A bit of a twist

Just when we thought it was all over, we had a diagnosis and it was time to move forward, we experienced a little twist. In talking to some very educated Angelman Moms (thanks Becky and Erin!) it came to light that Joey's lab results seemed a little confusing, so I emailed Joey's geneticist for further clarification. Here is the response I received:

Hi, I am working to figure out what the finding from the lab means for Joseph. I asked our lab about more testing on the Angelman region. We checked and we have tested for an abnormal imprinting pattern, and the pattern is normal. My lab is looking into this further, and so am I.

I know this is confusing, but I am trying to sort it out as much as I can. Given this confusion, I think you may consider going for the appointments that the HSC neurologist wants for Joseph, to see if we can delineate his symptoms, strengths and weaknesses, since really what we are finding is unusual on a DNA basis.

I would like to set up an appointment with you and with Joseph to see him again, and go over whatever information I have managed to get. For the next few weeks I am fully booked, including an out of town clinic and a genetics conference out of town. I will see if we can set something up for later in this month. We'll try to make it as convenient as possible for you. I will get Diana to call you with some suggested times. She will likely call you tomorrow or next week.

Regards Dr. V

So, as you can see, Joey's results are a bit of a mystery right now. From what I can tell, Joey definitely has an issue with his 15th chromosome inherited from me, and he definitely has Angelman Syndrome. What I am trying to figure out now is where in this chart does he fall, what "type"of Angelman does he have:


Table 1. Molecular findings in AS.

Type Angelman

I ~4.0 Mb deletion (65-75%)

II Maternal uniparental disomy(UPD) (3-5%)

III Imprinting defect (6-8%)

IV Point mutation UBE3A (4-6%)

V No defect identified (10-14%)

Some of you may wonder why it matters, and why we are being aggressive in getting more information. Well, from what I have learned so far, the level of disability in kids with AS seems to vary with the type of AS they have. I forwarded this chart to the geneticist and posed the question of where Joey fits in, and the above email was the response, which leads me to believe that either A) She just doesn't know and needs to talk to someone more educated in AS or B) He doesn't quite fit anywhere, which could have implications of its own.

Now, we're not kidding ourselves, we're not hoping unrealistically that maybe Joey will have some new type of AS that will mean he will lead a completely normal life. But in the quest for answers that I think all parents of a child with a disability embark on, this is just one more piece of the puzzle we'd like to figure out.

So we have a follow-up apointment with the geneticist on March 10th, and I am bringing Joey since she does want to examine him again now that we have a diagnosis, and from an academic standpoint Dr. V wants to see if there's something she missed. I am a bit disappointed that she is suggesting we follow through with the tests at Sick Kids in April, especially considering I had already cancelled them based on her advice and our pediatrician's advice. I may just wait until we see her in March before I call and reschedule them.

That's all for now. As my Mom said, the roller coaster continues!

For today there will be no sadness, just some new pictures of my gorgeous baby boy :)

Wow, What a Community!

I cannot tell you how overwhelmed I am at the influx of emails I've received fom the Angelman community. Not just "hi, nice to meet you"emails either....detailed histories of their children, links to their blogs or photo/video sites and most of all kind words of understanding and encouragement. If you're feeling low just check out some of the blog links on the left of this page, very inspiring!

After receiving a diagnosis like we did with Joey the immediate reaction for a lot of people, including us, was this giant sense of being lost. Not knowing where to start, who to talk to, where to get reliable information etc. Luckily for us we weren't lost for too long! There's lots out there to read but nothing is more valuable than what other parents of Angels have to say.

We are already so excited about the "Walk of Angels" fundraising walk-a-thon taking place in Montreal in May. Grandmere, Grandma and Papa have already said they want to come, and I have a feeling there will be more to join us. We so looking forward tomeeting so many of he people that have provided us support over the past few days.

It's amazing to me that this sweet little boy, who has no idea that his world is any different than it was a week ago, has this ability to bring so many of us together in such a positive way. In addition to "Monkey Boy"and Bubbin"one of the nicknames that Joey has had for a long time now is "My Sweet Angel Baby". Who knew how fitting this would become?!

So today we met with Joey's pediatrician. He didn't have much to tell us, except that we should cancel all of the tests that were scheduled for April 29, keep the appointment at Sick Kids Feeding Clinic on March 31 and forget about scheduling an EEG at this point. The geneticist suggested that this might be a good idea, since the majority of Angels experience seizures which usually start around this age, but he feels that this test would be purely academic at this point and we will treat seizures if/when they occur. We've contacted Erin, Joey's lovely speech-language pathologist, and are ready to move forward with this new information and are meeting March 6 to discuss new techniques and strategies to assist Joey to communicate.

