October 31, 2011

Halloween 2011

"Hey Mama! We're both pumpkins!"

"What do you mean, I'm not allowed to eat leaves?!"

"I look dashing in my hat."

"Are you suuuuure I can't eat leaves? They look and sound so tasty."

"Okay, then I'm taking my hat off so I can eat my hat!"

At the last minute, Victoria and Bertrand had to abort the plan to wear their new halloween costumes because the new costumes were HUGE. (I'm going to keep the identity of those a surprise because they'll wear those costumes next year.) So, Bertrand reprised his role as Elmo from last year and Victoria rocked the baby pumpkin outfit--Bertrand's 1st halloween costume. :) The kids looked precious!

Bertrand was halloweened-out after his school party, but Victoria had plenty of energy left to enjoy the holiday. We went lights-out at 8:30pm after passing out 80 treat bags! We saw lots of great costumes and caught-up with many of our awesome neighbors.

Happy Halloween to everyone!

October 28, 2011

Intensive Therapy: Week 3 Recap

Bertrand completed his 3-week intensive physical therapy session at Now I Can.
It was wonderful! We can't wait to go back!

Until then, the folks at Now I Can sent Bertrand home with a lot of goodies.

Personalized exercise plan.

Certificate of completion.

Awesome report card.

Fashionable "Now I Can" t-shirt.

Lovely notes from his therapists, Sergio and Natalie.

And, stickers and cupcakes from Natalie!
Oops! The cupcakes disappeared. How did that happen? ;)

Bertrand will also receive a video of his time at Now I Can. I'll be posting the video once I receive it and once both my teeny bosses permit. :)

October 26, 2011

Wordless Wednesday

(Only 2 days of intensive therapy are left.)

October 21, 2011

Intensive Therapy: Week 2 Recap

Bertrand just wrapped-up week 2 of his intensive physical therapy session at Now I Can. With one week left of treatment, he is sitting longer, his back is straighter, and his legs/hips look better. The experience has been great, and I am a convert to both intensive and neuro-developmental therapy (NDT) treatment models. Next week, I hope to take some pictures/video of Bertrand's progress. He is slated for another 3 week session at Now I Can in May 2012. Until then, I am hoping to find a NDT certified therapist closer to our home for maintenance.

October 19, 2011

Remembering Great-Grandpa Bud

Bertrand's great-grandpa "Bud" (Matthew's grandfather) has passed away at the age of 90.

These photos are a brief remembrance of the Might-family patriarch, who until mere weeks ago could ride his bike for miles and benchpress a great-grandchild.

Bud served in combat as a decorated Air Force pilot from World War II through Vietnam.

His quiet sense of duty, honor and loyalty made him the prototype for four generations of Mights.

His quick wit and natural charm made him loved, and now missed, by all who knew him.

We are so very happy that both Bertrand and Victoria had the opportunity to spend time with this extraordinary man.

October 18, 2011

Dancing with the Star (Cart)

Bertrand has been using a donated Star Cart at his dance class. Since the Star Cart is no longer manufactured, he now has a very similar Ready Racer of his own! We're hoping he'll learn to push his own wheels in it, opening up the possibility of using a self-propelled wheelchair in the near future!

October 16, 2011

Notes From a Dragon Mom

Alexandra Huddleston for The New York Times

Emily Rapp and her son, Ronan, who has Tay-Sachs disease.

"Notes From a Dragon Mom" By EMILY RAPP
The New York Times: October 15, 2011

Emily Rapp is the author of “Poster Child: A Memoir,” and a professor of creative writing at the Santa Fe University of Art and Design.

Santa Fe, N.M.

MY son, Ronan, looks at me and raises one eyebrow. His eyes are bright and focused. Ronan means “little seal” in Irish and it suits him.

I want to stop here, before the dreadful hitch: my son is 18 months old and will likely die before his third birthday. Ronan was born with Tay-Sachs, a rare genetic disorder. He is slowly regressing into a vegetative state. He’ll become paralyzed, experience seizures, lose all of his senses before he dies. There is no treatment and no cure.

How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?

Depressing? Sure. But not without wisdom, not without a profound understanding of the human experience or without hard-won lessons, forged through grief and helplessness and deeply committed love about how to be not just a mother or a father but how to be human.

Parenting advice is, by its nature, future-directed. I know. I read all the parenting magazines. During my pregnancy, I devoured every parenting guide I could find. My husband and I thought about a lot of questions they raised: will breast-feeding enhance his brain function? Will music class improve his cognitive skills? Will the right preschool help him get into the right college? I made lists. I planned and plotted and hoped. Future, future, future.

