Wednesday, December 31, 2008
This puts us right back to where we were before, with no answers, but there is one difference....our quest to "label" Joey definitively is going to be taking a major back seat at this time. We certainly can't rule out future tests, but at this time we are no longer actively seeking a diagnosis.
It is entirely possible that there is an as-yet unnamed, undiscovered genetic condition that Joey has. It could be discovered 10 years from now, we don't know. But for now we will carry on treating Joey symptomatically and developmentally, and hopefully one day we can give him a sibling. At least the option is no longer off the table :)
We wish you a happy and healthy New Year, I know we are very much looking forward to ripping 2008 off our calendars and starting fresh in 2009!
- P, J & J
Tuesday, December 30, 2008
And another quick video to illustrate why it is so difficult to catch him doing anything on tape, as soon as he knows the camera is on him, well...you'll see:
So I guess Joey just couldn't let 2008 pass into 2009 without giving us something big to celebrate. What absolute joy this child brings to our lives :)
- P, J & J
Monday, December 29, 2008
So here are some pictures from our walk today:
Sunday, December 28, 2008
I thought by this, Joey's third Christmas, he would maybe start to "get it" in regards to the whole concept, and maybe even open up a gift or two unassisted. Not this year, but I still say "not yet" over "it will never happen". Maybe that makes me a bit optimistic, but that's a label I'm okay with since it's not one I'm very familiar with and it seems like a nice one to enjoy.
It's hard getting excited about a holiday when, prior to having a child, one of the great things to look forward to was seeing the holidays through the eyes of a kid, which would definitely bring new meaning to Christmas. December 25th was just another day to Joey, perhaps a bit confusing with all the tearing of paper, empty boxes to explore, a giant tree in the living room and lots of people around eating lots of food. So now we have to adjust our expectations and see the holidays in a completely different way. We'll get used to it, I'm sure of that, but this first one after the realization that we won't have "typical" Christmases in the future was just a bit rough.
Now, on to our incredible "up"... The three of us were in the basement, watching a show called "Till Debt do us Part" (great show, by the way) and they mentioned the divorce statistic being 50%. That then led Jason and I to discuss how it is so much higher for parents of special needs children (75% to 85%, although some research disputes this claim), and how unfortunate it would be if that were to ever happen to us, since there is no other person on the planet besides the two of us that TRULY understand what raising Joey is all about. We feel pretty lucky that in our case I think Joey has made us stronger as a couple, and we make a pretty good team.
Anyway, as we're having this discussion about the stresses of having a child who is delayed and how it had been a while since we had seen any major progress towards a new milestone I was holding the TV remote, and Joey was playing on the floor. Joey LOVES the TV remote, saw it waving around in my hand I suppose, scooted over on the floor and kneeled up to try and get it out of my hand. This is nothing new, he does it all the time. The part that had us both in tears of joy was when he then brought one leg up underneath himself, then the other, and then he was STANDING at the couch, completely on his own! I did not help him in any way, it was totally spontaneous and independent, almost like he heard our conversation and decided to show us yet again at the perfect moment that he is always working hard to do new things. My stomach flip flopped all over the place, we were astonished and silent, not knowing what to say or do. After about 10 seconds he leaned back and fell on his bum back on the floor, and then proceeded to scoot away and play with another toy, as though nothing unusual had happened. I burst into tears, and Jason was laughing hysterically and kept saying "good boy! GOOD BOY!".
This is how it all starts with Joey. We can go to all the PT sessions in the world, and encourage him to practice to reach a specific goal all we want, but the first time he does anything it's all on his own terms. It was like that with rolling over, sitting up and kneeling, and now we are beginning with standing. Don't get me wrong, without the PT he would not have learned how to do it, but we knew the first time he did this it would be a total surprise.
That's our boy, just full of amazing surprises :)
- P, J & J
Thursday, December 25, 2008
Opening my gifts Christmas morning
Wednesday, December 24, 2008
I called the geneticist's office yesterday and left a message for the wonderful receptionist. She called me back right away, told me that I was correct in my assumption that Dr. V has been off and still is. She asked me to call her back next Wednesdsay, but was non-committal when I asked if the test results were back. So of course my imagination is running wild, thinking they are back, it's not good news and the Doctor has to meet with us personally to discuss. I could be wrong, but the last time we went through this in February my suspicions were dead-on.
So not to be a total downer this Christmas eve, I should also mention that Jason and I gave each other our gift to each other yesterday. We got free Leafs tickets and decided to make a night of it and stay at the Royal York in Toronto. The weather was crazy, so it was a good thing we stayed overnight. Our suite at the Royal York was lovely, with a view of the harbourfront and Union Station, looking so classically Christmas with the snow falling. I can't even describe how comfortable the bed was and we both got a great sleep, followed by a fantastic breakfast buffet the next morning and valet parking to bring us our car. It was a great treat, and despite the Leafs losing 7 - 2 we had a wonderful time.
For those of you travelling this Christmas eve please be careful, wherever you are. I know the weather here is going to turn icy. I am thoroughly enjoying (okay, becoming addicted to!) the live feed on the side of this page showing where people are logging in from, some places I recognize and know who you are (Hi Tanya! Hi Sarah and Avery! Auntie Eileen? Is that you?) and others are a mystery and my curiosity is getting the better of me (Ottawa? Port Elgin? California????). Jason says I need to get rid of that thing ASAP!
