Lauren has been having sleep seizures again, up to 40 per night, or as few as 2 or 3; and extreme fatigue during the day as a result. They have been occurring since their recent trip to S.F. to see the specialist. Carrie was hoping they were related to the flight (a change in barometric pressure can set off seizures in epileptics), but since they have not dissipated, they took Lauren to see a neurologist this morning at St. Joseph’s Hospital / Barrow’s Neurological Institute.

The doctor wanted to run several tests, including an MRI, full blood workup and a spinal tap. He decided to admit her so they could put her to sleep for these difficult procedures, and they will also keep her overnight to observe her during sleep. He wants to investigate several possibilities: her disease may be progressing, these episodes are really seizures, she has a serious virus, etc.

…just as I was writing the last sentence, Brian called with an update. Lauren’s spinal tap showed just a slightly elevated spinal pressure (normal = 18, Lauren’s = 19), so there is no concern and no need for a shunt. She was still under anesthesia, but was doing well. Children with Sanfilippo are very high risk under anesthesia because of their respiratory issues. They still had to do the MRI, so Carrie and Brian had not seen her.

The other news was the doctors were nearly certain these recent problems are not a result of her disease progressing. It’s too rapid a decline, so they feel it is something else going on.

Carrie said a huge number of doctors have been in and out of the room — all of them extremely interested in Lauren’s case. Sanfilippo is so rare, that doctors don’t get much chance to study it. Carrie said any and all were welcome as long as they were very careful not to bring any bugs in to Lauren. The more medical professionals become acquainted with her disorder, the more awareness is brought to it and possibly more knowledge and expertise in treating such children.

I’ll update when I have more information. Please pray for little Lauren, and also for Carrie and Brian. This is a stressful time.

6 Comments

  1. Keep us posted. We are praying for a diagnosis with a treatable result.

  2. I’m sorry to hear that! She’s in my thoughts.

    I’m not too familiar with sleep seizures, but I assume it’s different than sleep apnea, due to the number of tests etc. In either case, it doesn’t sound like it can be any fun, and I hope she gets better soon.

  3. Brian just called. Lauren’s in her room, and is ready to settle down for the night. He said she has been such a good girl all day long.

    These seizures are not really like apnea. They seem to be mostly muscle related because previous tests ruled out brain seizure activity, but Carrie says she looks like she’s having a grand mal in her sleep. The stronger ones wake her up. Very puzzling. Hope they find a cause that’s treatable.

  4. Our thoughts and prayers are with the family.

  5. Sending love and hugs to Lauren and family. I always pray for her.

  6. Any update?

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