Tuesday, February 27, 2007


Congrats to Em on making the President's list for the fall semester. Jeff did also, which is weird because this is the frist semester he didn't get two A's. He got an A and a B. Every other semester he got two A's he didn't make it. Figure that one out. Regardless...congrats to both!

Congrats to Tom and Mandi on their engagement.


I'm a Bad Mama. Last fall I just let everything slide. I'm not sure why or if it was laziness, the insurance or the fact that I am sick of having the kids gets more and more tests. When insurance denied both the MRI and the EEG in Boston, I didn't even fight it. So as the date for an ERG approached, I let that go also.

The NYC neuro gave me hell about it last fall. That annoyed Jeff, but she's right, ESPECIALLY about the ERG. This is the test that verifies that the Vigabatrin isn't affecting his peripheral vision. Of all the tests to let slide, that is NOT the one. We have always known that there is a potential for Austin to lose his peripheral vision. We didn't like the idea, but Vigabatrin is the only drug that works for him. We chose to walk the fine line between seizure control and side effects. Once the peripheral vision is gone, it's gone...bye bye, sayonara...not coming back.

Since I have never known another child to have this problem, we've kind of pushed the thought to the back of our minds. Then NYC neuro reminded me again last Friday that I need to get it scheduled. I called the neuro-ophthalmalogist in Boston. She can't fit us in for an ERG under anesthesia until OCTOBER. They are supposed be every 6 months. His last one was done May 2006. Do the math, not only did we miss the 6 month mark, but we are blowing WAY passed the 12 month mark also, almost to 18 months. NYC neuro feels we can just get visual field testing done, but the local peds ophth said no way, no how, only an ERG will suffice. The scheduler for the Boston neuro-ophth said if the procedure could be done without anesthesia, then they can fit him in sooner. Granted the last time we had this done under anesthesia it was a nightmare, but I just can't imagine doing this to him without it. The Boston neuro-ophth said they put electrodes on the eye and send stimuli. They then test the eye's response to the stimuli and this tells them something. I'm not sure I would want to have this done without anesthesia.

Not sure what we are going to do...maybe keep the October appt and see if we can find someone local to do a cursory visual field test? I have another message in to NYC neuro. We'll see what she has to say.

Monday, February 26, 2007

Barbara posted this...

well that was rly hard to do since pretty much everything i had to click on was in spanish...im having a lot of fun here its so nice i went to the beach this weekend there farm as they call it (its more like a lake house) is right on the ocean they have a pool in the back yard but right outside the fence is the beach and then the ocean it was so pretty we went swimming and when the waves come we have to dive underneath them but it was rly scary cuz a lot of people drown n the waves rushing down on u is rly creepy so i went back up to shallower water but it was beautiful and at night we sat on the beach and watched the waves in the moonlight at we watched the sun set over the moutains i have great pictures and last week we went to see arenal an active volcano and we went to the hot springs they were so nice we sat at a bar that was in the water like the bar stools were in the water i had a bahama momma it was so good today we were supposed to go on a tour of san jose but we had to move that to wednesday because there is a riot in the city today and tomorrow we are going to isla tortuga which is supposed to be really beautiful....today after school im going to souveneir shops hopefully there will be a lot of stuff cus i havent bought like nething yet....n later tonight everyone is going to this girls house for chalupas oh and last night well about 430 this morning there was an earthquake it woke me up it scared me so bad cuz i was dreaming n then the whole house shook and it woke me up and i looked around the room and i couldnt remember where i was at first but then i remembered but it was annoying because so many dogs were barking after that not only our dog but there are a lot of strays too and they wouldnt shut up....i miss everybody a lot but i gotta go ill try n write later if i can but i think this is my last day at school and i doubt i can get on here at my house cuz i cant get to my email and i dont know the address but ill see what i can do byebye

Neuro Appt

Well, I think Friday's appt was the quickest ever. We were in and out within about 25 mins. She hadn't had a chance to view the EEG yet and she didn't take the time to load the MRI scans. She said she will look at them today and get back to me. She is anxious to see Connor next month and explore the TS issue further. She did decide to up Austin's Vigabatrin also. She feels that based on our experience with him and regardless of the EEG, that we should up the dose. Jeff and I are COMPLETELY FINE with that. Besides, I dreamt last night that he was having an EEG and there was spiking. Seeing as I RARELY remember my dreams, I am trusting this one.

