Maya gets her stander and a medical update

Maya got her stander today! It only took 3 months, but we are happy it is finally here. All her cousins were at grandma's house at the time it was delivered, so they were all over her. Madi even said that she wanted one! Bryce, Hailey, Mason and Madi all took turns pushing Maya around the house. Once she gets used to it, hopefully she will start pushing herself around. We are very excited about finally getting the stander because until now she has only been able to use "the Monkey" stander on the weekends. Now she will be able to start using it daily. On the weekends she was really good about getting in it the suggested 2 hours per day, but now that we are going to be using it everyday, I am sure it will take some adjustment getting the 2 hours a day. This one is a 2-person job. I can't put her in it myself (since it doesn't tilt like the other one did), so we will have to put her in it first thing before Charlie leaves for work and first thing when he gets back. Or when she is at grandma's house during the week, we will have to allocate extra drop-off time to help get her in it. I know she will get the hang of pushing herself around. Its just a matter of time.

Medical Update: This is a good time I think to provide a medical update on Maya.

Meds: She has been on the medication for 3 months now. Everyone would agree that we are very happy with the results so far. We have seen no regression (which is what we were praying for) and we have actually seen small strengths. Small is small, like she is lifting her arms and waving them back and forth when she lays down. Before, I saw her raise her arms, but not for long and she definitely wasn't swinging them back and forth. She had lost the ability to pick herself up when she fell frontwards while sitting, but slowly we are seeing her strengthen in this area. She can't sit up by herself, but if I prop her up and give her a little help, she is doing more than half the work to get up. She is leaning further and further out of her base and not lifting her head as much when reaching for things. She is holding on to me with a better grip. I've never had that feeling before so I am really excited about that. She was crying the other day and wanted me to hold her. She actually held on using her hands/fingers and even a leg. It felt so good! What else...in the bath and in the pool, we see her moving her legs alot which is a good sign. Her therapists all agree that they are see improvement. This is remarkable considering the disease so we are keeping our hopes up for better things to come. We are going back to Salt Lake City in September for Maya's 6-month follow up with Dr Swoboda. Then we will find out just how good the meds are.

Equipment: So far we are the proud owners of a:

1) Standing wheelchair, the Rifton Dynamic stander

2) Cough Assist Machine

3) Suction Machine

4) AFOs (her pink braces for ankles and foot support)

5) Nebulizer

We are patiently looking into her ultralight wheelchair (the one in the picture below that weighs 8 lbs, a pulse oximeter, and a brace for her back/chest. In October, Maya will have a sleep study to test her breathing during sleeptime. This will tell us whether Maya will need a BiPap machine to help her breath at night. Please note that the cough assist machine and BiPap machine are preventative measures for Maya. The cough assist machine should be used on her twice a day when she is healthy so that when she is sick and has to use it every two hours, not only is she used to it emotionally, but physically. Same with the BiPap. I don't think we have to use this unless she gets really sick. The thought here is to set her up with everything she needs at home (respiratory equipment) in order to avoid any hospital visits since she could actually get sicker in a hospital.

There are several other items are looking into like: umbrella stroller with special needs support, adaptive toys (she can't push all the buttons on toys so we adapt them to make a switch), a special booster chair for the kitchen, a sitter with tray (so she doesn't slouch) so much when sitting and playing, therapy balls and wedges for the house, and a special swing. We plan on making a playroom out of our dining room and I hope that by the time my sabbatical is over, we have all the equipment and rehabilitation items we need and then we will just need to maintain them based on her current health status.

Therapy: Currently Maya is getting therapy 4 times a week. She has physical therapy (PT) with Texas Children's every Monday afternoon. On Tuesday mornings she was having aquatic therapy (AT) with Tx Children's, but that is over so we are going to start it with Medcare as soon as we can. Wednesdays she gets occupational therapy (OT) with Early Childhood Intervention (ECI). She is off on Thursdays and on Friday mornings she gets PT with Medcare. Just when you think she has enough on her plate, we are looking into a massage therapist and a perhaps speech therapy. This is what it is like having kids in sports perhaps and going to practice everyday.

Assistance: We are looking into getting a nurse's aid about two times a week. We are new to this whole thing, so it should be interesting. It will be nice to have a nurse's aid because then I can leave Maya with a trained medical professional while I am at work or running errands and this person will know how to use her physical equipment (stander/wheelchair) as well as help to administer her respiratory therapy and do her daily stretches. Her diet is also very concerning, so it will be nice to have someone with that "understanding" of what it means for Maya when she doesn't get all her vitamins/nutrients and how this can affect her energy and overall ability to fight the disease.

