Saturday, August 20, 2011

A Morning of Appointments

Yesterday Piper had two appointments downtown. We had a genetics appointment at 9am and a cardiologist appointment at noon.

Our genetics appointment was at Sick Kids and it went well. The doctor ordered a few more tests which consisted of such genetic conditions as Zellweger syndrome (VERY BAD!) and Pompe disease (VERY BAD AS WELL!). Actually now that we are in the really rare genetics conditions its all bad. We don’t want Piper to have any of the conditions that she is tested for from now on. Most times these conditions result in death and there are no cures for any of them. We received the results from her last round of testing that neurology ordered and they were all good. Phew! Now I just have to wait 6 weeks to get the results of these other tests. FUN! He was also positive about her cognitive ability. She was smiling and interacting with him as well as playing with a toy. It was nice to hear him say that he noticed a big difference in her.

The doctor at genetics was really confident that the fMRI (functional MRI) that neurology suggested may be important in deciphering what is causing Pipers hypotonia. An fMRI is a newer technology in the MRI world. It not only looks at an image of the brain but can determine the brains functioning by looking at the blood flow in different areas. Blood flow is related to neural activity so we will be able to see if everything is working like it should in Pipers brain. This is the test that I am really worried about. Since neurology told me that they think Pipers problem stems from her brain I have a feeling that they may find something. This “something” that I am waiting for them to find is probably not good. I’m preparing myself for the worst but yes, trying to remain hopeful in the interim. We don’t have a date yet for the fMRI but the appointment relies on anesthesiology contacting me and making an appointment first. She will need to be put under for the test so they need to look at her health, breathing ecetera.

Our cardiology appointment was next and it was at St. Michaels. Piper had an ECG done when we arrived and we met with a wonderful doctor, Dr. Hann. She was very nice and you could tell she was sympathetic. I love when I meet doctors like this who seem like they care about and enjoy their job. Anyway, she listened to Pipers heart and told me that no the ECG she has a perfect heartbeat. Since Pompe disease has to do with the heart she told me it was very unlikely that the blood tests would come back positive for that. What a relief that was!

Next Piper had a Doppler Colour Flow ECG. It is basically an ultrasound of the heart and you can see different colours which represent the blood flow towards and away from the ultrasound device. It was really neat but it took forever. Piper fell asleep during the ultrasound, she was such a good girl!

After looking at the results from that Dr. Hann told me that everything looked great in Pipers heart. She did have one slight concern about her heart and it was that Piper has PDA (Patent Ductus Arteriosus). This is a very minute condition that happens with some babies. Before a baby is born there is a small vein that connects the two main arteries in the heart. This is because the mom does most of the work for the heart. After the baby is born (within minutes and up to a few days) the vein is supposed to close to allow the heart to work on its own. Pipers hasn’t done that yet. It has nothing to do with her hypotonia and the doctor thinks it will just take hers longer to close. Otherwise she said there is no precautions that she needs to take because hers is very very tiny. Great news!

I’m pretty hopeful right now but again I’m worried about the fMRI and what it may reveal. Piper is doing a lot better cognitively. She loves to smile, laugh and make noises. She reaches for toys and really interacts with people. Its a relief to see her little personality coming out but I do wish all these problems didn’t have to loom above me. Only time will tell I guess.

Thursday, August 18, 2011

Update on Progress

It’s been a couple weeks since I’ve written on the blog. We recently had our neurology appointment on August 2nd at the Hospital for Sick Children. Nothing really transpired from the appointment. We did wait there for a few hours while several doctors discussed Pipers situation and went over her various tests. Their conclusion was that the hypotonia was being causes in her brain. It wasn’t it her muscles or her spine. They also thought that what she has was there from conception, meaning that they think this is a genetic condition causing the hypotonia. It was nothing that I did or could have changed because she has always been this way. They said she is going to have developmental delays and other problems throughout her life but doctors never really know. I mean they can guess and assume what Piper will be like but they just have no idea. I’m trying to maintain my hope and prove those doctors wrong.

Next steps? We are waiting for an appointment for another MRI and we are going back to genetics. I was really surprised about how quickly we got back into genetics. After the coordinator phoned me and said she had an appointment for November I protested stating that I couldn’t wait that long to know what is wrong with my child! She called back a couple of days later and we are going in to see them tomorrow morning. We are also scheduled to see cardiology tomorrow at noon, so this should be interesting.

As far as Pipers development its been going well. She is getting stronger with her head control and the PT and OT are now working on her abdominal muscles to help her sit. The PT that we have is quite amazing with Piper and very knowledgeable about programs and services in the city. On request of the PT I am filling out a registration for the Easter Seals of Canada. I’m hoping to get some funding to be able to get Piper a car seat soon. The car seats can run about $4000 to $5000 so it would be great to get it paid for by Easter Seals! She is outgrowing her infant car seat and I don’t know if a store bought car seat will give her enough support. I have a representative coming in in the next two weeks to show me the seats and I can even try them in my car to see if they would be a good fit. In the meantime I think I might try Piper in Fynch’s car seat to see if it would work for her. Of course I’d have to turn it around and recline it, but you never know.

For now the neurologists have said that I am doing everything I can do for Piper. They suggest keeping up with all of her therapies and waiting to see how she progresses. Although they are time consuming I know they are the best thing for Piper. I really do rely on other people to tell me how she is improving though. Since I am around her every day it’s hard to judge how she is doing. The various therapists, family and friends are the ones that give me supportive words letting me know that she is doing better. I’m hoping for more progress within the next month!