First trip to SLC to visit SMA specialist

Wednesday, March 11th:

Today we arrived in SLC to visit Dr Swoboda, one of the leading SMA specialists in the country. She heads many of the trials and is on the board for one of the stem cell companies. She was recommended by several SMA families as she has devoted all her research and clinic to SMA patients. She will evaluate Maya on the basis of putting her on the leading drug therapy for SMA children. We will see them tomorrow and Friday and head home Saturday. Charlie, Maya, my dad, and Charlie's mom went. Our flight here started out interesting. Maya was so tired that she was a little edgy after we took off. I was trying to put her to sleep but she didn't want me to, so off to grandma we go! Grandma had her asleep in no time! Then arrived the wicked witch. One of the flight attendants had told Gayla and Charlie that in case of emergency we should move Maya to the other side of the plane, but he didn't make us do it. they didn't tell me and my dad, so when the witch came over and told us (again) we asked why and she went off on us. Said it was federal regulation to have infants on one side of the plane and that we needed to move her but that she couldn't force us to. She went away and then came back when we didn't move Maya yet. Keep in mind, Maya was sleeping this entire time. Oh no, the witch demanded that we move her and even took my dad's boarding pass to write him up! Needless to say it caused a scene on the plane. So then Maya woke up and fussed for the next half hour. Of course we couldn't get her DVD player out since the witch also turned on the fasten seat belt. Luckily Spngebob played for the last part of the flight and we were good to go. Phew! it wasn't as cold as we thought and Maya enjoyed the cool breeze on her face! Hope tomorrow goes well!

Thursday, March 12th:

We arrived at Primary Children's Hospital right at 8:30 and were greeted by Abby, one of the clinical nurses with Swoboda's clinic. We got Maya weighed and measured (18.8 lbs and 29 in) and then took us back to our clinic room and more coordinators/students were there to greet Maya with a DVD player and bubbles. They began with questions re history and Dr Swoboda walked in around 9. They verified the sedation medicine, Versed, dosage and I was able to squirt it in Maya's mouth. Verset is a medicine that makes her loopy and in a sedated state so they could do the EMG test. They are not supposed to remember anything, but it has been known to cause temper tantrums.

The first test they did was administered by Dr Swoboda herself. It was a different version of an EMG that Maya got at the Mayo Clinic. Instead of little needles poking her and testing her nerve/muscle activity, they put a couple of stickers on her arm and hand. It tested the number of motor neurons they think she has among other things. Her report shows that her motor neuron count is pretty low. Not what we wanted to hear but we also had to keep in mind that it is just an estimate and was only tested on her arms. Dr Swoboda indicated that it is our primary goal to stimulate as much as we can from the remaining neurons and that the mediciation should help to preserve what she has.

After the EMG, we had to take another blood sample. I had thought we were done with the bloodwork, but this was for a DNA study and could be used to help her in the future. They couldn't find a good vein in her arm, so they told us they had to get the blood sample from her groin. I almost fainted thinking about it. It turns out that a lot of SMA kids have a hard time getting blood (which explains all our past experiences) and they have to do it this way. Of course, Maya's medicine started to wear off at this point so she was not happy. She had a bad reaction to the Verset and literally had a temper tantrum for the next 45 minutes. We were trying to chat with the doctor, so Gayla was trying to calm her down and she finally went to sleep!

Meanwhile, we had a Q and A session with Swoboda. She indicated that Maya was a great candidate for the valproic acid, Depakote. We asked about other drugs and this was just the best out there. Of the 3 drugs that are out there this one has shown good results in kids her age diagnosed with SMA. We hope at a minimum it will stop the progression & buy us some time. Then, there is a chance that she will be able to regain some of the strength that she may have lost over the past several months. We should see some results in the next 3-6 months. There are of course dangerous risks from the medication itself which requires a blood test 2 weeks after we start, then 3 months, then every 6 months. This drug is used for other illnesses other than SMA, including children that suffer from seizures.

We talked a lot about nutrition and what her food diary showed along with her blood tests. It shows that Maya is iron, calcium, Vitamin D & some amino acids deficient. She recommended getting Maya back on her multivitamin which sounds easy enough, but we will see. Nutrition is one of the most important aspects of her maintenance. We have to try to keep her weight down if at all possible & give her a well rounded diet.

The next test & final one of the day was a DEXA scan. Maya was still under the influence of the sedation drug & did not appreciate going through another test even though there was this test was painless. This scan was to get an idea of her bone development and lean/fat mass. Her bone development was good & her fat mass was not as high as expected. So, good news from this test. Now, we need to keep her on this path.

