Monday, October 20, 2008

Pumpkins and Puke

What a lovely title for a new blog entry, don't you think? We had round 2 of Pukefest 2008 over the weekend (round 1 was during our ill-fated trip to Florida in April). Poor Joey picked up something along the way and started feeling sick by the end of last week, with a deep, chest-rattling cough and lots of sneezing. It's hard to say if he was really sick to his stomach...he would throw up after a coughing fit. The poor child inherited at least one thing from his extremely weak gag reflex. This is also likely due in part to the low muscle tone in his neck and mouth, which also results in a whole lot of drooling when most kids are over that stage of life by the age of 2.5. The good news is that whatever this bug is it didn't travel to his head and he never did become congested, which is always our big fear when he gets sick because when he is congested he has a VERY difficult time eating or taking a bottle. His appetite seemed pretty steady so for that we're thankful.

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

I love this picture of our friend Brian and daughter Georgia, searching for the perfect pumpkin

Time to go home!

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

The Test is Done!

In a brainstorm on my drive home from work last night I rememebred there is on elab in our city that is not part of the mass lab chain that every other lab here is part of. I called them when I got home and sure enough, they do this test! Just a few glitches, such as the days/times they can do the test, the paperwork they need etc. but that was all sorted out this morning and at lunchtime Gramma took Joey to get poked.

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

Just when we thought we were done....

Another test has popped up. It’s a bit of a story, so bear with me.

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

Our Latest Lesson

Through the blogging community I came across the blog of one very amazing family, who is going through a very difficult time in their lives.

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 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

First Day of Preschool!

Joey became exactly 2.5 years old on October 1st and started preschool the very next day! Gramma Phyllis went with him to act as his "mediator" and it went much better than any of us expected. I'm not sure if I actually took a breath the entire 2.5 hours they were there, I was dying to know how it went, but Gramma is very good at keeping Jason and I informed at work and I knew an email would be forthcoming. I was not disappointed! I thought instead of describing how I heard his day went I would just post the actual email. That way you can also see how lucky we all are to have Gramma and Papa in our lives :)

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.