July 20, 2009

Interesting Progress

Today at play group, I was playing with Bertrand's best friend Kevin, and I made the mistake of picking Kevin up in Bertrand's line of sight! Oh my! Did I ever get the most heartbroken, "you hurt my feelings" wail from Bertrand! B immediately calmed down once I picked him up and gave him a hug, and I couldn't have been happier! My baby finally got jealous! I think this is a milestone. :)

In other news, I mentioned the possible Schinzel-Geidion and Rett diagnoses to Laura, B's speech pathologist. She had never heard of SGS, but works with several girls with Rett syndrome. She was shocked at first, since Retts tends to be female only, but then commented on how Bertrand's movements are identical to her patients'. Laura is now just as curious as I am about Bertrand's MECP2 (the Rett gene) testing!

July 17, 2009

What are the NIH results?

To be clear, Bertrand's blood was drawn at the NIH and they're running tests to try to confirm or deny both the Schinzel-Geidion and Retts Syndrome suspicions. We'll know those test results within 3-4 weeks. Earlier than that, however, we'll be receiving a report (2-3 weeks) and photographs (1-2 weeks) of Bertrand. The report will contain the opinions of Drs. Stratakis, Raygada and Rennert and their recommendations, including conducting a 24 hour EEG and prescribing anti-seizure medication. The medical photography of Bertrand should be cute (his face, profile, hands, feet, etc.) so I can put it on the blog once I get it.

July 16, 2009

NIH Trip Photos

While we were at the NIH, Bertrand and I met Carrie, Robert and Hannah! Hannah, Bertrand's online girlfriend, will be turning one in a few days! We pre-celebrated at the Children's Inn.

Bertrand and Hannah, both playing hard to get. Hannah is quite the girly, girl and a flirt! She charms everyone she meets--surprisingly, even Bertrand.

Here Hannah is playing with the toy Bertrand gave her for her birthday. The day before Bertrand kept snatching it back and whacking her with it. "Gracious" would not describe my son.

At the airport, Bertrand wearing the scrubs he got at the NIH. They say "Doctor In Training. National Institutes of Health." Setting the bar high? Not at all.

Lastly, Bertrand staring off into space, chewing cud, planning to take over the world. (We now know his repetitive motion here is called "hand washing" and "hand wringing" and that the chewing, teeth grinding and staring off into space is most likely seizure activity associated with something like Rett Syndrome.)

Schinzel-Geidion Syndrome OR Male Rett Syndrome: Take Two

Sorry for my cryptic last post. I was trying to write from my mobile phone and, for some unknown technical reason, the message content of the post was lost. Below is what was lost.

At the NIH we met with doctors Stratakis, Rennert and Raygada (and about 16 of their students), who are all associated with the genomics section. After a throrough evaluation of Bertrand and his records, they believe he has either Schinzel-Geidion Syndrome or Male Rett Syndrome. I disagree.

Symptomatically, Bertrand is best matched by Male Rett Syndrome. However, this is highly unlikely since he has a normal XY chromosome. Rett Syndrome is a female disease--so most male patients have an abnormal XX chromosome. Furthermore, Bertrand is alive. Male Rett patients typically die in utero or shortly after birth. They would rarely live past two.

Schinzel-Geidion Syndrome is a terminal neurodegenerative disease in which patients also typically do not live past age two. Again, Bertrand is still alive and stable. Furthermore, despite being told by the NIH that Bertrand has midface retraction and that his features appear coarse, I believe that he simply looks like me. :) You be the judge. Does this look like Bertrand?

Frontal view of an infant with Schinzel-Giedion midface retraction Syndrome. Lateral views of an infant with Schinzel-Giedion midface retraction Syndrome.

July 12, 2009

Dr. Owen Rennert

One of the doctors Bertrand will be seeing on Tuesday at the NIH is Owen M. Rennert, M.D., and I couldn't be more excited. Dr. Rennert has served as the scientific director, in the NICHD Division of Intramural Research, since November 2000, and he leads both the Laboratory of Clinical Genomics and the Section on Developmental Genomics. He has also served as Acting Director of the Center for Mothers and Children in the NICHD.

