January 31, 2011
January 28, 2011
January 27, 2011
"Some people only know one way of giving - with both hands, with all their hearts, without a second thought. Thank you for being those people."
January 26, 2011
Bertrand is expecting a little sister in early April 2011, and several people have asked about this pregnancy. I'd like to be a coward and say it was unplanned, but the truth is otherwise. A lot of research, discussion and consideration was put into the decision to have another child. Some of our journey and thought process is detailed below.
The Nightmare - 2008, 2009
Coming from large, happy families (one of 4 sisters and the other of 3 brothers), siblings for Bertrand were a given when Matthew and I were unaware of his medical issues. Once those issues arose, however, contraceptive measures were taken to give us time to determine the basis of Bertrand's condition.
One doesn't have to google long to find stories of families burying 2 or 3 children from genetic conditions. The suffering Bertrand had already experienced by 6 months-old was heartbreaking, and to imagine it compounded by another child suffering the same condition was impossible for us.
Besides, once Bertrand's condition was found to be severely life-threatening, our sole focus became providing the best of care, attention and quality of life. Fulfilling this alone, never mind managing the search for The Answer regarding his condition, was exhausting. How could we care for another child?
The Awakening - 2010
I'm not quite sure how or when it happened, but at some point our family found it's "new normal". The therapy and doctors' appointments, blood draws and medical research--it all became second nature. Bertrand was set on a roller-coaster ride of treatments ranging from the ketogenic diet to ACTH injections to stem cell infusions, because our goal shifted away from finding The Answer to simply improving Bertrand's quality of life. This meant we could finally make progress--measurable in adorable smiles.
We also met families in similar situations. The advice from these other parents was invaluable, and catching glimpses of their family lives made us finally rethink our own. The families with siblings, both older and younger than the special needs child, were HAPPY. The siblings contributed in countless ways to the care and joy of the special needs child and their parents. Any neglect siblings experienced was really in their parents' heads. The siblings were well-adjusted, cheerful, compassionate, beautiful human beings.
The last factor was community. From the beginning, Matthew's colleagues and the University have been incredibly supportive of our family. We've grown an amazing group of friends who accept our son for the lovely being he is and Matthew and I for the crazy people we are. Bertrand began his academic career--at the Pingree Center for Autism and now at Ensign Elementary's Special Ed Preschool--thereby giving his Mama a break. And finally, Bertrand's aunt Sabrina moved-in, while his Nana and Papa bought a second home close by.
If it takes a village to raise a child, we had managed to amass a nationstate.
The Dream vs. Reality - 2011
We'd heard many times that "there is never a right time to have a child", but I think we managed to get as close to a "right time" as one can expect to get. Currently, Bertrand's condition is remarkably stable. We may be getting The Answer afterall--in the form of our family's full genome sequencing being done at Duke University. Even though there is no evidence of an inherited disorder, we lucked out with this baby being a female (XX). This means that if Bertrand's condition is an X-linked inherited one (X-linked conditions have always been at the top of the suspect list), the baby wouldn't be affected even if she is a carrier.
Medical justifications aside, I was terrified of announcing my pregnancy until almost 20 weeks along. Did I expect to be crucified? I don't know, but the reactions have been overwhelmingly beautiful. Everyone, from our close family and friends to Bertrand's doctors, teachers and therapists, has been excited and borderline giddy! There is even a wonderful baby shower being planned by all my wonderful if insane ;) friends and family. It's clear that little Victoria Elizabeth will be welcomed into many loving arms, just like her brother Bertrand has.
January 25, 2011
The 2011 UAAACT Conference, Cultivating Success with Assistive Technology, will be held at the Ogden Eccles Conference Center (2415 Washington Boulevard, Ogden UT 84401-2315) on February 9-10, 2011.
There is no fee for Utah residents to attend the conference, but registration is limited to the first 350 individuals who email, mail or fax in their registration forms.
