Friday, May 23, 2008

Big Sigh of Relief and a Return of Hope

So today I was sitting at my desk at work, head in the clouds, getting increasingly frustrated that we still haven't gotten the genetic results yet. I emailed Dr. V. again yesterday and she said she still hadn't received anything and would call the lab, but I hadn't heard from her yet today. So I emailed Jason at work, telling him how frustrated I am and how I wish I had the lab report in front of me so I could call them myself. Then it hit me...I may not have the lab report but I do have internet! So I googled Gene Dx Lab in Maryland and sure enough, their website popped up with their phone number.

I called and spoke to a receptionist, who looked in the computer and said that the results were still with the "report writing" department and to have my geneticist call Dr. R. for further information. Not satisfied with that answer I asked to be transferred to Dr. R. right away. The receptionist said "sure, but I doubt he could tell you anything you'd actually understand". I let that comment slide :)

Dr. R. answered the phone right away and I explained who I was and why I was calling. Within minutes he had the results for me. Are you ready????

MY MOTHER CARRIES THE SAME DELETION AS JOEY AND ME!!!!!!!

This is the best possible news we could have received, and we didn't expect it at all. The reason it is such great news is that it tells us that this deletion has already been passed down from a mother to a child (my Mom to me) with no ill-effects. Therefore, Joey DOES NOT have Angelman Syndrome! The deletion means absolutely nothing, it's just an incidental finding in our bloodline not related at all to Joey's issues. So this means Jason and I can have more children!

Dr. V. has no idea that we already know this information, so we will await her phone call. I'm sure she will likely want to see us one last time to review what these results mean, but it's already been explained to us so many times what each possible result would mean so I am pretty confident that we are now done with genetic testing. Perhaps in another 5 years there will be advancements in genetic science that will allow for even more deatiled testing, but for now we are DONE.

I will post more once we've spoken to Dr. V. but for now I hope everyone has as great a weekend as our family will :)

- P, J & J

Saturday, May 17, 2008

The Results are in...Almost.

We received this email from Dr. V. yesterday:


Hello,

I checked again with the lab in the US and they say they have just finished the testing on Joseph's grandparents. The results are now being checked and the report is being written, so I should have something to report to you by the middle to end of next week. I think Monday is a day off in the States too, so they won't have anything for me on Tuesday. I'll let you know as soon as I get something from the lab.

Regards,

Dr. V.


So it looks like our wait is almost over!

I also managed to get a hold of' Dr. M.'s nurse for the results of Joey's EMG and Evoked Potentials tests, both were normal. Yay!

On a different topic, Joey had a physiotherapy appointment on Thursday and we were given 2 new pieces of equipment for Joey to use for as long as he needs them, a walker and a stander. The walker is pretty intimidating-looking, very clinical indeed. Joey's PT referred to it as the "Green Monster". I'll take a picure of him in it sometime this weekend. I was worried he would protest as soon as he got in it, but he didn't. He just kind of stood there and explored this contraption he was in, but there were no tears. He 's not actually walking in it yet, it'll probably take some time before he gets the hang of it. The same thing happened with his Jolly Jumper..the first time we put him in it he just hung there, not really sure what to do but not entirely unhappy about it. Now he's an old pro and jumps around like crazy. I'm sure in a few weeks he'll be walking all over the place in the Green Monster, but for now it's good that he's putting pressure on his legs and building up some muscle tone in preparation for walking. I hope walking comes sooner rather than later, my back is killing me! But I'm also excited for Joey to have even more independence and be able to get where he wants to go. I think we'll have to buy some baby gates soon!

Enjoy your long weekend :)

P, J & J

Thursday, May 15, 2008

Another Day, Another Neuro Consult

Yesterday was our 4th trip to Sick Kids in Toronto in as many months, this time to meet with our 3rd neurologist, Dr. M. Dr. M is a specialist in Angelman, more specifically the seizures associated with Angelman. He is also heavily involved in genetic research, apparently he spends less than 20% of his time in a clinical setting with patients, the rest of the time he is conducting research studies.