We never thought about how we might parent a child for whom there is no future. The prenatal test I took for Tay-Sachs was negative; our genetic counselor didn’t think I needed the test, since I’m not Jewish and Tay-Sachs is thought to be a greater risk among Ashkenazi Jews. Being somewhat obsessive about such matters, I had it done anyway, twice. Both times the results were negative.

Our parenting plans, our lists, the advice I read before Ronan’s birth make little sense now. No matter what we do for Ronan — choose organic or non-organic food; cloth diapers or disposable; attachment parenting or sleep training — he will die. All the decisions that once mattered so much, don’t.

All parents want their children to prosper, to matter. We enroll our children in music class or take them to Mommy and Me swim class because we hope they will manifest some fabulous talent that will set them — and therefore us, the proud parents — apart. Traditional parenting naturally presumes a future where the child outlives the parent and ideally becomes successful, perhaps even achieves something spectacular. Amy Chua’s “Battle Hymn of the Tiger Mother” is only the latest handbook for parents hoping to guide their children along this path. It’s animated by the idea that good, careful investments in your children will pay off in the form of happy endings, rich futures.

But I have abandoned the future, and with it any visions of Ronan’s scoring a perfect SAT or sprinting across a stage with a Harvard diploma in his hand. We’re not waiting for Ronan to make us proud. We don’t expect future returns on our investment. We’ve chucked the graphs of developmental milestones and we avoid parenting magazines at the pediatrician’s office. Ronan has given us a terrible freedom from expectations, a magical world where there are no goals, no prizes to win, no outcomes to monitor, discuss, compare.

But the day-to-day is often peaceful, even blissful. This was my day with my son: cuddling, feedings, naps. He can watch television if he wants to; he can have pudding and cheesecake for every meal. We are a very permissive household. We do our best for our kid, feed him fresh food, brush his teeth, make sure he’s clean and warm and well rested and ... healthy? Well, no. The only task here is to love, and we tell him we love him, not caring that he doesn’t understand the words. We encourage him to do what he can, though unlike us he is without ego or ambition.

Ronan won’t prosper or succeed in the way we have come to understand this term in our culture; he will never walk or say “Mama,” and I will never be a tiger mom. The mothers and fathers of terminally ill children are something else entirely. Our goals are simple and terrible: to help our children live with minimal discomfort and maximum dignity. We will not launch our children into a bright and promising future, but see them into early graves. We will prepare to lose them and then, impossibly, to live on after that gutting loss. This requires a new ferocity, a new way of thinking, a new animal. We are dragon parents: fierce and loyal and loving as hell. Our experiences have taught us how to parent for the here and now, for the sake of parenting, for the humanity implicit in the act itself, though this runs counter to traditional wisdom and advice.

NOBODY asks dragon parents for advice; we’re too scary. Our grief is primal and unwieldy and embarrassing. The certainties that most parents face are irrelevant to us, and frankly, kind of silly. Our narratives are grisly, the stakes impossibly high. Conversations about which seizure medication is most effective or how to feed children who have trouble swallowing are tantamount to breathing fire at a dinner party or on the playground. Like Dr. Spock suddenly possessed by Al Gore, we offer inconvenient truths and foretell disaster.

And there’s this: parents who, particularly in this country, are expected to be superhuman, to raise children who outpace all their peers, don’t want to see what we see. The long truth about their children, about themselves: that none of it is forever.

I would walk through a tunnel of fire if it would save my son. I would take my chances on a stripped battlefield with a sling and a rock à la David and Goliath if it would make a difference. But it won’t. I can roar all I want about the unfairness of this ridiculous disease, but the facts remain. What I can do is protect my son from as much pain as possible, and then finally do the hardest thing of all, a thing most parents will thankfully never have to do: I will love him to the end of his life, and then I will let him go.

But today Ronan is alive and his breath smells like sweet rice. I can see my reflection in his greenish-gold eyes. I am a reflection of him and not the other way around, and this is, I believe, as it should be. This is a love story, and like all great love stories, it is a story of loss. Parenting, I’ve come to understand, is about loving my child today. Now. In fact, for any parent, anywhere, that’s all there is.

October 14, 2011

November is Epilepsy Awareness Month

The Epilepsy Association of Utah is kicking off Epilepsy Awareness month! Here are some of the events:

October 20th & 21st - UEA (Utah Education Association) Convention and Education Exposition
  • at the South Towne Exposition Center in Sandy.
  • the largest professional conference for educators in Utah
  • provides dozens of professional development workshops for K-12 educators
  • keynote speakers
  • a New Educators’ Workshop
  • the Idea Fair
  • hundreds of vendor booths, including the Epilepsy Association of Utah!
    • promoting awareness of Epilepsy to teachers, which will enable them with...
      • knowledge of how to deal with seizures in the classroom
      • ability to discourage oppressive and stigmatizing comments made by classmates
        • so other students can get seizure smart as well!
      • ability to give rescue medication for long-lasting seizures
      • knowledge of awareness activities, events, and conferences

