February 28, 2010

World Rare Disease Day!

According to the National Institutes of Health (NIH), 1 in 10 Americans suffers from a Rare Disease — that’s 30 Million people in the US alone! Collectively, Rare Disease is not so Rare! Join our campaign to help raise awareness by downloading your jean ribbon today and spreading the word!

Here are some facts on Rare Disease that you may not know:

  • A Rare Disease is life-threatening or chronically debilitating disease which is of such low prevalence that special combined efforts are needed to address them, such as Myoclonic-Astatic Epilepsy (Doose Syndrome) and Gaucher’s Disease.
  • Approximately 7000 different Rare Diseases exist, with countless awaiting researchers to identify. Bertrand can't wait for a researcher to identify with him. ;)
  • Today, Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies.
  • Pharmaceutical companies have only developed treatments for 200 of the 7000 rare diseases.
  • Approximately 75% of Rare Diseases affect children (22.5 million in the US).
  • 50% of the identified Rare Diseases have no foundations, support groups or community support for the families

Let’s never give up Hope! It’s In our Genes!

Video produced by Chris Hempel, mom to twin girls affected with the rare disease Niemann-Pick Type C.

February 26, 2010

February 25, 2010

A Brief Update

  • Bertrand's pediatrician believes that there is a significant chance that his arm fracture may not be a result of his condition--just a normal toddler break. As such, steroids can be left on the table as a possible epilepsy treatment.
  • Bertrand's keto team is uncomfortable upping his ratio from 3.5:1 to 4:1 due to his recent lab results. Glucose in particular was a concern. B's neurologist will get back to us on how to proceed re: diet, EEG and steroids.
  • Bertrand's medical team will be having a pow wow in the near future with a focus on improving his physical and cognitive development and what trade offs need to be made (bone v. liver v. brain etc.). This would include his keto team, neurologist, pediatrician, geneticist, hepatologist, epileptologist and orthopaedist.
  • Bertrand is getting to be more like his mother every day. At physical therapy today it was discovered that he has her same limb length discrepancy (left leg is longer). His stander has been adjusted to compensate and in the future he will need a lift in his right shoe.

It's Almost World Rare Disease Day!

World Rare Disease Day is February 28.

In the United States, a disease is considered rare if it affects fewer than 200,000 Americans. According to statistics from the National Institute of Health (NIH), there are thought to be nearly 7,000 life-threatening and heavily debilitating conditions affecting nearly 30 million Americans (1 in 10 people or 10% of the population). Despite the infrequency of each rare disease, the total number of rare disease patients in the United States is equivalent to the total populations of New York and New Jersey combined.

In the European Union’s 27 member states, it is estimated that rare disease patients make up between 6% and 8% of the total EU population, or between 27 and 36 million people. This is equivalent to the total combined populations of the Netherlands, Belgium and Luxembourg.

Beyond the US and EU, few reliable rare disease statistics exist for other countries. Some alarming statistics that are currently available include:

  • More than half of the 30 million patients in the United States affected with rare disease are children
  • Approximately 15 million Americans have rare diseases for which there still is no approved treatments and no research in progress
  • Approximately 80% of rare diseases are attributed to genetic defects, many which are untreatable and life-threatening
  • In the 25 years since the Orphan Drug Act of 1983 was signed into federal law, the FDA has only approved approximately 350 treatments for all rare diseases combined

The Global Genes Project has been organized to accomplish the following goals:

  • Create greater awareness about the prevalence of rare disease globally and encourage international efforts to eradicate these disorders
  • Educate those within and outside the rare disease community about genetic factors leading to rare disease
  • Provide a unified platform for fundraising for individual rare disease organizations

“World Rare Disease Day is a crucial time for bringing attention to the needs of millions of people with rare diseases,” added Boice. “However, building rare disease awareness should not be confined to a single day. We are encouraging our supporters to organize a ‘Wear Jeans Day’ or fundraising event any day of the year.”