Onward we go. We're still having good moments and bad moments, it's a lot of new information to take in, but I'm hopeful that our good moments will outweigh the bad sooner rather than later.

Tomorrow I will add some gorgeous new photos of my favourite subject :)

Joey and Angelman Features

Well, we are now about 24 hours + post-diagnosis, what a ride the past day has been! Many, many calls, both incoming and outgoing. My apologies if you called and no one answered, my emotions ran the gammet yesterday and sometimes I was coherant enough to carry on a conversation, at other times I wanted to shut the world out and be miserable on my own.

I stayed home from work yesterday and spent the majority of my time reading everything I possibly could about Angelman syndrome, there's some scary stuff out there! I was led to the Amercian Angelman site, and I emailed them for more informaiton. Within 12 hours I received a response with a list of parents in Canada with an Angel child, and since then have had a phone conversation with an amazing Mom to an equally amazing Angel (Thanks Erin!) who has been so encouraging and incredibly informative. I looks like one very positive thing that is already happening is our ability to connect with other people who TRULY understand what we're dealing with. Previously I had participated in message boards for hypotonia, disabled children and even just regular parenting sites, but because Joey's issues are so unique it is difficult to relate to a lot of discussions. I finally feel like we've found a supportive community where we belong, which is a huge step in the healing process.

So, as promised, here are a list of characteristics of Angelman Syndrome, and beside each I've made a note about how it currently applies to Joey:


Developmental History and Laboratory Findings

-Normal prenatal and birth history with normal head circumference; absence of major birth defects Yes

- Developmental delay evident by 6 - 12 months of age It was actually evident even earlier in Joey

- Delayed but forward progression of development (no loss of skills) This is absolutely Joey. he has always pregrossed, albeit slowly, but has never lost a skill

- Normal metabolic, hematologic and chemical laboratory profiles Until Thursday's genetic report with the word "Positive" in big letters there has not been a single test result that has abnormal

- Structurally normal brain using MRI or CT (may have mild cortical atrophy or dysmyelination) Joey's MRI at 7 months old showed a perfectly normal brain structure, with slightly delayed myelination

Clinical Features in Angelman Syndrome
Consistent (100%

-Developmental delay, functionally severe Joey is very obviously delayed, the severity seems to have increased as time passed.

- Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones This fits as Joey does not currently have any words. We are unsure at this point because of his young age how his receptive communication will be. We are encourage because to date Joey does understand 2 commands ("high five"and "bonk")

-Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs Well, this was the most obvious! His hypotonia fits right in with this description

- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span This is a tough one. Of course we all see that he has a very happy demeanor and frequently laughs and smiles, although not inappropriately in our opinion. He is not hypermotoric and doesn't flap his hands, his attention span is hard to guage at this point as he is only 2...what 2 year old has a great attention span?!


Frequent (more than 80%)

- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2 Absolutely NOT Joey. His head circumference has always remained constant in the 50-75th percentile. He does not have a small head no has it's growth slowed at all.

- Seizures, onset usually < color="#6666cc">Joey has never had a seizure

- Abnormal EEG, characteristic pattern with large amplitude slow-spike waves Joey has had only one EEG at about 6 months of age which was normal.

Associated (20 - 80%)

- Strabismus (unusual eye alignment) Joey has been examined by both a pediatric opthamologis and an optometrist, both who say Joey's eyes and vision are perfect. However, in looking back through some of Joey's pictures I see sometimes that one eye will seem a bit öff"from the other.

- Hypopigmented skin and eyes Definitely not Joey. Lots of Angelman kids are fair, blonde and blue-eyed. Joey has darkhair, dark eyes and an olive complexion just like his Mommy!

- Tongue thrusting; suck/swallowing disorders Joey did have difficulty coordinating his suck/swallow as an infant, but doesn't anymore. He doesn'thrust his tongue at all.

- Hyperactive tendon reflexes Not sure about this one. We've always been told his reflexes are normal

- Feeding problems during infancy Hmmmm..ya think?! LOL This has been an issue since day one and I don't imagine it will magically be fixed anytime soon.