As scientific director, Dr. Rennert oversees the research programs of 96 investigators and more than 400 trainees, organized around four thematic areas associated with human development:

  • Biology of cell fate
  • Biology of growth and development
  • Biology of reproduction
  • Biology of cognition and behavior
Within this framework are ten programs: in cell biophysics and chemistry, cell regulation and metabolism, and cell metabolism and biology; genomics of differentiation, developmental endocrinology and genetics, developmental immunology; reproductive sciences and medicine, perinatology; and developmental neuroscience and mechanics of motion.

A biochemical geneticist, Dr. Rennert works at the interface between biological and clinical research dealing with process of development/differentiation. His recent work in developmental genomics established a database of germ-cell genes. Unsupervised cluster analyses of the genes identified biological processes that occur preferentially at specific stages of spermatogenesis. His group also identified promoter modules that regulate stage-specific expression of genes and constructed signature networks of each cell stage that linked cell-specific gene candidates with neighboring genes, proteins, transcription factors, and small molecules. In addition to studying normal germ cell development, Dr. Rennert and his group investigated epigenetic changes associated with testicular germ cell tumor development and, using CpG island chips, examined changes in the global methylation pattern of testicular tumor cell lines and tumor tissues.

Dr. Rennert received his undergraduate degree from the University of Chicago, and his M.D. from the University of Chicago School of Medicine, in addition to a master’s degree in biochemistry. He completed his pediatric residency training and a postdoctoral fellowship in biochemistry at the University of Chicago. He is board certified in pediatrics, clinical genetics, and clinical biochemical genetics.

Dr. Rennert is author of more than 200 scientific publications. Among his scholarly activities, he has served on the editorial board of the Journal of Endocrine Genetics since 1990; the Vishnevskaya-Rostropovich Foundation Board of Directors since 2002;and the selection committee for the Pediatric Scientist Development Program, also since 2002. In 2005, he became a member of the External Advisory Committee for the Center of Medical Genetics, Peking University.

Dr. Rennert’s awards include “1996 Top Doctor” and “1994 Washingtonian of the Year” by Washingtonian magazine; Alumni Award for Distinguished Services, University of Chicago (1993); Clinical Scientist of the Year, American Association of Clinical Science (1978); and in 2005 Georgetown University’s Flame of Hope Award. Dr. Rennert served as chairman of pediatrics at the University of Oklahoma College of Medicine, University of Florida College of Medicine, Gainesville and Georgetown University School of Medicine, where he is Professor Emeritus of pediatrics.

July 11, 2009

Impending NIH Visit

This Monday, Bertrand and I will be traveling to Bethesda, Maryland to see the SEGEN group (section on endocrinology and genetics) at the NIH. Why endocrinology and genetics? There is a very rare and peculiar genetic disorder called Allgrove's Syndrome, or Triple A Syndrome, that is an increasingly likely match for Bertrand.

Below is a paraphrase of a paper entitled "Clinical and genetic characterization of families with triple A (Allgrove) syndrome" by Henry Houlden et al. published in BRAIN.

Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Using genetic linkage analysis in a small number of families, a locus on chromosome 12q13 was identified. The triple A gene was identified recently at this locus and called ALADIN (alacrima, achalasia, adrenal insufficiency, neurologic disorder). Associated neurological abnormalities include optic atrophy, autonomic neuropathy and upper and lower motor neurone signs including distal motor neuropathy and amyotrophy with severe selective ulnar nerve involvement.

So how does this relate to Bertrand? Bertrand doesn't cry tears. This condition is called alacrima and it ranges from simply no tears, to absolutely no eye moisture causing corneal blistering. This is the earliest indicator of Allgrove's. Fortunately, Bertrand has some moisture in his eyes, but not enough to keep them from appearing increasingly red. Achalasia and adrenal insufficiency (the other two A's in Triple A) can develop later in life.

Both a nerve conduction study and an EMG have confirmed that Bertrand has neuropathy. In particular, he is said to have carpal tunnel syndrome which is definitely "ulnar nerve involvement". Bertrand's excessive sweating, low body temperature and cold extremities could be symptoms of autonomic neuropathy. Also, as we've mentioned before, it is believed that B has the beginning of optic nerve atrophy.

Allgrove's is the only condition in it's literature to specifically mention Puerto Rican ancestry. That makes me (a Puerto Rican) particularly wary.

July 9, 2009

Oligosaccharides gone?

