A special needs mother's necklace

Last Monday at the Parent's Autism Conference at Carmen B. Pingree, there was a booth packed with all sorts of gear to advocate for autism. I couldn't help myself and I bought a water bottle, car magnet, window cling and a tiny, size 4T t-shirt with saying: "Kids with Autism Rock!"

This also got me thinking, while I am an advocate for many causes like autism, epilepsy and rare disease, what I really am is a mother-advocate for Bertrand Thomas Might--my beautiful, strong, charming, determined, warrior son. What I really wanted was something I could wear daily to make others aware of Bertrand's challenges and his indomitable spirit.

So, I contacted the kind and patient Shannon Schoon, proprietress of Peace of Mind Jewelry. She had created a special necklace for the Global Genes Project, an initiative to promote rare disease awareness, and she created the mother's necklace pictured above specifically for me.

• The spectrum of colored stones and puzzle piece charm profess autism awareness.
• The purple stone and ribbon charm profess epilepsy awareness.
• The blue stone (also B's birthstone) and the rare charm profess rare disease awareness.

Bertrand's name charm is the largest and stands alone because he is most important. Bertrand is not defined by his symptoms, but they are a part of him. I love Bertrand not in spite of them but because he is my son. And no matter what (and thanks to my lovely new conversation piece) I will continue to advocate for him and the other children out there facing similar challenges.

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.

Bertrand laughs... the sequel.

Today I sat in on Bertrand's class at his "preschool", the Carmen B. Pingree Center for Children with Autism. I left with such a full heart because the staff there treats Bertrand (and all their kids) with so much love and respect! As a result, they can and do work miracles. The video above showcases the simple joy of playing with a rainstick which we learned there today!

In class, B touched the pages of a book on his own initiative and throughout the day he laughed more times than I could count! I am so proud of my little man! It seems that he is finally turning the corner with his broken arm. Also, with the ketogenic diet ratio change 3 weeks ago and the addition of branched chain amino acids, is it possible that we're finally seeing the results?

A note on Bertrand

Bertrand is in a really delicate state between his healing arm, the ratio change, the branched-chain amino acids and the keppra dosage decrease. We've been trying to change only one thing at a time, but it takes so long to see the impacts of such things that we still can't be completely sure what's at play. While he has been having daily tonics (and his first tonic clonic), he seems more verbal and has much better eye contact. Today at musikgarten, two moms and the teacher all commented on how well he was doing in class. All three were so happy and impressed, saying, "he actually looked at me!" Overall, Bertrand is a lot more "here" and a lot less "gone". And that's a very good thing. :)

Wear Purple Tomorrow!

Purple Day is an international day to promote epilepsy awareness held on March 26th. Purple Day was started by a 9 year old girl in Canada named Cassidy Megan. Cassidy wanted to let other people with epilepsy, especially children, know that they are not alone. Our friends at Bookscoops are hosting a Purple Day challenge on their blog to join in Cassidy’s efforts to increase epilepsy awareness world wide. Here is what Cari, from Bookscoops, has to say about Purple Day.

Why is Bookscoops going Purple for Epilepsy?

My [Cari's] oldest daughter was diagnosed almost 5 months ago with epilepsy. She has Generalized Seizure Disorder and experiences Tonic-Clonic Seizures, formerly known as Grand Mal. This has been a painful journey as I have watched my daughter struggle with this disorder. She is very bright and full of potential. Epilepsy is only part of her as a human being as she loves to read, spend time with friends, swim and play violin. One of my biggest frustrations is the lack of information and misconceptions surrounding this disorder and particularly the lack of funding it receives. I feel that one of the best ways to help her deal with this is to raise awareness. Her life with epilepsy can be made easier and safer as more people know about this common disorder and learn how to respond with appropriate first aid.

Cari's daughter in purple.

