It doesn't take much!
- P, J & J
Saturday, July 12, 2008
Lessons from Joey - Part 2
It's a little but very valuable lesson...you don't need expensive toys to have a great time! Here's a few video clips of Joey getting hysterical over an air-inflated frog that we use as an ottoman in his room:
Wednesday, July 9, 2008
Case Closed
Today we made another trek to Sick Kids hospital in Toronto to meet with Dr. M. to review the latest genetic test results. He has basically told us that since he is a neurologist who specializes in epilepsy and Angelman Syndrome he doesn't feel it's necessary for us to continue to see him. At this time all of the neurological tests available have been performed with normal results, so he has referred us back to our pediatrican for follow-up. This brings some relief to the hectic schedule we've been dealing with over the past few months...now our file is closed with both the geneticist and the neurologist. It's a welcome break from the search for a diagnosis, and after what we've been through over the past few months think it has taught us to be happy for what we DON'T know and that having a diagnosis will not change Joey and what he is capable of. We have to focus on the positives; Joey has never regressed or lost any skills and he is HEALTHY. Going to Sick Kids so often in the last little while, seeing children with no hair from chemo treatments, and little babies who can't breathe on their own...well, it's enough to make us thankful for our healthy little boy. No abnormal tests, no medications, no surgeries...these are all amazing and wonderful things. So our quest to label Joey, which is something I think all parents of a special needs child go through, is over. His official diagnosis of "Hypotonic Cerebral Palsy" will remain as is, which we've always known was a very generic label that will enable us to access services and funding to help Joey develop and grow.
So on to our next battle....Joey being denied access to nursery school because "his needs are too great" in order to participate in activities with other kids his age. At the time this happened we were right in the thick of the whole Angelman confusion, so I didn't have much energy to deal with it, but as September looms and it becomes increasingly obvious that Joey doesn't spend nearly enough time around other children and is actually frightened of them, we know now that this is a priority. I have placed some calls to nursery schools to confirm this is what they're telling me, but I know that I understood correctly the first time. I was told that Joey's needs are too complex (not being able to walk, not being potty trained, not self-feeding) in order for him to enroll. I completely understand the limitations of staffing and the safety issues, so I offered to provide a one-on-one mediator to attend with Joey, at no expense to the nursery school. The answer was still "no", because if Joey had his own adult to work with him it would be too many adults, and if they did it for us they'd have to do it for everyone. Ummmm...yeah, and what's the problem with that exactly?! So calls have been placed, I'm asking for things in writing and will be taking this to the Human Rights Commission of Ontario and will lodge a complaint if necessary. NO ONE WILL TELL ME MY CHILD CAN'T DO WHAT OTHER KIDS DO. Period.
On a much happier note, Joey also had his first encounter with the slide at the park. It started out a bit rocky but ended positively!
He wasn't too sure at first
And now that all of our gates are up and fully operational we haven't had any more Joey vs. Stairs incidents, thank goodness. He actually finds the gates amusing:
Other news:
Joey is now kneeling all the time, and can pull himself into this position himself. He will kneel at the coffee table or the couch and reach up to grab his toys.
His eating is on a little bit of an upward swing, but not much. In my never-ending search for high-fat-and-calorie purreed food to introduce to his diet I came across Macadamia Nut Butter at the health food store. Ten bucks a jar, it has TWENTY THREE grams of fat and TWO HUNDRED TWENTY calories in two tablespoons. So of course it is off limits to Jason and I! Joey has eaten it a few times mixed with pureed mango or pineapple and so far seems to like it. Sure beats peanut butter with it's measly 8 grams of fat!
We got a new stroller for Joey that supports proper posture so much better that we don't even need to use his special seat liner anymore! Joey's wonderful PT Jennifer checked it out on Monday at our last session and was very happy with how supportive the stroller is for him. And I like the funky red colour :) Pictures to come soon...