Jeff and I went on a date Friday night and I got to sleep in on Saturday since the kids were having sleepovers. It was a nice start to a quiet weekend!

Friday, February 23, 2007


I just spent the better part of an hour looking at Jeff's brain...yes he has one! And it wasn't his brain, per se, but his MRI scans from last week. The results said they were negative for his age. One thing I have learned is brains are really cool. The second thing I learned is that I don't have a clue how to read an MRI. My dad thinks I should go to school to be a radiologist. I'll try and squeeze that in in my spare time.

So I can't read the MRIs. i am hoping the NYC neuro knows what she is looking at. I am bringing them with me to the appt today. Until then, here are some pictures for you. The one on the left is with gado and the one on the right is without. I am trying to figure out what the white dots are on the edges of the brain. This is as seen from both slices.

Thursday, February 22, 2007


I meant to put in a story about Ben below the photo and completely forgot. Ben is our handiman and ALWAYS has to help...whether it's fixing something, or cleaning something, he is always there. He's also the mischievous one and our jokester.

Yesterday after I got home with the twins, I took the dog out. I stand on the deck right near the kitchen window. I can hear the kids, but I can't see them. I heard the junk drawer open and close. I wasn't too worried because I had removed the scissors a few weeks ago after I realized they could get to them.

I brought the dog in and started getting dinner ready. It was about then that I realized the house was REALLY quiet. I went in search of my little darlings. Austin's door was mostly shut, I knew they were watching Thomas the Tank Engine, but when I opened the door I noticed Ben shove something behind his back and flash me this dazzling smile. I guess the smile was to disguise the fact he was obviously doing something he knew he wasn't supposed to. Then I saw that Scoop (from Bob the Builder) was on his lap, belly up, with the battery compartment exposed. Then it hit me. There is still something in the drawer that Ben is very aware of! Our mini screwdrivers for changing batteries in toys.

The toy wasn't making noises like it is supposed to, so Ben decided HE was going to fix it! What are we going to do with him?!?

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.

Wednesday, February 21, 2007

How Frustrating

Jeff had a bunch of tests done Friday to look for signs of Tuberous Sclerosis (TSC) in him. We know he has the gene mutation like Austin. But he's never been fully checked for tubers.

The imaging group said his doctor would have the results Monday or Tuesday. We haven't heard anything so I just called the doctor's office. We are, of course, anxious. Come to find out, he's on vacation all week. *sigh*

I think I might call and see if another doctor can release the results.

A Hint of Spring

What a pleasure to awake to temperatures of 35 this morning....and we are supposed to get to nearly 40 today. What a welcome relief from the subzero wind chills we've been having!

Barbara is doing good in Costa Rica.

My Dad is home and doing well.

Nothing else new.

Monday, February 19, 2007

Update on My Dad

They found 6 blockages, one at 90%, one at 60% and 4 at 20%. They opened and put stents in the two greater blockages. The doctor feels the others will resolve with diet and quitting smoking. Here's hoping...

corrections: the 90% blockage was in the artery that runs behind the heart. They opened and stented that one. The 60% blockage is in an artery right near where a vein join. The dr did not touch this one for fear he'd cause a blockage in the vein. There was a third artery that had 5 20% blockages. Again, these were left alone to resolve by med and diet changes.

Dad is doing good and hopes to go home Tuesday.

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!

The Rest

Now the rest of the weekend wrap up.