In addition, we wanted to raise awareness about epilepsy because it is the second most common reason people see a neurologist behind migraine. Epilepsy affects 50 million people world wide and about 3 million people living in the United States have epilepsy. More people have this condition than multiple sclerosis, cerebral palsy, muscular dystrophy and Parkinson’s disease combined. Unfortunately, a lot of myths and false ideas are still being perpetuated about epilepsy (such as it is a mental condition or that epilepsy is contagious). Some of these misconceptions have caused many people to become isolated and live in fear and shame that someone will find out about their condition and many people have faced discrimination based on their medical diagnosis.

Who Can Participate and How to Participate?

There are number of ways to participate in our first annual Purple Day Challenge and because we love to promote literacy we are combining both reading and Purple Day starting on March 21st and ending on March 31st. While our blog focuses on children and adolescent literature we are inviting anyone to go purple!!!! So that means any person, book blogger or blogger who wants to promote Purple Day may participate. To make this easy on you (and us) choose any or all of the following.

1. Post the Purple Day Button on your blog starting on Sunday March 21st through Saturday March 27th and write a post promoting Purple Day. Please note we have received permission to use the Purple Day logo as part of this challenge. If you choose this option you must read and agree to the copyright notice on the Purple Day website by using the logo you are stating that you have read and agree to their terms of use. Two sizes of buttons are at the bottom of this post.
2. Read a book about epilepsy and post a review. For a list of books for children go to Epilepsy.Com.
3. Read a book by or about a famous person with epilepsy and post a review. Cari’s daughter’s favorite so far is The Day-Glo Brothers: The True Story Behind Bob and Joe Switzer’s Bright Ideas and Brand-New Colors, which also is a Cybils winner for 2009. Some names you might know are Harriet Tubman, Alfred Nobel and Charles Dickens and more recently actor Danny Glover, football player Alan Faneca and track star, Florence Griffin Joyner known as Flo Jo. For a more complete list visit The Epilepsy Foundation or if you’re a fan of Wikipedia see the List of Famous people with Epilepsy, which to be honest seems to be the best documented list we’ve found so far.
4. Read a book that promotes self-confidence and acceptance in children and post a review. Suggested books so far with a very appropriate title, Purplicious by Victoria Kann and Elizabeth Kann and Little Skink’s Tail by Janet Halfmann, illustrated by Laurie Allen Klein.
5. If you or a family has dealt with epilepsy write a post sharing your experience.
6. Wear purple on March 26th and tell people why you are wearing purple.
7. Click on the link to watch the 60 Minute Special on Epilepsy and write about what the things that you learned you in a blog post, or if you don’t have a blog put it in the comments for this post.
8. Have an idea not listed above submit it and we’ll give you another entry. Cari’s niece is making 600+ purple ribbons for her school. So if you think of something put a comment in the comments below.

For every entry we receive, Cari will donate 25¢ per entry for a total of fifty dollars to a non-profit organization that works towards epilepsy awareness and/or research and Holly will match Cari’s donation. Multiple entries are possible. One entry equals doing one of the seven items listed above.

Our Goals for this Challenge

Our goal is three-fold 1) to promote Purple Day and raise epilepsy awareness, 2) to dispel myths surrounding epilepsy and 3) to compile a more comprehensive list of books that portray epilepsy and/or people with epilepsy accurately, especially for children. Finally we do hope to raise some money for epilepsy awareness.

How to Enter and When Does it End?

Sign-up in the comments below telling us who you are and what you are planning on doing to participate. Make sure you leave a link to your blog. If you post about this challenge please leave us a link in the comments to your post and we will put together a list of everyone who participated with links to their blog posts as the week progresses. The Purple Day mini-challenge begins on March 21st and ends March 31st, midnight MST.

Rewards for this Challenge:

We would love to offer prizes, but at this point we don’t have anything to offer except the good feeling that you are helping other people become aware of a disorder that affects millions of people world wide. We might consider it for future years. However, remember Cari is willing to donate .25¢ up to a total of fifty dollars and Holly will match her donation to a non-profit organization that works towards epilepsy awareness and/or research for each person who commits to participate by doing any of the 8 options above. See above for details of how to enter and participate.

