UNC/Duke Report

Last week was an informative one! The experts in Neurodevelopmental Function in Rare Disorders at UNC and Medical Genetics at Duke are top notch. One leaves their clinics with so much new information (so much of it actionable) that it is a little bit overwhelming. That said, I'll do my best to summarize what we learned.

From UNC:

Dawn, physical therapist

• She said Bertrand is very close to being able to get to sitting on his own.
• She said he needs to practice getting off his y-axis: trunk rotation, balance, coordination.
• She said he needs to stand while weight bearing on his arms.
• She said he needs to reduce his back arching.
  

Sheryl, speech therapist

• Sheryl is a new therapist with the NFRD group with little to no experience adjusting cognitive and linguistic tests for kids with physical limitations.
  
• She tested Bertrand differently from the prior speech therapist at NFRD and found cognitive and linguistic regression (now 6 month-old level) in him.
• Both Dr. Escolar and I are focusing on findings from the parent questionnaire, which shows he has developed significantly in these areas since last time.
  

Dr. Holly Martin

• She would like to see Bertrand closer to 25 percentile weight.
  
• She suggested working with a nutritionist to attain weight and nutritional goals.
  
• She provided thickening medium to add to fluids to encourage drinking from a cup.
  
• She would like an EEG as Bertrand's absence (petit mal) seizures are worsening.
  

Dr. Maria Escolar

• She does not trust the negative oliggosaccharide (a.k.a., GAGs) screen as it returns high false negatives and would like it retested at the UAB lab.
• If the Glycosaminoglycans (GAGs) return elevated, she recommends working with a biochemist to back solve for which enzyme Bertrand is missing.
  
• Due to concerns about Bertrand's basal ganglia, she would like to see an MRI in October, 6 months after his last MRI.
  
• She would like to see Bertrand tested for Pelizaeus-Merzbacher disease (PMD).
• She mentioned that if Bertrand's condition is one of the metabolic ones then standard anticonvulsants (seizure medicaitons) won't work well if at all.
• She sees Bertrand's inability to self-soothe as the biggest immediate concern and one we should work feverishly on.
  

From Duke:

Dr. Vandana Shashi

• She said that Bertrand does not have microcephaly. Both measurements taken at Duke placed him between the 10th and 25th percentile. (Yay!!!)
  
• She thought that Allgrove syndrome was not out of the question and ordered genetic testing for it.
  
• She requested and drew additional DNA from Bertrand to use if she comes up with additional tests she'd like done.
  
• She said that Bertrand seemed very improved and would venture that his condition may not be neurodegenerative. (Yay x2!!!)
  
• She noted that his seizures were worse and attempted to get an STAT EEG at Duke, but unfortunately the hospital was full.
• She believes that a trial of anticonvulsant, with little to no liver involvement and liver monitoring, is called for.
  

Dr. Joanne Kurtzberg

• She candidly said that can't help him.

This post is not perfect. I will try to add more items as I remember them. I also can't forget to mention that, while there, we had a fantastic time with our North Carolina family! Kelly, Rob, Julie, Ben and Luke--Thank you!