- P, J & J
Tuesday, December 23, 2008
And here is the one that Patricia's husband made. And note the little bells hanging on the rung near the top, Patricia made those for Joey as a Christmas gift:
The homemade one is SO much more sturdy, it is just so perfect. As our contribution we will sand it a bit more and stain/seal it in the spring, so that it can be added to the supply of equipment that is loaned out to other families once Joey is done with it. Every time I look at it I am just so amazed, and reminded of the wonderful people we have been meeting along the way. We are seeing Patricia today for our last physio session before Christmas, and I have a card and gift certificate for her husband as a thank you.
Tonight Joey is having another sleepover at Gramma and Papa's house, and Jason and I are off to our gold seats at tonight's Leafs game in Toronto, followed by a night at the Royal York hotel. Yay! We're very much looking forward to it, and then tomorrow the Christmas craziness begins!
No response from our geneticist as of yet regarding the myotonic dystrophy test. I emailed her over a week ago and she didn't respond, which is very unusual for her so I can only assume she is on holidays. I'm going to give it one last try and call her office this morning and see if I can find anything out, if not I suppose my goal of having the results before Christmas won't be realized.
- P, J & J
Sunday, December 21, 2008
As I had mentioned before, I was so excited to attend Joey's nursery school party on Thursday, as I never get to see him there with the other kids because Gramma Phyllis takes him every week. I was the first parent to arrive, grabbed a seat front and centre with my camera ready to take some video because the kids were doing a little presentation, singing 2 Christmas songs. There was a curtain dividing the room, and as soon as they drew it back and the kids started singing I did NOT have the reaction I anticipated. There were all of these adorable 2.5 - 5 year olds, a bit chaotic as they were singing but adorable nonetheless. Then there's my Joey, in Gramma Phyllis' arms, not singing, not even standing, and Gramma is singing for him. My heart broke in two, I'm sure of it. I froze, shocked that I was not reacting the way I thought I would. I wanted the floor to swallow me up and I felt horrible for thinking that. For the first time, there was my beautiful baby boy, among a group of his peers who are "typical" and it became painfully obvious that my child is extremely disabled. Somehow I managed to make it through with a smile plastered on my face, I even made it through the little social with Santa that followed, but once I helped Gramma and Papa Roy get Joey packed in their truck (I was supposed to go grocery shopping that afternoon) and I got in my car I started bawling, and just couldn't stop. I skipped the grocery store and headed straight home.
Something inside me definitely changed that day. The denial I've been living with the past 2 years is now gone and I am right in the thick of full-on grief. Great timing, huh? I've always loved Christmas, and I still do, but this one is already pretty emotional for me. But where there is a "down", it always seems to be followed by an "up"....
Joey started working with his PT assistant "P" in October. he instantly formed a bond with her, and now it's obvious to me that she has formed a bond with his as well. I could tell you the story of the amazing things she has done for us in the past few weeks, but instead I will paste below the letter I sent to her boss, which sums it up pretty nicely:
My name is Pamela and I have a 2 ½ year-old son named Joey. He was born with hypotonia, and since his birth we have also discovered that he is globally developmentally delayed. Since then he has been assigned the diagnostic label of hypotonic cerebral palsy. We have been involved in all sorts of therapy through various organizations, first through the neonatal Follow Up Clinic, and now we receive services from CCAC, CTN and SCS. Throughout this journey we have faced countless obstacles, and both my husband and I have had to become aggressive advocates for our son in order to obtain the programs and services that he needs, programs and services that quite obviously suffer from a lack of staff and resources. I am always the first person to speak up or express my dissatisfaction when we are not getting something we need but I try to balance that with recognizing when we receive outstanding service, which is why I am writing to you today.
J has been Joey's physiotherapist since December of 2006, when Joey was only 9 months old. From the very first time we met with her I have been completely impressed by her professionalism, knowledge and commitment to Joey's care. In fact, with all of the therapy Joey receives, including OT, SLP, nutritional support etc. I am happy to tell you that PT has been the most consistent, and that is due entirely to J. Recently Joey had a Bayley Assessment done, and the one area that he excelled at above all others was his gross motor skills, and I am positive that it is because of J's work with him over the past 2 years. She has always known when Joey only required maybe one or two visits a month, and also recognized based on his development when he needed more intensive blocks of therapy and made sure that it happened. In addition to the PT she provides she has been such a great support to me personally, offering advice and resources when asked, and sometimes just providing an ear to allow me to vent about some of the difficulties we have faced. All of these things combined make her an excellent therapist and an asset to your team.
Recently J identified Joey as a child who would benefit from the additional support of your newly added PT assistant, P. Joey began working with P on a weekly basis in October of this year. Just when I thought our service was as great as possible, I now find myself extremely grateful for Patricia's work with Joey. Joey formed an instant bond with Patricia, he behaves towards her as he only does with close family members, and P's response to this has been to treat Joey the same way. He has excelled under her care, gaining more skills in a 3-month period than I thought possible. Her wealth of experience has benefitted Joey so much, and we were so pleased to learn that Joey will continue to work with her in the New Year. P has gone above and beyond her job. Joey really enjoys a particular toy we use during his sessions, a simple set of colourful elastics with bells attached, and when I mentioned to P that I was having difficulty finding the elastic to recreate the toys she took it upon herself to buy white elastic, dye it herself with food colouring and sew the bells and Velcro on, giving a set to Joey as a Christmas gift. There is also a piece of equipment that we use for his sessions, the "ladder", that we have actually looked into building or purchasing ourselves, but it costs about $450, and given that we work full time and are raising a child with extraordinary needs finding the time to build something similar was very difficult. Tonight I received a call from P telling me that her husband has built a replica of this ladder for Joey to use as long as he likes. I don't think it's possible for me to express in words how amazing this was for her to do; I'm not sure how we could ever thank her.