My cousin's son is still in the hospital. He had surgery to remove part of his intestines. He has Hirschsprungs Disease, which is where the intestinal tract lacks the neurons that spark the muscles to move the waste. He still isn't pooping after this latest surgery. We hope he's feeling better soon.

My niece Tiffany is off in Spain on a class trip and my sister Barbara is off in Costa Rica for a class trip. I am just the slightest bit jealous. I don't even have a passport, let alone a stamp to go in it! But I hope they are both having fun and I wish them safe journeys.

The not so good part to the weekend is that my Dad is in the hospital. He was admitted Friday night after experiencing chest pain. The doctor said there was a 50% chance that he had had a heart attack. They have scheduled a cardiac catheterization for today. The doctor thinks there is an 80% chance he will have to do some type of repair procedure after that...perhaps a stent.

Enough for today.


Lots to write about, but I wanted to share the best first.

I have been meaning to post on this subject for a week or so, but never found the time. The subject is potty training and my intense frustration with it. We have been working with Austin off and on for about 2 years. We never really got much of anywhere, even though we had some sporadic luck about 6 months ago. At Christmas I put my foot down and we started bribing with anything and everything. I talked to the his pediatrician and she just said he will when he's ready. All along I kept envisioning my boy starting kindergarten in a pull up. It took about 2 weeks but we got him pee trained. He was only occasionally having accidents.

At the twins 3 year check up in early Feb their pediatrician asked how potty training was going with the twins. I tersely replied that I'd work on the twins once I got my 4 year old trained. She didn't seem impressed that my older son still wasn't trained.

The BM was a much bigger issue. He won't tell us he has to go, he keeps telling me he's scared, we trying reasoning with him and talking it through. We told him it was 'his job'. We told him no more sleep overs at Nana and Big Papa's. We even brought his favorite special ed teacher in on the bribery. She is offering ice cream sundaes at HER house. He only gets to go to HER house when he does something extra special. I even told him I would willingly put a pull up or diaper on him just to poop, but he would NEVER tell us, just sneak off into a corner and go in his underwear. It is so much more difficult to clean up. Finally last week I had a near breakdown regarding the pooping. As I was trying to clean him up a bunch of poop fell on the bathroom floor. The horrible mother that I am gave him paper towels and made him pick up the poop and clean the floor himself!! He was NOT happy. He started to hold it so as not to upset me. I felt I had failed.

Then on Sunday...a breakthrough. We had people over for the Daytona 500. My kids were in rare form...I think someone slipped them some sugar. Chaos was reigning. Time outs were being handled out frequently. I think we pushed my neighbors baby planning back a few years.

Jeff and I knew our pizza would be arriving shortly so we were trying to clean the kitchen and clear space. The next thing I knew I looked over to see Austin going pee. Then I heard Ben say he wanted to go too. Well I am NOT going to nix that. So Ben climbs onto the big potty and Austin says he wants to sit on the potty chair. I went back to the kitchen. I knew they were playing in there by the volume level, but I was busy and let it go. A few minutes later I walked over to check on them and Austin was yelling at me to leave him alone. I had a feeling things were 'going' well. I told Jeff so. I gave it another minute and went to check on him again. And he was all excited and said he went poop. I screamed and cheered and Ben screamed and cheered and we got him cleaned up and our friends all screamed and cheered. He was so excited and so proud and he said 'Mommy I'm not scared anymore'. We called Grandma Sandey, and Nana and even Miss Nancy. They all screamed and cheered for him. I am so excited and Austin keeps asking if we are proud of him (which we are)...now I just have to pay up. I owe him an awful lot of gifts. He seems to remember EVERYTHING I have ever offered as a bribe :) I might just go broke, but if we truly have had a breakthrough, it'll be well worth every penny.

Happy Birthday

Grandpa- just wanted to wish you a Happy Day!

Miss you, hope you visit this summer.

