Lymphoblastoid Cell Line

In Sanford-Burnham’s Conrad Prebys Center for Chemical Genomics, scientists use robots like this one to test hundreds of thousands of chemical compounds on lymphoblastoid cell lines in search of tomorrow’s new medicines.

We received word this morning that Bertrand's lymphoblastoid cell line (LCL) has finally been established at UCLA!

LCLs are used as a model system to study the genetics of gene expression, drug response, and other traits in a controlled laboratory setting.

With a somatic mutation rate of 0.3% and ease of cell maintenance, lymphoblastoid cells are still the preferred choice of storage for patients' genetic material.

In Bertrand's case, the LCL will be renewable source of his genetic material (no more blood draws!) so researchers around the world can study N-glycanase deficiency.

Bertrand's team of researchers will be able to use his LCL within the Conrad Prebys Center for Chemical Genomics to rapidly test thousands of existing FDA approved compounds to see if there is any drug already on the market that will increase his amount of N-glycanase expression or increase his rate of glycoprotein degredation.

Wow.  Welcome to the future.  :)  Happy thanksgiving!

9 Month Post-Infusion Report

Dear Dr. Kurtzberg,

It's been about 9 months since Bertrand's stem cell infusion. He is the happiest and most interactive he has ever been in his life! We don't know whether it's new medication (depakote), the stem cells or what, but, whatever the cause, we are extremely grateful.

Bertrand's most recent CMP on 5/27/11 had his ALT at 26 (normal range: 5-45) and AST at 63 (normal range: 20-60). This normalizing trend has continued in spite of increases in depakote. (His AFP is normal but his GGT is still elevated at 86, with a normal range of 4-15.)

In addition to his continued liver improvement, his smiles and his laughter, Bertrand has been re-learning skills and picking up new ones. He is learning to us eye gaze, as well as switches, to communicate his desires. He is vocalizing (I believe he has a word for Mama). He can raise his arms above his head for the first time, and he is again taking steps when supported or in a gait trainer.

He recently completed his first year of preschool and all of his teachers have remarked on the pronounced, positive changes they've seen in Bertrand since he started. We are very proud of him. :)

Warm regards,
Cristina Might

6 Month Post-Infusion Report

Bertrand thinks he's pretty cool in his sunglasses!

Hi Dr. K,

Bertrand is still doing really well. He can play with sensory bins, track objects perfectly, find/recognize faces, and keeps making progress on bearing weight and using his fingers. The most important change for us is that he is finally happy! He laughs and smiles every day!

Worth noting, in January Bertrand's liver function levels had drastically decreased. They are still elevated (AST 83 and ALT 98), but that's a long way down from being in the 600s! We're not sure if that's thanks to medication (actigall) or possibly stem cells but, whatever the case, we are pleased.

Thank you!

3 Month Post-Infusion Report

Starting early November, our family started to receive "gifts" that are possibly the courtesy of stem cells. This is the three month post-infusion report to Dr. Kurtzberg, who conducted Bertrand's autologous stem cell infusion at Duke University in late August 2010.

Hi Dr. Kurtzberg,

I've been putting off this email because I didn't want to "jinx" the small, positive changes Matthew, Bertrand's therapists, and I have seen in Bertrand. ;) Up to this point, there has been no change in his medication, therapy or other interventions (but he'll be starting a new AED next week because there has been an increase in seizures since his steroid wean). That said, here are some of the changes we've seen, starting early November.

• Improved eye contact
• More frequent vocalizations and greater range
• Less extraneous movement (he feels more stable and calm)
• Playing with new toys
• Opening hands more (not as fisted) and will brace himself
• Using fingers
• Posture is more relaxed, with shoulder forward and arms down
• Initiates trying to get up or change position
• Can abdominal crunch to get into sitting position
• Can wipe at his nose
• Things such as a stuffy nose now bother him
• Enjoys getting his hair brushed, being touched
• Engaging in more stiming behavior - teeth grinding, rubbing textures, playing with things

We don't know if these changes were natural, the result of the infusion, or what, but we are grateful for them. I've spent over 2 years working with Bertrand, every single day, on improving his sitting and having his shoulders forward, to then one day have him spontaneously start doing it on his own?! It is fantastic!

Thanks and happy holidays!
Cristina

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.

----------

***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!

Stem Cell Infusion Schedule!

Image from http://stemcellumbilicalcordblood.com/

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.

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 BeTheMatch.org or call 1-800-MARROW-2.

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

Stem cells reverse blindness caused by burns

As Bertrand awaits his cord blood stem cell infusion on August 24th at Duke University, here is a summary of another fascinating use of autologous stem cells published in the New England Journal of Medicine.