I know it's very easy to simply say "thank you" to J and P, but I wanted to do more, so I have written you this letter hoping they will be recognized for their dedication and obvious passion for the job that they do. I also wanted you, as their supervisor, to be aware of the wonderful things your team does in the community.
Most people, when they have a child, see only a few people added to their life because of it. Maybe a pediatrician, or some new Mommy friends at a playgroup. At last count I would say we have met about 30 new people because of Joey's disabilities, and some of these people truly are angels on earth. Can you imagine our amazing "P", who has know Joey for all of 3 months, having her husband BUILD this piece of equipment for Joey??!! And wait till you see it (it's still at Gramma and Papa's house right now, but I will post pictures later). The one he uses at therapy is nice, but the one Patricia's husband built is even BETTER! When she told me about it I thought perhaps he slapped something together with scraps, which would have been fantastic in and of itself. but no, this thing is of the highest quality, and I know Joey will get so much use out of it.
Having a disabled child also changes the people around you, and your relationship with them. No one, not even she herself, thought that Gramma Phyllis would become the HUGE part of Joey's life that she is today. I wish you could have seen her up there with Joey during that Christmas presentation at the nursery school...instead of simply enjoying her retirement in Florida, which is where she and Papa Roy would be at this time of year if it wasn't for Joey, she was up there supporting Joey, and by doing so supporting both Jason and myself. And then there's Papa Roy, who has no biological connection to Joey whatsoever, and you would never know it. On Friday we had several appointments with Joey all over the city in the midst of a bad snowstorm. Papa Roy provided me with my own personal escort, following my car around in his truck from place to place, waiting patiently for Joey's appointments to end, just to make sure we got everywhere safely. I'm quite sure he could have done lots of other things for that 6 hours, but he lovingly wanted to make sure we got where we needed to safely.
~sigh~ So we are very lucky in so many ways, and I know this. And the luckiest thing is that we have this gorgeous, happy, sweet, loving boy who has had an amazing impact on everyone he meets.
- P, J & J
Monday, December 15, 2008
In September Joey weighed in at 21 lbs 16 oz, and today's weight was 23 lbs 1 oz! A gain of just over a pound in 3 months is HUGE for this little guy, I am so thrilled! We knew he had probably gained a bit but with all of the illnesses he's had over the past couple of months I thought he may have lost much of what he had gained.
Needless to say our pediatrician is very happy with the gain and there were no further talks of a g-tube at this time. And to top it all off he just ate a full lunch for me without a struggle. It's a good day!
- P, J & J
Sunday, December 14, 2008
I made this photo collage of Joey's grandparents and Zia, and put it above his crib so they are "watching over him" while he sleeps and he will always know he is loved so very much.
My Grandmother made these curtains for Joey's nursery in our old house. I have a feeling they may be moved to our spare room and a valance will take their place, as Joey likes to reach out of his crib and play with the blind.
So finally, over a year after moving in, Joey's room is done!
We have a busy week coming up. Tomorrow is our visit with the pediatrician. We're anxious to see how much weight Joey has gained since his last weigh-in in September. He was doing very well with eating for the past several months but with all the recent colds he has had his appetite has gone downhill.
Wednesday, December 10, 2008
I would like to thank you for the three pairs of gently used overalls you placed in a bag and tied to my front door! 2 sized 3T and even one 4T, all very cute and exactly what we were looking for...how can I possibly thank my anonymous benefactor?!
I have a feeling I know who it is but my conversation at Saturday night's Christmas party was clouded with a few chocolate martinis, so I will have to wait and see if I'm right...
- P, J & J
UPDATE: I was right! Thank you Susie, and thanks Jakob for lending us the overalls you once wore, and thanks to Charlie for lending us the overalls you have yet to wear!
We have some pretty amazing friends.....
Sunday, November 30, 2008
Lots of new stuff! This first video is pretty darn cute, I especially love how the cats are keeping a watchful eye on what he is doing:
Those food and water dishes for Kaiser and Vita have been there since we moved into this house a year and a half ago. Joey has never paid any attention to it, but recently he's become a LOT more curious about everything, and a little more bold. He moves large items around ( like his high chair!!!) by pulling and dragging them around the room. The first time we caught Joey doing this in the cat dishes I was bit disgusted; I mean, he sticks his hands in the water, then into the cat food, and then into his mouth! But given that he doesn't usually bring anything that resembles food to his mouth I guess this is a huge step, and little processed fish meal never hurt anyone, right? I suppose we should tell him "no" when he does things like this, but given his limited understanding of the word (and the fact that he thinks it hilarious whenever we say the word in a stern voice) it's best just to redirect him and/or move the object in question. Traditional discipline for 2-year-olds just don't work with Joey, as he really is never "bad" and I don't think anyone can misbehave if they don't understand they're doing so. But you'll notice he looks back at me many times, it could be just that he's proud of himself and wants to make sure I'm paying attention, or maybe he is starting to understand that there are some things he shouldn't be doing!In this case, shortly after this video was taken, we moved the dishes and now the feline members of our family dine in the laundry room :)
This next video is of Joey's latest physiotherapy session last Friday. We love our therapy assistant, Patricia, and Joey loves her even more. You'll also notice Gramma Phyllis keeping a watchful eye over her boy in the background! Our goal right now is to get him standing for as long as possible to build up the muscle tone in his legs. He doesn't yet have the balance, strength or coordination to stand without help. We love this little rack they have, Jason is hoping to build something like it for Joey for Christmas. The little bells are stitched onto multi-coloured wide elastic and secured like a bracelt with velcro, if anyone knows where I can find the elastic please let me know, he loves them and I'd love to make him some.
