Mish Mash

My cute Ben...but I think the safety goggles are a little tight.

Happy Birthday Karat
I can't believe he's 8 already. It seems he was just a puppy. A troublesome puppy at that. I vividly recall the day I got home from work and discovered he'd eaten the linoleum kitchen floor. And the morning I awoke to find he decided he wanted to be IN the couch instead of ON the couch and chewed into the interior. And how could I forget the day I found a 2 feet hole in my sheetrock. But for all that, he is the absolute BEST dog. I couldn't ask for a better companion for my kids. Then and now...

Genetics Results
I left a message for the doctor's office this morning. All the tests were negative 'for his age'. Not sure what that last section means but that's what they said. A huge part of me is relieved, but at the same time it's one more dead end. The geneticist WILL NOT test Connor unless Jeff had positive results. I don't want there to be something wrong with Jeff or Austin or even Connor, but I just want to put all the pieces together. I still feel his mutation MUST mean something.

Sick Boys
My twins are sick. Aunt Karen has called me three times at work already and poor Connor was just SCREAMING in the background. His ear hurts. I feel like a bad mommy for being at work. Yet another trip to the ped.

Over the Hill?
A lot of people say that turning 30 is the worst. It's that time when you feel you need to actually be an adult. I felt that way. My entire 20's I tried to pretend I was a kid playing adult. I had a hard time when my 30th rolled around. But, in the year or so since, I realize not much has actually changed. For better or worse I have settled in...that is, until I got my mail yesterday. I opened my mailbox expecting to find the usual assortment of bills, credit card offers and fliers, but this time there was something else. I saw the return address and time stopped. My first thought was the mailman had given me someone else's mail, but no indeed, my name was listed as addressee. I can only hope someone found some way to get me on their mailing list as a joke. Personally I am NOT laughing. I am much to young for this...right? Someone tell me that time hasn't shifted.

Oops Forgot Something

I forgot the funny part of my post.

Saturday night Ben and Connor were at the table eating dinner. Jeff and I were in the kitchen making our dinner, not really paying attention to them, until we heard Ben whining. We heard him say 'I am not'. Then he turns to us and says 'Connor called me dorky'. Jeff and I nearly fell over we were laughing so hard. Poor Ben just got more upset. Don't know where Connor got that from! They are only 3!

Happy Birthday Ben & Connor

I can't believe my babies are three. I still remember the day we found out I was pregnant with twins. We were shocked, but overjoyed and we knew life would never quite be the same.

Mommy and Daddy love you boys so much. Here is our birthday tribute to you!

Make an online slide show at onetruemedia.com

Day of Doctors

Friday was a LONG day...all five of us had appointments scattered between 8 and 4. Add onto that, the gastro bug decided to take a second hit at me. I was NOT feeling well at all.

The morning started with a visit to Austin's local neuro. I use the term local loosely because she is actually from NYC and visits our area twice a month. She is considered Austin's secondary neuro...and that was her choice. She felt that because she had a large caseload and because she was located 3 hours away and because the Boston neuro had been in place longer, that she was comfortable with the secondary status....that is, until Friday. Austin had been on schedule for EEG's brain MRI's and ERGs every six months. We go to Boston to have this all done. Well our insurance decided to deny those visits this time around. I talked to the Boston neuro and because Austin was stable and things were going good, then he (and I) were okay with it. I even relented and said I'd do the next 24 hr EEG here at home. But this was BEFORE we started noticing the recent issues. And I think we handled the unexpected well. We managed to get a quick EEG, even if I am not altogether convinved by the results of it.

As soon as I started updated the neuro about all that has transpired since we last saw her, she freaked. She reminded me how critical it is to maintain control and to react at my intuition and to not let the scheduled six month appts slide. She stated she felt she should take over as primary and that if insurance denies out trip to Boston or even our trip to Beth Israel (her hospital) in NYC, then she can get him in down there on Medicaid. I felt chastised. Jeff was upset by her attitude towards me and that I let the ball drop. He was annoyed. And while I appreciate him wanting to 'protect my feelings'...she actually very right. I am normally 100% on top of everything and I never let the insurance company tell me no. But for a short stretch of summer and fall, I just didn't have the fight in me to deal with it. And I did let it go. Of course at that point I thought everything was great and fine...my intuition wasn't reading far enough ahead.

We decided to proceed with the 24 hour EEG scheduled locally and if there is ANY question about the reading she plans to admit Austin to Beth Israel...even if she has to use Medicaid to get him there. The problem is...I do NOT want to go to NYC with Austin by myself. While I have never really been into the city...just the thought of it scares me. It is such a bigger city than Boston.

Also, I discussed all the TS stuff with her based on the geneticists appt the other day. She was incensed that they would not test Connor. She decided then and there that she would add Connor to her caseload and take over the TS issue. This is a big deal. She takes on VERY few patients because she is only here two days a month and I don't think she has EVER taken on a child without seizures. She is an epileptologist. So it was a good and bad start to my day. She gave me lots to do to prepare for our next appt.

