August 29, 2010

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.

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.


***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!

August 20, 2010

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.

August 18, 2010

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?

August 16, 2010

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.

**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!

August 13, 2010

Stem Cell Infusion Schedule!

Image from

Everything is officially a "go" for Bertrand's stem cell infusion! CBR, the company we stored Bertrand's cord blood with, has transferred his blood to Duke University and the Pediatric Stem Cell Transplant Program at Duke sent our schedule today (see below). We just bought our plane tickets! This infusion will likely do nothing for Bertrand but we have to try it given the successes there have been with other forms of brain injury.

It has been a pleasure talking you about your decision to come to Duke for Bertrand’s reinfusion of autologous banked cord blood cells. We look forward to see you all again. A schedule is listed below for Bertrand’s appointments here at Duke University Medical Center.

Monday, August 23, 2010

8:15am Please check Bertrand in at the McGovern-Davison Children’s Health Center (CHC), 4th Floor, which is our clinic. Bertrand will have vital signs taken, be weighed, measured, and have blood work drawn. The blood work will be drawn by a phlebotomist. The phlebotomist will attempt to collect the blood samples with minimal needle sticks. If the blood cannot be obtained by the phlebotomist, please have the phlebotomist see Colleen McLaughlin, Pediatric Nurse Practitioner, about obtaining the blood samples. Bertrand will also have a head circumference done (his head measured).

Colleen McLaughlin, Pediatric Nurse Practitioner, will take a detailed medical history and perform a physical exam on Bertrand as well as consent for his reinfusion.

Tuesday, August 24, 2010

12:15pm Please check Bertrand in at the McGovern-Davison Children’s Health Center (CHC), 4th Floor. Bertrand will be weighed, measured and have vital signs taken. After check in you are welcome to go to the gift shop located on the 1st floor of the CHC or the cafeteria in the main hospital for snacks. During this time Bertrand’s unit will be processed in our lab. There will be about an hour wait time for unit processing.

Bertrand will be seen by Dr. Kurtzberg after which time an IV will be placed by Dr. Kurtzberg so that Bertrand will be able to receive his cells. It is easier to start the IV, if you have made sure that Bertrand is well hydrated. Bertrand will be monitored in a room in the Valvano Day Hospital. You will be able to be with Bertrand the entire time. You may eat in Bertrand’ room if you wish. He will receive IV fluids for several hours after the reinfusion of cells. Bertrand will be seen by Dr. Kurtzberg prior to discharge.

Please bring Bertrand’ favorite toys to this appointment.

Wednesday, August 25, 2010

Please call Colleen McLaughlin at (919) 668-2657 to let her know how Bertrand did overnight. If all goes as anticipated you may return home.

We look forward to seeing you at Duke. Please have a safe trip to Durham.

A most unexpected talk with neurology

Monday, I went into Bertrand's neurology follow-up feeling conflicted. Bertrand has made amazing progress the past 2 months. He can stand with assistance, he can use his left arm, he can stay on hands and knees for a minute or two if placed there, he can sit without falling over, he is more social than ever, he is eating solid foods, he is making consonant sounds... but he is also seizing again.

Starting a few weeks ago, his myoclonus started making appearances throughout the day and his complex partial seizures show up toward the end of the day. I was optimistic but preparing myself to be terrified by what I saw on his latest EEG.

Unfortunately, I couldn't make heads or tails of Bertrand's EEG! Despite being slightly sleep deprived Bertrand didn't fall into his usual EEG trance. Oh, no! Bertrand was literally bouncing off the walls of his hospital bed! He was rolling back and forth, propping himself up on his forearms, talking at me (some cursing, some pleading, some flirting), trying to look at the computer monitor, playing with the blankets and the bed itself, reaching for toys... and he hadno myoclonus during the session. Of course, he had them before and after, just not during. Ugh!