Non-profit Groups that promote Epilepsy Awareness, Education and Fund Research

Purple Day – Founded by nine-year old Cassidy Megan to promote global epilepsy awareness.

CURE Citizens United for Research in Epilepsy – raises money for epilepsy research.

Epilepsy Foundation an organization dedicated to advocacy, education and research.

Epilepsy Association of Utah – The group in Cari’s state dedicated to educating the public and supporting persons and their families with epilepsy.

Anita Kaufman Foundation – Dedicated to educating the public to not fear epilepsy.

Neurology Update

According to Bertrand's neurologist, "I would wait and reschedule it [the EEG] for 4 weeks out from when you increased the ketogenic diet to 4:1 ratio which I think was less than 2 weeks ago. I don't expect it to take effect that quickly. Also, we discussed him at an attending conference. The general feeling was to give the ketogenic diet a little more time and then consider ACTH. Problem with ACTH is that it is great short term but the myoclonus tends to recur less than 6 months from stopping so he may need to go on prednisone or dexamethasone for prolonged time. I am worried about his weight and the fracture, so want to give this time to heal before starting."

Wishing Uncle Booj well

Bertrand's been in Arizona to wish his Uncle Booj a safe tour of duty.

As Cristina mentioned a few days ago, my brother John (Bertrand's Uncle Booj) is deploying to Afghanistan for a year.

It's been a busy few days for all of us, with lots of fun family time.

Developmental evaluation: No progress (formally)

Bertrand's early intervention team met at our house this morning for his six month evaluation.

According to the E-LAP testing, between 15 months and 27 months, Bertrand has regressed across the board:

Gross motor development dropped from 7 months to 6 months.

Fine motor remained at 4 months.

Cognitive development dropped from 6 months to 4 months.

Language development dropped from 5 months to 4 months.

Self-help stayed at 0 months.

Social/emotional development dropped from 6 months to 3 months.

That said, everyone at the meeting agreed that the test wasn't able to measure the more fine-grained distinctions in Bertrand's case, and many of them believed that he has actually progressed socially and emotionally.

The formal evaluation fits in with the theories and laboratory evidence surrounding Bertrand's case--that he has a progressive, neurodegenerative disorder.

Genetics Breakthrough from the University of Utah

Sequencing the Genome of Family of Four Reveals Parents Give Kids Fewer Gene Mutations than was Thought

March 10, 2010 - Researchers at the University of Utah and other institutions have sequenced for the first time the entire genome of a family, enabling them to accurately estimate the average rate at which parents pass genetic mutations to their offspring and also identify precise locations where parental chromosomes exchange information that creates new combinations of genetic traits in their children.

Led by scientists at the Seattle-based Institute for Systems Biology, the study, published Thursday, March 11, 2010 in Science Express, sequenced the entire genome of a family of four-the parents, daughter, and son. By comparing the parents' DNA sequences to those of their children, the researchers estimated with a high degree of certainty that each parent passes 30 mutations-for a total of 60-to their offspring.

Scientists long had estimated that each parent passes 75 gene mutations to their children.

"That's the kind of power you get from looking at the whole genome," said Lynn B. Jorde, Ph.D., professor and chair of the Department of Human Genetics at the University of Utah School of Medicine. "The mutation rate was less than half of what we'd thought."

Genetic Clock

Most mutations, as far as medical researchers know, have no consequence for a child's health. But knowing the rate at which parents send on mutations to their offspring is critical information, according to Jorde. "The mutation rate is our clock, and every time it ticks we have a new genetic variant," he said. "We need to know how fast the clock ticks."

Everybody has about 22,000 genes, which contain the genetic blueprint for human life. This blueprint, called DNA, comprises more than 3 billion "base pairs" that determine genetic makeup. In1990, scientists worldwide began assembling the entire sequence of base pairs in all 22,000 human genes, a process called sequencing. When they completed the project in 2003, the scientists had put together the complete picture of the proper sequence of base pairs in the human genome.