That's all for now. Hope you're having a great summer so far, we're certainly enjoying our first entire season with central air conditioning!
-P, J & J
So on to our next battle....Joey being denied access to nursery school because "his needs are too great" in order to participate in activities with other kids his age. At the time this happened we were right in the thick of the whole Angelman confusion, so I didn't have much energy to deal with it, but as September looms and it becomes increasingly obvious that Joey doesn't spend nearly enough time around other children and is actually frightened of them, we know now that this is a priority. I have placed some calls to nursery schools to confirm this is what they're telling me, but I know that I understood correctly the first time. I was told that Joey's needs are too complex (not being able to walk, not being potty trained, not self-feeding) in order for him to enroll. I completely understand the limitations of staffing and the safety issues, so I offered to provide a one-on-one mediator to attend with Joey, at no expense to the nursery school. The answer was still "no", because if Joey had his own adult to work with him it would be too many adults, and if they did it for us they'd have to do it for everyone. Ummmm...yeah, and what's the problem with that exactly?! So calls have been placed, I'm asking for things in writing and will be taking this to the Human Rights Commission of Ontario and will lodge a complaint if necessary. NO ONE WILL TELL ME MY CHILD CAN'T DO WHAT OTHER KIDS DO. Period.
On a much happier note, Joey also had his first encounter with the slide at the park. It started out a bit rocky but ended positively!
He wasn't too sure at first
"Who the heck are you???"
All smiles at the end :)
And now that all of our gates are up and fully operational we haven't had any more Joey vs. Stairs incidents, thank goodness. He actually finds the gates amusing:
Other news:
Joey is now kneeling all the time, and can pull himself into this position himself. He will kneel at the coffee table or the couch and reach up to grab his toys.
His eating is on a little bit of an upward swing, but not much. In my never-ending search for high-fat-and-calorie purreed food to introduce to his diet I came across Macadamia Nut Butter at the health food store. Ten bucks a jar, it has TWENTY THREE grams of fat and TWO HUNDRED TWENTY calories in two tablespoons. So of course it is off limits to Jason and I! Joey has eaten it a few times mixed with pureed mango or pineapple and so far seems to like it. Sure beats peanut butter with it's measly 8 grams of fat!
We got a new stroller for Joey that supports proper posture so much better that we don't even need to use his special seat liner anymore! Joey's wonderful PT Jennifer checked it out on Monday at our last session and was very happy with how supportive the stroller is for him. And I like the funky red colour :) Pictures to come soon...
That's all for now. Hope you're having a great summer so far, we're certainly enjoying our first entire season with central air conditioning!
-P, J & J
Tuesday, June 24, 2008
The Final Word, Genetically Speaking
We finally received the letter from Dr. V. along with a copy of the lab report on my parents' DNA tests. Here it is:
Dear Mr. & Mrs. L,
I am sending you a copy of the final CGH microarray analysis report on Joseph and the family. The array was done as a part of our search for an explanation of Joseph’s delays.
The laboratory reported a small missing piece in Joseph’s DNA, in a gene that causes a condition known as Angelman Syndrome. Mrs. L, you carry the same deletion, as does your mother. Your father does not carry this deletion. There is no one else in the family with the same issues as Joseph has.
The finding of this small deletion in Joseph’s maternal grandmother indicates to us that this is most likely a benign DNA variant of no clinical significance. Joseph DOES NOT have Angelman Syndrome. The rest of the microarray was normal.
We have not found a genetic diagnosis to explain Joseph’s difficulties. I do not know what the risk may be for you to have another child with similar problems in a future pregnancy. The risk based in population studies is 5%. There is no prenatal test that we can offer to check for these problems.
I regret that this has been such a difficult experience for you, with the hope/fear that we had a diagnosis followed by the finding that this is not significant. I do not have further tests to offer you at this time. I have not arranged a follow-up appointment for Joseph, but I would be happy to see him or to meet with you at any time, if you or your doctor feels it would be useful. Please call me if you have any questions or if you wish to have another appointment.