- P, J & J
Friday, November 28, 2008
My name is Pamela L. I have a son, Joseph, who is 2 years old and has cerebral palsy. For the past year we have been receiving Nutrisure pudding through our provincial drug program, the Ontario Drug Benefit card. Each month we would receive 16 4-packs of pudding. Our son is on a diet of strictly Pediasure Plus and Nutrisure pudding, the pudding is the only solid he will tolerate. To date we have been successful at avoiding the insertion of a g-tube as he will take the Pediasure by bottle and pudding (chocolate only!) by spoon.
Last month I called our regular pharmacy to refill our prescription for the Nutrisure. When I picked it up I was given only 3 4-packs and told that the product has now been discontinued, and that Ensure pudding would take it's place. When the pharmacy attempted to order chocolate Ensure pudding through their wholesaler, McKesson, they were told that they can only get the butterscotch flavour and they weren't sure if or when they could get chocolate. In addition, it did not appear that ODB would be covering the Ensure pudding.
I have called your office in Montréal many times over the past 2 weeks and spoken to several very nice customer service representatives, but unfortunately they have not been able to help me. One person did offer to send me some $5 coupons, however I am not able to find chocolate Ensure pudding at any of our major pharmacies, including Shopper's Drug Mart, Zellers, Costco, Walmart and several grocery store chains. They all use the same wholesaler, and therefore cannot order the pudding as they are being told it is not available at this time.
I have a 2 year old disabled child who relies on this pudding. I find it irresponsible for your company to suddenly discontinue the Nutrisure pudding without sufficient notice to customers, and not having an alternative available. Furthermore, I have contacted the Ontario Ministry of Health today and they have informed me that your company has not even applied to have Ensure pudding covered! Should this not have been done prior to discontinuing the Nutrisure?
The situation for us has now become critical. We hd a bit of a reserve of the pudding built up but it is now gone. I encourage you to act responsibly and please send me some chocolate Nutrisure or Ensure pudding as soon as possible, work with your distributors to get the supply flowing and complete the necessary paperwork to have the new Ensure pudding covered under ODB. I am sure my son is not the only child who relies on this product.
I anxiously await your prompt response.
Thursday, November 27, 2008
Wednesday, November 26, 2008
We're pretty lucky so far...no one has said to us that Joey will never walk. In fact, everyone seems pretty positive that we will, it'll just be in his own time. Despite his delays Joey has definitely developed quite a personality, and perhaps inherited a bit of his mother's stubborness! This poses challenges when it comes to therapy, but we are still confident that he will walk.
Today I finally broke through one of my own mental blocks and swallowed a bit of pride and got an application for an accessible parking permit for Joey. I had never really considered it before, but now that he is able to sit in shopping carts or in a chair by himself I find myself carrying him from the car to whatever building we're going to, instead of using a stroller. That was fine in the summer, but with the snow and ice upon us it's becoming increasingly dangerous for me to walk across a skating rink-like parking lot with a squirmy 2.5-year-old in my arms! Last week when we went to his physio appointment I carried him in, extremely nervous about slipping and falling because the lot was covered in a thick layer of ice. On our way into the building I passed the empty accessible parking spot, which was cleared of ice, well salted and there was a salted pathway to the door. So we're applying for a temporary permit, since we never know if/when Joey will be at least be able to stand on his own.
I hope you found the video as moving as I did. I'm glad I came across it again.
- P, J & J
Tuesday, November 11, 2008
Dr. V says she has gotten results from this test as quickly as 4 weeks, but it has also taken as long as 12 weeks. I noticed on the lab requisition that there were some circumstances that this test could be a rush job, but only if I was currently pregnant or Joey was less than 3 months old, so we get absolutely no priority at all in this case. Had I not been so mentally and physically drained I might have gotten pushy and asked that she request this one be rushed under special circumstances (maybe that Mommy is going to lose her mind?!) but I decided against it.
So it may not be until January that we get the results, but the good news is that Dr. V tells me that this is a definitive test, no room for misinterpretations like with the Angelman test fiasco back in February. I suppose I'll just focus on that positive for now!
- P, J & J
Monday, November 10, 2008
I just received a message from Sick Kids Hospital to let me know that Joey's test for Myotonic Dystophy was NOT done, because Ottawa Children's Hospital (CHEO) did not receive Joey's blood sample until SIX DAYS after it was drawn, and they need a fresh sample to do the test.
So that would mean they received it October 15 or 16, knew they couldn't do the test and I am just being notified now. And here I was thinking that we'd be getting results any day now, but instead I'm spending the balance of my day calling around to the lab, Sick Kids and CHEO trying to find out where this mistake happened. I need to know so that we can figure out if we're just going to have to drive to downtown Toronto to get the blood drawn this time or if it wasn't the lab's fault maybe we can try again here. As I type this I am into my second half-hour on hold with the lab, and the longer they leave me hanging on the phone the more angry I am getting.