To join the thousands of people who are uniting to raise awareness for rare disease, visit www.globalgenesproject.org.

February 22, 2010

Carmen B. Pingree Training and the Scientific Method

Today, Cristina and I went to Carmen B. Pingree and had a training session while Bertrand was in preschool. (Bertrand did well again!)

I really enjoyed the training because it's grounded in the sound psychological and scientific principles. The Pingree approach aggressively adapts and tests methods shown to work in the research literature. The bulk of their approach is based on well-known techniques from operant conditioning. (They don't use the term operant conditioning, but that's what it was called when I took psychology.)

The high-level approach is straightforward: when a child does something good, you reinforce that behavior with a reward; when a child does something bad, you negatively reinforce that behavior to deter it. Honestly, it's not unlike training a dog. (Cristina and I trained our Chihuahuas to use litter boxes when we lived in an apartment.)

It's also important to emphasize that negative reinforcement need not be a painful punishment. With children--even autistic children--depriving a child of your attention is a much more effective negative reinforcement than something like a spanking. In fact, an instinctive reaction to misbehavior--yelling at the child--may positively reinforce them with precisely the attention they craved.

If you want to turn a behavior into a habit, then you use three phases of conditioning: (1) continuous reward, (2) fixed ratio reward and (3) variable ratio reward.

With continuous reward, if the child does something good, you reward immediately each time.

With fixed-ratio reward, you reward every nth action.

And, with variable-ratio reward, you reward every nth action on average.

Continuous reward makes it easy for the child to realize what a good behavior is. The ratio-based systems make the good behavior more difficult to "extinct." That is, if a child is trained only on continuous rewards, they'll stop doing the good behavior when the rewards stop. However, if a child is trained with ratio rewards, it takes longer for them to stop doing the good behavior in the absence of rewards. Research has shown that children (or animals) trained on variable ratio rewards take the longest to extinct their training when the reward is taken away. Over time, you can gradually increase the average ratio between rewards to strengthen the habit.

The other half of the Pingree approach is data. The Pingree staff collect data as meticulously as Cristina and I do. In some cases, they make a note of a child's behavior every 30 seconds. The goal of all this data collection is to allow an unbiased judgment of what really works for a child. They look for statistical trends in a child's progress associated with specific methods they've been using in the classroom. In this way, they can find out what works best for each child.

We know data collection is critical, because Cristina has data on every seizure Bertrand has had since entering the ketogenic diet. But she has more than that; she records every event of his life. She records the time of every event down to the minute; the amount and type of every food down to the milliliter; the calories by fat, protein and carbohydrate of each meal; the length of time and type of each activity (napping, in stander, reading etc.); the composition of each bowel movement; the amount of each medication taken; the type and duration of every seizure; his height and weight each day; and his ketone (and now glucose) levels with each urination.

Plotting data like this, clear trends emerge. First, the number of seizures have fallen from perhaps hundreds each day before the diet, to dozens after initiation, to no more than five on a bad day. We can also see strong clusters of seizure activity. Almost all of Bertrand's seizures now happen during feedings. Most of the rest are clustered around times when he's exhausted. The remaining few are scattered around stressful events like bumps, blood draws and bruises (and broken arms). Hardly any seizure occurs without a triggering event.

We're hopeful that the Pingree method and the decades of combined expertise on their staff will reveal what works and what doesn't when it comes to getting Bertrand to learn, to communicate and to interact. Stay tuned for the results!

Super Dad

As you can probably tell from our blog inactivity, the last few weeks have been unusually challenging for Bertrand (and me) due to his broken arm. Today was even tougher than usual, but fortunately for us, we had Super Dad on hand. Matthew really put his Family Medical Leave to work today! He started the day off by preparing Bertrand's keto meals ALL BY HIMSELF and then attending a 3-hour mandatory parent training session at the Carmen B. Pingree Center for Children with Autism (Bertrand's preschool)--during which he took notes. Then Matthew dealt with home repair issues--including buying a new water softener since the old one flooded our basement. After that we headed up to Primary Children's Medical Center (PCMC) where we all met with Bertrand's keto team. And Matthew topped the day off perfectly by "cooking dinner"! (Read: "bought McDonalds". Hey! It still counts!)