When Jorde and the Science study's senior author, David J. Galas, Ph.D., of the Institute of Systems Biology, were discussing the idea of sequencing the genome of an entire family, they decided to look for one with known genetic disorders. A family of four turned out to be right for the study. Although the parents had no genetic abnormalities, they each carried recessive genes that resulted in their son and daughter being born with two extremely rare conditions - Miller's syndrome and Primary Ciliary Dyskinesia (PCD).

Miller's syndrome, a disorder characterized by facial and limb malformations, is thought to occur in perhaps one in 1 million people and has been diagnosed in only two families in the world, along with a few sporadic other cases.

PCD is a condition in which the tiny hair-like structures that are supposed to move mucus out of airways in the lungs do not function. The chances of having PCD are estimated at one in 10,000. The odds of someone having both PCD and Miller's syndrome are less than one in 10 billion, according to Jorde.

By comparing the variants in the children's DNA sequences with the Human Genome Project and other public databases, the researchers confirmed an earlier study that identified four candidate gene mutations for causing each disorder.

Gene Mutation Rate

Genetic mutations are passed to offspring when base pairs of DNA are altered in the genome. A Mountain View, Calif., company, Complete Genomics, used new, high-powered technology to sequence the genomes of each family member. Then, using the DNA sequence established by the Human Genome Project as a reference, Chad D. Huff, Ph.D., a post-doctoral fellow in Jorde's lab and co-first author on the study, compared the family's DNA base pair sequences to those established by the Human Genome Project.

"Comparing the family's sequences to the Human Genome Project allowed us to screen out potential errors in the DNA sequencing process," Jorde said. "To estimate the mutation rate, we compared the parents' sequences with those of their children. Differences in the sequences that were not caused by sequencing errors were caused by mutations."

From this, Huff estimated the number of gene mutations each parent gives their child. This rate probably will vary, according to Jorde, depending on how old the parents are, particularly the father, when they reproduce.

To find the locations where parental chromosomes exchange genetic information, which are called crossover sites, the researchers compared variations in the parents' DNA sequences to their children's, looking for blocks of DNA that the son and daughter inherited intact from the parents. When they found blocks that were interrupted, the researchers concluded they'd identified the crossover sites.

"We found that 60 percent of the crossovers take place in specific hotspots on the chromosomes," Jorde said. "We were able to locate these sites right down to the base pairs."

Future Studies

The study opens the door for numerous other investigations in the future. Jorde expects researchers will use family sequence analysis to begin narrowing down the genetic causes of more common diseases. And, as the cost of genome sequencing continues to drop-the Human Genome Project cost about $3 billion, and now individuals can get their genome sequenced for $5,000 to $10,000-it will be an important part of individual medical records, the researchers believe.

"We would predict that the information derived from family genomes, along with relevant environmental and medical information, will constitute the medical records of the future," the study concludes.

Along with the Institute for Systems Biology and the University of Utah, researchers in genetics and pediatrics from the University of Washington contributed to the study. Jared C. Roach, M.D., Ph.D., Gustavo Glusman, Ph.D., and Arian F.A. Smit, Ph.D., all of the Institute for Systems Biology, were the study's co-first authors along with the University of Utah's Chad D. Huff, Ph.D.

Utah Keto Get Together on March 27th!

Pretty much all anyone needs to know is that the keto cuties John, Cole and Bertrand will be in Holladay on March 27th. ;) All keto cuties young or old with their families, or anyone considering/wanting to learn more about the ketogenic diet for a child with epilepsy, are welcome! Just leave a comment on this post (be sure to include your email) and either John's mommy or I will send you an evite. Yippee! I can't wait! :)

Time Machine: March 2009

Below are two old posts, "Bad News" and "A Mother's Take", which sum up March 2009.