Our next stop was to the pediatrician for Ben and Connor's three year old check up. Ben tips the scales at 35 lbs and 37.5" and Connor, my lightweight, is 31 lbs and 37". You may think, oh that's only 4 lbs, but there is just a density difference between those two. Ben is SOLID and Connor is like puffy air. But the good news is they are healthy, perfect boys. The ped also agreed to take up the issue of TS testing with the insurance company. She will work with the NYC neuro to get everything into place.

Next up was my appt. It was supposed ot be a well visit, but since the GI bug took another hit at me we spent it ruling out other causes. By late saturday I was feeling better.

The last appointment of the day was Jeff's. After the geneticist appt the other day, we scheduled him to talk to his doctor about TS testing. While the dr admitted he didn't know all the specifics of the disease, he whole-heartedly agreed that Jeff should have a full diagnostic screening. I am waiting to hear today on whether pre-approvals were obtained so we can schedule him.

A long day, but a productive day. I feel all the doctor's are on the same level now...we are all working toward the common goal of getting seizures gone, getting Austin's development back...and making sense of the whole TS issue. FINALLY!

Geneticist

Took me a few days to get around to this. It's been non-stop around here.

So I took Connor to see Dr A. He is Austin's geneticist also. I didn't expect it to amount to much this time. Connor has been to see Dr A before and he has tested for quite a bit. Nothing has been conclusive to date. From day one I have wanted to test Connor for the same TSC2 gene mutation that Austin has. Unfortunately...or fortunately, Austin's mutation is inconclusive. The 'specialists' don't know if it's a disease causing mutation. Generally a person with Tuberous Sclerosis Complex has skin findings known as ash leaf spots, as well as tubers that can be found throughout the body. Developmental delays and seizures are also associated with TSC. Austin doesn't have any of the skin findings, but does have a brain lesion. He also has the seizures and developmental delays. Jeff was determined to have the same mutation, but has no other findings. Because of this, the geneticist feels the mutation means nothing and therefore, we don't need to explore it further. However, Austin's Boston neuro and the boys' developmental pediatrician feel it does bear looking into because the affect/extent of the disease can be wide ranging. It is believed that the disease is under-diagnosed for this reason.

No matter what I say, Dr A refuses to do the test. He was supposed to meet with the boys' developmental ped to discuss this issue. I found out about a week ago that the meeting got cancelled. I suggested we re-schedule the appointment, but I was assured that Dr A had other issues to discuss...so off we went. I'll tell you that I hate geneticist appointments. It requires going to the hospital, dealing with the always full parking garage and the appointments are always 2+ hour.

We met with the genetics counselor first. She reviewed history and then mentioned two tests Dr A wanted to do... a test for Smith-Lemli-Opitz and a Genomic Microarray. I once again stated my case for the TSC test. She went and met with Dr A and then they both came in to talk to me. After examining Connor he decided not to do any testing this time. A waste of time, just as I expected. He did say though that he would be willing to do the TSC test, IF and ONLY IF, Jeff had a full diagnostic evaluation and something was found. So I have a glimmer of hope.

Although I wonder why I should be hoping to find something. It's not that I want Austin or Jeff or even Connor to have a disease. I truly don't, BUT I also don't want to ignore a test that could have long term effects on their health, or the health of grandkids. The thing with the tubers is that they can 'grow' in the body at any time. Generally the tubers are harmless, but not always. I just don't want to look back 10, 20 years from now and realize that we chose to ignore an inconclusive test.

The one positive from this appointment is that I had the chance to learn a little more about Smith-Lemli-Opitz. Although I agree that the diagnosis doesn't fit Connor, it DOES fit my cousin's son Aaron. As I read the diagnostic criteria, I truly felt I was reading Aaron's medical chart...right down to the Hirshsprung's Disease. It would be great if we managed to find something that could be causing Aaron all his troubles.

So I guess it wasn't a total waste.

From the Mouths of Babes- Take 2

So I posted Austin's story earlier in the week...now it's Connor's turn.

Note- only the New Yorkers may get this...

We were driving through downtown Albany, headed to the Geneticist. You never know what you are going to see along the way. I was busy scarfing down a McD's snack wrap, when I noticed the Liberty Tax Store on the side of the road. Now if you are familiar with the store, you know that during tax season there is almost always a person dressed as Lady Liberty standing out front trying to promote the business. Well, in the case it was a large man, in a green toga, with a foam crown and torch in one hand. Connor glances at the man and yells...Hi Dinosaur! It's a darn good thing my windows were up, because he did look sort of like a stegosaurus and I wasn't sure he was the type to take kindly to that. Regardless it was too cute and it took all my willpower not to snort snack wrap out of my nose!

I'll post on the genticist tomorrow, once I get a chance to do some research.