Anywho, Bertrand is capable of having at most 3 "seizure free" days in a row at a 3.5:1 ketogenic ratio. This is a fantastic improvement, but we'd like to see him completely seizure free if possible. If the labs which were ordered today look good, then we can go forward with a 4:1 ratio for the next month and see how his EEG looks on March 26th. From there we will know if we have to stop the diet temporarily to try the so-called "beast killer", ACTH. (You may remember hearing about ACTH earlier on our blog as the treatment for Allgrove Syndrome.) However, resorting to ACTH, or even a lesser steroid like prednisone, has been compromised by Bertrand's recent arm break. Steroids weaken bones, (one of our neuro's patients on just prednisone fractured 4 vertabrae) which is not good when bones are already weak. We'll be consulting with B's orthopaedic surgeon regarding the steroid option.

Bottom line: lab tests and blood draws will continue to be an important part of Bertrand's life for a long time to come. So, at the lab this afternoon, Bertrand needed 25 mL of blood drawn and after 4 pokes he had ZERO mL of blood to show for it. We have to return tomorrow afternoon and hope the poor little guy has better luck. Labs that are being drawn include: SCN1A (gene test, results in 6-8 weeks), Iron, (due to restless leg), Vitamin D, Selenium (both due to the ketogenic diet) and Bertrand's usual comprehensive metabolic panel.

February 16, 2010

Discovering the Unseen Risks of Genetic Diseases

A fantastic article (below) written by Amy Dockser Marcus on February 14, 2010 for the Wall Street Journal on how the carriers of genes for diseases, including rare ones such as Gaucher's Disease, can be severely affected.

When people learn they are carriers for a genetic disease, doctors usually focus on the potential risk of having a child with the disorder. But, increasingly, researchers are finding that being a carrier itself can lead to serious health problems.

Carriers of Gaucher disease, for example, don't have the enzyme-deficiency disorder that can cause lung disease, anemia and arthritis. They do, though, have a risk of developing Parkinson's disease that is more than five times greater than the general public, according to a recent study in the New England Journal of Medicine. Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma. And carriers for fragile X syndrome, the most common cause of inherited autism and other mental impairment, are at higher risk for a variety of illnesses, including premature ovarian failure in women, depression and anxiety, and late onset neurological problems.

Photo by Sandy Huffaker for The Wall Street Journal.

Grace Klein (left), 13, has Gaucher disease. Her parents, Kenneth Klein and Lisa Black, are carriers and may face their own health risks.

Until now, the assumption was that carriers needed to only be concerned about reproductive issues and the risks of children inheriting a disease that doesn't manifest itself in their parents. In fact, people often first learn they are carriers if they do a genetic blood test when trying to get pregnant. Although genetic diseases are rare, "we've got millions of people out there who are carriers," says R. Rodney Howell, chairman of the federal Advisory Committee on Heritable Disorders in Newborns and Children.

Now, a growing body of scientific research is focusing on carriers and the possible health complications they may face.

Carriers for some inherited diseases can take precautions. There is some medical evidence, for example, that carriers for sickle-cell disease, an inherited blood disorder, can have more problems associated with heavy exercise than non-carriers, although medical experts say the number of carriers affected is small.

The National Collegiate Athletic Association's Sports Medicine Handbook recommends that athletes who are sickle-cell carriers be given adequate rest time between repetition of drills and be excused from performance tests such as serial sprints or timed mile runs.

In June, the NCAA also asked member colleges and universities to test all student athletes to determine if they are carriers for the disease.

The move was part of a settlement of a lawsuit filed by the family of Dale Lloyd II, a football player and student at Rice University who collapsed on the field during a 2006 practice and died the next day. A medical examiner determined that Mr. Lloyd died of acute rhabdomyolysis, which causes a rapid breakdown of muscle tissue.