I've been feeling a little bit emotional and tired lately. I believe my subconscious has been ruminating on what was happening at this point last year--and the time in between. (That would exhaust anyone.) On one hand, we've come so far and ruled out so much. On the other hand, we still have no diagnosis and a long uphill slog still ahead.

Bertrand's continued disuse of his right arm and hand is starting to weigh on my soul a bit--what if permanently loses that skill too, like so many others before it? Then there are glimmers of hope, like Bertrand's new tears (right eye only) which started the day after increasing his ketogenic diet to a 4:1 ratio. We still have many avenues of treatment and research ahead of us, and we will keep fighting for every inch, every day for our son.

Bad news

Bertrand's oligosaccharide screen and then test came back positive, indicating a glycoprotein storage disease. Glycoprotein storage disease, or more generally, lysosomal storage disease, is actually a family of inherited (double recessive), genetic diseases. Any child Cristina and I have would have a 25% chance of acquiring this disease. We don't know which one he has yet, but the differences between them matter more to biochemists than to patients: all are progressive, largely untreatable, incurable and fatal.

In short, every cell in Bertrand's body (all 25 trillion or so) has a defective metabolism. As his cells metabolize, they are failing to fully recycle molecular waste, due to a missing enzyme. In this case, it's some kind of yet-to-be-determined sugar that he's not recycling. Over time, this waste accumulates in the cells and destroys them.

We don't know how long he has, but some searching indicates he may live to three years or just beyond. We'll know more once we complete the next round of tests, and once we finish consulting with the rest of his physicians. We are holding on to what little hope is left, but it seems that the window for miracles is about to close.

Of course, we will do everything possible for him. And, if that fails, we'll try the impossible.

A Mother's Take

The past few hours have tested my optimism. I can't even put into words what it feels like to hear that it's likely your child's life is more than half over--at only 14 months old.

I am in a dream that has morphed into a nightmare. I was given a beautiful, adorable baby boy--even when he was still inside of me I loved him more than I thought it was possible to love anything. And now, I have to watch him suffer and die? I can't believe it is true, yet. I won't.

"Ultra-orphan disease" is a four-letter word in my book. But... I am not going to dwell on it.

I am working toward clearing (or obliterating) my schedule. I had been trying to get out, work, make new friends, but screw new friends. I don't need them. Bertrand's my BFF. We'll be hanging out doing cool stuff together every day. :) Anyone who wants to tag along is welcome.

We're putting a baby bucket list together which B and I will attack. (I am taking suggestions for the list so please email me some!) Bertrand is going to have the best next ~21 months that any baby has ever had! He'll have more books, trips to the farm & zoo, horseback riding, maybe even some sailing! ;)

By the way, I don't care how well meaning, please don't mention us having another child. Not amnio, not adoption, not genetic counseling, not anything. Please don't mention it around me because I am not responsible for what I may do. I don't want another child. I want Bertrand. End of story. So, let's just not go there now. Thanks.

But, speaking of counseling, Matthew and I are going to start seeing a counselor two weeks from now. Counseling comes highly recommended from other parents of special needs children. Now, it seems like we may be facing both the needs of a special child AND his loss. We'll need all the help we can get.

Even expecting all this, we feel so lucky--so happy--to have Bertrand in our lives. We love him.

Family Links Conference: March 19-20

Every year the Utah Parent Center and various disability organizations and agencies host the Family Links Conferences. These conferences have been created to help parents of individuals with disabilities and special needs and are held in various locations around the state.

Orthopaedic Follow-up

Oh, how I wish I had taken a picture of Bertrand's follow-up x-ray today! However, when I saw it, I was too shocked to take one.

I was standing behind one x-ray technician at the computer while the technician with the lead vest positioned Bertrand for the photos. A giant bone-like cauliflower was taking up an entire half of Bertrand's upper arm! The tiny fracture was no where to be seen, but a giant mass was in it's place!? It was freakish--and I was deeply disturbed. And then, when they went to position Bertrand for a different angle, the computer tech said to the other, "be careful, there is a lot of pathology on that arm." WTF?!

