Friday, February 29, 2008

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!


J said...

Hi - a friend of mine sent me the link to your blog. Your son is beautiful! I can relate to your story although our's is somewhat different. My son was "officially" diagnosed with Prader Willi Syndrome (another genetic defect of the 15th chromosome - in his case UPD)on Sept. 21 at 5 weeks of age. We knew it was coming since he clinically presented with all of the symptoms, including severe hypotonia, but it hits you like a ton of bricks no matter what. Like someone just punched you without warning. Angelman was also considered so it was very interesting reading what you've learned. I must say the parental support has also been key in keeping me positive. For me, with an infant, it was so important to see photos and meet older children in order to understand that he would have a future, a different one, and that he was going to bring so much love and joy.

I just wanted to say Hi - welcome to Holland and all that jazz people like to say - but mostly to say that it sounds like Joey has a great family and you have a great attitude! I got to the point that I just decided I could either let the diagnosis rule/ruin our lives or I could just jump in head first and make his (and our family's)life the best possible. It's my new mission....good luck and I'll keep checking for Joey's progress and adorable pictures!

Warm regards,

Anonymous said...

To Jeannette
HI. I'm Joey's paternal grandmother and your note touched my heart. Your goal to make your son's life the best possible is mine as well for Joey. Joey is a treasure, he brings complete joy to his Papa Roy and me. I'm sure you and your family celebrate every step forward you son makes.
Joey has to work so hard to accomplish what the typical child does without thinking, so to me he is a hero. He never gives up, he is always reaching to do more. We encourage him and love him unconditionally. Your son will bring pure joy to your lives. I hope you start a blog so I can keep up on all the steps forward. And there will be many. You are fortunate to have family support. I feel so lucky that Joey's parents allow me to share their up's and downs. WE all love that sweet little man. As I'm sure your family does as well. Joey has brought us all together. What more could you ask of anyone.
Best of luck on your journey.
Gramma Phyllis

Sarah said...

Hey Pam! Well, I'm sure your frustrated with all the ups and downs, but you are handling everything brilliantly. I really hope Joey doesn't have to go through with the other tests, but as I always try to tell myself with Avery's tests, if it gets us closer to the true answers, then we'll do it. Hopefully not too much longer before you have definite answers.

I also came across this recent article about Colin Farrell's son and I just loved how he explained everything. :)

Sarah said...

Oy...the link would be helpful, huh? ;)

Pamela, Jason and Joey said...

Hi Jeanette,

Thanks for your email, and your comment on our blog. My mother-in-law was touched by your comment and left you a reply :)

Maybe you can actually help me with something...the reference to "Holland"...I don't get it! There's a special group of Moms on a board I frequent called "Holland Moms", all with children with some sort of disability... I never questioned the term, but now my curiosity has gotten the better of me!

I appreciate everything you said. I was surprised at my reaction to Joey's official diagnosis. He's almost 2 years old, and we've known all along something wasn't right, he even had the label of cerebral palsy at one year and I didn't react the way I am now. Maybe because CP is so broad, it really didn't tell us much about Joey's future. With the AS diagnosis, as I'm sure you can relate to, I feel like all of our hopes and dreams for Joey have vanished. I know we're still in the process of grieving, it hasn't yet been 2 weeks since our diagnosis, and I know I will begin to deal with this differently in the future. But for now I burst out into tears when I have to tell someone about Angelman, which is why the blog has been so great...I'm able to tell lots of family and friends all at once what is going on and remain tear-free :)

Joey was tested early for PW as he initially seemed to present more like the classic symtoms of PW; I guess the hypotonia threw us all off the track. It's not listed as a symtom of AS, just "movement disorders" which is much more vague and doesn't show up when you google "genetic syndrome hypotonia".

How is your son doing? I've been down the severe hypotonia road for 2 years now, with all of it's associated problems like feeding difficulties (or feeding nightmares, as it happens) and at almost 2 Joey isn't yet walking. If you ever need to chat about anything feel free to email me, I think it's therapeutic to help others. The hypotonia has been our biggest challenge to date, and we've been through several therapists, special equipment etc. so I'm sure I could be of help.

Thanks again for your email, I really appreciate all the support I'm getting from people we've never even met :)


Laurie said...

Hi Pamela~
So glad to keep up with your blog. What a wonderful mommy you are and I love those photos of Joey! I hope Dr. V is able to get the answers you need to clarify their findings. Sending prayers your way, that they will get those answers for you. As for the Holland reference. Here is the poem that they are talking about.
"Welcome to Holland"
By Emily Perl Kingsley, 1987. All rights reserved.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very very significant loss. But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Pamela, Jason and Joey said...

Laurie, thanks for posting that. It brought us both to tears. What a great analogy for raising a special needs child. I've emailed it to all of my family and friends :)