18 months old!

18 months old. Yes, our "baby" is 1 1/2 years old! We celebrated by opening a few more of her presents from Christmas and her birthday (yes, we still have some left). I said I was going to write a list of things she does (taken from Summer and KC's blogs as a template!) for her 18 month but I will have to wait until we go for the 18-month check-up so stay tuned. In the meantime, we took alot of videos today - showing some of her sign language skills, kissing a picture of herself and feeding herself with a fork. You can view them on our photo album here.

Visiting cousins

Since our last post Maya's cold got better, but she ended up with a fever of 101.5 on Tuesday night. Per doctor's orders we started her on antibiotics. We didn't take her into the Dr on Wednesday since she seemed to be doing okay with just a head cold.

This weekend was full of family visitors. My aunt from Pittsburgh, aunt from Alabama, and my cousin from New York came in on Thursday. Friday morning we were headed to Austin to see my brother and the kids, but we got a call from Grandpa John that one of the kids at the FSMA conference last weekend was confirmed with swine flu. I didn't sweat it at first thinking there was no way the child was in Maya's child care class but had John verify with the conference. He called back and said it was a child in Maya's class. Mona is a physician and said she likely did not get it, but since we were going to see 4 kids in Austin, we thought we had better check it out. office. We got right in with one of the other pediatricians. After a flu test and other checks, Maya does not have the flu, so no swine, but she does have an ear infection which explains the runny nose and slight congestion and fever. Once again an ear infection and Maya Bean offers almost no clues! At least we were cleared for going to Austin!

In Austin, Maya played with her cousins while all the ladies got to catching up on old times. After dinner, bath and bed for the kiddos, my brother, Krista, Mona and I went to downtown for dinner and drinks near and around 6th street. Unfortunately, a bad margarita got Mona and I and we were basically done for the night. At least we made it to two bars after dinner, but between that and the heat wave (still felt like 100 outside), at least we managed to stay out until 1. We got home, I grabbed Maya from her pack'n'play and cuddled up with her. I love being able to do that!

Saturday after lunch we headed back to Houston, stopped for dinner with my mom and the aunts again before we got home, made a quick stop by the house and headed to Lake Conroe for the night. We missed Madi's birthday party today but Charlie got to go and helped her celebrate turning 4. In Sunday we took the boat (or as Maya likes to say "boap") out and had lunch on the water before heading to the airport to drop cousin Mona off. Busy but fun weekend.

Just a cold (we hope!)

Maya woke up all gunky today and we did another neb treatment and more suctioning. I made an appt with Dr Bhakta for the morning. Although she sounded rough this morning, her oxygen levels are in tact and her lungs sound great. Hoping this stays in the head and doesn't get to her lungs. She was pretty tired the rest of the day, but she didn't have fever, so I still took her to PT today. She didn't perform as well, but she still got a good session out of it.

When we went to the pediatrician today, I found out some bad news. Dr Bhakta's nurse, Daradeth, was killed in a car accident last Saturday. She had one of her grandchildren in the car (who is still in a coma). I am still shocked. We really liked Daradeth. She is one of the only nurses that really took to Maya and learned about SMA. Her and I were planning on gift ideas for Dr Bhakta (I wanted to thank him for all he has done for us). She even gave me her cell phone number if we ever needed her on the weekend or nights. In fact, I was about to call her last night when we got home from dinner. She was going to help teach us how to use Maya's respiratory equipment, too. My heart goes out to her family and her 15-17 grandchildren. I will certainly miss seeing her when we go to the pediatrician.

Our first FSMA Conference

Another long post, but we want to document our experience. If you want to skip the lowdown on the conference, at least check out the pictures here. The video of Maya driving a mobile stander is too big to post, but keep checking our photo site for that after I edit.

Thursday
We took the itty bity Continental ExpressJet flight to Cincinnati, which by the way, actually lands in Kentucky. We got lucky and were able to have an empty seat for Maya to sit next to me. She fell asleep for about an hour thank goodness so the flight was pretty good. We got in our mini van rental (Charlie and I might as well start checking these out since we will have to buy one soon...yes, a mini van. Who would have ever thought. Think wheelchair lifts...). We were lucky enough to have enough grandparent support - here is Maya, Grandma, Nani and Grandpa.