Bertrand and I are in the exam room with the ortho resident, who hems, haws, and then admits that the x-rays didn't look normal to him and that Dr. Jones--the orthopaedic ONCOLOGY specialist--needs to take a longer look at them. (At this point I called Matthew because, with the direction the news seemed to be taking, I wasn't sure I'd be safe to drive home.)

Dr. Jones walks in with a big smile and says, "Bert, your arm is healing like gang busters!"

If I could've melted into a puddle on the floor from the relief, I would have.

Dr. Jones then explained that people with neurologic issues, such as seizures, cerebral palsey or even spinal cord injury, heal bones very differently than normal people. They tend to accumulate even more bone density than before the fracture. My dear son Bertrand was on the extreme end of even this spectrum, and appears to be creating some kind of super bone. He won't be breaking that sucker ever again. :) The giant cauliflower of bone should eventually smooth-out and become better intergrated with the rest of his humerus.

Bertrand's bone is so well healed, in fact, that he doesn't need another follow-up.

Relief. Relief. Relief.

Dr. Jones reiterated that Bertrand is cleared, from an orthopaedic standpoint, to go forward with steroid therapy for his seizures. Also, Bertrand was found to NOT have a leg discrepancy! Dr. J believes Bertrand's muscle--irregular tone--is to blame.

So, a pediatric chiropractor is looming in Bertrand's future! (Annie, you and Collin were right!)

What's Wrong With Eli? A Mother's Quest

An article (below) written by Amy Dockser Marcus on March 9, 2010 for the Wall Street Journal on how a two year-old boy's seizures and developmental delays have baffled doctors and complicated his treatment.

At age 2, Eli Jenkins doesn't talk, crawl or walk. He has trouble swallowing and cannot feed himself. He takes medication to control seizures.

No one is sure what is causing his problems. Geneticists, cardiologists, hematologists, allergists, immunologists, endocrinologists, neurologists and other specialists have examined Eli, but each has turned up nothing conclusive.

In mid-December, Janelle Jenkins and Eli flew from their home near Orlando, Fla., to Ohio—the latest stop in her quest for a diagnosis. Ms. Jenkins, 31, left her 5-year-old and 3-year-old sons at home with their father in order to take Eli to see doctors at the Cleveland Clinic.

"This is one of our last resorts," says Ms. Jenkins. "Some may say a diagnosis is just a 'name' and won't change anything ... so what's the point?" she says. "It matters to us for so many reasons."

Ms. Jenkins says she wants to be able to seek out therapies for Eli's condition instead of reacting to whatever medical crisis arises. She needs a name to know where to look. The family can't plan ahead because they have no sense of Eli's prognosis—his likely life span, his intellectual or physical potential, or the problems he will face. Also unsettling is not knowing whether the condition might turn up in the Jenkinses' older children later in life.

Researchers say the lack of a diagnosis affects far more people than was previously thought, although precise statistics don't exist.

The National Institutes of Health set up a special program in 2008 to help undiagnosed patients identify their illnesses. In a survey of people with rare diseases, 36% remained undiagnosed for one year or longer, and 1 in 7 patients remained undiagnosed for six years or more, according to the nonprofit National Organization for Rare Disorders.

The NIH estimates about 25 million Americans have rare diseases, defined as affecting fewer than 200,000 people.

A bill introduced in Congress last spring would establish the first-ever national registry of undiagnosed patients. And Internet forums are expanding resources for these patients. While checking one Web site, for instance, Ms. Jenkins found the name of a Cleveland Clinic medical geneticist who had spent seven years before finally reaching a diagnosis for one family. Trying to identify undiagnosed diseases is extremely difficult. Even at the NIH's program, which has so far studied the cases of 240 people, the success rate is only 10% to 15%, says William A. Gahl, who runs the program. "The norm is failure," he says. Some diseases are new and simply haven't been seen before, Dr. Gahl says. And, he says, "We don't even know all the variations of known diseases."