- Uplifted, flexed arms during walking We won't know for sure until Joey actually starts walking, but even sitting he does tend to raise his arms, bent at the elbow

- Prominent mandible No

- Increased sensitivity to heat Jason and I disagree on this one. I've always said Joey was very sensitive to heat, Jason says ALL babies are sensitive to heat. We'll get back to you on that one!

- Wide mouth, wide-spaced teeth Joey has a beautiful, full mouth and lips. All of his physical features were measured in minute detail when we began the genetic journey and none of the measurements were abnormal, so the size of his mouth is just fine. Actualy, this is most puzzling to the geneticist, she saw absolutely no dysmorphic features at all that would indicate any genetic disorder. You can just call him structurally perfect :)

- Sleep disturbance Definitely not at all, ever! Joey has been a perfect age-appropriate sleeper since birth. He started sleeping through the night (9pm-7am) at 15 months old and I can count on one hand how many times he's woken in the middle of this night. He even naps like a champ, 2-3 hours every day at the same time. Frankly, I'm relieved to have skipped this one!

- Frequent drooling, protruding tongue The drooling with Joey has always been directly related to either being sick and breathing through his mouth, or teething. Once his last set of molars come in we'll see if it stops. His tongue doesn't protrude at all.

- Attraction to/fascination with water The jury is out on this one! I think Joey absolutely has an attraction to all things water-related and is fascinated by aquarium toys and his actual aquarium we got him for Christmas. He has always loved the bath and swimming. I think most kids get to a point where they hate baths, at least sometimes. However, other people like Daddy and Grandma who spend lots of time with Joey think that his affinity for water is nothing more than typical. Not really a big deal.


- Excessive chewing/mouthing behaviors Ummmm, totally NOT Joey! We would love it if he would put something, ANYTHING, in his mouth. He never does, food or otherwise.

- Flat back of head Absolutely not, it's completely rounded.

So, as you can see, some things just don't qute mesh. However, in the little knowledge I've aquired in the past 2 days I'm beginning to understand that there are different "classes"of Angelman, depending on how it occurred., and there is quite a variety of chacteristics and the severeity of those afflicted. Stay tuned for more information on that as we learn more.


So, Joey being Joey he has carried on as normal, no idea that anything in our world has changed, which is how it should be. That sweet little face...ah, it melts me.

Genetic Testing Results are In

It is with a very heavy heart that I write this post tonight. We met with the Geneticist this evening and received the results of Joey’s latest testing. Joey has a small deletion on his 15th chromosome and as a result has been diagnosed with Angelman Syndrome.

Both Jason and I were tested as well and it was discovered that this unfortunate alteration to Joey’s DNA comes from me, which in turn was passed down from my father. How this is so, and how it is that I also have this faulty DNA but am not affected like Joey is very confusing and requires many diagrams to explain properly but suffice it to say that it is fact. I have a 50% chance of passing this on the future children.

So after almost 2 years of endless tests and investigations we finally have an answer. The label of Cerebral Palsy no longer applies. In many ways this is a relief…many of the painful and invasive investigative tests that were planned for the spring are no longer necessary, we are so happy to avoid putting Joey through this. There is no longer an “unknown”, and we will not be spending endless hours trying to investigate the causes of Joey’s disabilities. We now know what impact this would have on future children. This is all very good news.

However, the sad part is that a little bit of our hope has been taken away. The hope that one day Joey would just outgrow all of his difficulties and catch up to his peers is not realistic anymore, and we will have to work towards accepting this. With a confirmed diagnosis Jason and I can finally begin to move forward through all of the stages of acceptance that we have not experienced yet, while we waited in this limbo of unanswered questions.

Now we start a whole new chapter of learning as much as we can about Angelman Syndrome. Luckily it isn’t as rare as some other genetic disorders so there is lots of information out there, as well as organizations that will hopefully lead to meeting other parents and children that we can learn from. Here are links to 2 websites with more information about Angelman Syndrome if you’re interested:

http://www.angelman.org/angel/


http://asclepius.com/angel/asfinfo.html

There are a lot of characteristics about this syndrome that don’t describe Joey at all, which is a bit puzzling to us and to the Doctor. When I’m feeling a bit more like typing I’ll post some more details as they specifically relate to Joey.

As I am often reminded, Joey is still Joey. He’s the same kid as he was when he woke up undiagnosed this morning, and he’ll be the same sweet, happy and charming little boy tomorrow too. On the way home from the hospital tonight Jason said to me “you know, if Joey was going to be diagnosed with a syndrome how appropriate that it’s got the word “angel” in the name”.

How right he is.

