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.