Was apparently acting a little screwy but it is all fixed now. < sarcasm > I know you were all waiting to knock my door down with blog comments < / sarcasm>. LOLRead More
Our weekly trash day is Thursday (today). Easily my favorite day of the week.
I have spoken with different people at Children’s since writing on 7/7 and really need to figure the best way to communicate. I like a nice bulleted list but that seems really cold and unfeeling. Let’s try it without the bullets:
I found out today that the EEG on 7/13 will be “sleep deprived” meaning that on Sunday night she is to have no more than 4 hours of sleep, preferably from about midnight until 4am. I imagine that they are hopeful that she will get sleepy when she is having the test because a lot of “not known about” seizures occur when a child is trying to fall asleep and they want to capture that. Let me state that Rachel, to my knowledge, has never had a seizure.
Rachel has been cleared to have her MRI on 7/23 under sedation (not anesthesia). I was a little surprised that she was cleared given all of the concern surrounding the idea of general anesthetic and the ERG but we are clear and I am grateful because I *REALLY* want to see if there has been any noticeable change. The MRI she had 16 months ago was without contrast and the new MRI will have contrast.
I did some looking into the lab that is doing the testing of her DNA for Batten Disease and depending on the type of testing they are doing it says that it will take anywhere from 3 weeks to 3 months. If only we could pee on a stick for every ailment, much like a store purchased pregnancy test.
Ryan, my nephew that is the same age as Rachel is on his way from Connecticut right now to come and spend some time with us. I think it will be good for Rachel to be around another child her age and have a buddy. Let’s just hope he doesn’t eat a lot, right?
I’m trying to keep smiling but its a very up and down battle. One minute I am convinced that she has something really horrible and then the next minute I have myself convinced that there is absolutely nothing wrong with her (and that she can see fine). Mostly I am just keeping on top of my life, my children, Rachel’s care, the web business and crossing my fingers that she is ONLY going blind.
Who would ever thought that a parent would be hoping beyond hope that their child was “merely” going blind. I never knew that a child could have normal vision and then go blind in childhood until this year. We’ve all heard of the firework accidents, the rare infection causing blindness and children being born blind for whatever reason. What else don’t I know about? I don’t think I wanna know.Read More
I had an hour long consult with Dr Darras and Rachel and we went over her history, the notes from the other physicians at Childrens and he did the typical “neuro exam.” And he looked at her eyes as best he could without dilation. We agreed upon an MRI with contrast, EEG, Skin Punch *AND* we are testing for Batten Disease. Batten Disease has been on our minds for a few weeks and I was not really surprised when it came up and I jumped at the chance to have her tested for it. Watching her decline due to some currently unknown cause is really really difficult.
Keeping her, my daughter, separate from her actions is almost impossible. I am so glad that this stage of testing is happening over the summer because I think that would have sent Rachel and me over the edge.
Also, I wanted to post this micro conversation I had with her today.
Me: “Rachel, what did I talk about with the doctor today?”
Rachel: “Because I’m a good daughter.”
Her language skills (receptive and expressive) have been problematic for quite some time but I wanted to write this one down because, somehow, it seemed relevant. When I am meeting with a physician they ask me all sorts of questions and I answer them in full with as much detail as I can offer and although she is sitting 3 feet from me, it is like she has no idea what we are talking about. Her working memory has been poor for a few years as has her language skills but she is definitely getting worse. I just wish I knew why. For better or for worse I want to know what is doing this to her, if there is any treatment and the prognosis. Several of the possible diagnoses are fatal. I have mentally accepted this but emotionally… I am swimming in the fucking river of denial.Read More
Anesthesia doesn’t feel comfortable putting her under without more testing and information. Our largest priority in all of this is keeping Rachel healthy and alive so I am more than comfortable waiting if that is what “they” want.
Instead of another day at Children’s, I am sitting at home watching “Cars” with Julie, London and Boston. Rachel was able to sleepover at my Moms last night after I did anything I could to get her to be as cooperative as possible with the Ophthalmologist. It is yet another rainy day here in Hull and I am kind of glad I get to stay home and just chill out. Surely the children would love to be at the park today or out and about but I am grateful for a day of nothing.
The next step for Rachel is meeting with Neurology on Tuesday, we have been bumped from “regular Neurologist” to seeing Dr Darras. Thank you to Dr Rappaport in Developmental Medicine for pointing us in that direction. From what I can tell, seeing a Neurologist is more crucial for Rachel right now than just having the ERG because the Neuro can help us get testing to see what is causing Rachel’s symptoms. I imagine there will be another MRI done very soon but I wonder if she will be able to sit still for this one. Her inability to attend has gotten noticeably worse than it was this time last year and it has been the best part of 16 months since she had the first MRI. I am sure I am worrying about nothing and Dr Darras will set us down the right path with testing that Rachel will be able to do with and without accommodations.
I will try and keep this updated regularly and keep it out of facebook. The other thing that happened yesterday is that we officially filled out the paperwork to register Rachel with the Massachusetts Commission of the blind. It wasn’t really a big deal because it was expected to happen either yesterday or at the next appointment. The biggest shock came to me earlier this year when the first Ophthalomogist first looked at her retina… I’m not sure I can be suprised like that again.Read More
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.Read More
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…Read More
Life isn’t going to slow down anytime soon. Rather than send Rachel to Ophthalmologist #3, I let her go to the musical that the High School kids are putting on. I just don’t want to put her through anymore tests until we reach someone that can actually perform the ERG.
One of my teeth is infected again and I wound up at the dentist yesterday with ALL 4 of my children in tow. Imagine having a dental examination and xrays while you have a 9, 5, 3 and 2 year with you. Seriously. The day before I had the four of them for cleanings and that was bad enough. I ended up getting a script for antibiotics as we are already working on the treatment plan and will extract the problem teeth next month. All this to say that while I am in the Dentist’s chair, the phone rings and it was Children’s Hospital letting me know that Rachel has just been set-up with an appointment with a Geneticist next Thursday!!!!!!!!! Very excited.
I’m not so excited about the fact that John is having surgery on Thursday and all the stress that comes with tight scheduling. I’m glad that he is having his nose and uvula taken care of but wish that it were on a different day. We will make it work.
This weekend I promised Rachel a Star Wars marathon. She’ll watch 1, 2, 3 on Saturday and 4, 5, 6 on Sunday. I need to figure out what room to have it in because of the light factor and I must come up with some snacks.
These kids are going to bed early tonight because Mommy needs a mental break. Hopefully my husband will come home soon (he is at a service call).Read More