After settling into the hotel, Hyatt Regency, we headed to the plaza for some dinner where Maya ate our entire appetizer plate of SPICY spinach cheese dip. She wasn't very happy when it was "all gone".

We headed to the first event of the conference. An ice cream social. One cannot describe the chaotic-ness going on in this room. It was a mix of emotions for sure. You can tell people were happy so be seeing each other again, but we were just looking around at all the kids, mainly the Type 1 kids, and couldn't help but be grateful that Maya is Type 2. Our heart really does go out to all these families and what they have been through and continue to go through. It was nice to meet with some other families. We met this nice family from Kansas City who have a 19-month old who is a Type 2. She was in this mini wheelchair and wheeling herself all over the place. She just took off and her dad had to go after her. It was neat to see such a tiny little thing exploring in her little chair. We all went around and met a few other couples before getting the very tired Maya to bed.

Charlie and I took advantage of babysitters and headed to the movies. We saw Hangover. Seriously a funny movie. I haven't laughted like that in a long time. Good choice Chuck!

Friday
Prior to the first general session, we dropped Maya off at the childcare. We were happy to see so many volunteers in the childcare. Maya was happy to play with other kiddos her age that weren't walking and crawling all over her!

The general session had 3 speakers:
1. FDA orphan drug dept - SMA is a rare disease so there is a special act to protect the rights of making drugs for orphan diseases. Most companies don't want to fund rare diseases since there is little to no profit so this department seeks various avenues rare disease advocates can take to get drug treatments out there.
2. Another speaker from the national inst of health spoke about the importance of newborn screening of SMA and other childhood genetic conditions. The thought here is that drug intervention has better success before symptoms present. Like the drugs Maya is taking. Had we given it to her when she was 4 months old, we could have delayed any of the functions she has already lost. What we wouldn't give to have found that out earlier! We did what we could in the time we had so no regrets. I do believe in this group's advocacy of newborn screening though and would love to talk to Maya's ped about it.
3. Final speaker was FSMA's lobbyist. He spoke about what we can all do to help support the SMA Acceleration Act of 2009. There are 3 ways to help - write, call or travel to DC. I ask all of you to help with at least the calling part. I will post intructions later on what we can do.

The first breakout session Charlie and I went to was for Type 2 issues. Although it was very informative, I think I teared up three times and Charlie thought he was going to be sick. We may have been the only newly diagnosed family in there. They were talking about issues that Charlie and I are years away from like school, but hearing all of it really overwhelmed us. As one mom put it, "we are still living in Disneyland" meaning that we are a bit in denial. I know we are and its just going to take a while. We are trying to make our life as normal as possible, but when it comes down to it, it just won't be like everyone else's normal. Everyday will come with twice daily respiratory therapy, twice daily stretches and exercises, daily therapy appointments (PT, OT, AT), twice daily medicine giving, daily nutrition and caloric intake analysis. All this is going to take a while and we know that. We are just introducing a little more and have come really far since January we think. We will be lucky to have the healthy times and have to be well prepared for the sick times and all the surgeries - which may not come this year or next, but they will come eventually. Its just the disease taking its toll and we have to be prepared. I am convinced that we need a mentoring family but they are all so busy, too!

The grandparents went to their special session and I heard it was very well worth it as well. Just as many grandparents there as parents. Really shows the support that each SMA family has. The afternoon breakout sessions were on orthopedic mgmt (which went WAY over my head since they were talking about spinal surguries to correct scoliosis), a session on aquatic therapy/assistive computer technology, a toy adaptation session (where Charlie dismembered a bubble-blowing cat so that Maya bean can blow bubbles easier). The same family with the 19-month old was in the toy class so we asked if we could put Maya in her wheelchair. It didn't take but 5 seconds for Maya to figure it out and she was wheeling herself.

The company that makes Standing Dani (a standing wheelchair) was there and had all sorts of trials. Maya got in the mobile stander and had a great time. Like watching her walk. She used a joystick for the first time. We got all of it on video. It's long, but well worth the watch. She was running into EVERYTHING. I don't think anyone can expect a 17-month old to "drive" so I think she did pretty good for the first time.

We finished the night out at the banquet where Maya was in rare form. It was nice, too, because speaker #2 was sitting at our table and so was the rep from MDA (Muscular Dystrophy Assoc). They got to see many head throws, throwing food, paper, toys on the floor, and to top it off, Maya eating ketchup with her bare hands. Fun stuff.