Friday, February 16, 2007

Snowy Days

As much as I don't like snow, I know we are going to get it and I respect it and the danger it presents. I mean, after all, I do live in the North East. And this is our first real snowfall of the season, for us anyway, so I can't complain, BUT you'd think the plows would know what to do with it. We had plenty of warning, yet 36 hours post storm and the roads are a MESS. There is no excuse for it either. Just another example of our tax dollars hard at work.

It took Jeff over an hour to get home from the hospital. he expected another hour or two of snowblowing, but our neighbor was kind enough to do it for us.

Locally we got about 20 inches. Not the worst ever, but it is the most we have seen in a single day since Feb 14, 1914. Ironic, huh?

Poor Karat couldn't even squat. We...well Jeff...had to dig a spot in the yard for him. And he's a golden retreiver. He's not a small dog!

Here's a peek at our front yard. It could be and has been worse.


I don't know what to make of this trip. I am glad it's over though.

First, the accommodations. No single room, well we were alone, but it's designed as a double. It was dirty, even though they had supposedly just cleaned and mopped. The paint was chipped and the ceiling had previously leaked and had plastic taped to it. And I didn't have a 'nice' lay flat chair, I had a recliner. In Boston you get single rooms, with windows into the hallway and nice chairs and clean rooms.

Second, the food. Lunch was oven crispy chicken, boiled potatoes, steamed carrots, a tossed salad, a fruit cup and coffee. Dinner was meatloaf, mashed potatoes, a rock hard dinner roll and hot tea. He's 4!!!! So they finally gave me a menu for breakfast. I ordered oatmeal, a bagel, fruit cup and choc milk. He got pancakes, cheerios, white milk and OJ. Um hello, what was the point of filling out a menu?? In Boston you just call and order whatever you want and within 30 mins it's there.

Third, the EEG. He hates getting the leads put on and off, but once they are on, he's fine. He screamed the entire time they were put on and the entire time they were taken off. My cousin could hear Austin down the hall. And I hate to physically restrain him. We met with the neuro on Wed am and I wasn't impressed. He didn't know how long we were supposed to be there. He wasn't cognizant of Austin's history. Yet, he had been the neuro to approve the stay! You would assume this meant he read the case history. Thursday morning he came in and said the EEG looked great, great sleep architecture, great daytime activity, all around great. I want to be happy, really I do, but I just have so little faith in the local hospital. He has had probably 6-7 EEGs done here. All the early ones were abnormal, which they said, but they missed the hypsarrythmia. As he got better and was seizure free, they said the recordings were normal, but, follow up EEGs in Boston were always abnormal. I know EEGs can change on an almost daily basis, but coupled with his regressions and attention issues, I really didn't expect his EEG to be completely normal. I don't know what to think. I am ordering copies of the recordings to be sent to Boston and NYC. We meet with the NYC neuro next Friday, so I should be able to get her input then.

Until then, here are a few pictures from our stay.
Lunch...he ate the fruit cup. Watching movies and playing with cars.
Our play dough houses. Good thing I am not going to be an architect like Cindy and Barbara!
Oh yeah, forgot to mention that the Looney Tunes didn't show up. They are re-scheduled for Friday. Cousin Aaron should get to see them though. He's expected to be in until Sunday or Monday. We did get to see a big Newfoundland dog named Yogi on our way out. He was just beginning his round of visits.

Tuesday, February 13, 2007

Fun at the Hospital

My cousin's son is at the same hospital, awaiting surgery for Hirschsprung's Disease. She just called and let my Gram know that the Looney Toons characters are scheduled to be on C7 tomorrow at 11AM. I really hope they don't cancel because of the weather. This would be such a treat for Austin.

EEG and Lots of Snow

Austin's EEG is scheduled to begin tomorrow morning. We need to be at the hospital at 8am. Unfortunately this will coincide with the snowstorm we are expecting. The last report I heard says 24+ inches. Considering we have only had about 7 inches so far this season, we are due...but why does it have to be tomorrow???