"Testing indicated [Mr. Lloyd's] status as a carrier of the sickle-cell trait contributed to his death," the NCAA said in a press release.

The studies done so far have looked at relatively small groups of patients in specific diseases and can't yet be applied broadly. "No one doubts that being a carrier comes with a reproductive risk, but we aren't certain what it means for our own personal health. We need to review the evidence disease by disease," says Michael S. Watson, executive director of the American College of Medical Genetics, a professional organization. In most cases, finding out you are a carrier "doesn't change anything," he says.

Kenneth Klein and Lisa Black learned that they were carriers for Gaucher disease 13 years ago, after their daughter was born with the disorder. They didn't have concerns about their own health until Mr. Klein heard about the New England Journal of Medicine study linking being a carrier for Gaucher to Parkinson's disease. Eager to learn of any preventive steps he could take against Parkinson's, Mr. Klein contacted the study authors—but he was told that currently there was no way to act on the information.

Photo by Ariel Zambelich for the Wall Street Journal.

Carrie Rose (right) says she has health problems related to her status as a carrier for fragile X syndrome. Her son, Nick (left), and uncle, Lloyd Darwin, have the disorder.

Mr. Klein, a 50-year-old law professor in San Diego, was worried, especially because his wife's father had died from complications related to Parkinson's. The study, which involved about 5,700 Parkinson's patients and some 4,900 control subjects, also found that Parkinson's patients who are Gaucher disease carriers developed symptoms of Parkinson's much earlier than non-carriers.

Being a carrier for Gaucher is the most significant risk factor found so far for Parkinson's disease, says the study's principal investigator, Ellen Sidransky, chief of the Section on Molecular Neurogenetics at the National Human Genome Research Institute.

In the case of fragile X syndrome, the condition is normally passed to a child through the mother. But carrier status can be passed through either parent. A father who is a carrier will always pass the carrier status to a daughter. Estimates of the number of carriers in the general population range from about one in 130 to 260 females, and about one in 250 to 810 males.

Randi Hagerman, medical director of the M.I.N.D. Institute at the University of California, Davis, sees a lot of children with fragile X syndrome in her clinic. She noticed that a number of the mothers were talking about how their fathers were having aging problems, including tremors, cognitive decline, and falling episodes.

At a 2000 conference sponsored by the National Fragile X Foundation, an educational and advocacy group, Dr. Hagerman gave a presentation on five cases of older men she had studied and raised the issue that their neurodegenerative problems were connected to their carrier status.

"I thought it was rare," Dr. Hagerman says. But at the end of her talk, when she asked how many families had grandfathers who were carriers and exhibited similar symptoms, "a third of the room raised their hands." Dr. Hagerman and colleagues named the problem fragile X associated tremor, ataxia syndrome, or FXTAS, in a 2003 paper published in the American Journal of Human Genetics.

Studies by Dr. Hagerman and her colleagues as well as other research groups have linked being a carrier for fragile X syndrome to heightened risk for some other health problems, including hypertension, fibromyalgia and thyroid disease.

Carrie Rose, 52, of Mountain View, Calif., says that after her son was diagnosed in 1999 at age 13 with fragile X syndrome at Dr. Hagerman's clinic, she had everyone in the family tested. Ms. Rose and her father turned out both to be carriers. Ms. Rose says she has suffered from depression and anxiety and developed hypertension in the last five years, all issues shown possibly to be linked to carrier status.

In 2000, Ms. Rose's father, who had been suffering from tremors and difficulties walking, was the first person Dr. Hagerman diagnosed as having the condition eventually named FXTAS. He died from the disease in 2005. Ms. Rose says her daughter, 27, also has fragile X syndrome and has suffered anxiety and depression.