Saturday
This morning's general session was extremely beneficial. They had a panel session. First with some teenagers, then with young adults. I am not sure why I had a hard time keeping my eyes dry, but I really was so emotional. And not in a bad way - totally good things. To see what all these people have done with their lives was an inspiration to me that we cannot focus on Maya's can'ts, but all of her can's. She can do anything she puts her mind to, adapted yes, but anything her heart desires. Lesson learned from this meeting. The types don't really mean anything after meeting all the people this weekend. We met and listened to some Type 1s who were in their 30s, married with children and heard of Type 2s who used to walk into their teens! It didn't make sense so now we know not to get so hung up on the "type" thing. Every single SMA child is unique. EVERY single person. We did not meet two kids/adults with the same circumstances. Just within type 2, I think there are like 50 different types.

Breakout sessions were a little more manageable today. Morning session was about nutrition and afternoon and about therapy, stretching, equipment tips. Charlie and my mom went to the session on keeping your lungs healthy and what to do in sickness and surgery situations. Thanks to a migraine, I self-nominated myself to catch a nap with Maya and Charlie while the grandparents attended the last session with the researchers.

We went to dinner at a nice restaurant by the water, finished the night out by bumping my head and practically giving myself a concussion. I am still bruised and cannot comb my hair on top!

Sunday - Happy Father's Day!
This morning we had a general session and panel. The first was providing an update on the latest research (things they recently found out about SMA and SMN protein). It sounds like they have come a long way since 5 years ago. The second panel was the most interesting to us. It was about stem cell therapy, the latest and greatest drugs in the works, and gene therapy. Honestly, I am still a bit confused on the difference between gene therapy and stem cell, but I think in gene therapy, they are actually injecting the missing SMN1 gene, whereas stem cell, they are injecting "generic" stem cells and these cells will make motor neurons (not the missing gene though). The last one was about clinical trials. We ducked out of that one early and got ready to leave for the airport. We really enjoyed the conference and glad that we were able to go and take Maya and the grandparents. Although things got emotional at times, it was very informative and we came back with good notes and made some friends.

Maya woke up with a cold and slowly as the day went on got worse and worse. When we got home we headed to dinner to take out Paw Paw Bill. Maya was just getting worse. No fever though so that is good. That night I could feel the congestion when she breathed. We started a nebulizer treatment without the albuterol. Maya wimpered when she saw the machine and mask. We have to look past that now since this is just going to help her. We put the mask below her chin like we've done in the past so that at least she would get a steam bath. She enjoyed watching Dora during the treatment and we were able to get over 20 minutes in! We literally just got our cough assist and suction machine, but we didn't have time to put it together, read the instructions, etc, so I just had to use the good ole blue ball for her nose - of course she hated it! When we put her to bed, she was at 99.9. Gave her Motrin just in case it went up and put her to bed (and me, too). Maya tossed and turned for about 3 hours before we decided to put her back in her crib. She slept just fine afterwards.

A surprise engagement

Tonight we all went to Chuy's for dinner because James, Valerie's boyfriend, wanted to ask everyone in the family for their blessing before he proposed to Valerie. Well, Gayla brought the ring to the restaurant for everyone to see, so instead of this just being Valerie's birthday dinner, it also became an engagement! James was going to save the proposal one or two more days or perhaps even in Costa Rica, but with the entire family at dinner, he thought he would just go for it. So we conspired with the waitstaff to put the ring in her birthday cake and there it went. Congrats to Valerie and James!! We all wanted to help them celebrate, so grandma and paw paw ended up with all the girls (which by the way, Maya had so much fun that she didn't even want to say buy to me!)

Other stuff going on...Maya finished her aquatic therapy at Tx Children's last Tuesday and we will be starting it at Gayla's house next week with her other therapist. We are very excited that we can continue aquatic as we keep hearing how great it is for these kiddos. She had her final assessment for the aquatic at Tx Children's and we tried all sorts of different support devices for Maya's chest/back. We tried a spio, the theratogs and even kinesiotape (which was ridiculous to get off of her back - my poor girl). I'm still not sure what we will go with. We had submitted an application to the Scottish Rite hospital in Dallas (as a referral from a friend of a friend in Corsicana) and found out that Maya was not a candidate for the program. I guess its actually a good thing that Maya doesn't need any orthopedic treatments at this time though. I did note that there are doctors in Dallas that could help Maya out on the orthopedic mgmt front, so we will keep those numbers handy. We got word that Maya's stander was approved and we should have it by the end of the month. Can't wait! We are headed to the Families of Spinal Muscular Atrophy Conference this Thursday in Cincinnati and are very excited.