I am devastated. As I explained to the Sick Kids nurse (in between sobs) in the message I just left her, I am 33 years old and would like to have another child, but we need these results back before we can decide on that. I think about this test daily, wondering if Joey has MD, which would mean I have it too, and are we going to have another baby or am I going to be scheduling a tubal ligation because there's too big of a risk to have another child? I feel sick to my stomach knowing we have to start all over again.
- P, J & J
Monday, October 20, 2008
After being inside Friday night and all day Saturday we thought Joey seemed well enough to go to Chappell Farms yesterday, something we do every year in the fall. He certainly wasn't his usual smiley self but he also wasn't miserable. We took lots of pictures, some with Joey in his adorable Halloween costume, and most of them are straight-faced Joe, instead of bubbly Joey. I'm okay with that, as most of the pictures we have of Joey are of him smiling so it's nice to get a few with a more serious look.
A bit of a smile on the hayride
The best we could manage of a family photo
Surrounded by pumpkins
Our sweet, sweet monkey
Luckily Joey gets to go back to the farm this week with Gramma and his nursery school class. He seems to be on the mend so hopefully he will enjoy himself a bit more.
Today we have a busy day in store. This morning at 9:30am we have our early intervention infant development worker coming over, accompanied by our new speech language pathologist, to work on communication. I actually had some homework to do for this visit, and much like when I was in high school I procrastinated and was scrambling to get it done yesterday! I had to take pictures of Joey's favourite toys and the SLP is developing some sort of activity to do with them.
Then at 11:30am we have a team of three people coming over; our dietician, an occupational therapist and the OT's supervisor, to observe Joey eat and perhaps give us some suggestions on how to improve the situation. After my begging, pleading and advocating for more OT service we finally got approved for 2, yes TWO, OT sessions to deal with Joey's feeding issues. Apparently this new OT is really, really new, and at the suggestion of our dietician who is much more experienced with kids and feeding issues it was decided that the OT's supervisor should also join us. Yesterday the dietician called us and said she had been at a conference all weekend and learned some new things, and thought we should videotape Jason feeding Joey his dinner last night, since getting Joey to eat on command in front of an audience of strangers can be challenging. So Jason had homework too, which was a nice change for me, and he rose to the occassion. Once I figure out how to transfer it to the computer I'll post it on the blog so you can see what a messy affair feeding Joey is.
So I'm hopeful that this morning we will maybe get some more useful suggestions on how to make meal times more enjoyable for Joey, and how we can work on getting him to bring food to his mouth himself and maybe transition into the exciting world of textures. Fun times!
No word yet on the results of our MD test, but we're really not expecting anything for another month.
Wish us luck today!
-P, J & J
Thursday, October 9, 2008
So as I type this Joey's sample is on it's way to Ottawa, and now we have a 8-10 week wait for the results. But that's okay, I just wanted the ball rolling before we leave for Vegas tomorrow. So now we can have a relaxing holiday, we're both so relieved!
Happy Thanksgiving everyone :)
- P, J & J
Wednesday, October 8, 2008
Joey has seen 3 neurologists since he was born. Dr. L was the first one, we weren’t happy with him and requested a referral to Dr. B, who we met in January and she ordered the tests that Joey had done at Sick Kids in April. When we got the Angelman diagnosis, Dr. B automatically transferred Joey’s file to Dr. M, who specializes in Angelman. At our last meeting with Dr. M in June he basically told us that since Joey does not have Angelman he will be closing his file, and didn’t feel it was necessary to have him followed by a neurologist at this time.
So fast forward to 3 weeks ago. Sick Kids left us a message reminding us of our follow up appointment with Dr. B on October 2, which was booked way back in January. I called back, basically just to confirm that this was a mistake and the appointment wasn’t necessary. I ended up speaking with Dr. B’s nurse, who reviewed Joey’s chart in the computer system and read aloud a section of a letter Dr. B wrote to Dr. L saying that “Joey exhibits many characteristics of Congenital Myotonic Dystrophy” and if the tests that were completed in April are negative (which they were) she recommended he be tested for MD right away. This letter was written last February, and sent only to a neurologist we have not had contact with for well over a year, so obviously this information was never communicated to us.
Dr. B is a pediatric neuromuscular doctor, and her sprcialties are Muscular Dystrophy and Multiple Sclerosis. I would imagine that her assessment of Joey is worth something.
I asked that they use the DNA already banked for Joey at Sick Kids to perform the test, so we don’t have to take a day off work and drive 3 hours round trip to the hospital in order to simply give a sample. This is not possible, they need a fresh sample for this test, which is apparently sent to the children’s hospital in Ottawa to be tested. So I contacted our geneticist, Dr. V, by email and asked if she could do the test at North York general, and this was her response:
Hi,I am happy to hear from you.
After all of the confusion with the micro array results, it did not escape me that we have never found the diagnosis for Joseph. We have NOT tested him for myotonic dystrophy, as far as I can remember. I will check when I am back in the office tomorrow. The genetic test is the simplest way to test for this. I will see if we have banked DNA. If not, I would be happy to see you next week for a quick chat if you have questions, and to draw blood from Joseph. The myotonic dystrophy test is done in Ontario.