For the Bourhill family of East Rutherford, N.J., not having a diagnosis has made it difficult to figure out how to treat their daughter, Paige. David Bourhill says Paige, now 4½ years old, was born healthy and developed normally until the age of 10 months, when she came down with a fever and suffered a seizure. She still doesn't talk or walk. Her parents say they are uncertain of how much she understands.

Paige's doctors treat various symptoms as they arise, but it is sometimes challenging for the family to get reimbursed for medication. Mr. Bourhill says one fight he had with his insurance company was over intravenous immune-globulin treatment, often used for auto-immune diseases, that costs $4,000 a month. Since starting the treatments, Paige has been able to sit up on her own and seems livelier, Mr. Bourhill says. The insurer ultimately approved the therapy. Still, Mr. Bourhill estimates the family has so far spent about $40,000 of its own money on Paige's care.

For Ms. Jenkins, the hardest part of the past two years is coming to the realization that she may never have an answer to what is causing Eli's medical problems. The long, fruitless search for an answer, the testing and the trips, have all taken a toll. Insurance covers the doctors' visits and testing, but the travel and hotel stays add up.

Before Ms. Jenkins set out from home, the couple agreed that if this visit to the Cleveland Clinic yielded no definitive answer, their quest for a diagnosis might have to end. Instead, they would focus on reconciling themselves to caring for Eli without ever knowing what is wrong with him.

When Marvin Natowicz, the medical geneticist, met with Eli, he spent four hours giving the boy an exhaustive clinical evaluation. Dr. Natowicz says he looked for the tiniest clues. He felt Eli's hair, examined his toes, checked his vision. He measured the distance between Eli's eyes, the circumference of his head, and carefully studied the boy's fingernails and the whorls on his palms. Anything might send the doctor down a different diagnostic pathway. He asked Ms. Jenkins to send him baby pictures of herself and her husband at the same age as Eli.

Dr. Natowicz says that he lets families know that he will continue searching for a diagnosis for as long as they want. But there are reasons to consider stopping. The costs of tests can be prohibitive. Some are invasive, involving anesthesia, multiple blood draws or skin biopsies. When Dr. Natowicz meets with parents, he says he also urges them to consider the likelihood that, even if a diagnosis is ultimately found, the child's disease might not have a treatment.

A few weeks later, Dr. Natowicz issued an initial report. He felt that Eli likely had a genetic condition affecting his nervous system, but did not yet have a diagnosis. He wants to see the boy again at the clinic in July.

Ms. Jenkins says she will bring Eli back for a follow-up visit. But she says she is being realistic. "I understand there may never be a name," she says.

Another tear

Bertrand cried out for "meeehhhh meeehhh" and shed another tear this morning:



He looked very sincere later on:



And showed off his limb-length discrepancy this evening:

Tears of the Son

Bertrand seems to have a bug.

He's been having a lot of nasty tonic seizures today, and he's been refusing much of his food.

It's been difficult to comfort him, and he's wailed in pain a couple times.

Yet, there's a "positive" development to come of this: Bertrand cried tears for the first time. Ever. For the first time in two and a half years, we saw tears.

We tried to take some pictures, but they're hard to see on the camera. Look for the glistening streak down his eye.

Keppra: Love and Hate

Last Tuesday Bertrand had, by far, his best day in weeks. He was engaged, happy, smiling and giggly. Bertrand was finally able to sit back up on his own, play with a toy, and started to make wonderful new sounds--the most exciting of which was "our honey go". He was so energetic, in fact, he didn't nap all morning or afternoon. Regardless, I was so overjoyed at how well he had turned the corner... that was until I finally tried to put him down for a nap at 2:40PM. That was when I discovered that Bertrand's Keppra dose from the morning, was still sitting next to his bean bag, un-administered. Shocked, I gave Bertrand his missed dose--and I haven't seen that happy, chirpy baby ever since. :(

I am conflicted.