Ms. Rose says her own carrier status has helped explain "a lifetime of why I feel so much anxiety. I am easier on myself now because I know there is a reason for it." But she also thinks about her father's long, progressive deterioration that was connected to his status as a carrier. "There is a part of me that asks, 'Could that happen to me?' " she says.


February 14, 2010

A Valentines Surprise!

Bertrand was instrumental in throwing our wonderful neighbor Cathy a surprise 60th birthday party today! I called Cathy, who is a nurse, over to our house under the premise of Bertrand's broken arm having gotten worse--fantastic acting on B's part, but in reality his arm is doing great. (She was over in under 15 seconds. It just about gave Cathy a heart attack.) Boy, was she surprised when about 30 family and friends started singing happy birthday from our dining room! It was a great party! We love you, Cathy! Happy 60th!
Cathy's 60th Surprise
Click on the album image above to see photos of the party!

February 9, 2010

How did Bertrand break his arm?

We've been getting that question a lot.

I wish we had an answer. At the moment, all we have are hypotheses.

For starters, we don't even know for sure when the break happened. Our best guess is that it happened with the spill he took out of his stander on Saturday morning. But, that spill was nothing compared with the kinds of spills "normal" kids have all the time. He's certainly had a couple harder falls than that. Moreover, he fell straight back (not on his arm) and there were no bumps, bruises, swelling or even redness. Even now, there are no external signs of trauma or injury.

With Bertrand, the only way to tell that he's injured is that he's more upset than normal. He already hates having his arms touched, so it probably took us a while to realize something was wrong. We started to notice increased seizures and abnormal sensitivity to his right arm Sunday night. He normally doesn't cry while changing clothes, but Sunday night, he did. Before that, we can't recall any signs.

At the moment, a bone lesion or cyst is the best candidate to explain how the break happened. Both are common in rapidly growing children or young adults on the long bones of the arms and legs--the top of the humerus is perhaps the most common location. The ER doc explained that bone lesions weaken bone strength, and make fractures much easier. In the worst case, it is possible that Bertrand is developing bone lesions as a result of his condition. The ketogenic diet can also deplete calcium and vitamin D, which makes bones more brittle, however it does not cause bone lesions. So far, his labs show no problems with either calcium or vitamin D.

Bertrand has also had more tonic seizures than normal since last Thursday. It is conceivable that a particularly strong tonic seizure could break a bone weakened by a cyst or lesion.

The fracture also hit his growth plate, but not severely enough to affect growth, according to the docs.

It's been unnerving for us to think that we may have let poor little Bertrand suffer, and it's really disturbing that we don't know how this happened. We are worried that if was a combination of tonic seizures and bone lesions, this could be the first break of more to come.

In the mean time, Bertrand won't be doing any physical or occupational therapy for two weeks, since much of it now revolves around getting him to use his arms properly. We'll shift the focus to cognitive and speech tasks instead.

Tomorrow, he's seeing the bone lesion specialist to investigate the bone lesion/cyst problem more thoroughly, and we'll report back what we learn.

Thank you to everyone for your expressions of love and support!

February 8, 2010

A broken arm

Last night, Cristina and I noticed that Bertrand was unusually grouchy about changing clothes, and slightly grouchier over all. We thought it could be the recent changes with diet and medication. Similar grouchiness had followed prior changes in diet, so we assumed this was no different.

Changing him this morning, he seemed extra grouchy about having his right arm touched. At school, he refused to play with his favorite spinning toy. We both thought it was strange that he let his right arm sink into the bean bag, instead of pulling it into his chest like usual. But, he wasn't upset about it. In fact, he was flirting away with his teacher and enjoying his books.

When we picked him up, we again noticed (extra) sensitivity in his right arm. At home, we saw he wasn't moving his right arm at all. We sought expert medical opinions, tried a few things, observed him for about 10 minutes, and then made the decision to go to the ER. (Luckily, our good friend Jimi Malcolm was with us, and he consulted his dad, an orthopedic surgeon, for advice.) We feared a dislocated shoulder.