Best regards, Dr. V
Apparently Dr. V isn't aware it must be a fresh sample?! That email was received well over a week ago, and despite me emailing her again asking for an appointment with her as soon as possible, I have yet to receive a reply. So yesterday I called our local paediatrician, Dr. K. His receptionist is AMAZING, spoke to Dr. K. right away and asked if he could order the test so that we could give the sample here at the local hospital. Of course he said yes. So the receptionist said she would call the hospital right away, find out which requisition form is required and she would fax it right over to me. I knew it was too good to be true. Later that afternoon she called back…apparently they have NEVER couriered a blood sample to Ottawa and have no idea which requisition form is required for this test. The person who might know, who works in the chemistry department, was away. The receptionist called back again today and was told that our local hospital will NOT draw the blood for this test. We’ve been though this before with our hospital…last time we had to get North York General to fax all of the paperwork to our hospital, someone had to actually call them to give direction, the sample was couriered to North York general and they in turn couriered it to where it needed to go. HUGE HASSLE.
I was a lot more patient when we went through this for the Prader-Willi test, and the Spinal Muscle Atrophy test, because I knew deep down he didn’t have either of those. In fact, once the blood was drawn for those tests I forgot all about them until the doctor’s office called us. I had never heard of Myotonic Dystrophy before, and with Google being both my best friend and my worst enemy, I’ve found out a lot of disturbing things about this disease, which is a form of Muscular Dystrophy. Here are a few things I found:
What is congenital myotonic dystrophy?
Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form. 'Congenital' means 'from birth' because the condition is usually identified at birth or soon after; 'myotonic' means 'involving muscle stiffness'; and 'dystrophy' means 'muscle wasting and weakness'.
What are the symptoms?
Often babies with congenital myotonic dystrophy have problems with breathing after delivery and may need to be helped using a ventilator. Suction to remove any secretions in the lungs may also be necessary. Respiratory problems may continue after the birth and can be very severe and life threatening, especially if the baby is premature. Once the neonatal period (28 days after birth) has passed, the respiratory problems tend to improve. The baby is often floppy (hypotonic) which means that she or he has poor muscle tone. This usually improves with age.
It is important that physiotherapy should be practised on the baby from a very young age to help with breathing and lung function, and to encourage movement and strength. The motor milestones (physical achievements, such as sitting unaided) and the intellectual milestones (such as talking) which a healthy child reaches by a certain age, tend to be delayed in a child with congenital myotonic dystrophy. There may be speech difficulties, particularly with clear pronunciation, and so speech therapy can be of help.
A baby often has swallowing, and therefore feeding, difficulties. She or he may regurgitate food, have bouts of colic and need food supplements. Some babies may need a feeding tube (nasogastric tube) or even at times of illness a drip (intravenous infusion) to help with feeding.
How early is diagnosis made?
During the pregnancy, a mother of a child with congenital myotonic dystrophy may have noticed that the baby was not moving around in the womb as much as normal, and had reduced foetal movements. She may have had hydramnios (excessive amounts of amniotic fluid) and premature labour. The mother may not be aware of having myotonic dystrophy herself until after the birth of her affected baby.
If you’ve followed our blog you can see there are so many things that fit with Joey’s issues. To be honest I can’t really understand why no one ordered this test earlier. With Angelman there was always doubt, given that Joey didn’t have so many characteristics of the syndrome. But this…well, Joey has ALL of the characteristics of CMD. And as I started researching MD Type 1, which I would definitely have if Joey was diagnosed with CMD, a lot of things made sense to me in regards to my own medical history.
So now we wait. I’ve sent another email to Dr. V. asking for help in getting the blood drawn here. I’ve spoken to the chemistry department at our local hospital myself, and the person I spoke to said she will have to talk to the medical director and she will get back to me. I was so hopeful that we would have the blood sample given and the test sent away this week. Jason and I are leaving Friday on our first vacation alone since Joey was born and I really didn’t want to think about this while we’re gone!
- P, J & J
Tuesday, October 7, 2008
Stacy has gone through her entire pregnancy knowing that her son, Isaac, would be born with several genetic abnormalities and likely would not survive long after birth, if he made it through the pregnancy at all. In addition to the blog I linked to above, she also started another blog as daily letters to Isaac:
I warn you in advance, do not visit either of these blogs without a box of tissues handy.
I have followed her blog for months and her strength and courage have been such a source of inspiration to me. Today was Isaac's birthday, a scheduled c-section. Isaac lived for 16 minutes.
The lesson I have taken from this isn't that "God only gives us what we can handle", nor is it that "things could be worse". Stacy wished for one thing above all others...to be able to hold her son while he was still breathing. Sure, she prayed for a miracle, but her biggest hope was simply to hold her son while he was alive.
So on the bad days I have, when I get angry and wish that Joey would just start talking or walking, I need to remember to be thankful for the seemingly small things that truly are a gift. Today Joey woke up with a smile on his face, he gave me hugs when I asked for them, and tonight he will cause Jason and I to laugh with the silly things he does.
And tomorrow I will get more than 16 minutes to hold my son.
- P, J & J
Friday, October 3, 2008
Well, I have to give Joey an A plus for his first day at nursery school!! It went so much better than even I had anticipated. I had brought a few familiar toys and his blanket to sit on if everything seemed too overwhelming. Unfortunatly, I had left them all in the hallway on his hook, so we went in cold turkey.
Fortunately they have the bead toy there so the first thing I did was sit him on a chair at the table and let him play with that. Then I moved him to the rug by the reading corner. Other kids came over to play with the toy too and he was ok with it. Then I moved him to the big rug where a few more kids were playing and once he was busy with a truck, I just walked away to talk to some of the other kids and watch him from afar. I never thought I'd get to that step today. I would have been happy to have him on my lap as long as he wasn't unhappy, but he was way passed that. He was moving around from the floor to the carpet, watching all the kids and what they were doing. He even tried to play with some of their toys. It was just awesome!
