MRI and MR Spec Results

MRI: BILATERAL ABNORMAL SIGNAL INTENSITY THROUGHOUT THE PERIATRIAL WHITE MATTER. IMAGING FINDINGS ARE SYMMETRIC IN APPEARANCE. FINDINGS ARE SUGGESTIVE OF A TOXIC/METABOLIC WHITE MATTER INJURY PROCESS. ADDITIONAL CONSIDERATIONS WOULD INCLUDE REMOTE ISCHEMIC INSULT. IMAGING FINDINGS ARE NEWLY CONSPICUOUS COMPARED TO THE PREVIOUS STUDY.

MR Spec: NONSPECIFIC SPECTROSCOPY WITH ELEVATION OF THE CHOLINE PEAK SUGGESTIVE OF CELL MEMBRANE TURNOVER. THERE IS QUESTIONABLE PRESENCE OF A LACTATE PEAK BURIED WITHIN THE BASELINE NOISE.

Lab Results: AFP: 102.5 (normal range: 0-15); ALT: 312 (normal range: 5-45); AST: 263 (normal range: 20-60)

Doctor's Take: "There are no changes since the evaluation done at Duke University [April 2009, age 16 months], but there are changes compared to the initial MRI done at PCMC [August 2008, age 8 months]." And, "This pattern is totally nonspecific and does not guide us further. I looked for abnormal peaks on the MR spec and there are none."

Our Take: Breaking down the medical jargon, what does "remote ischemic insult" mean? Remote means it happened long time ago. Ischemic means due to circulation (or lack thereof) and insult means brain injury (stroke and embolism are in this family). And my best guess for "periatrial white matter" is the that they meant "periventricular white matter" or the part of the brain with myelinated axons surrounding the ventricles (which contain the CSF) in the brain. Someone please correct me if I am wrong!

(Or, as Prof. Might likes to put it: grey matter is the CPU and white matter is the networking cable. Bertrand appears to have a networking problem.)

Since there has been no change in the MRI since April 2009, even though these findings are suggestive of a metabolic injury process, this also opens up the possibility of ischemic insult (for which Bertrand's cord blood could be used as a therapy) as a possible cause of Bertrand's issues. Unfortunately, this means the field has been widened instead of narrowed, and time may be the only determinant.

Holiday Photos

We had a fantastic time hosting the Might family for the holidays at our house this year! We can't wait until we get together next Thanksgiving! Below are some belated photos. More images can be found HERE.

While the obligatory Bertrand shot is at the very bottom, today my baby #2 (the house) leads the line up. It has been over a year of hard work but the house is starting to come together. She barely looks her age! We'll celebrate her centennial birthday with a party in 3 years. By then, I hope my To-Do list with the old gal will be shorter! :)

Limbo

I was desperately hoping to get at least the results for Bertrand's MRI and MR Spec today, but my phone messages have gone unanswered. I will try again, in person, tomorrow when I take Bertrand in for his blood work. I was supposed to take Bertrand in today, but he took an almost 4 hour nap after his lunch, which made it impossible. In a way I was glad he got one more day of rest, since his hands, feet and arms are all still bruised from the seven failed blood draws last week. :'(

I hope we get some results back this week--good news--to start the new year off with! Please wish us luck tomorrow.

Video of Bertrand on week 6 of the ketogenic diet

End of Year Medical Marathon

Tuesday and Wednesday of this week became an end of year medical marathon for Bertrand. For a variety of reasons, not the least of which because our insurance deductible is met through December 31st, several of Bertrand's procedures were shoehorned into last minute holiday cancellations. Things went about as smoothly as one could hope for, and the preliminary results are very good!

Sleep Study
Results in 2-3 weeks.

EEG
Results in 1-2 weeks.

MRI & MR Spec
Results next week.

VER & ERG
Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.

Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.

Labs
Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.

Bertrand's inner ninja

The MRI revealed the cause of Bertrand's problems--beneath his cuddly exterior, there is a miniature ninja:

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