A moving baby's EEG looks very different from a sleeping baby's EEG. I saw lots of crazy lines but only a handful of spikes. It killed me that I'd have to wait until speaking with Bertrand's neurologist to draw a conclusion. But, what a conclusion it was!

Bertrand's neurologist walked in and said, "if you hadn't told me this was Bertrand's EEG, I would've assumed it was a normal child with a predisposition for seizures. There is no way I would've thought this was a child with a seizure disorder!" The news got even better, as she admitted that she would've never thought Bertrand's EEG could ever look this good and that she was now a "convert" to ACTH and steroids.

However, during the session with the neurologist, even she noted Bertrand's myoclonus and "shakes". She believes that his shaking and possibly even some of the myoclonus could simply be Bertrand's movement disorder, but they look like seizures. To be safe rather than sorry, Bertrand was started on zonegran, a medication best suited for myoclonic seizures.

I have several issues with dismissing his abnormal movements as a movement disorder:
  1. Those abnormal movements disappeared on the ketogenic diet, a treatment for epilepsy.
  2. Those abnormal movements are frequently followed by disorientation, confusion or staring, which are indicative of seizure activity rather than movement disorder.
  3. Occam's Razor: "entities must not be multiplied beyond necessity" (entia non sunt multiplicanda praeter necessitatem). When competing hypotheses are equal in other respects, the principle recommends selection of the hypothesis that introduces the fewest assumptions and postulates the fewest entities while still sufficiently answering the question. This means, why assume a child has both a seizure and a movement disorder if just a seizure disorder could sufficiently describe his condition? I am starting to believe that Bertrand just had epilepsy from the get-go and, because some of his seizures (shakes, jerks, and automatisms) resemble movement disorders, we were led on a wild goose chase.
While at the doctor's appointment, we discussed the possibility of restarting the ketogenic diet, but the consensus was that if Bertrand's seizures could be effectively treated by adding one other medication (zonegran), with minimal side-effects, that would be best. The ketogenic diet combined with the steroids and Bertrand's lack of sufficient weight-bearing poses a very serious risk to his already weak bones. (Last February's broken arm set Bertrand back bymonths developmentally AND made him miserable.)

Unfortunately, the rest of this week has gone horribly for Bertrand. In spite of starting the zonegran on Monday, Bertrand shakes and myoclonus have gotten increasingly frequent and violent. His social awareness is slipping and his irritability/fogginess is rolling back in. Matthew and I are already mourning the loss of our son's personality. Granted Bertrand still has 5 more weeks to achieve an effective level on zonegran in his blood stream, but at the rate his seizure control is slipping, that is 5 weeks too many.

Today, I called the nurse practitioner in-charge of the ketogenic diet at Primary Children's Medical Center to see how soon we could go back on the diet. The ketogenic diet worked immediately by eliminating Bertrand's atonic seizures and reducing his myoclonus to at most one per day. But Bertrand can't restart the diet for another 2 months at the earliest.

I want to be happy about what Bertrand has achieved so far, but I am devastated. Bertrand is already slipping away and the next stage of the prednisolone wean is supposed to start Monday. How can I avoid losing my baby? Do we start the modified atkins diet, doctors be damned? Do we wait to continue the prenisolone wean? Do we increase or reduce one of his medications (keppra, zonegran)? You should never change multiple variables at once but the temptation is almost impossible to resist when your child's welfare is at stake.

August 11, 2010

A fit of laughter, then confusion

For the past couple days, Bertrand has been acting strange.

He's been very tired, and he's been having lots of small myoclonic seizures.

But, he's also burst into fits of laughter.

We were in the grocery store when this happened:

He didn't really respond to us during it, and afterward, he seemed to go into a fog of confusion.

While we're happy he's laughing more, we don't like the confusion that sometimes follows.

We've been left with more questions: Is it the new medication, Zonegran? Is his Keppra too high or too low? Should we put him back on the ketogenic diet?