Then it was circle time and since he really doesn't like just sitting around doing nothing, I did have him on my lap and he played with my keys between songs while the kids talked about shapes and patterns and stuff like that. Then it was snack time!! We washed his hands at the sink and then he sat at a table with 5 other kids. I could have fed him off by himself but I wanted to see how this would go. He ate 3/4 of a minigo and a whole nutri pudding!!! Mind you this was between 10:30 and 11am so I'm sure he was hungry but the other kids were talking, and asking me to open up stuff for them, so I thought he did great. He spent a few minutes watching the others eat when he was done then let me know he'd enough so we moved back to the reading corner till the others were done.
Then it was time for gym, in the big gym upstairs. I figured we might as well give that a try too , so up we went. At first it seemed a little overwhelming, but there is a mini trampoline there so I sat him on it and bounced him like I do on the bed. He was all smiles. Then the teacher brought out a scooter board so he enjoyed that as well. All in all he had a good time up there, a few whiney moments but basically got through it happily.
After that is was story time. I knew he was getting tired so I sat him on my lap for the story. He actually seemed to be enjoying the book, watching the teacher as she read it and looking and smiling at the other kids. I was so proud of him. There were 2 other kids in there who cried a whole lot, but Joey was great. Now of course probably because I was with him and know the triggers that set him off and the things that calm him down. But I was not glued to him the whole time and when I felt he was ok to be alone, I sure let him do his own thing.
I think this was an excellent beginning. The teachers were very accommodating and offered to bring out other equipment if I wanted to work on his PT or OT stuff with him. I just told them that for today, I just wanted to follow his lead and let him be happy. But there are lots of activities that we can try when he is totally comfortable with the whole thing. The only thing is he really didn't want any lunch and fell asleep as soon as I put him down. He's tired and so am I. He'll be ready for a big snack when he wakes up.
So that was our morning. Time went by quickly. I thought 2 and 1/2 hours might be too long, but the pace is perfect for Joey. There is even a small aquarium in the classroom. I only really noticed it when another little boy tossed a couple of trucks into it!!
I guess Jason will be picking the boy up tonight. That's good cause Papa Roy wants to take him for walk if the sun is till shining after his nap and snack. See you all later.
One very happy, very tired Gramma.
Sunday, September 28, 2008
He's just starting to get used to it, and can't really figure it out yet so he basically just stands there, which is okay for now until he gets the concept. Weight-bearing on his legs is really important right now. I know he'll get it eventually...I remember when we first put him in his Jolly Jumper he'd just hang there, it was so sad! But once he figured out he could get his legs to move him around he was a wild man, so much so that we eventually had to take it away because his crazy jumping just wasn't safe anymore.
So here are some pictures and a short video clip of Joey and his Mustang, with a special guest star appearance of Vita Marie, our much loved therapy cat (she's not really a therapy cat, it just seems like she is) who loves Joey to bits.
- P, J & J
Saturday, September 27, 2008
Teeny tiny in his cradle
Still able to fit in my lap
I have a thing for baby feet :)
- P, J & J
Tuesday, September 23, 2008
Not many pictures to share, by the time I thought about whipping out the camera Joey was ready for a nap and not his usual smiley self.
Hugs from Grandmere (even sleepier)
Yes, they really got this close to us when we were sitting in the grass. No zoom used here! Joey wasn't a fan.
Friday, September 19, 2008
Despite a small bought with car sickness on the way home (poor Joey, and poor Zia Jodi who got to sit beside him!) a great time was had by all. Of course, we have new pictures:
Joey with Zias
L-R: Zia Ev, Zia Jodi, Zia Ange
Dinner was at a pub, so we thought it only right to take a picture of Joey's very first time in a bar! (note both the proud Daddy and Joey's adorable new moccasins, picked up at the French River Trading Post on the drive up)
This picture turned out terribly, but it's the only one we have of the group at dinner.
So today we're off to visit Nonno Joe and Nanny Sue, a quick trip to Ikea and then to the airport to pick up Grandmere!
And just a quick "hello" to Gramma and Papa Roy, who I know are enjoying their vacation but are also missing Joey like crazy! Gramma never really mentally vacations from Joey, I know she is probably reading this even though she should be relaxing in the Okanagen Valley :)
- P, J & J
Wednesday, September 10, 2008
Scale Age Equivalency
Cognitive 6 months
Receptive Communication 10 months
Expressive Communication 6 months
Fine Motor 4 - 10 months
Gross Motor 8 months
So no major surprises here. The range for his fine motor is pretty puzzling. I would actually say he is much closer to 4 months than 10 months, I'm not really sure what he does in a fine motor capacity that would be considered equivalent to a 10 month old.
Given that the only therapy that he receives that has been consistant is physical therapy I'm not shocked that his communication, cognitive and fine motor skills are so low.
I'm beginning to become very disillusioned by our "system" for children with disabilities in this province. In talking to other parents of disabled kids I realize this is just another milestone for us on our journey, it seems that everyone reaches this point at some time. To quote from a very inspirational video that was shared with me a few months back... "This system is so flawed by it's inflexibility to adapt to an individuals' needs". Joey could be the (extremely cute) poster child for the need for change in the services available to special needs children.