By ALICIA CHANG, AP Science Writer – Wed Jun 23, 7:29 pm ET

LOS ANGELES – Dozens of people who were blinded or otherwise suffered severe eye damage when they were splashed with caustic chemicals had their sight restored with transplants of their own stem cells — a stunning success for the burgeoning cell-therapy field, Italian researchers reported Wednesday.

The treatment worked completely in 82 of 107 eyes and partially in 14 others, with benefits lasting up to a decade so far. One man whose eyes were severely damaged more than 60 years ago now has near-normal vision.

"This is a roaring success," said ophthalmologist Dr. Ivan Schwab of the University of California, Davis, who had no role in the study — the longest and largest of its kind.
Stem cell transplants offer hope to the thousands of people worldwide every year who suffer chemical burns on their corneas from heavy-duty cleansers or other substances at work or at home.

The approach would not help people with damage to the optic nerve or macular degeneration, which involves the retina. Nor would it work in people who are completely blind in both eyes, because doctors need at least some healthy tissue that they can transplant.

In the study, published online by the New England Journal of Medicine, researchers took a small number of stem cells from a patient's healthy eye, multiplied them in the lab and placed them into the burned eye, where they were able to grow new corneal tissue to replace what had been damaged. Since the stem cells are from their own bodies, the patients do not need to take anti-rejection drugs.

Adult stem cells have been used for decades to cure blood cancers such as leukemia and diseases like sickle cell anemia. But fixing a problem like damaged eyes is a relatively new use. Researchers have been studying cell therapy for a host of other diseases, including diabetes and heart failure, with limited success.

Adult stem cells, which are found around the body, are different from embryonic stem cells, which come from human embryos and have stirred ethical concerns because removing the cells requires destroying the embryos.

Currently, people with eye burns can get an artificial cornea, a procedure that carries such complications as infection and glaucoma, or they can receive a transplant using stem cells from a cadaver, but that requires taking drugs to prevent rejection.

The Italian study involved 106 patients treated between 1998 and 2007. Most had extensive damage in one eye, and some had such limited vision that they could only sense light, count fingers or perceive hand motions. Many had been blind for years and had had unsuccessful operations to restore their vision.

The cells were taken from the limbus, the rim around the cornea, the clear window that covers the colored part of the eye. In a normal eye, stem cells in the limbus are like factories, churning out new cells to replace dead corneal cells. When an injury kills off the stem cells, scar tissue forms over the cornea, clouding vision and causing blindness.

In the Italian study, the doctors removed scar tissue over the cornea and glued the laboratory-grown stem cells over the injured eye. In cases where both eyes were damaged by burns, cells were taken from an unaffected part of the limbus.

Researchers followed the patients for an average of three years and some as long as a decade. More than three-quarters regained sight after the transplant. An additional 13 percent were considered a partial success. Though their vision improved, they still had some cloudiness in the cornea.

Patients with superficial damage were able to see within one to two months. Those with more extensive injuries took several months longer.

"They were incredibly happy. Some said it was a miracle," said one of the study leaders, Graziella Pellegrini of the University of Modena's Center for Regenerative Medicine in Italy. "It was not a miracle. It was simply a technique."

The study was partly funded by the Italian government.

Researchers in the United States have been testing a different way to use self-supplied stem cells, but that work is preliminary.

One of the successful transplants in the Italian study involved a man who had severe damage in both eyes as a result of a chemical burn in 1948. Doctors grafted stem cells from a small section of his left eye to both eyes. His vision is now close to normal.

In 2008, there were 2,850 work-related chemical burns to the eyes in the United States, according to the Bureau of Labor Statistics.

Schwab of UC Davis said stem cell transplants would not help those blinded by burns in both eyes because doctors need stem cells to do the procedure.

"I don't want to give the false hope that this will answer their prayers," he said.

Dr. Sophie Deng, a cornea expert at the UCLA's Jules Stein Eye Institute, said the biggest advantage was that the Italian doctors were able to expand the number of stem cells in the lab. This technique is less invasive than taking a large tissue sample from the eye and lowers the chance of an eye injury.

"The key is whether you can find a good stem cell population and expand it," she said.

___
Online:
New England Journal: http://www.nejm.org

What cord blood could potentially do for Bertrand.

Bertrand will be having his umbilical cord blood infused on August 24th at Duke University. This is a simple outpatient procedure--it is not a transplant. There is no rejection risk as it would be his own blood. The theory behind this procedure is that stem cells, such as those found in umbilical cord blood, automatically go to areas of insult/injury in the body. In the case of children with cerebral palsy (as shown in the video below), these stem cells can cross the blood brain barrier and potentially repair brain damage. In Bertrand's case there is a small chance the stem cells could repair some of his brain, liver and nerve damage. This video does a good job explaining why we have to at least try infusing Bertrand with his own banked cord blood. There is nothing at risk except money. Even if it doesn't work, the peace of mind that we've tried everything we could for Bertrand would be worth it.