They x-rayed him in the ER, and to our shock, Bertrand had a break in his humerus at the shoulder. We're still not sure exactly how this happened. He took a spill when a snap broke loose on his stander on Saturday, but he didn't fall with enough force to cause such as injury.

The ER told us that Bertrand also appears to have a bone cyst at the site of the break. If true (and we'll confirm with the fracture clinic soon), then the cyst may have weakened the bone, so that it could break under "normal" behavior, or perhaps during an intense tonic seizure.

Whatever caused the break, Bertrand has been bandanged into a sling for the next four weeks. He seems to be in less pain already, though he doesn't seem thrilled about having his movement constricted.

Bone problems come with some metabolic disorders, so we're going to pursue the bone cyst issue vigorously, in the hope that we can prevent future breaks. We have complete skeletal surveys of Bertrand, and we'll be scrutinizing those for early signs of bone cysts. This might be the clue that cracks Bertrand's case.

In the mean time, you'll see Bertrand bandaged up for at least the next four weeks, and his already paranoid parents just got a notch more frantic.

First day of school pictures!

Bertrand did amazingly well for his first day of pre-school at the Carmen B. Pingree center!

On the "school bus."

Not quite ready to start school.

Bertrand's locker.

Little Nemo backpack.

Exhausted after a long and successful (3-hour) day at school.

February 7, 2010

Guest Review: "Seized"

Bertrand's grandma Diane reviewed the book Seized by Eve La Plante. Please enjoy!

What might Van Gough, Dostoevsky, Flaubert, Lewis Carroll, Poe, St. Paul, Muhammad, Moses and many more have in common? Analysis of historical data by author Eve La Plante in “Seized” reveals all potentially suffered from a type of epilepsy called Temporal Lobe Epilepsy (TLE). La Plante takes the reader into the world of TLE partial seizures and their effect on the lives of both the extraordinary and the ordinary. This book is recommended as a good first read before further research into epilepsy.

TLE affects over 1 million Americans. The reader becomes sensitized to those with this disorder and how lack of knowledge creates inappropriate prejudice and discrimination against epileptics. Tragically the word epileptic often carries such stigma that many doctors initially refer to their patient’s condition as “seizures” only.

In between seizures key TLE symptoms may include hypergraphia (arts/writing), hyperreligiosity, stickiness (dependency on certain people), aggression, and/or altered sexuality. It is believed that TLE causes ordinary traits to be intensively muted or enhanced due to an “underlying brain scar which causes hyperconnectivity”. An over abundance of rapid connections in the emotional part of the brain cause hypersensitivity to environment much like a spigot that can’t be turned off.

The medical history of epilepsy is summarized with focus on important contributors to the field. Past barbaric treatments as well as current and future treatments are discussed. Although brain anatomy and function are reviewed, the reader is left with a desire to learn more as well as research the reasons for abnormal neuronal firing and the various types of epilepsy.

Since there is an organic basis for many mental conditions, the inevitable merging of psychiatry and neurology is addressed. Intriguing age old questions are posed such as “What is a thought?” and “Are mind and body dual in nature?” In addition, the concept in our society that everyone has the free will to control his/her actions is thrown into question. In closing, as a fun exercise before reading, draw the face of a clock at 10 after 11 and see how your clock compares to that of someone with TLE.

February 6, 2010

Location, location, location

When we bought our house over a year ago, our main consideration was proximity to the University of Utah. Matthew wanted to be able to walk into work every day--rain, snow or shine. Theoretically, it would also allow for more family time and less commute time. Little did we know this choice would also save hours of my life. Our location is absolutely central to all of Bertrand's appointment locations! Exactly 4 minutes from each: Carmen B. Pingree School, Shriner's, Primary Children's and University Hospitals. We got sooooo lucky!

