As told by Kat

Three steps forward, no steps back

// June 30th, 2009 // 1 Comment » // Kat, Rachel

We got the results from the Developmental exam and the results were pretty depressing but nothing that I wasn’t prepared for.  He was not able to give us a diagnosis but a list of concerning areas from cognition to memory to attention, etc.  Everyone agrees that Rachel needs to get the ERG next to have a better idea of what she might have.  While we were meeting with the Chief of Dev. Medicine, my phone rang!  It was the Ophthalmology clinic 6 floors down to let me know that there was a cancellation for Wednesday (7/1)!

Rachel is having her initial office visit with Dr Fulton (Ophth) tomorrow (7/1) and will do the “new patient testing” as well as preoperative testing (ekg, etc).  It will be a crappy day for her but hopefully this is one of the last days that will be really bad.  Thursday she will have the ERG under anesthesia and some basic results should be ready at the end of the test and a full report will follow (I would imagine) next week.

- Wednesday: Ophthalmology and Preop testing

- Thursday: ERG

- Next Tuesday: Neurology

I’m sure  more appointments are in her near future but these are what I know about as of today (and they were all scheduled today.  I was supposed to take her to see a different Neurologist on Thursday but that was canceled in lieu of next Tuesday).  I have also sent an email off to the Geneticist to let him know about the ERG and to find out when he can see us again (our next appointment with him isn’t until August but with the ERG already schedule,  it should to be sooner).

Rachel also did the allergy testing a couple of weeks ago and both scratch & blood testing came back negative.

On a side note: I had my last two fillings today and they took my impressions for my “fake teeth!”  I am so excited to check that off the list.

Rainy Tuesday

// June 9th, 2009 // No Comments » // Boston, Fitness, Health, John, Julie, Kat, Life, London, Rachel, Work

I figure I will make this one a public entry.  For those who don’t know, we have (within the last month or two) found out that Rachel has a very significant vision problem that is actively degenerating her retina and her optic nerve is very affected.  We have done lots of blood tests to find out the source but ultimately she needs to have an ERG test completed for a definitive answer.  The ERG was scheduled for a few weeks ago but it was too much for her and we could barely even “drop her” (with the different kinds of eye drops required) so we are awaiting a miracle (LOL) in the schedule of Dr Ann Fulton at Children’s Hospital who can do an ERG under general anesthesia.   We have upgraded her IEP for next year and as a part of that, Rachel is (RIGHT NOW!!!) undergoing a functional vision assessment at school by a Teacher of the Visually Impaired.   The vision appears to be a symptom of something much bigger and we are working with a geneticist who is looking for specific stuff (including some chromosome deletions) that might be responsible for a great deal of things.  All of this takes time.

Julie and Rachel will be out of school in about 2 weeks and my Juliebean is GRADUATING PRESCHOOL next week in preparation for Kindergarten!  The girls both have their school concerts on Thursday so expect to see some pictures up here at the end of the week!  Rachel is now 9 and Juliebean turned 5 in March.

The boys are doing well and are the best of friends.  London is into playing Indiana Jones Legos and in the sandbox with Julie and Boston is a professional laptop destroyer and amateur escape artist.  They are healthy and obnoxious and eating me into the poor house.  Just as it should be.

I have lots of doctor appointments lined up for Rachel and hopefully this summer will bring us some answers so we can know how to best apply our efforts.  The girls won’t be doing summer school (at my request) so I will be trying to think of some fun summer ideas.  We did join the zoo last week so I will certainly want to get my money’s worth (LOL).

Most importantly I look forward to watch them just be kids.

John had nose and throat surgery on Thursday so I’ve been playing nursemaid with the help of the kids.  He is on the mend now but I am sure is drooling at the thought of steak right now even though he is nowhere near ready for that yet.  I’m sure it will be another week before he is better.  The nose is healing faster than the throat (he had his uvula out and his nose fixed).  No more snoring!!

Drop me a comment if you’re out there…