We left the hospital as soon as this test was done. We ate at Olive Garden & decided to head up to the mountains! We first visited Olympic Park. Maya went to sleep on the drive up the mountains & Mom & Gopi took turns in the car "watching" Maya as she slept. We caught Gopi in the car sleeping with Maya. I am not sure who was watching who in that instance.

We thought about ziplining down the ski jump, but we decided we would wait until next time when maybe it is a little warmer. We then drove around Park City & thought about how we should have brought our ski clothes. We got out to take some pictures with Maya in the snow (which by the way she did not like), then headed back to SLC.

Friday, March 13th:

Today started at about 9:30 in the morning with a meeting one with Dr. Swoboda's physical therapist Donata. Again we went through her history, discussed equipment, and she did an eval. The eval was specific to SMA & will be used as a baseline when further evals are done in the future. Maya was in a great mood as she showed off her usual squinty smile & enjoyed playing with the therapist's moracco. Donata was impressed with Maya's head & trunk control, so that was very good to hear. So, some more good news!

After the eval we went to eat a light lunch & Maya slept on Gopi's chest while we ate. Then, it was back to meet with Dr. Swoboda & Abby. We discussed the details on the prescriptions, how to administer the drugs, etc. We also had a chance to get her thoughts on stem cell therapy. They planned to start human trials on July 1st of this year, but with the recent story that a boy got a brain tumor from an injection in China that timeline is in question. The FDA may require them to do more testing, etc. before starting on SMA patients. When they do start the trials the plan is to start with SMA Type I patients between 0-3 months. So, it may be awhile in the US before we know of any trials on Type II patients. Finally, we discussed respiratory care and how she likes to be more proactive then reactive in this area. She wants us to get started on using certain devices/machines, so that Maya will get use to them. Then, when she is actually sick that it should be easier to use them as opposed to if we were using them for the first time. Abby showed us how to use one of the machines, Cough Assist. It wasn't pretty, but over time we will all get used to it - even Maya.

They want to see back in 6 months where they will re-do all the same tests. Maya is now part of a research study to measure the progression of the disease.

Finally, the visit was over and we could relax and enjoy SLC. Its been cool here, but not a cloud in the sky and the sun really warms us up! We drove around downtown a little more, enabling a quick nap for the Maya. We saw the Mormon temples and even stopped at the outdoor mall. Maya enjoyed being outside watching all the other kiddos and watching the water fountains. She most enjoyed the elevator ride back to the car since it was all glass. Lots of talking went on. She sure has been babbling a lot lately! We tried PF Changs for dinner but apparently everyone in SLC wants to eat there so we went to Benihana instead. Maya not a big fan of the entertainment and ended up in many a lap for the duration of dinner. She does however love fried rice.

Saturday, March 14th

We were able to sleep in today since we had no appointments. Maya even slept until 8 am. After breakfast & a Maya nap we left the hotel about 12:30 pm. We headed over to the Gateway Mall which is a very nice outdoor mall that was one of the many things that was built for the Olympics. We walked around a little while & then went to lunch at a Brazilian steakhouse. The food was very good & the even better part is that Maya ate some steak. Gonna have to figure out a garlic steak recipe for home b/c Maya loved it! We were so happy that she ate some beef that we took some with us for the plane ride. Then, we piled into the little Saturn with our luggage only to find out after we got on the highway that our flight was delayed. Maya did not enjoy the first 30-45 minutes of our flight. Maybe she was feeling the effects of the change in air pressure, but we finally got her calmed down when we got SpongeBob on the laptop. The delayed flight meant we would not land in Houston until 10pm and Maya finally went to sleep around 9.

Overall, the trip went well. All of our appointments were for the most part on time & we got to spend a lot of time with Dr. Swoboda & her team. We had some time to sightsee, too! We really appreciated Gopi & Gayla coming along since they were so much help & they were able to hear everything first hand. We are very happy that we made the trip since we got so many of our questions answered and were made aware of some many things that had never been brought to our attention in all our readings, other visits, etc. We now have access to team that is dedicated to SMA & will be available to us whenever we need (although from long-distance). They told us to contact them whenever we had any concerns and/or questions & they would be happy to help us. Most importantly, we left SLC with a prescription that will hopefully improve Maya’s motor neuron activity & will help her to re-gain some strength. Our plan is to head back to SLC in late Sept-early Oct for our next visit/check-up.

See all the pics here.