I worry about the waiting lists, the lack of service, the lack of funding, the lack of support. Joey isn't even 2.5 yet and already I'm frightened about how on earth he will adapt to school. The gap between Joey's abilities and the desired milestones for children his age is getting steadily larger...while he continues to make progress and never loses skills, which is all very positive, he is still so dependent on others in every way. I mean, if his "age equivalency" average of 7 months doubles over the next year and a half, I worry about how my 4 year old, functioning at a 14 month level, could be integrated into a junior kindergarten class. My understanding of the availability of services once kids start school is that they become LESS available, and that kids with disruptive behaviour issues receive top priority. Will I actually reach a point where I'll HOPE that Joey develops behaviour issues just to receive the therapies he deserves? No parent should ever have to ask themselves that question.
On to the good news: We're on vacation this week, so Joey gets his Mommy and Daddy all to himself. It's been a busy week; OT, PT, first day of swimming lessons, pediatrician appointment, dietitian appointment. And that was all by Tuesday!
Joey weighed in yesterday at 21 lbs 15 oz, 90 cm tall. The pediatrician is still satisfied with his growth and doesn't feel a feeding tube is necessary yet. He is going to refer us to a developmental pediatrician (In Orillia, not at Sick Kids in Toronto, yay!) to evaluate him for a possible secondary diagnosis of Sensory Processing Disorder (SPD). I would be surprised if Joey WASN'T diagnosed with this...he has definite sensory issues...loud and unusual noises (especially indoors), tactile sensitivty with his hands and of course his unwillingness to put anything in or near his mouth except for fabric. I'm not sure how long we'll wait for this appointment but there's no rush.
The rest of the week is busy too...a trip to Sudbury to visit Jason's Zias and extended family tomorrow and Friday a trip to Ikea in Toronto, followed by dinner with Nonno and Nanny Sue, then off to the airport to pick up Grandmere! If the weather holds out we'll be going to the Toronto Zoo on Sunday or Monday. Lots of excitement :)
- P, J & J
Saturday, August 30, 2008
The 'R-word' is no joke
For the intellectually disabled and their families, it's just as bad as the "N"-word.
By Maria Shriver August 22, 2008
This has been a year filled with teachable political moments. Racism, sexism, ageism and "change" have been debated at kitchen tables and water coolers across America. But this last week, those gathered around my kitchen table have been consumed with another discussion, one that is not Democratic or Republican -- it's the "R-word" debate.
The "R-word" stands for "retard." For the 6 million to 8 million Americans with intellectual disabilities and their families, this word and its hurtful use is equal to the impact of the "N-word" on an African American.
The reason it's kitchen-table fodder is because of the Dreamworks film "Tropic Thunder," which topped the box-office charts when it opened last weekend and which will attract many more moviegoers this weekend. In the R-rated film, which I've seen, a character named Simple Jack is a caricature of a person with a developmental disability. In one of the scenes, the character played by Robert Downey Jr. chastises Ben Stiller's character for "going full retard," and the "R-word" is repeated many times.
As a journalist, I respect the right to freedom of speech, and my kids will tell you I laugh the loudest when we see a comedy. But as the niece of someone who had a developmental disability, and as a member of the board of directors of Special Olympics International, I know how hurtful the "R-word" is to someone with a disability. I know why "Tropic Thunder's" opening was met by protests on behalf of the intellectually disabled.
Listen to actor Eddie Barbanell, who serves on the Special Olympics board with me, and he will tell you in very emotional terms how the use of that word has made him feel rejected, stupid, demeaned.
Or you can talk to Special Olympics athlete Loretta Claiborne, who speaks on behalf of millions when she describes how the "R-word" has been used to mock and degrade her. She asks all of us to stop using this word without regard to its effect on the hearts and minds of people with disabilities.
There is an old saying: "Sticks and stones will break my bones but names will never hurt me." Even when I chanted it as a child, I never believed it. Words do hurt -- they break people's spirits, they break people's dreams, they break people's hearts.
Kids will see "Tropic Thunder," no matter the rating, and when they leave the theater and go out to their schools, their homes and their communities, they'll call each other the "R-word" because they think it's funny. They'll do it without any idea or regard to how it makes a person with a disability feel.
Too many in the intellectually disabled movement cannot speak out for themselves. It is up to their families and those of us who advocate on their behalf to explain that calling someone by the "R-word" is no longer acceptable and is anything but funny.It's not acceptable in a movie theater; it's not acceptable on a playground.
It's not acceptable that college coaches use it to chastise athletes. It's not OK to use it in a classroom or a boardroom.
"Tropic Thunder" is giving Claiborne, Barbanell and many other individuals and organizations that serve those with special needs -- the Special Olympics, the National Down Syndrome Society, the Arc, the American Assn. of People with Disabilities, Parent to Parent-USA -- a teachable moment. They are ready to join with the entertainment industry to change minds. Dreamworks' decision to include a public service announcement with DVDs of "Tropic Thunder" is an important first step, but far more needs to be done.
Just as important, parents must talk to kids at our kitchen tables about how we have felt when someone called us stupid, idiotic or lame. Because once we put ourselves in someone else's shoes, certain names just aren't that funny any more.
I often quote the Hopi prayer that tells us not to look outside ourselves for a leader. It tells us that we are the ones we have been waiting for. We can exchange one "R-word" for another: respect. We can teach our children that name-calling hurts.
Let's makes the "R-word" as unacceptable as the "N-word." Think of all we can accomplish if we work together.It's one thing in this political season that shouldn't require a water-cooler debate.
Maria Shriver is the first lady of California.