Girl’s Own Cord Blood Used to Treat Her Brain Injury

Watch Now

UPDATE: And here is another miracle case from Duke's website.

ACTH here we come!

If our insurance approves it, Bertrand will be starting ACTH injections this week! This is exciting because if the injections work, they will work quickly. However, there is no telling how long the results would last (3-6 months? if at all?) or if he'll need oral steroids as a follow up. And, there are side effects. Bertrand will have irritability ('roid rage), gastrointestinal upset, cardiac/blood pressure concerns, elevated glucose, a suppressed immune system, and that's just in the short term. In the long term, there are bone density concerns as well. For the 4 week course of ACTH, Bertrand needs his blood pressure taken twice a day and he cannot go to daycare, preschool or be exposed to crowds. (Sadly, this includes his once a week "preschool" time at The Carmen B. Pingree Center.) The shots will, at least initially, be administered by a home nurse twice a day, and then Matthew and I will be trained. But if the ACTH works, all the effort will be worth it! I don't even want to think too much about it or get my hopes too high in case it doesn't work, but there is a small chance I may get to meet my son for the first time! What mother couldn't get excited about that?

Other major topics touched upon at the neurology appointment today included the results of Bertrand's SCN1A testing: negative. This was a genetic test for Dravet's syndrome--a devastating genetic epilepsy disorder. Unfortunately, I couldn't finish taking a sigh of relief before the neurologist brought up Unverricht-Lundborg Disease and Lafora Disease, two new potential diagnoses for Bertrand. ULD is chronic, debilitating and can cause death while Lafora is absolutely fatal. Both start as myoclonic epilepsy and both would explain Bertrand's elevated liver enzymes--and that's why a liver biopsy is back on the table. If they find inclusions in his liver, *bing bing bing* they may have a winner. While a diagnosis would help family planning, I really hope it is not either one. We'll revisit Lafora and ULD after ACTH.

A grab bag of other issues were discussed: the new rapid DNA sequencing facility (more on that later), Bertrand's last EEG (it was improved! there were periods with no spikes!), IVIG (another potential treatment which the neuro doesn't think would work in Bertrand's case), leukodystrophy (very heartening: his neuro thinks his epilepsy may be causing the white matter damage, not the other way around!), stem cells (she didn't laugh at us, which is a plus, but said there are several less expensive, insurance-covered options we can try first), medication (she wants to possibly add zonegran after the ACTH), orthotics (Bertrand needs braces/AFOs because his ankles are starting to lose flexibility), and the DSPD waiting list rejection (it is preposterous and she is writing a letter of diagnosis. The diagnosis? Doose Syndrome).

For now, Bertrand's next EEG has been scheduled for May 17th and we're waiting to hear back from the nurse within the next 2-3 days. In the interim, I will email a few parties "in the know" in regard to ACTH and the ketogenic diet. I am not fully comfortable with the information available to our group here about that. Fingers crossed, everyone!

Stem Cells: Response from Duke University

I received your emails about Bertrand and also had his MRI reviewed by the neuroradiologists at Duke. Unfortunately when they reviewed Bertrand's MRI, they didn't see any areas consistent with hypoxic injury. They also thought that the scan was a little worse as compared to the scan that Bertrand had at Duke. They were specifically concerned about the area in the Post Centrum Semiovale. They did comment that the quality of the scan was suboptimal. With this information, I don't see a reason to think that infusing Bertand's cord blood cells would help him. On the other hand, they wouldn't hurt him so we'd be willing to do it if you would like. Just let me know.

Matthew and I have some thinking to do.

Extracurricular Treatment for Epilepsy?

Now that Bertrand's arm is on the mend, he has been making some great strides. We believe that this is in large part due to his current treatments, chiefly:

• Ketogenic Diet
• Keppra
• Vitamin B6
• Branched Chain Amino Acids

However, while we've seen a great reduction in the number of seizures, Bertrand is not yet seizure free. While this may still be possible on our current course, it is not likely. Therefore, we're looking ahead for potential cutting-edge treatments. Here are a few:

• Hormones/Steroids: This group includes intravenous ACTH, Solu-medrol injections, and oral prednisone. As mentioned in prior posts, steroids in epilepsy work primarily by reducing inflammation in the brain. The respite provided by the steroids gives the brain an opportunity to heal. Unfortunately, in many cases, this effect is only temporary, and other measures such as oral steroids, AEDs or the ketogenic diet are needed as a follow-up to maintain seizure control.
  
