Idiot Geneticist

Here's the re-cap from our April 10 appt.

This guy is an idiot. I will be writing to whoever I need to about this ding bat.
We walked in pretending we knew nothing more than at our last appt with "Idiot" (my nickname for him) in January. We asked him what his next step would be in finding a Dx for Logen. He said a blood test for Mitochondrial "stuff". We said ok, explain. He blah, blah, blahed. We half listened- already hearing the cons and pros of the biopsy and blood testing from Dr B in St Louis. And, as you all know by now- we trust StL with everything b/c they haven't screwed up.

So, interesting part happens. He says this is the LAST step for Logen. IF this blood work comes back normal, then we are done. There is no more testing. This is it, end of the road.

I sat up and said, "Well Dr Idiot- Have you heard of Dr Shoffner?"
Dr Idiot: Hmmm. Yes. (puzzled look. crap! How do you know about him?!)
Me: Would you consider sending Logen to him for a muscle biopsy?
Dr Idiot: Well, I don't really think that would be necessary if the blood work is normal
Me: From what I have been told and researched myself, the blood tests can be wrong. I think it would be best to get accurate results so we can begin treatment, if possible.
Dr Idiot: (Another oh crap look! This mom may actually know what she's talking about. And, he just sits there like a big dufus.)

I'm not kidding- he wraps it up by TELLING me we will draw the labs and he will see us soon. I'm like, uh- WHAT?! I went ahead with the labs, b/c IF they show something- then, ok- we may have an answer sooner (7-8 weeks). But, I really DOUBT we drive 4 hours to see this guy again. Horrible. And, how can you tell a family that this is the end of the road for them? It's obviously NOT. Had we not had the knowledge we do and not been to StL, then we wouldn't have known about Shoffner. There are other familes out there trusting this man. And, I feel he's incompetant. He was arrogant. He walked in saying he was the best there is. And, he is clearly NOT. He told us this the last time we saw him as well. I should have taken Logen and ran quickly then, but I gave him a 2nd chance.

So, there's part one of drama from those appts. Crap! Total Crap. I'm going to bed now. I'll be back soon!

PS: the short 1-2 line posts are via text. Thats why they are short. :)

Recent Genetics Clinic Note

A lot has happened in the last week. I received a large packet of medical records on Logen to take to St Louis. I have several things to post- But, I'll start here-

Dear Dr F,
I had the opportunity to see your patient, Logen, in the genetics clinic here at ___. As you may be aware, Logen has a very complicated medical history. He has been seen by mulitple specialists including Neurologists and a neurogentic work up has been initiated. To date, he has had prometaphase choromosome studies, advanced micro-array studies, and chromosome 15 methylation studies. All of these were normal. In brief, then, there is currently no unifying diagnosis for Logen's constellation of problems.

In reviewing his case with his parents then, the major problem list at this point in time include:
1) Significant neurodevelopmental delays (particularly in speech production)
2) Asymmetric spasticity
3) Seizure disorder
4) Lipoblastoma of the thigh
5) Craniofacial Dysmorphisms (on my examination today, I felt he had distinct flattening of the midface, prominent epicanthal folds, and an upturned nose. Below the neck he had no striking congenital anomalies that I could detect.)

I discussed with his parents that he has a very good and thoughtful first round evaluation. A second-tier would be indicated. They were agreeable to this. Given the constellation of spasticity and seizures, I did do MECP2 gene testing and ARX gene testing as well. Also, given the lipomatous tumor on his thigh, I also did PTEN gene testing.

We will follow up with the family once these results are available. ..... I did also briefly broach the possibilty of a third tier of evaluations for their consideration. This would include a work up targeted more towards mitochondrial/metabolic disorders.


~~~~~~~~~~~~~~~~~~~~~~~~~~~

We found out on Monday that the tests above were *normal*. These were the ones we waited over 7 weeks on. He has an appointment to see an Endocrinologist and the Geneticist in early April. We will do the 3rd tier testing at that appointment. And, I'm sure it'll take another 2 months or longer to get those results back.

His Neuro has ordered a spinal tap. There is something (I can't remember- I wrote it down, somewhere!) in the CSF that can cause some of his 'problems'. The only way to know is through a spinal tap (which scares me....)

This week has been off. He's had seizures and his behavior has been very aggressive- he's not listening, behaving, etc. I spoke with a nurse from St Louis every day last week- thats why I just love them . They called ME to check on him. They are working on getting him in to see an Epilepsy Doc asap and the neuro in the same day. (B/c of our travel) Our dr has a 6-8 month wait list, so this isn't easy!