood cells, white blood cells, platelets, plasma and there are a few hematopoietic stem cells in this mix (in Bertrand's case, a meager 160 million). When a child's cord blood is "banked", the processing center does its best to harvest and save the hematopoietic stem cells through centrifugation, which stratifies the cellular components. Dimethylsulfoxide (DMSO) is then slowly added as a cryoprotectant--a type of cellular antifreeze--and just the stem cells, with a few sneaky red blood cells and plasma, are frozen.

[NOTE: DMSO is the stuff which made Bertrand smell like creamed corn for over 24 hours after the infusion. It is also the reason why Bertrand's IV was first filled with benadryl and solu-medrol, a steroid. Around 1% of kids are allergic to DMSO and you don't find out until the infusion begins. To prevent an allergic reaction to DMSO from occurring during the infusion, patients are preventatively treated for allergic reaction. Which in Bertrand's case meant he slept through the entire thing!]

A bag full of hope: 160 million stem cells.

Why save just the stem cells***? They are the cells capable of differentiating into a diverse range of specialized cell types. And amazingly, they have a propensity to specialize and repair at an area of insult, such as an area of the brain damaged by oxygen depravation.

With Dr. Kurtzberg at the forefront, researchers have been studying this phenomena: that stem cells specialize when they reach areas of insult (injury) in the body--in particular the nervous system (spinal cord and brain). Our understanding of this mechanism is growing rapidly with advances in science, but there is a great deal left to learn, since it varies greatly by individual and injury. What this means, using cerebral palsy for example, is that two children with similar brain injuries can have vastly different outcomes.

Currently there are autologous stem cell infusion trials for cerebral palsy (now in phase 2 clinical trial), hydrocephalus and a general study. (Bertrand falls under the general study.) Dr. Kurtzberg at Duke University hopes that through the double blind trial now underway for cerebral palsy, we may soon learn more about the way autologous hematopoietic stem cells behave, and their effectiveness.

Even though study results haven't come out, one of Dr. K's pending studies speaks loudly to what results may look like. Researchers under Dr. K will be infusing young infants believed to have a predisposition for cerebral palsy (due to some kind of trauma etc. during gestation or birth) with autologous stem cells shortly after birth. Treating these infants proactively, if you will. Reading between the lines, I can see that researchers see a lot of promise in these stem cells and their behavior the earlier in development that they are infused.

Bertrand played and watched Elmo through IV placement and slept through the infusion! This was the easiest procedure he has ever had!

Back to Bertrand! Dr. K was very frank with us from the beginning that we should not expect much, or anything. She is still under the impression that Bertrand's case is an undetermined, inborn error of cellular metabolism and this is the cause of his ongoing brain damage. In such a case, Bertrand's infused stem cells would contain the same genetic error found in his existing cells, resulting in either no change or a temporary one. Bottom line, if we are going to see results, we will see them in three to six months. We won't know what form these results could take until/if we see them. Regardless, we have to email Bertrand's progress every 3 months and return for a follow-up exam at Duke in one year.

TIME MACHINE:
In April 2009 we made our first pilgrimage to see Dr. Kurtzberg at Duke - if she could diagnose and treat Bertrand's then assumed lysosomal storage disorder.

In September 2009 we returned to Dr. Kurtzberg as a follow-up and because Bertrand's neurological condition continued to deteriorate.
In August 2010, we simply infused Bertrand's with his umbilical cord stem cells because his condition had stabilized and it wouldn't hurt.

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***With the prevalence of cancer in today's world it's shocking to me that all cord blood stem cells aren't systematically banked. When an individual with leukemia undergoes a bone marrow transplant, they are really receiving a stem cell transplant. The stem cells found in the bone marrow of a donor--hematopoietic stem cells, mesenchymal stem cells and endothelial stem cells--are transfused with the expectation that they'll go and take up residence where the patient's own bone marrow has been killed by radiation. However, the stem cells found in cord blood are considered superior to the ones found in adult bone marrow. Since the hematopoietic stem cells prevalent in cord are more primitive, when used in place of adult bone marrow stem cells, there is a lower incidence of Graft Versus Host Disease, easier HLA matching, and a host of other advantages. If you don't bank your child's cord blood PLEASE consider donating it to a public bank! Otherwise these life-saving stem cells are tossed away after birth as medical waste!

Why we support genetic research.

Life isn’t fair, but that doesn’t mean we should sit back and accept the injustice of it.

Throughout the quest for diagnosis and treatment over the past two years, I have come into contact with some of the world’s most loving and dedicated parents.

And, I’ve watched in horror as they watched their children, suffering from genetic diseases, slip away from even their tightest grasp.

When the worst came, I cried with them as their children died.

Since his inauspicious beginning, Bertrand has been though many potential diagnoses: brain damage, cancer, ataxia telangiectasia, lysosomal storage disorders, mitochondrial diseases, male Rett, Schinzel-Giedion, Lesch-Nyhan, a host of organic acidemias, and the list goes on. It’s not accurate to say I feel empathy for the parents for children with those diseases--I WAS the parent of a child with those diseases, if for a small time.