• Intra-Venous Immune Globulin (IVIG): Gamma globulin is a class of antibodies that we all produce. Our body normally uses gamma globulin to bind viruses, bacteria, fungi as well as unusual proteins, toxins, etc. Once these irritants have been bound by the gamma globulin they are cleaned up and eliminated by other cells of the immune system. If there is a virus or an autoimmune antibody that attacks one’s own tissues, the IVIG can neutralize it if there are no other solutions present. IVIG also reduces immune system reactivity and inflammation present in the brain.
• Stem Cells: Even minute brain injury barely undetectable on an MRI can cause of epilepsy. Stem cells have a way of knowing how to go to areas of insult/injury to repair damage. In Bertrand's case, autologous (his own) cord blood stem cells could by transfused and given a shot at repairing his injured/lost white matter.
  
• Hyperbaric Oxygen Therapy (HBOT): In a study done in 2005 at the University of Pittsburgh it was determined that hyperbaric therapy causes the body to make 8 times as many stem cells as normal (this may explain why several brain related traumas respond to it). And, the oxidative stress of hyperbaric oxygen therapy reportedly improves tissue growth and vascularity.

Dr. Kurtzberg's Cord Blood Therapy on the News

One of Bertrand's doctors at Duke University, Joanne Kurtzberg, is a pioneer in stem cell therapies. Of particular interest to us, is her work with autologous (an individual's own) cord blood stem cells, which is showcased in the video below. Dr. Kurtzberg is both a world-class researcher AND human being. We hope that if Bertrand's brain damage is in fact due to an ischemic event rather than genetic metabolic process, he will be seeing her for treatment.

Watch CBS News Videos Online

Biopsy Scheduled & More

Bertrand's liver biopsy is scheduled for April 1st. Due to his movement issues, he'll get his blood drawn the day before. The day of at 11am, he'll have a liver ultrasound which will help determine where the biopsy should be taken. Then at 2pm, he'll have the needle biopsy and stay overnight for observation (to make sure there is no internal bleeding).

Dr. Book's office (gastroenterology) still will not schedule a follow-up appointment. I am frustrated, puzzled and a little bit angry at how they run things there.

We have an appointment this Thursday with Dr. Samson-Fang, Bertrand's pediatrician. She is eager to isolate which particular LSD Bertrand has. She'll be in touch with us again tomorrow.

With the last email I sent, I finished clearing my schedule of non-Bertrand obligations. Even other people's schedules are changing for Bertrand. My aunt Mimi was going to vacation in Vail, CO for a few days, but now she is now coming to us! This way she can see her favorite little man and Bertrand can finish his testing here in Salt Lake City.

Dr. Joanne Kurtzberg

A friend of my father's, Suzanne, introduced us to Dr. Joanne Kurtzberg at Duke University. She is already reviewing his medical records and prior MRI. A trip to North Carolina maybe in the near future. If anyone can help Bertrand, she can. The following is her biography from the Children's Miracle Network.

Dr. Joanne Kurtzberg’s career is a history of medical firsts. As program director for Pediatric Blood and Marrow Transplantation at Duke University Medical Center, she has been at the forefront of research and treatment for decades.

Dr. Kurtzberg pioneered the use of unrelated umbilical cord blood transplants for children with resistant cancers and rare metabolic diseases, and she personally performed the first unrelated cord blood transplant. Hundreds of children used to die each year awaiting a genetically matched adult bone marrow donor. Since cord blood does not have to be perfectly matched to be a successful source of stem cells for a child’s transplant, Dr. Kurtzberg’s work is changing that statistic dramatically. Dr. Kurtzberg and her team at Duke have performed more cord blood transplants than any other group, saving the lives of many children who otherwise had no hope for survival.

“Just within the last year we treated 12 newborns who had a disease that would have made them severely disabled by one to two years and then killed them,” says Dr. Kurtzberg, “and all those children are alive and walking, at normal schools and are able to have normal lives.”

Dr. Kurtzberg is also giving children with genetic disorders that were once a death sentence a reasonable chance for a healthy life. Her team specializes in treating rare inherited disorders that cause severe neurological damage and death. When children with these deadly diseases recieve transplants in time, the disease can be --and has been --stopped before it starts.

Dr. Kurtzberg is known worldwide as a pioneer in children’s healthcare. To her patients and their families, she is simply the doctor they can’t live without.

“All of the children I take care of come to us as a last hope, but they have incredible wills to live. I am inspired everyday by the families and the children themselves who I treat.”