Joey's New Feet

Today was a big day...Joey had his final fitting for his orthotics! He was such a great kid through the whole thing, I just brought some toys to keep him busy for an hour. The receptionist said he was so quiet she forgot there was a child in the office!

Anyway, they seem pretty comfortable. We had to go buy new shoes since the orthotic adds a size. We went to three different stores, it was tough finding shoes that worked, but we finally found this adorable little pair of New Balance running shoes. As usual, Joey was a perfect little doll, letting me try on several different pairs of shoes without so much as a complaint.

So now we're one "step" closer to walking :)

Some Pics of Joey's New Feet

For some reason they didn't attach to my post below, so here they are. There is one at the orthotist's office, one at the shoe store and the other two show his little orthotic and how they fit into his new shoes.

Joey is a star...again!

First he was a model for an infant massage class, then he was on the news with Mommy and now....Joey appears in in "Awareness", a quartely publication from Simcoe Community Services!

A number of months ago we applied for funding for Joey's special stroller liner, and were denied at every turn. Our infant development worker, who has been involved with us since the beginning, knew of a special funding source called Bingo Funds, a small pot of money raised by charitable bingo games in our community. She did all the paperwork for us and the almost $500 stroller liner was paid for; she even dropped of the cheque to the supplier for us!

So of course I had to write a letter to the committee thanking them, and they published it along with Joey's picture in their publication which we received in the mail today!

It's a bit difficult to read the letter because I had to scan it, but here's what it said:

Dear Wandy,

I wanted to express my sincerest thanks to the Bingo Funds Allocation Committee for the recent approval of my family's request. My son Joey desperately needed the seat liner for his stroller and every other funding request we made was denied. The seat liner has allowed Joey to sit completely upright in his stroller and experience the world like a typical 18-month-old child can, a huge gift for him and for us!

I truly appreciate all of the help we received from our Infant Development Worker, who continues to be a huge support to our family.

I hope that once Joey is done using this special equipment we can pass it on to another child who may not otherwise be able to access it.

Thank you so much,

Pamela, Jason and Joey

That's all for now. Be sure to get Joey's autograph next time you see him, he's going to be famous one day!

Yay! A Whole Pound!

Joey had a check-up today with the pediatrician, he weighed in at 20 lbs 6oz! That's a gain of a pound since his last weight check in December. Dr. Kuzik is very pleased by this gain, as are we!

He still wants Joey to be assessed by the feeding clinic at Sick Kids in Toronto, since the feeding clinic at Royal Victoria Hospital here in Barrie wasn't much help. We know he CAN eat solids well, since he was eating like a champ last summer, so we're all very puzzled by the fact that he is getting almost all of his nutrition from PediaSure in a bottle.

That's all for now :)

A Long Awaited Update

A little (well, not so little!) Joey update for everyone! I've started this blog as a way to keep everyone in the loop :)

Physically Joey is making great progress. At the beginning of December he mastered being able to get from laying down to sitting up, and back down again. What an amazing step towards independence for him! He is also "army crawling", basically using his arms to propel himself around the room. He is standing with support and has just started trying to kneel. He can get into a hands and knees position but his head is just so darn heavy for him still! But we're working on it. Joey is getting fitted for ankle/foot orthotics next week, which should help stabilize his feet so we can work more on standing and taking steps. We're actually very lucky...rather than the type of orthotic that goes from the toes all the way up to just below the knee he is getting a smaller type that will be barely visible over the top of his shoe. Our physical therapist is very encouraging and is positive he WILL walk; it will just take more time.
Joey also found his voice just after Christmas and spends a lot of time "happily screaming", which is music to our ears. No words as of yet but we're working with a Speech-Language Pathologist on it and she's given us some great ideas on how to encourage Joey to make different sounds which will eventually lead to words.
As for medical tests, we've been busy! Joey, Jason and I all had our blood drawn in early January for a genetic test called a microarray analysis. Is the most advanced test in use today to look for genetic abnormalities, such as chromosome deletions. We're expecting the results any day now. We've also met with a new Neurologist, who is not 100% sure that the diagnosis of Hypotonic Cerebral Palsy is the correct one, and she has ordered several tests at Sick Kids in Toronto at the end of April. He'll need to be sedated for one, but not the other two. They are basically testing the conduction of nerve signals to the muscles.
So as we make our way to Joey's second birthday we are very encouraged by the progress he's made over the past year, and are looking forward to what is yet to come! He is still a very happy, content child who continues to amaze us with his perseverance and positive spirit.