As always, we're going to take our scientific approach to determining the cause of the seizures and the exhaustion.

August 9, 2010

Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases

At least two, if not all four, of the beautiful baby boys in the picture above have rare diseases.
They want and deserve more hope!

Please write your senators to support the Creating Hope Act 2010. This brilliant bill incentivizes pharmaceutical companies with FDA priority review vouchers in exchange for research into rare disease. It motivates the companies to research cures for rare diseases without costing tax payers a dime!

Bertrand has an undiagnosed rare disease and many of his friends, such as Hannah, have rare diseases. Too many of his friends are no longer with their loving families. (We love and miss you, Kyle! 6/27/08 - 6/19/10) And, just today we learned that our dear friend Cole (pictured on the far right, above) was diagnosed with the rare disease Dravet's Syndrome. Our beautiful, wonderful kids deserve a shot at hope--the Creating Hope Act 2010 is a first step.

The post below is written by Chris Hempel, mom to Addi and Cassi, twin girls with a rare disease called Niemann Pick Type C.

Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs!

Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v Cancer, is the person leading the charge on S. 3697 and a priority review voucher system for pediatric rare diseases.

In 2009, Nancy lost her son Jacob to a rare pediatric cancer called medulloblastoma. She is an inspiration to all in the rare disease community!

The Creating Hope Act of 2010 builds upon the Food and Drug Administration Amendments Act of 2007, often called the “treat and trade” program, which established a priority review voucher program for drugs or biologics targeting neglected tropical diseases. At the time this bill was passed, rare childhood diseases were excluded.

The Creating Hope Act of 2010 will encourage the creation of new drugs for underserved children like Addi and Cassi who suffer from serious and life threatening medical conditions by providing a priority review voucher (PRV) as an incentive to pharmaceutical companies who develop drugs for rare pediatric diseases like Niemann Pick Type C.

This is exactly the type of novel incentive system I have been asking for that could fast track cyclodextrin research. For example, with a PRV system in place, I could get a company like Johnson and Johnson to actually take on Niemann Pick Type C disease research and help me make a cyclodextrin drug for Niemann Pick Type C kids. In turn, Johnson and Johnson could receive a priority review voucher that gives them priority FDA review of another application that would otherwise be reviewed under FDA’s standard review clock.

This priority review voucher could be used for a blockbuster drug that a company would want want to bring to market and receiving priority review could mean millions of dollars to a Pharma or biotech company. This is why they would be willing to invest in Niemann Pick Type C research and cyclodextrin and help our small community bring a potentially life saving compound to market for kids like Addi and Cassi.

Since I already have an orphan drug application filed and approved with the FDA, having a priority review voucher system in place potentially makes Niemann Pick Type C an attract investment risk by Pharmas or BioTechs.

Priority reviews vouchers for pediatric rare diseases are a win-win for everyone! We need to rally the rare disease community to fight for the passing of S. 3697, Creating Hope Act 2010 bill.

Below are some key provisions of the S. 3697, Creating Hope Act 2010 bill:

  • Extension to pediatric rare diseases: This legislation includes rare pediatric disease within the scope of the program. This category encompasses any disease that is “rare” within the meaning of the Orphan Drug Act (affects less than 200,000 people, or the cost of development would exceed revenue) is recognized in the medical community as affecting a pediatric population and is a new drug that has not received FDA approval for an adult indication
  • Closing a loophole: This legislation would prevent companies from receiving a voucher for tropical disease products that they already market in other countries. This change will ensure that the program rewards only innovative treatments
  • Unlimited transferability of vouchers: A voucher may now be transferred unlimited times provided that the transferee, in each instance of transfer, notifies the FDA of the change in ownership. This change enables drug companies to maximize the value of the voucher in the marketplace
  • Optional upfront priority review designation process: Under the current law, sponsors do not know whether their new drug application will qualify for a voucher until the time of FDA approval. The proposed legislation permits sponsors of both tropical disease drugs and rare pediatric disease drugs to seek a designation that the new drug would qualify for a voucher, should it be approved, even before they submit their new drug application.
  • Adds Chagas disease to the list of neglected tropical diseases: Chagas disease is responsible for more deaths in Central and South America than every other parasite-borne disease, including malaria. Yet, despite its profound impact, research and development of new treatments is severely underfunded. The addition of Chagas to the list of eligible diseases fulfills the intent of the original authors.
  • Reporting and marketing requirements: The Creating Hope Act requires that the sponsor submit a statement of good faith intent to market the eligible drug, as well as a report describing the demand and distribution of the ultimate product.