Slacker

I am a major slacker lately when it comes to the blog...and my stress level is high. Work is unbelieveably busy and my next week or so is crammed with appointments and stuff.

Tues- meeting regarding kindergarten
Wed- Connor to genetics
Fri- Austin to neuro, Ben & Connor to three yr check up
Sat- PartyLite Party
Sun- B&C's b-day party and Super Bowl
Tue- Austin's speech eval and school party for Ben
Wed- B&C's 3rd b-day, my mom's b-day, Austin's psych eval, school party for Connor
Fri- Jeff's b-day
Sat- Carli's party
Following Wed- 24 hr in hospital EEG for Austin

With all this going on, I am having a hard time concentrating at work and at home. Once this is past, I hope things will quiet down for a bit. So I am apologizing now if I am absent for long periods of time....bear with me, I will catch you up on the latest.

Thank You Jeff

Just wanted to thank my husband for passing on his extreme cross bite to the three boys. Don't complain to me Honey when they all need orthodontia in a few years!

Dr Jen also pointed out that Ben & Connor both have tight frenums (the little skin connector beween the front teeth). I actually knew this already from it's possible impact on speech development. She said we could watch it for a few years and if it's impacting their teeth it'll need to be clipped. Although from my research most kids that have a tight frenum end up 'breaking it' on their own by getting hit in the mouth. Since I have three VERY rough little boys, this is a distinct possibility :)

Dentist

Austin did great yesterday. I was so surprised. Of course they have a tv right above the dentist chair so it helps take their mind off everything. He has one 'soft spot' on a molar and his front bottom teeth are slightly loose, but other than that, he did great.

And just because I am so crazy, I scheduled an appointment for the twins this morning. They happened to have a cancellation. I am a glutton for punishment. I hope they do as well as Austin. Of course they didn't have the bad dental experience to taint them like Austin did. Keep your fingers crossed for us.

Winter has finally arrived. We are in a deep freeze...below zero wind chill. I really don't enjoy this aspect of the Northeast. Here are some pics of my bushes after Monday's freezing rain. Looks pretty but really not good for the plants. And then this morning I was out with the dog and I hear this huge crack. So loud it woke the neighbors up. I know it emanated from my deck, but I didn't see anything happen. I can only assume the boards were heaving due to the extreme cold.

A Sweet Respite

I think I finally have found some time to write a post. Generally the end of my work year is kind of slow and most of the engineers are out for the Holidays, but this year, we keep getting hit left and right with work. By the end of the day I am exhausted and the last thing I want to do is go home and get back on the computer.

Last weekend Jeff helped his brother install a laminate floor at his girlfriend's new house while the g-friend and I went shopping. It wasn't supposed to work out that way, but at least my shopping partner was more enthusiastic then Jeff would have been. Sunday Jeff and I went to Melodies of Christmas. If you are local and have never been...GO! It's for a great cause (Albany Medical Center's Pediatric Cancer and Blood Disorder Center) and all the performers are fabulous. We had a great time and it helped put me in a festive Holiday mood...of course that mood was squashed as soon as Monday rolled around :)


Monday I got to go to Connor's pre-school for a cookie decorating party. I have only been in the classroom one other time and that was his first day of class. It was strange to see him interacting with his peers (and not just his brothers). He is 6-12 months younger than most of the other kids, but he seems to be doing really well. His OT in particular was commenting on how great it was to have him in her group sessions. They work with a lot of food activities...making and eating different tastes and textures and she said what a great role model Connor is because he will try just about everything. I truly don't know where that kid puts all his food...he's such a skinny boy....certainly doesn't get that from me :) But the cookie decorating was a really fun, if messy, experience. Poor Connor didn't want me to leave though. He thought that since I was at school then I was taking him home...he keeping saying 'don't like work, Mommy no work'. Poor kid! I also just got his IEP report in the mail and he's doing great!




Ben also just got a report card. He is also in a class with kids that are 6-12 months older than him. His Mema had a space in her 3's class and invited him to join in. As you can see below (click on the photo to enlarge) he is doing fabulous! And the areas that he is not doing so well in are really tasks that are beyond him at this point, so we are not in the least worried.





I will have to wait until I get home tonight to see Austin's report card, but I am guessing he is doing well also. AND, he's trying really hard with the potty lately. The doctor's keep telling me this is separate from all his other issues, but it is so frustrating. For the longest while he just had no desire, but the past week or two he has really been trying. Of course we keep using the fact that Santa is watching him. I guess we'll have to switch over to the Easter Bunny soon!

We have plans to see the Trans-Siberian Orchestra Friday...dinner with my brother in law's girlfriend's family on Saturday and then my dad's family on Sunday and then my in laws and my mom's family on Monday. It's going to be busy.

Well, I guess that's all...in case I don't get back on here...I hope everyone has a great Holiday...be it Hanukkah or Christmas or Kwanzaa. If you are traveling...be safe!

Jen

P.S. Great news...Sarah should be headed home today...click on the link to her site at left.