Friday, February 09, 2007

Another Birthday

Happy Birthday Jeff....I love you more every day.

Wednesday, February 07, 2007

Evaluations are DONE!

I can breathe a sign of relief. Austin's speech evaluation was done on Tuesday and the Psychological Evaluation was done today. It's so hard when the therapists ask what is wrong and why the eval is being done, because at first glance he is a bright little boy. But something is off...what that something is, I don't know and I don't know how to describe.

He did great yesterday for the speech part. I didn't request the speech eval, but the CPSE board did. I don't have concerns about his expressive or receptive speech, but I did have some concerns about the articulation of his speech. He can't make the /sp sound. I have tried to encourage correct pronunciation, but he just can't. There are a couple other sounds that are off a little, but no more than a typical child. At least that's my opinion. On the three areas he was tested in, he passed all three. The average range is an 85-115. For receptive speech he had a 102, for expressive he had a 114 and for articulation he had an 86. She then pointed out that only 44% of males aged 4 yrs 5 months have mastered the /sp sound. I was relieved. I wish they printed that info somewhere.

The psych eval today was MUCH longer and more difficult. If not on him, then on me. It's so hard to silently...key word, silently...sit there and not help him. He started off well, but the attention issues became quickly apparent. He has trouble staying on task. You'd think it would be if the subject matter were difficult, but they were subject and topics that I KNOW he knows. For one task he had a page of geometric shapes. Within those shapes he had to draw a specific symbol (2 parallel lines, 2 vertical lines, a plus sign or a circle, as directed). He made it through about 3 shapes and then just started scribbling all over the page. This right here is my MAIN concern about him going to kindergarten next year. 3 hours later when the test was complete, she found that once again he was in the average range. However, his adaptive skills are low (which I expected). She feels she can make a clinical judgement request to get him some special education therapy.

All these average scores are great, but now I need to find past evals and make sure he isn't dropping on those averages. That will be key.

More Birthday Wishes

Happy Birthday to my Mom who turns another year older and to our IS friend Cameran who is 2 today. We hope you both have a happy, healthy year.

Tuesday, February 06, 2007

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!

How? Why?

I got a call from a neighbor last night. She told me she had something bad to tell me. Of course I panic and think something has happened to someone in their family. We are all good friends. Instead she asks if I remember the Riley family. They lived 2 houses from us and directly next door to them. She says that the neighbor across the street got a call from a reporter on Monday asking about the Riley family. We googled and found this. Just got this article from another neighbor.

The Riley Family was not a normal family. We all felt there was something off. We even knew that mom was on medication and that there were signs that she wasn't treated well. But they had three little kids Kate, Michael and Julia. Julia was a few months older than Austin so we talked frequently about how they'd be in class together, etc. The neighborhood welcomed them, but we were never really comfortable with them. I vividly remember the summer of 04. My friend's family had a summer party and invited all the neighbors. My twins were only about 8 months and Austin was just about 2. The three Riley kids were there as well as a bunch of others. Michael, who was 4 at the time was jumping off the diving board repeatedly as his dad sat on the edge of the pool watching. One of the times Michael jumped and was having difficulty. I watched in horror as Michael went under three times while trying desperately to get to the edge. I finally leaned out over the pool and yanked him out of the water. Mind you I was holding one of the twins at the time. It wasn't a smart thing to do, but I truly feared for this child. The entire time, his dad sat and watched, assuring us that he had had swim lessons and he was fine. I never really felt the same about the family after that incident and a few months later they moved. The neghbors still talk about the family on occassion, but it's not fond memories.

However, I never expected this. You read stories like this all too frequently, but you never expect to have a connection to it. It leaves me asking how could anyone do this and why would they do it? I can only imagine it was his last way of controlling and dominating his wife. She may not have been the best mom, but no mom deserves this.

My prayers go out to those three little Angels and only hope they are at peace.

Monday, February 05, 2007

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!

Saturday, February 03, 2007


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.