Yours truly,
Dr. V.
Our next step is to book a follow-up appointment with Dr. M, the neurologist we met with in May. The actual lab report states:
Interpretation of the significance of this deletion depends on the clinical presentation of the mother (me) since the deletion in her case is also of maternal origin (my mother). If the mother (me) is considered clinically normal, this deletion is likely benign and unrelated to the patient's phenotype.
"Likely" benign and unrelated. Not sure how I feel about that...is it likely, or is it a fact? Dr. M. seems to be more involved with the research side of things and I think he may be able to shed more light on this for us.
But in the meantime, this means we are done with Dr. V. One less hospital that we have to visit I suppose.
As for Joey, he is doing very well. His mobility has increased dramatically in the past few weeks, he is a VERY quick little "scooter". He can move at warp speed by scooting around on his bottom using his arms. So quick in fact that he fell down the stairs yesterday! I promise, we are not neglectful parents, and Joey is fine, but needless to say our home has become a "gated community". We've purchased and installed 3 gates in the house so this never happens again. Miraculously Joey is fine, not even one bump or bruise. I think this is one case where his low muscle tone comes in handy...he doesn't tense up like we would during a fall.
Pictures will be coming soon!
P, J & J
Dear Mr. & Mrs. L,
I am sending you a copy of the final CGH microarray analysis report on Joseph and the family. The array was done as a part of our search for an explanation of Joseph’s delays.
The laboratory reported a small missing piece in Joseph’s DNA, in a gene that causes a condition known as Angelman Syndrome. Mrs. L, you carry the same deletion, as does your mother. Your father does not carry this deletion. There is no one else in the family with the same issues as Joseph has.
The finding of this small deletion in Joseph’s maternal grandmother indicates to us that this is most likely a benign DNA variant of no clinical significance. Joseph DOES NOT have Angelman Syndrome. The rest of the microarray was normal.
We have not found a genetic diagnosis to explain Joseph’s difficulties. I do not know what the risk may be for you to have another child with similar problems in a future pregnancy. The risk based in population studies is 5%. There is no prenatal test that we can offer to check for these problems.
I regret that this has been such a difficult experience for you, with the hope/fear that we had a diagnosis followed by the finding that this is not significant. I do not have further tests to offer you at this time. I have not arranged a follow-up appointment for Joseph, but I would be happy to see him or to meet with you at any time, if you or your doctor feels it would be useful. Please call me if you have any questions or if you wish to have another appointment.
Yours truly,
Dr. V.
Our next step is to book a follow-up appointment with Dr. M, the neurologist we met with in May. The actual lab report states:
Interpretation of the significance of this deletion depends on the clinical presentation of the mother (me) since the deletion in her case is also of maternal origin (my mother). If the mother (me) is considered clinically normal, this deletion is likely benign and unrelated to the patient's phenotype.
"Likely" benign and unrelated. Not sure how I feel about that...is it likely, or is it a fact? Dr. M. seems to be more involved with the research side of things and I think he may be able to shed more light on this for us.
But in the meantime, this means we are done with Dr. V. One less hospital that we have to visit I suppose.
As for Joey, he is doing very well. His mobility has increased dramatically in the past few weeks, he is a VERY quick little "scooter". He can move at warp speed by scooting around on his bottom using his arms. So quick in fact that he fell down the stairs yesterday! I promise, we are not neglectful parents, and Joey is fine, but needless to say our home has become a "gated community". We've purchased and installed 3 gates in the house so this never happens again. Miraculously Joey is fine, not even one bump or bruise. I think this is one case where his low muscle tone comes in handy...he doesn't tense up like we would during a fall.
Pictures will be coming soon!