We had already, on our own initiative, slowly reduced Bertrand's Keppra from 400mg twice a day to 300mg twice a day with no corresponding increase in seizures. Taking the dose any lower, however, should probably be vetted by Bertrand's neurologist. Given prior conversations on this topic, the answer will be to increase the keppra, not to decrease it. But, at what point do we say that the attempted seizure control, at the expense of our child's happiness and personality is not worth it? After all, it's not clear to what degree the Keppra is controlling seizures versus the ketogenic diet.

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

Neurologist's Response

"Those are good points. I'd like to discuss this among my colleagues and present him at our conference the third week this month. I am wondering if ACTH, vs steroid, vs IVIG would be the best option to try after ketogenic diet. With IVIG, he wouldn't need to come off the diet. However, with ACTH or high dose prednisone, we would have to stop the diet (although, I am not sure about how long and how quickly we would be able to get him back on it). Give me some time to gather a little data and let's touch base in a few weeks, if you will. We may end up cancelling the EEG on 3/26, as I am not sure it will change management at that time."

25 Million+, It is time to care about rare disease.

Rare Disease made the final round for the 2010 Change.org Top Ideas Contest. This is great news and obviously a topic that is top of mind for many both in and outside of the rare disease community! This idea beat out hundreds of others to make the finals and now must reach the top 10 out of 60 final ideas.

The 10 most popular ideas will be presented to relevant members of the Obama Administration, and Change.org will subsequently mobilize its full community to support a series of grassroots campaigns to help turn each idea into reality.

Voting started Monday, March 1 at 1 p.m. EST and continues through Friday, March 12 at 5 p.m. EST. You can vote every single day, so it is important that you put this on your calendar to do every morning to ensure that this idea wins!!!

This is truly an amazing chance to make rare disease a health priority in the USA (and globally). There are more than 25 million people in the USA alone with rare disease with millions of family members touched by rare disease as well.

Please vote at www.change.org

You can vote every day through March 12 - ask family and friends to do the same!

Letter to Bertrand's Neurologist

Hi Neurologist,

When I spoke with Keto Nurse about Bertrand's labs last Thursday, she said she wasn't comfortable with Bertrand's liver values to raise his ratio to 4:1. However, Bertrand has had significantly higher liver values in the past--before the diet. And, he had low glucose because the lab took almost three hours to get someone from IV team to draw Bertrand's blood, so he was missing his afternoon snack. I don't like the sensation of treading water with Bertrand's treatment if there is *any* way in which we could be helping him. If we're still going with the EEG on March 26th, I would like your support to try the 4:1 diet beforehand. The urine strips we use to test Bertrand's ketones also test glucose, so I will closely monitor both.

That said, if we've gone as far as you think we can go with the diet (having to remain at a 3.5:1 ratio), we would like to try a steroid treatment. You know how nutty I am about researching all things with Bertrand. :) I've spoken with 5 different moms whose kids used steroids to treat MAE. The most popular arrangement seems to be a 5 day course of solu-medrol IV, followed with a prednisolone titer at home. (They've said that the body has to turn the prednisone into prednisolone by function of the liver, so prednisolone would work better for Bertrand.) After that, three of the kids went on the ketogenic diet for maintenance and to avoid going back on AEDs. One of the kids who did the treatment last year and didn't do keto afterward just had to go back in this week for a second round of solu-medrol.

In regard to steroids, speaking with both Bertrand's Pediatrician and Orthopaedist, Bertrand's bones don't seem to be a long-term concern. However, there is some additional blood work his Pediatrician recommended as a sanity check.

We understand that treatment has to balance many aspects of an individual's well-being. In Bertrand's case, we feel his cognitive development is crucial to his well-being, and as such, very much worth pursuing.

Thank you :)
Cristina & Matthew Might