Genetic-Metabolic Clinic Follow-up

Bertrand's follow-up appointment with Dr. Longo and Rena, his genetic counselor (who Bertrand has a major crush on), went really well. B was said to be clearly progressing developmentally and not as spastic! Woo hoo! But in order to keep working toward a diagnosis, Dr. Longo needs more data. He went ahead and ordered the following tests/procedures:

• Brain MRI (looking at myelin formation)
• MR Spectroscopy (looking at N-Acetylaspartate levels)
• Electroretinogram (ERG)
• Visual Evoked Response (VER)
• Possible Neuronal ceroid lipofuscinosis testing (CNL3 Batten's disease)
• Alpha-fetoprotein & liver function tests--the usual tests for Bertrand
• Urine Polyols
• Alpha-l-antitrypsin deficiency

The ERG and VER are to test Bertrand's vision to see if it is deteriorating as consistent with neuronal ceroid lipofuscinosis, types 3 or above. Bertrand has tested negative for the early onset types CLN1 and CLN2, which makes this unlikely given how early his condition manifested. However, if his vision is being affected, then these are very much a possibility. There are 7 additional types of neuronal ceroid lipofuscinosis which can be tested for (at $3k a pop!), but the most likely next one would be CLN3, also known as Batten's disease.

The MRI is looking for brain abnormalities which could point us in the direction of SCN1, etc. testing. And, the MR Spec is being used to look for N-Acetylaspartate which is a strong indicator for brain damage or disease.

A urine sample to test for polyols (erythritol, xylitol, arabitol, and ribitol) is being sent to Baylor because elevated levels have been observed in inherited disorders of the pentose phosphate pathway.

And, lastly a test for alpha-l-antitrypsin deficiency is being sent out. This is a common genetic condition which causes elevated liver values in otherwise asymptomatic patients, but can cause severe lung and liver damage resulting in death for smokers with this condition. (Good thing Bertrand doesn't smoke!) For a long time Bertrand's medical team has assumed that his elevated liver function and movement disorder were related, but this test (a sop to me) would see if the elevated liver function is unrelated.

Rena, being the scheduling genius that she is, was able to arrange for the MRI, MR Spec, ERG and VER this Wednesday (12/23)! Which is fantastic! And then in an amazing double whammy, Dr. Sakonju was able to strong arm the Sleep Clinic into conducting Bertrand's sleep study and EEG before being seen in the Sleep Clinic in late January--TONIGHT (12/22). Quite the feat! Our insurance would pay for most of B's proceedures until December 31st, after which our deductible resets, so this accelerated testing is a blessing in more ways than one.

Dear Santa,

All I want is a healthy baby with no brain damage for Christmas.

XOXO
Cristina