October 22nd - Halloween Carnival, called Whispers in the Park
The Annual Halloween Carnival is an awareness and fundraising campaign, held in October, to celebrate the Spirit of All Hallows Eve. Halloween is a time of celebration and superstition. Of shorter days and longer nights, of roaming between life and death. It's a time when we shed who we are and become the playful, frightening things we have always wanted to become. With gentle whispers, the Epilepsy Association of Utah is taking the superstition and mysticism out of living with Epilepsy and putting those things where they belong: Halloween.
  • at West Jordan Memorial Park
  • from 11:00 am to 8:00 pm
  • Raffles
  • Vendors
  • Live Performers
  • Battle of the Rockbands (the game!)
  • Cake Decorating
  • Costume Contest
  • Games & Activities
  • Photos
  • and MORE!

November 3rd - Artilepsy: Visualizing Hope
  • Free Art Galleryby people of all ages who are affected by Epilepsy.
    • With statistics of 1 in 26 people developing Epilepsy, we are all affected by it, so there is no reason to not enter in your creation, no matter the media type. :D
  • Entries due October 22nd
  • Many Mediums
    • computer assisted graphics
    • creative arts (home crafts)
    • fine arts (paint, pencil, watercolor, oils, etc)
    • music composition
    • photography
      • Be sure to read through the description on the facebook page to access the entry forms and other deatils. (Link to facebook is above.)

November 4th - Night Among the Stars Gala
Come and celebrate a black tie evening and dinner to help Utahn's dealing with epilepsy. Dinner will be held at Noah's in South Jordan, Utah. Tickets are available for $100/plate or $700 per table of eight. We will be also selling gold and silver dedication stars for $10 and $24 each which will hang at the gala. Let a loved one know you think they are a star! Click on the link above to register.

November 5th - Seizure Smart Education Conference.
This is a great opportunity to come and meet with a few neurologists and find new information from the medical community. It is also a great place to get outside references. We will have the privilege of hearing from Glenn Fenster. Glenn has bicycled six times across the United States to raise awareness for epilepsy on behalf of his son and all those affected by epilepsy.
  • at the U of U Neuroscience Building
  • 9:00 am to 1:00 pm
  • FREE to attend
  • get seizure smart
  • workshops/classes to educate yourself and others about Epilepsy.
    • including a breakout session with Holly E. Ferrin about dealing with the social stigma and oppressive forces of Epilepsy.

October 13, 2011

Born to be wild.

Bertrand and his physical therapist, Sergio, had a lot of fun playing on this motorcycle parked next to our van!

Sergio can turn anything into an opportunity for physical therapy!

Of course, it also helps that Bertrand has a history of riding motorcycles. ;)

October 12, 2011

Part Boy. Part (Kinesio) Tape.

Can you spot the differences in his hip, leg and foot positions?

Today began Bertrand's kinesio tape therapy as part of his intensive therapy session at Now I Can. The application process was so amazing that I took 153 photographs. The tape was applied to his legs, feet, pelvis, back, upper arms and even his face!

Tape aiming to stabilize Bertrand's pelvis and correct some scoliosis.

And, this was just Day One.

Can you spot the world's cutest cheerleader?

The kinesio tape will eventually be applied to his arms, hands, and abdomen as well. This was drastically different from his first experience with therapeutic kinesio taping waaaaaay back when.

...and so began the legend of dread pirate Pink Beard.
(We'll see if the tape helps to lessen or stop Pink Beard's drooling.)

October 11, 2011

First Full Day of Intensive Therapy

Bertrand's goals and therapy schedule. Shooting for the moon...

Today was Bertrand's first full day of intensive therapy. He did GREAT! Bertrand ended up missing both school and dance class from utter exhaustion.

Heck, we are ALL wiped out! So, this post will be low on explanation but high on photographs. Check out Bertrand in the "spider cage" below. Pretty neat, right? :)

October 10, 2011

Intensive Therapy Evaluation Day

Today was Bertrand's evaluation and neurosuit fitting at Now I Can intensive therapy center. I am in awe of how thorough the therapists were! They took full measurements, did range of motion tests, took photographs, took video, asked lots of questions, fitted the neurosuit, worked with him... and even more amazingly, Bertrand tolerated it all well! I feel that they established a solid baseline from which we can work and measure progress from.

Bertrand went to school after the therapy and, while he took a brief nap there, he was alert and happy when I picked him up. He has been talkative and happy since got home. (We've read his new book "Llama Llama Red Pajama" way too many times already.) I don't know how he is still awake. Matthew and I have been up since 5am and we're ready to drop--but we're so proud of our boy! He has come a LONG way from last year!