When we first arrived the place was packed and the receptionist asked me"did you not get a call advising this appointment had been cancelled?" I felt like saying "of course we did, we just felt like taking a 1.5 hour drive to downtown Toronto to hang out in your overly crowded waiting room" but I managed to control myself. So despite this appointment being cancelled they squeezed us in with Dr. M., who was immediately confused by our situation. his immediate reaction after looking at the lab report we brought with us was that Joey had a deletion in the UBE3A gene, and therefore has Angelman. We explained what we could about all of the confusion we've experienced in the past few months and he immediately got on the phone and called Dr. V. directly for clarification. After speaking with her he started to get a better idea, but stillwasn't convinced so he went to this amazing website, http://genome.ucsc.edu/ , to look up the UBE3A gene and find exactly where the breakpoint was in the gene. It was quite an amazing thing to watch, and his explanations have been the most clear we've received to date.

Basically, he reiterated what we already know, that it's still unlear what the significance of this deletion is. He wants to wait to get my parents test results back, and if they say anything other than my Mother also has this deletion he would like to meet again. He says that current tests wouldn't be able to further define the significance of the deletion in this case, but that he could hook us up with a research study somewhere that would be interested in looking into it further.

The one thing we forgot to get was the results from Joey's Evoked Potentials and EMG tests 2 weeks ago, so I'll be calling back today for those. I imagine they're normal, or else someone would have contacted us sooner.

Apparently Dr. V. told Dr. M. that she was going to call the lab yesterday and find out where they're at with my parent's tests and she will follow up with us.

So more waiting, as usual. The good thing is that as of right now we do not have any further trips to North York General or Sick Kids scheduled...YAY!

P, J & J

Saturday, May 10, 2008

Lessons from Joey

This will likely be a 106-part post, with new installments regularly as long as Joey is a part of my life. I keep saying how much he has taught me in two shorts years, and that I am a different (and better,I hope) person for it. So here is installment number one.

"Retard" - A pretty common word, used often as slang to describe others or oneself when they feel that person is acting slow, or not understanding something they should. "Retarded" - A way of describing something that doesn't make sense, that's wrong, silly, backwards. If you have never used those words I congratulate you for being a very sensitive person. As ashamed as I am to admit it, those words used to dominate my slang vocabulary, going all the way back to grade school. It may be a generational thing, like "groovy" was a common word in the sixties. Never once did anyone call me out for the use of those words, no one ever said "hey, I find that hurtful" or "my cousin is developmentally delayed, that's mean". Not once. Not that I consider that an excuse. Not having anyone in my family or circle of friends that experinced and type of disability I was immune to how hateful that word is.

Since having Joey, that word stings. I rarely say anything because I was one of the worst offenders a few years back, and I feel like a hypocrite saying anything now. I can't describe how it makes me feel to hear it used inappropriately, but this amazing 18-year-old high school student can articulate it beautifully for me:

http://www.youtube.com/watch?v=CoqaNG0Ozqc



The most amazing point he makes is this: We don't use racially or religiously derogatory terms, and these are groups of people capable of defending themselves, and therefore have fought long and hard to have eradicated the common and acceptable use of some of the most hateful words in existance. However, the jokes and derogatory comments towards the disabled are not looked upon the same way, they are not as unacceptable, and sadly this is the one group of people that cannot defend themselves.

So we'll just add this to the growing list of things Joey has taught me...the word "retard" as slang no longer exists in my vocabulary. I am trying to become more sensitive to other terms, assumptions and generalizations that other groups of people may find hurtful, because I would never want to purposely make someone feel the way I do whenever I hear the word retard.


So there's my thought for the day :)

On a completely different topic, Joey was weighed on Monday and gained a whole pound plus an ounce! Mealtimes have definitely reverted back to the old days of pudding, yogurt and PediaSure from a bottle, but I'm becoming more and more okay with it. He's shown repeatedly that when he's hungry, he'll eat. He's energentic and growing, so we just need to relax and go with the flow.

That's all for now! To all you mothers out there have a wonderful Mother's Day tomorrow!

P, J & J

Sunday, May 4, 2008

More Florida, some Sick Kids and a New Car!