So many kisses!

Charlie and I are just LOVING this! Maya gives us kisses all time. Tonight takes the cake. I was sitting next to her on the couch and she was playing with a toy. I just played with her hair and told her I loved her. Next thing, she turned over to me and did the "mmmmmmwa" while she kissed me right on the lips! Of course Charlie got all jealous and joined us on the couch. The next minute was a kiss for me, then Charlie, then me again. Play with toys. Kiss me, Charlie and me again. She did that for about 4 rounds. I love this! She is associating us telling her we love her and either reaches out to give a kiss or blows us a kiss. It is the best feeling (so far anyway).

I love this age so much. Maya is just nodding so much and you can tell she understands what we are saying to her. She is using sign language for "please" and "all done". When she is done eating, she grabs the napkins/washrag I use to clean her up and she imitates everything I do: clean her mouth, then her hands, and then the high chair tray. If you tell her to wipe her mouth, she understand and wipes her mouth. When she is tired and ready for bed, she'll do the sign for sleep. Sometimes over and over. Its nice because then we put her in her crib and she doesn't make a peep about us putting her down.

She is certainly showing her personality and we are happy to be communicating with her, even if she isn't talking back all the time.

Finally allowed to ride forward-facing

Alas, Maya is 20 lbs. It took FOREVER for her to get there, but now we just need to keep the weight on her. We'll find out in a couple of weeks where she ranks on the charts, but I think most kids are there by 1 year. Charlie turned his carseat around and installed the new Britax carseat in my car. Its funny because we put Maya in the Britax and we still have the other car seat installed just to test out the new seat. Maya got sad and pointed to the other car seat. She wanted to sit in her old one. I guess she got used to it after 17 months! We thought she would be really excited though because now she can see us and we can see her alot better. It does come with some issues though - now she can see when I am on my phone or blackberry and insists on me giving it to her.

Some of last week's events:
Last weekend (weekend after Memorial Day), we headed up to Lake Conroe with Grandma and Paw Paw. Maya really enjoyed being on the boat and loved the waves, rougher the better for her! She even pointed to that most uncomfortable life vest so she could go on a boat ride. We were trying to teach her how to say "Paw Paw boat", but all we got was "pa pa". That was all Paw Paw needed to make him do whatever his little granddaughter wanted! I took her to the pool and we practiced some aquatic therapy. She enjoyed it when I threw a ball and then her and I chased after it over and over again. She felt like she was running I guess!

On Monday, Maya did really well at therapy. Deb, the therapist, was impressed on how well Maya is doing. We put her on a bench and a bigger play bench in front of her. Maya was able to sit on the bench and balance herself for a really long time, while also playing with her toys. To make it harder we replaced the bench with a balance ball (the peanut ball) and she did really well on that, too. You can tell she was working so hard and really trying to put some weight on her feet. This isn't the first therapist to comment on how well Maya is doing. Tyler and Kristin, her other therapists, are saying the same thing. It just really uplifts me to hear that. They said the medicine would take 3-6 months, but its only been a little over 2 and it seems to be "working". I hate to jinx it, so I will stop here.

Costa Rica here we come! Paw Paw has been trying to talk us into going to Costa Rica to check out the stem cell clinic there. Just to update everyone, this is the same clinic that his friend's friend went to from Dallas and is pretty much completed healed from MS. Charlie and I were having our doubts about going through with any of it, so Paw Paw offered us an look-see trip to Costa Rica. At the same time, Grandma was looking into taking a family vacation this summer. We put two and two together and we now have a family vacation to Costa Rica in July. Charlie, Maya and I will take a daytrip to visit the clinic and talk to the doctors. Here is a link to the incredible, all-inclusive villa we are staying at (http://www.villaestrella-costarica.com/). Everyone in the fam thought it was too good to be true, but we are booking tomorrow :-). We will be celebrating three birthdays on the trip - Amy and I are turning 30 - ouch - and Paw Paw will be 21 (plus 40).

p.s. about the clinic - we haven't made any decisions yet and I know everyone has questions and comments about what they are seeing on TV, etc. Trust us - we know what is out there and we are keeping up to date on the latest stem cell therapy (SCT) do's and dont's. If anyone knows Charlie and I, we can't even buy a mattress without researching EVERY single thing out there for weeks on end. SCT isn't something we will be impulsive about.