The neurosuit includes arm bands too. It's amazing. I'll get more pictures over the next 3 weeks.

October 6, 2011

News Article: "Double Blind"

"Double Blind: The mother of disabled twins doggedly pursued the root of her children’s illness and found it in their genome profiles."

By Cristina Luiggi | The Scientist | October 1, 2011

The Beery family, standing before the sequencer that decoded the genomes of twins Noah and Alexis. Retta Beery
The Beery family, standing before the sequencer that decoded the genomes of twins Noah and Alexis.

At two years of age, fraternal twins Alexis and Noah Beery had not met most of their developmental milestones and had such poor muscle tone they could barely walk or sit on their own. Noah drooled and vomited continually, and Alexis suffered from body tremors during which her eyes would roll back in her head for hours at a time.

An MRI scan had revealed damage in the periventricular area of Noah’s brain, which led to a diagnosis of cerebral palsy. But children with cerebral palsy tend to improve with treatment; in contrast, the twins’ conditions, particularly Alexis’s, worsened over time. When she was 5 years old, Alexis developed respiratory problems and continued to have protracted seizures. She also had extreme difficulty walking and was always off balance.

The twins’ mother, Retta Beery, was most puzzled by the fact that Alexis’s symptoms seemed to fluctuate during the day—they were mild in the morning and became more severe as the day progressed. “By 11 o’clock in the morning she was unable to sit up and unable to swallow,” Retta says. “But if I put her down for a nap, when she would wake up she could function again.”

Tired of bouncing around from specialist to specialist, Retta embarked on an exhaustive review of the medical literature. Then, one spring night in 2002, she stumbled upon an old photocopy of a 1991 Los Angeles Times article that described a young girl whose condition had uncanny parallels with Alexis’s. The girl, Kimberly Nelson, had been diagnosed with cerebral palsy, and the severity of her symptoms ebbed and flowed throughout the day.

John Fink, a neurologist at the University of Michigan, had determined that Nelson had been wrongly diagnosed with cerebral palsy. The fluctuations in her symptoms instead were due to a rare and poorly understood genetic disorder called dopa-responsive dystonia (DRD)—a movement disorder caused by a deficiency in the neurotransmitter dopamine.

Five weeks later, Alexis and Noah were in Fink’s office, and the doctor prescribed Alexis a daily dose of levodopa (a synthetic dopamine).

“That was the first night in Alexis’s life that she slept through the night,” a tearful Retta says. In fact, the following days were filled with many firsts for the five-year-old girl: the first time walking to the car unaided and the first time she didn’t need assistance when eating, for example. “We knew that we were witnessing a miracle,” says Retta.

A few months later Noah’s right foot started to turn in and his head involuntarily tilted down. Beery and Fink recognized it as the onset of DRD and started him on levodopa as well. Not only did the drug correct his posture, but after six years of vomiting every day, “Noah stopped throwing up,” his mother recalls. Except for taking medication, the twins began living normal, active lives, playing sports and excelling in school.

But a few years later, in 2005, Alexis developed a severe night cough, and two years ago it worsened dramatically to the point that she had to inhale a synthetic adrenaline compound every day in order to breathe and sleep normally.

Desperate to get to the bottom of her children’s mysterious illness, Retta asked her husband, Joe, who had recently become the CIO of Invitrogen (now Life Technologies), to look into the possibility of having the twins’ genomes sequenced.

In the fall of 2010, the twins’ blood samples were sent to the Baylor College of Medicine’s sequencing center, where they were analyzed by a multidisciplinary team of researchers and physicians and compared to the samples from their parents and close relatives. The researchers found that the twins were compound heterozygous: each inherited a nonsense mutation from the mother and a missense mutation from the father, with both mutations occurring in different regions of the gene that codes for the enzyme sepiapterin reductase (SPR), which catalyzes the production of a cofactor—tetrahydrobiopterin (BH4)—necessary for the synthesis of the neurotransmitters dopamine and serotonin.

Not only were the twins deficient in dopamine, but they were also producing dangerously low levels of serotonin. When the doctors added 5-hydroxytryptophan (5-HTP), a serotonin precursor, to their treatment regimen, Noah’s drooling and motor skill problems vanished and Alexis’s breathing went back to normal.

Alexis, now 14, was able to run track (and place in the top three) in her spring semester, and Noah played volleyball in this year’s Junior Olympics.

“For the first time, we based a medical management treatment on a molecular diagnosis that was established through genome sequencing,” says James Lupski, a geneticist at Baylor College of Medicine who led the copy number analysis of the twins’ genomes. He adds, “This was no brilliant doctor, this was no new technology. This was a mom trying to figure out her child.”