Well, we made it back from Florida and jumped right back into the craziness that is our life. Joey felt well enough by the Thursday of our trip for us to make it to the Tampa Aquarium, which we all really loved. It reaffirmed our belief that Joey loves water, fish and all things related. Here are a few more pictures...we did a fake photo shoot on the beach the evening before Joey left, I just couldn't bear the thought that Joey hadn't spent any time there so we took him out in his jammies just to shoot some photos!























Joey left on the Friday with Grandma and Papa, so Jason and I had a whole 30 hours to ourselves before we had to head back on Saturday. We actually managed to put on our bathing suits for the first time and make use of the pool which was heavenly. On the way home I started feeling ill but hoped it was just the nasty airplane air making me congested, but by Sunday morning it was clear that it was my turn to be sick. Joey and I are both fine now and it's truly a miracle that both Papa Roy and Jason managed to avoid getting sick. Unfortunately for Joey, his illness caused a setback with his eating, we're back to PediaSure out of bottles and mostly chocolate pudding and strawberry yogurt as snacks. This usually happens after he gets sick, so we're hopeful that in time he'll get back to eating as well as he was before our trip.



Last Tuesday we had a fun-filled day of tests at Sick Kids in Toronto. We had been dreading this for months. In the morning Joey had to be sedated for an Evoked Potentials test, which took over an hour. Basically they are testing the sensory nerve pathways from the brain to the muscles to make sure the signals are travelling as they should. So once he was asleep it was a bit like an EEG....little electrodes placed all over his body and then little electrical currents were transmitted to different spots. We don't know the results yet as the test was conducted by a technician, not a doctor. And of course I have a picture and video, because I'm weird like that!




In the video you can see the tests they did on his arms and hands. The electrical current is being sent by the little bar attached to his wrist, which makes his fingers move like that. Looks like everything works okay! And if you turn your volume up you can hear Joey snoring through the last little bit of his cold :)


video

The second test in the afternoon, the EMG, had us worried. We were originally told it would be rather invasive, little needles into his muscles while awake. We were pleased to find out that they were doing it differently and it didn't involve needles. It looked similar to the test in the morning in that they were transmitting electric pulses to the muscles, and it was completely painless. It took all of 5 minutes and Joey actually found it funny. What a relief! This test was performed by a doctor, who told us right then that the test results were normal and his muscle bulk, although a little low, was perfectly normal give how skinny he is.

We're meeting with a new Neurologist, Dr. Minassian, at Sick Kids on May 14th, and we should get the results from the Evoked Potentials test then. Our previous neuro referred us to this neuro when the first genetic test came back showing Joey had Angelman, as he is a specialist in this syndrome. Apparently he is a neurologist and a scientist in the field of genetics, so he should be a great resource.

Aside from all of this, Joey is doing extremely well. He has just started to pull himself up to kneel for short periods of time, which is thrilling. His communication, although he's not using words, is improving slowly as well. He has become a bit more whiney lately, and we think he's doing that to tell us something, but as of yet we haven't done very well at interpreting. His name finally came up on the waiting list for speech therapy through the hospital, so we're going for an intake next week. We've had a private speech-language pathologist for several months now that we've been paying for, but I don't think we'll stop seeing her since she's been really great.

As for the genetic tests, now word yet. The waiting is making me crazy! Both of my parents have now provided blood samples which have been sent to the US, but I haven't heard anything. I'm going to give it another week or two before I start my usual routine of weekly calls/emails asking for someone to look into it. It was only supposed to take a week or two once both samples were in hand.

And finally, our little bit of excitement is that we just got a new car yesterday! Both of our cars are 11 years old, and with all of Jason's commuting we knew this day would come. His car has finally reached the breaking point...it has an electrical problem and in order to start it I have to "bump" it with my own car on the street so he can get moving and jump start it. Very classy, I must say, I'm sure the neighbours enjoy watching our two clunkers pushing each other down the road every morning. So yesterday we got ourselves a 2009 Pontiac Vibe, my very first new car! We pick it up on Thursday and we're very excited.

So that's it for now! Hopefully I'll have time to update more regularly so my posts don't turn into novels :)

P, J & J