Bertrand has been studied by experts at the National Institutes of Health, Johns Hopkins, Duke, UNC, Baylor, and the University of Utah. He has been put through a battery of painful tests and treatments. Yet, his future is still uncertain because the precise genetic cause remains unknown.

Each time his diagnosis shifted or narrowed, I met a new set of children's faces that I'll never forget--to me, each of those children was Bertrand. I can’t forget the agony of their parents--it was my agony. Running the diagnostic gamut left so many marks on my soul... I want to do more than just save Bertrand. I want to save all the children he once was and all the children he could still be.

Bertrand's case, although medically unique, is sadly anything but unique in the special needs world. He was born to loving, healthy, young parents with diverse genetic backgrounds. He received the best prenatal care: vitamins, organic foods, frequent check-ups, no exposure to smoke, alcohol, or drugs of any kind. Every caution was taken, including a first trimester screen to rule out common genetic diseases. Ultrasounds at every trimester showed a healthy normal baby boy. Even at birth he scored perfectly on the APGAR.

That’s why I support genetic research. I am particularly excited about Rapid DNA sequencing--a vital tool for researchers discovering the cause of diseases as well as the researchers developing the gene therapy to treat them. Rapid DNA sequencing stands to benefit Bertrand and all other kids with rare and not-so-rare diseases.

Rapid DNA sequencing even stands to benefit me. It will be used in the very near future to warn of predispositions (thereby ensuring earlier screening and treatment) for conditions such as cancer, heart disease and stroke, all of which run in my family.

We ALL stand to benefit from the research enabled by rapid DNA sequencing, but it means the most to those facing life threatening conditions today.

If you haven’t already, please consider spreading the word about the importance of genetic research and consider donating to Bertrand’s Fund either directly or by purchasing a copy of The Illustrated Guide to a Ph.D. (all proceeds go to genetic research). Bertrand’s Fund supports genetic research being conducted at the Nobel-prize-winning Eccles Institute of Human Genetics at the University of Utah.

Life isn’t fair, but that doesn’t mean we should sit back and accept the injustice of it. Please support genetic research.

Gelastic seizures?

Bertrand has continued to get "foggier" as the effects of the steroids attenuate, and his seizures return.

We're also trying to figure out if he's having gelastic seizures.

These episodes seem to come at random, and I captured a couple on my cell phone camera.

Here's one in the hospital registration room:



Here's another one outside at Barbacoa:



What has us concerned is that there are no (obvious) triggers for these episodes.

He'll be sedate, or even a little bit grumpy, and then he bursts into these moments.

Is he genuinely happy? Or are there gelastic seizures?

Are we being paranoid?

Emily Dickinson: Poet, Recluse, Epileptic**?

Photograph by Jack Illingworth.

"Hope" is the thing with feathers—

That perches in the soul—

And sings the tune without the words—

And never stops—at all—

And sweetest—in the Gale—is heard—

And sore must be the storm—

That could abash the little Bird

That kept so many warm—

I've heard it in the chillest land—

And on the strangest Sea—

Yet, never, in Extremity,

It asked a crumb—of Me.

Emily Dickinson

Emily Dickinson's words have inspired generations. In particular, the poem above seems to have struck a chord within the special needs community--perhaps because Emily Dickinson is one of us?

Known for her reclusiveness as much as her creativity, it was long thought that Ms. Dickinson suffered from mental illness. New research revealed in her biography Lives Like Loaded Guns: Emily Dickinson and Her Family's Feuds indicates that her condition was more neurologic than psychiatric. According to author Lyndall Gordon, the drugs prescribed to Ms. Dickinson were ones used at the time for epilepsy.

With the diagnosis of epilepsy, many strange aspects of Emily Dickinson's life tumble into coherence. Her reclusiveness transforms into the common fear of having a seizure in public. Her unmarried state is due to the stigma associated with seizures--in many states "epileptics" were forbidden by law to marry. Her white wardrobe and adherence to routine? An attempt to reduce overstimulation and resulting seizures. Even her creativity? Temporal lobe epilepsy has long been associated with creative genius.

This book doesn't focus solely on the poet's epilepsy; it includes the many familial struggles she faced. But, given the hurdles which individuals with epilepsy still face today, the beauty that Emily Dickinson managed find and create is made even more astounding.

Thanks to Lyndall Gordon's investigation, Emily Dickinson, who has long inspired us with her words, now inspires us with her life.

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**Disclaimer: I am using the word "epileptic" here for historical accuracy and grammatical consistency. The term "epileptic" is no longer used, as individuals suffering from epilepsy are not defined by their condition. After all, no one refers to someone suffering from cancer as a cancerian, right? That said, as I've witnessed some spectacular showdowns over the use of the E-word, please don't crucify me!