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!