January 24, 2011
* * *Final Report* * *
DATE OF EXAM: Jan 6 2011 1:32PM
MRI BRAIN WO CONTRAST
MR SPECTROSCOPY OF THE BRAIN
PROCEEDURE REASON: Epilepsy and recurrent seizures
Intractable epilepsy and neurodevelopmental delay
There is bilaterally symmetrical, nonspecific T2/FLAIR hyperintense areas noted in the periventricular deep white matter adjacent to the atrium of bilateral lateral ventricles, extending to the occipital lobes. Compared to multiple prior outside MR studies, there has been interval increase in size of these abnormal periventricular lesions. Small T2 hyperintense white matter foci are also seen within the left front centrum semi ovale (series 5, image 7), nonspecific in nature. No other parenchymal mass, mass effect or extra-axial fluid collections are identified. Diffusion weighted images demonstrate no evidence of restricted diffusion.
The ventricular system is normal in size, shape and configuration. The cortical sulci are unremarkable. No abnormal intra- or extra-axial fluid collections are identified. The midline structures are unremarkable. The cerebellar tonsils are above the foramen magnum. The myelination is appropriate for age.
The major intracranial vessels are patent. The visualized portions of the orbits, paranasal sinuses, and mastoid air cells are unremarkable.
MR Spectroscopy: Multi voxel MR spectroscopy images demonstrate normal pattern. No evidence of abnormal neuronal activity or increased lactate formation is identified.
IMPRESSION: Bilaterally symmetrical, periatrial T2/FLAIR hyperintense deep white matter signal abnormality. There has been mild interval progression of this abnormality compared with multiple prior outside MR_s. No specific associated MR spectroscopic changes. The MR features are nonspecific and the differentials include metabolic, mitochondrial and dysmyelinating disorders. A contrast enhancement MRI may be performed if there is clinical concern for adrenoleukodystrophy.
January 23, 2011
January 20, 2011
January 19, 2011
January 18, 2011
January 17, 2011
January 13, 2011
On February 2, 2010, a care plan meeting was scheduled with Bertrand's parents. At that meeting, they identified the following goals for their son: "According to the parents, Bertrand will develop more communication. He will tolerate changes in the environment. He will improve his social awareness, including eye contact." The parents and team members reviewed this goal in August 2010 and determined it was still appropriate for Bertrand. While Bertrand has faced many medically related difficulties in reaching his goal, he still has shown progress. He is able to remain regulated in the classroom for longer periods of time. He is showing improvement in his ability to use eye gaze to communicate with others. He shows more enjoyment in the classroom through increased eye contact, laughter and smiling. His parents note that he is doing many of the same things both at home and in other environments. This progress cannot always be captured through developmental assessments. However, developmental assessments have been completed with Bertrand using the Early Learning Accomplishment Profile (ELAP). The results from his assessment are provided below:
ELAP (3/15/10) ELAP (new) Gross Motor 5 months 6 months Fine Motor 1 month 3 months Cognition less than 1 month 3 months Language 1 month 5 months Self-Help unscorable 6 months Personal/Social 3 months 6 months
January 11, 2011
Bertrand had his orthopaedic follow-up at Shriners Hospital today. The main point of concern is his right hip. It is subluxated 50%. Fortunately, it hasn't gotten worse since his last appointment even with the break of his right femur in October. "Stable" is the word of the month!
January 10, 2011
As expected, we came away with no answers, diagnosis or prognosis, BUT a treatment plan has been put into place! While in some ways we learned little from our time at Cleveland Clinic, in many ways we learned a LOT--starting with the importance of proper EEGs, serum medication level monitoring, medical team communication and attention to detail.
Bertrand was asked to return for follow-up in 6-12 months. We'll aim for sometime between August and October at the latest. (Can you tell we've been scarred by all the winter flight delays, cancellations, and reroutings?! Matthew, who was supposed to arrive early yesterday evening, is currently stuck in Phoenix!)
