(photo: ‘frontal bossing’ on full display)
I haven’t blogged in many months and yet traffic to the site remains steady. Thank you for your continued interest :) I promise to add another post next week about how things are *really* going. Until then, here’s a status update:
- The medication in Owen’s intrathecal baclofen pump has been titrated (reduced) down to almost nothing. The baclofen was switched out with saline in early December. He is scheduled to have the pump removed on February 9.
- More oral medications have been added to his daily routine: oral baclofen and tizanidine. Net effect is that Owen is now tight AND dopey. His dystonia is virtually unmanaged. The medications serve to give him (and his caregivers) brief reprieves through sleep.
- We found out (well after the hospital stay) that Owen’s pump is one of many recalled by Medtronic due to potential faulty manufacturing. His pump’s serial number appears on their recall list. Commonly, when a defect is discovered a company will recall all products perceived to be at risk, which can be a number exponentially higher than those that are actually defective. Prevailing opinion (including that of his neurosurgeon) is that while Owen’s pump is on the list, it does not meet Medtronics’ criteria for being faulty – namely, Owen’s pump is easily refilled and faulty pumps are not easily refilled. However, faulty pumps do not regulate medication dose properly and can over- and/or under-dose without warning – which is what Owen’s pump appeared to be doing. I don’t know what to make of all of this. I’ll have no further comment on this until the pump has been removed and analyzed.
- Because Owen seems to be increasingly uncomfortable (and often in pain) from markedly increased spasticity and dystonia, I have agreed to allow several tests I have resisted in the past. Skin biopsy (completed), lumbar puncture and muscle biopsy (both of which will be done during pump ex-plant). These tests are querying several different diseases/conditions, including mitochondrial disorders, Niemann-Pick Type C and other lysosomal storage disorders. (If you’re curious, you’ll have to look these up. These are fairly devastating diagnoses and best if I don’t describe them here. Although I have to add that my sense is that these will all come back negative. Intuition or blind hope?)
- Owen’s recent genetics report says he has low set ears and frontal bossing (big forehead). Jeez.
Hi Jen,
I’ll go along with your intuition and/or blind hope — Just even from what I’ve read about and heard from you about Owen, it doesn’t sound to me that a lysosomal storage disorder is in keeping with Owen’s history and characteristics. There’s some overlap, sure, but it seems like you would have known by now if he such a disorder, as a lot of the symptoms are so dire – and has anyone ever told you that he had enlarged internal organs of any kind? That seems like a key base symptom.
That’s my armchair two cents… I hope that the tests do help out in some way – if nothing else, to rule some things out. I’m sorry to hear that he’s in increased pain (and increased spasticity).
On a separate note, I love his frontal bossing in all its glory, as well as that great Uncombable Hair of his! He’s such a beautiful boy.
I suppose I should enter the Present Day, and get some rss stuff together so that I’d know when you update here… but I don’t wanna. Just like I don’t have subscriptions to magazines. But I’ll keep checking back & am thinking of you and yours. -MC