Cristina mentioned that Bertrand's most recent oligosaccharide test came back with no abnormal bands. I thought I should explain what that could mean.

Oligosaccharides are an intermediate product of cellular metabolism. Every cell produces and recycles them during its energy cycle. People with a lysosomal storage disorder can't produce a protein essential to some stage of the energy cycle. Wherever the break in the cycle occurs, oligosaccharides from the stage before start piling up. When oligosaccharides pile up, they tend to accumulate in internal organs like the brain or the liver. Wherever they accumulate, they begin inflicting damage.

The oligosaccharide test has a reasonably high false-negative rate. This means that often times, the test fails to detect them when they're really still present. Bertrand has tested positive for them four times now, so this could be the statistically expectable false-negative. We'll be retesting several more times over the course of the coming weeks and months to rule this possibility out.

If the oligosaccharides really have disappeared, this is good news, but puzzling news. Bertrand's metabolic specialist, Dr. Longo, said he knows of some extremely rare cases where they appeared in infants, manifested as an early-stage lysosomal disorder and then vanished without a trace. This is the extremely rare of the extremely rare. We certainly hope that this is the case.

Again, if they really are gone, the mystery only deepens. Chemically, he still has many other abnormalities, particularly in the liver, but none of those abnormalities indicate his symptoms or his developmental delays. At the very least, the oligosaccharides could explain his symptoms. If they somehow vanished, there are more questions to answer: Will his nerves recover, or is he stuck with the injuries he's received? Will his next brain MRI still show patterns of insufficient mylenation? Will his palette strengthen, enabling him to talk? Will his EEG normalize? Will he gain control of his muscles?

We'll keep you all posted as we learn more.

Occupational & Speech Therapy: Sessions 7/9/09

Bertrand's occupational and speech therapy sessions went very well today. With help, during occupational therapy, Bertrand was able to stand propped next to a big rubber ball! And then, during speech therapy, he sounded as if he was trying to vocalize the word "more"! YAY!

A Lesson in Probability

Life has repeatedly taught me that "shit happens". Good and bad things can happen to good or bad people. There is no justice or karma or plan. There is probability. Most days are uneventful. One day you may miss your plane which proceeds to crash. And, the next day you may die in a car wreck. (True story.) Like I said, shit happens. It's all a bell curve.

Starting last March, life dealt us a series of blows back-to-back. We were told our child had a progressive and fatal condition. Then we were told in April that his neurological condition was too far gone to qualify him for the only life saving treatment.

Yesterday, I found out that Bertrand's test for abnormal oligosaccharide bands, indicators of a fatal lysosomal storage disorder, after 4 positive tests, came back negative. Then, oddly, our mortgage company called us to refinance of our home for free. Lastly, Bertrand laughed.

I've been in and out of tears for over 24 hours. These aren't necessarily tears of joy--although, I can't even begin to tell you what relief I feel that Bertrand may have a chance to live his life. But, I feel so helpless, frustrated and jerked around. Up and down.

Gage, Cooper, Greyson and Joseph... all adorable little boys with fantastic parents, with friends and families who loved, supported and prayed for them, are all dead. They suffered horribly. They deserved so. much. more. There is no such thing as fair.

Gage (October 2008-July 2009) and Cooper (June 2007-July 2009)

Have I ever prayed for Bertrand? No. Many people have prayed for him, just like they prayed for Gage, Cooper and countless other kids. I don't presume the ability to influence the future in any other manner than with my own actions; and I know my actions will not always be enough. Good or bad, shit happens.

July 8, 2009


Today is a momentous day! Bertrand laughed for the first time! His first real laugh. Neither Matthew nor I could be any prouder! But, especially Matthew since he was the cause for the joy. :) This is truly a cause for celebration!

July 7, 2009

Bertrand vs. Copernicus

Bertrand has recently taken issue with Copernicus' heliocentric model, in which the planets revolve around the sun. Based on his observations, or so he claims, the solar system adheres to a Bertrand-centric model. All revolves around him--even the planets. :)

Bertrand pooped five times today, so according to Matthew, Jupiter is not the only gas giant on that bed. ;) I will not subject anyone else (as I was) to the subsequent, and predictable, jokes about the planet Uranus.

PS - Bertrand's physical therapy session today went well.