August 4, 2010

"Postmortem: The CPK Incident" aka "Stop Your Boycott"

Bertrand says he is now cool with California Pizza Kitchen.
In celebration, his aunt Belinda styled him à la Jersey Shore.

Yesterday when I posted about our incident at California Pizza Kitchen, I didn't expect the response we got. The outpouring of love and support for Bertrand from everyone was amazing! We love you all in return. :) So many people called, emailed, tweeted, facebook-messaged and emailed us or CPK corporate about it.

CPK noticed.

Their corporate office apologized to Bertrand and our family, and they clarified that their no stroller policy doesn't cover such devices used for assistive mobility. Meaning: any assistive mobility device of Bertrand's is allowed. They "completely understand" why we would be upset.

We've accepted their apology and would like for everyone to move on. We never sanctioned a boycott of CPK and hope that those of you taking such action on our behalf will reconsider because their corporate charity (and the most ironic part of this fiasco) is the Starlight Children’s Foundation, an organization dedicated to improving the quality of life for children with chronic and life-threatening illnesses and life-altering injuries.

Also, in the interest of fairness, CPK's unwavering position was that since at one point at the very end of "the incident" we were offered a table outside in the bright sun and heat, we were not refused service. I disagree because I told the hostess that Bertrand was special needs and "he can't sit outside". Anyone who has a child with severe epilepsy--photosensitive at that--knows why Bertrand can't sit outside. We'd be having an ER visit rather than pizza for lunch. But, there you go, let it go on record that CPK says they didn't refuse us service.


The conversation with the CPK representative today reinforced that, as I briefly mentioned in yesterday's blog post, if I'd resorted to getting publicly upset and pressing the issue with the manager at the store, of course Bertrand would've been allowed to remain in his stroller and away from seizure triggers.

Now, I am not sure about anyone else, but would being forced to publicly explain to multiple strangers why your child is disabled and dying appeal to you? Could you keep your appetite? Would you feel like sitting and socializing after you've been forced to mentally relive the trauma of continuously struggling and failing to save your child's life?

Needless to say, nobody can "completely understand" our situation, no matter how well meaning. You'd think that after 2 years of struggling with Bertrand's condition I'd be able to "get over it", but I probably never will. Would you?

I feel like, after I've identified Bertrand as a special-needs/disabled child, I should just be able to say that "he can't sit in a highchair" or "he can't sit outside" and non-medical personnel should take me at my word. I shouldn't have to go into depth explaining the 700 plus pages of Bertrand's medical record to perfect stranger to justify anything. No other client is forced to do that, so why should I?

At Vienna Bistro, Bertrand has his own table and the staff loves him. The same goes at Einsteins (where he goes by the title "the cutest baby ever"), Melting Pot and The Metropolitan. I've never had to explain Bertrand's special needs at any of these restaurants, thereby retaining my appetite. Even though there are no hard feelings toward CPK, we'll be sticking to restaurants that don't require a painful explanation in order to be seated.

August 3, 2010

Kit-Based Cord Blood Program Gives Moms New Options for Donation

By Duke Medicine News and Communications

A new kit-based umbilical cord blood pilot donation program under way at Duke University Medical Center could significantly expand options for mothers who want to donate their baby’s cord blood to a public bank.