Bertrand was seen by experts in epilepsy, neurogenetic/metabolic conditions and movement disorders. He had an MRI, an MR Spectroscopy, over 3 days of EEG monitoring, and blood work.
The preliminary reading of Bertrand's MRI stated that it was unchanged from his December 2009 MRI. The myelination of his brain white matter has neither improved nor worsened.
According to the EEG, Bertrand's main seizure type is myoclonus. He has them in clusters awake and many in his sleep. Many of his atonic episodes were actually large myoclonus. His random laughter is not a gelastic seizure, but rather a reaction post-seizure because it feels good somehow.
Most of Bertrand's abnormal movements are in fact a movement disorder. They are called stereotypies: repetitive or ritualistic movement, posture, or utterance, found in people with mental retardation, autism spectrum disorders, tardive dyskinesia and stereotypic movement disorder.
A few drugs could help a little with the movements, but they wouldn't eliminate the movements entirely. The same drugs also greatly reduce seizure threshold, which is why they should be approached with caution.
Since seizures prove the greater hurdle for development and learning, over the next few months, Bertrand's current drug & diet regimen will be optimized for maximum seizure control and minimum side-effects. This means frequent blood draws to check serum medication and liver function levels.
Speaking of liver function, Bertrand's AST was 83 and ALT was 98. These values are still elevated slightly but FAR lower than the 600s at which they once were! We're not sure if this is simply part of their downward trend (like his AFP), the result of his ursodiol/actigall regimen, or the result of his stem cell infusion last August.
This makes the ideal medication for Bertrand's seizures a combination of lamictal and depakote (valproic acid), or perhaps even just lamictal or depakote. Bertrand was just raised to 100mg daily of lamictal and will need his serum levels drawn for that. We need to keep tracking his seizures.
In the meantime, we will proceed with a zonegran wean, then a keppra wean and then a ketogenic diet wean (or vice versa). All three treatments caused severe sleepiness, reflux, constipation issues, elevated heart rate, bone density loss, and possible kidney stones. He may be able to drop his prevacid (for reflux but causes bone density loss) and miralax along with these.
(I can't even begin to imagine what it would be like! 2 medications instead of 6 plus countless supplements?! Bertrand being able to eat a cupcake at his own birthday?! Without seizing?! It sounds like a pipe dream, but hey, we'll give it a whirl!)
From a testing standpoint, the neurogeneticist seemed pretty impressed with all the testing done so far. For glycogen storage diseases, Bertrand's testing to date had been for carbohydrate deficiency transferase & oligosaccharides--markers for those diseases. While these markers had come back negative repeatedly over the past 2+ years, a new genetic panel for this family of diseases had come out--all 30 can be tested quickly and cheaply--so this was sent out to be done.
Two more X-linked diseases, CDLK5 (another form of Rett Syndrome) & ARX, were put on the table, but since these will be covered by the genome sequencing being done by Duke University (results due late this month or next), these tests were held off on.
We'll stay in touch with the team at Cleveland Clinic while we implement Bertrand's seizure treatment changes. And, when we return in a few months, they'll be able to address more of the movement disorder and neuropathy/demyelenation aspects of his condition. (He'll see FOUR neurologists at Cleveland next time!)
January 4, 2011
Bertrand has a habit of keeping things interesting for medical personnel, and he wasn't about to cut the staff at Cleveland any slack!
We arrived at the Cleveland Clinic on Sunday afternoon, had our first appointments on Monday, and last night was Bertrand's first night staying inpatient. (His room is M52-05 in the Pediatric Epilepsy monitoring unit.)
Before arriving at the Cleveland Clinic, we'd heard it described by friends as "medical Disneyland", so our expectations were set pretty high. The Clinic hasn't disappointed!
It is a MASSIVE, multi-block medical complex, interconnected by skyways (extensively peppered with flat screen TVs) with optional patient shuttles.