View Bertrand's Medical Access in a larger map

February 4, 2010

Photos from the Capitol

These are photos from Bertrand's excursion to the Utah State Capitol yesterday. He enjoyed the grounds and the free Capitol museum quite a bit. As you can see at the very bottom, he even tried his hand at lobbying with the world's nicest state fiscal analyst. :) No one can say we didn't try our hardest to fight for the special needs babies of Utah!

February 3, 2010

A testimony on behalf of Early Intervention

On Friday, March 6, 2009 our family’s world fell apart. We received notice from our medical team at the University of Utah that our beautiful baby boy had a 24 month life expectancy. And, 14 of those months were already up. It was every parents’ nightmare.

We had suspected something was wrong with our son, Bertrand, since birth. Doctors finally agreed by the time he was 6 months, and by 9 months he’d lost most of his milestones. This was when we were referred to Baby Watch Early Intervention. The goals set for Bertrand on paper involved meeting new milestones (such as sitting unassisted) and reviving old ones (such as using hands). At the time, I thought this was the extent of Early Intervention. I couldn’t have been more delighted to be wrong.

Over the proceeding months, Bertrand’s Early Intervention therapists, Kirsten Aalberg and Meghan Boyd (our angels), fought to keep his skills from slipping but, just as important, they taught me: how to be a better mother to a special needs child, how to be his advocate working within various systems and how to stay hopeful. Staying hopeful proved difficult as we traveled and consulted with medical teams at Duke, UNC, Baylor, Johns Hopkins, and even an entire section at the National Institutes of Health. Our son, we learned, was unique--rare disease unique.

Through this I learned that modern medicine and even a mother’s love is not enough. Our family relied on Kirsten and Meghan to keep pushing us forward in the face of overwhelming odds. They hugged us as we went off to seek second opinions, comforted us as we received bad news, and cried tears of joy as Bertrand beat the odds. Their experience and faith in our child’s ability, flying in the face of his grim prognoses, and our son’s resulting development has defied medical science.

On Friday, January 22, 2010, at 25 months-old (a month past his predicted expiration date) Bertrand laughed for the first time. He is thriving. He is trying to speak and learning to read. He will someday soon walk. He’ll be able to go to school. Doctors are baffled in the best possible way. Bertrand’s white matter loss appears stopped and, while he still has a long way to go developmentally, something I’d long given up hope for appears possible: he has a shot at a normal life.

All children deserve a chance for happiness and a chance for a bright future. Early Intervention makes this possible and helps all of us by:
  • Giving children life skills early on. An ounce of prevention is worth a pound of cure, and this couldn’t be more true than with a child’s development, which is exponential over time.
  • Giving caregivers skills and courage to interact positively with their children, spouses, doctors, the school system and the community at large.
  • Giving the community an opportunity to develop contributing members of society, who might other wise be lost, all the while doing the right thing for the youngest and most helpless among us.
In these tough economic times, as Wall Street has shown, it is easy to be shortsighted and look for the quick fix. But, cutting programs such as Early Intervention would be shortchanging Utah’s future. Thank you for giving Bertrand a chance at a normal, happy life. Our current crop of youngest, most helpless Utahans deserve the same opportunity.

The written testimony above was delivered today in person by Bertrand and his Mama to the members of the Joint Health and Human Services Appropriation Subcommittee at the Utah State Capitol. Bertrand hated the politics and the waiting, but loved the Capitol museum, fountains and buildings.

February 1, 2010

Happenings in Casa Might

Today, Mr. Wang, our first "baby", turned 7 years old! How fast time flies.

In addition, to celebrating Mr. Wang's birthday dinner with steak, today was a fun day of physical therapy, training with the staff at Carmen B. Pingree and going craft shopping with our friends Lynn and Kevin! Look at the great rare disease awareness ribbons Lynn made for us!

Why do we need these ribbons? To wear them on Wednesday when Bertrand goes to testify before the Utah State House of Representatives in regard to the state's Early Intervention program. Five families were selected to testify. It is an honor we hope to do justice to. Hopefully, Bertrand's amazing cuteness will convince legislators to keep from cutting the program's budget!