“Right now, there are fewer than 200 hospitals in the United States designated as collection sites for mothers who want to donate their baby’s cord blood to a public bank,” says Joanne Kurtzberg, MD, professor of pediatrics at Duke and director of the Carolinas Cord Blood Bank (CCBB), a public bank. “We simply need more. Cord blood cells are increasingly seen as a valuable resource, and we are seeing a pressing need for more cord blood donation, especially among Asian and African-American mothers and those with mixed ethnic backgrounds.”

Umbilical cord blood stem cells, normally discarded after birth, have the ability to grow and develop into various types of cells throughout the body. They can be harvested after birth and stored for future transplantation in patients with many types of cancer and blood disorders, and increasingly, in other diseases as well.

In addition to Duke, two other sites are participating in the program, the M.D. Anderson Cancer Center in Houston and the Texas Cord Blood Bank in San Antonio. All three sites are members of the National Cord Blood Inventory’s public banking network of the C.W. Bill Young Cell Transplantation Program and are coordinating their efforts through the National Marrow Donor Program (NMDP).

Donated cord blood will be listed on the NMDP’s Be The Match Registry and will be made available to patients with diseases that can be treated with transplantation.

“Research shows that many more mothers would donate their baby’s cord blood if given the opportunity,” says Michael Boo, chief strategy officer for the NMDP. “This pilot program may uncover a successful way to allow more expecting parents to donate, providing hope to more patients.”

Expectant mothers interested in donating cord blood through the program need to call one of the sites at least six weeks before their baby is due. Eligible donors must be 18 years old or older and be pregnant with a single baby. A coordinator will pre-screen applicants to see if they are eligible to become donors, asking questions about age and any history of HIV, cancer, hepatitis, malaria, organ or tissue transplant, sexually transmitted diseases, and tattoos and body piercing.

There is no charge to the mother for the kit or for donating her cord blood through the kit program.

Participants need to inform their physician or midwife of their intention to donate through the kit program. The physician or midwife must successfully complete an online training and certification in cord blood collection through the NMDP.

Participating moms will be sent a kit prior to their due date and will take the kit to the hospital upon admission for delivery. The doctor or midwife will collect the cord blood after the baby is born. The cord blood must be packed and shipped back to one of the three participating sites and must be received within 40 hours of the infant’s delivery.

The kit itself is specially designed to protect the cord blood in transit. Duke’s bright red box is temperature-controlled and contains an informed consent, a medical history questionnaire, and forms to be filled out at the hospital. It also contains everything needed for the cord blood collection, plus additional vials to store some of the mother’s blood that will be tested for infectious disease.

“We are enthusiastic about this program because if it successful, it could potentially be expanded to additional hospitals nationwide,” says Kurtzberg.

Kurtzberg, who is also director of Duke’s Pediatric Blood and Marrow Transplant Program, is internationally recognized for her trailblazing work in cord blood stem cell therapies. She provided care for the first person ever to receive a cord blood transplant and was the first in the world to perform an unrelated cord blood transplant.

Mothers interested in donating their baby’s cord blood to a participating public bank may contact the Carolinas Cord Blood Bank Public Kit Collection Program by calling 919-668-2071 (daytime only).

To reach the M.D. Anderson coordinator, call 713-563-8000.

To reach the Texas Cord Blood Bank coordinator, dial 800-292-5534; option 7.

For more information about public cord blood donation and the National Marrow Donor Program, visit or call 1-800-MARROW-2.

Hear Dr. Kurtzberg talk about cord blood and the kit program

Bertrand was refused service at California Pizza Kitchen.