P, J & J
Monday, June 2, 2008
Need a New Name
I guess the name of the blog is now defunct, so it's time to come up with something new. I started this blog while Joey was still going through lots of tests, and named it The Hypotonia Chronicles, since that was his main symptom. Then we got the Angelman diagnosis, so I changed the name, and now that it's confirmed that he does NOT have Angelman I guess it's time for a new name. I'd like to come up with something that I'll never have to change again, because every time I change the name it changes the web address too, which is a pain for people to try and find it. Let me know if you have any good suggestions! If I go with my Grandmother's nickname for Joey it might be a little religiously offensive, since she refers to him as "The Second Coming" LOL :)
So far we have yet to hear from Dr. V, despite the fact that she has no idea we got the results directly from the lab. I'm a bit disappointed, but am trying to give her the benefit of the doubt. I emailed her again on Friday asking if she'd received the written report, but no response as of yet. Now I have this niggling little feeling that perhaps the results weren't clear-cut and she's doing some more behind-the-scenes investigation. Ah, how my mind wanders! She's likely just really busy and hasn't had time to get back to me.
Joey is doing really well these days. He now bounces himself up to a kneeling position, which is great. He has also gotten extremely FAST when scooting around on his backside, he's like a rocket! It's definitely time for some baby gates as he's made it to the top of the stairs many times now, but we're never far behind. All of our stairs are hardwood though, one set ending on ceramic tile, so I'd rather not wait for that one time I can't get to him fast enough and over he would go.
Still no words as of yet, just lots of baby-like noises. We now have a one-on-one worker, Nicole, that takes Joey every Thursday afternoon to work on speech, she's wonderful and Joey loves her! I do feel that he is understanding more, and most recently he learned the word "hug"...when he is on my lap or sitting beside me I can just say "hug" and he lays his head on my chest while looking up at me with his big brown doe-eyes and a smile. It melts me!
Yesterday was the first of the month, which means we marked another month of Joey's life with a picture of him with his bear to show how much he's grown. A whole 26 months old, unbelievable. So here he is, with a shot from when he was 13 weeks old, just for comparison. He's such a little boy now!
So far we have yet to hear from Dr. V, despite the fact that she has no idea we got the results directly from the lab. I'm a bit disappointed, but am trying to give her the benefit of the doubt. I emailed her again on Friday asking if she'd received the written report, but no response as of yet. Now I have this niggling little feeling that perhaps the results weren't clear-cut and she's doing some more behind-the-scenes investigation. Ah, how my mind wanders! She's likely just really busy and hasn't had time to get back to me.
Joey is doing really well these days. He now bounces himself up to a kneeling position, which is great. He has also gotten extremely FAST when scooting around on his backside, he's like a rocket! It's definitely time for some baby gates as he's made it to the top of the stairs many times now, but we're never far behind. All of our stairs are hardwood though, one set ending on ceramic tile, so I'd rather not wait for that one time I can't get to him fast enough and over he would go.
Still no words as of yet, just lots of baby-like noises. We now have a one-on-one worker, Nicole, that takes Joey every Thursday afternoon to work on speech, she's wonderful and Joey loves her! I do feel that he is understanding more, and most recently he learned the word "hug"...when he is on my lap or sitting beside me I can just say "hug" and he lays his head on my chest while looking up at me with his big brown doe-eyes and a smile. It melts me!
Yesterday was the first of the month, which means we marked another month of Joey's life with a picture of him with his bear to show how much he's grown. A whole 26 months old, unbelievable. So here he is, with a shot from when he was 13 weeks old, just for comparison. He's such a little boy now!
This kid now refuses to just sit still and pose with the bear, as soon as we put him down he was off, trying to get to the camera as quickly as possible. My camera is quick but still only managed to capture him while on his way across the floor to me.
So today we're off to OT. Our appointment is at 10am, which I think will yield better results than the 11:30am appointments we've been having in the past. The poor kid is ready for a nap by noon, so he's usually pretty tired and we don't get much accomplished.
P, J & J
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
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:
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
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
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
Subscribe to:
Posts (Atom)