Bertrand, his aunt Belinda and I went out for lunch but we were refused service at the California Pizza Kitchen (CPK) at the Gateway Mall. No, we weren't topless, smoking or trying to smuggle in a few dogs. They wouldn't seat us because they don't allow strollers. Any strollers. No exceptions. The hostesses said that strollers aren't allowed because of the fire hazard, but Bertrand's stroller is Maclaren Techno XLR and qualifies as an assistive mobility device. How do they treat people in wheelchairs? Do they turn them away too? (I am guessing they don't.) Bertrand's new wheelchair, which he has to get in order to start preschool this spring, will be even bigger than his stoller! Wouldn't that make an even bigger "fire hazard"? Why couldn't they just sit us at a wheelchair accessible table, which I presume they have?

[For those out-of-the-know, Bertrand is 2.5 years-old but can't sit unsupported, such as in a backless highchair, because of his movement disorder, seizures and level of ability (developmentally he is 0-4 months-old). On top of that he is immune-compromised due to his steroid medication, meaning he can't touch or sit in public items even if he did have the ability. ]

I should've demanded to speak with the manager, but I was in SHOCK. Besides, I shouldn't have needed to speak to a manager--shouldn't common sense prevail? How could they turn away a special needs 2 year-old?! It made me sick to my stomach.

I guess I am grateful that Bertrand isn't aware enough to realize how he was so coldly discriminated against, but I am aware and it breaks my heart.


Bertrand is a beautiful little boy. To the average person he doesn't look disabled, much less like someone with a limited life expectancy. No one can see his brain, liver and nerve damage accumulating.

I've observed a spectrum in the special needs parenting community. As Bertrand gets older, receives his wheelchair and his disabilities become more obvious, we are traveling from one end of the spectrum to the other.

On one end of the spectrum, there are parents of children with no visibly obvious disability (autism, ADHD, cancers, seizure disorders, some genetic disorders, etc.) with the desire for the public at large to acknowledge and accept their child's disability. On the other end, there are parents of children with an obvious disability (cerebral palsy, Downs syndrome, some genetic disorders, etc.) with the desire for the public at large to acknowledge but overlook their child's disabilities.

Both sides wish the public would make fewer assumptions about our children and our parenting. In the case where a child has no obvious disability, the abilities of the child are frequently overestimated (such as in Bertrand's case above: "just sit him in a highchair") and the skills of the parents are underestimated ("why can't you control your child?" or "why don't you just rock him to sleep?" Um, maybe he has NEUROPATHY?!). In the case where a child has an obvious disability, the abilities of the child are frequently underestimated ("we'll just treat him like a baby" and "let's address all questions to the parent rather than the child") and the skills of the parents can be overestimated (many such parents complain about the comparisons to saints and superheroes, or how people say "I could never do what you do!" Um, yes you would--if it was your child!).

I've gotten a little too complacent on the "no obvious disability" end. I just let the public assume Bertrand is a baby (not an almost 3 year-old toddler), smile and don't correct them when they make assumptions--even hurtful ones. I've been too worn out by the struggle to simply save Bertrand's life to go through the emotion and effort of a conflict. After all, how many countless struggles have I had with doctors, insurance, and even Bertrand himself (to keep him fed, medicated, happy and from losing anymore of his skill set)? Shouldn't I get a break?


Today, I should've fought. I should've fought for Bertrand and the other kids and people out there like him: with obvious or not-so-obvious disabilities. When Bertrand's disability gets highlighted by a wheelchair, it may save me a fight at CPK (not that we will ever go again), but what else will it bring? What confrontations will I need to prepare for--for his sake and my own sanity? Will we start fielding questions from random strangers? Will people find discouraging and dismissive ways to underestimate my child? Almost certainly. But from now on, will I confront the ignorance and demand respect for my child? Hell yes.

As discouraging as the whole CPK episode was, it was the kick in the pants I needed. I am back up, out of the corner and swinging for my child.

August 1, 2010

Bertrand's new sounds

Bertrand started making some new vocalizations a few days ago.

We captured some on video:

One of his more interesting sounds starts around 25 seconds in, and he does it a couple times after that. He loves making that noise!