Maya Updates - Jul 2010

Maya updates:
On the medical front, we have ordered her power wheelchair, starting looking at wheelchair lifts for the car, we have NOT started looking for new cars though so that kind of takes precedent over getting a lift. We've looked into getting ramps for the house, a bath lift to save our backs, and Maya a mattress that will fit her needs for her transition to a big girl bed!

Just look how she has grown in one year. She has grown so tall and that hair is getting so long.

Maya is talking so much now. Her sentences are getting better and better every week and we are just amazed about some of the phrases she is picking up. We do still get mumbling, but she is trying hard to get the words together. She has always loved music and us singing to her, but now she is picking up on the words to the songs even better. She knows all of Jesus Loves Me, Happy Birthday, and Rain, Rain, Go Away. Lately, her favorite songs are the three mentioned, Big Girls Don’t Cry, Rock a Bye Baby, ABC song, and Hush Little Baby. She changes her top song almost weekly and when we do her cough assist she tells us which song will help get her through the treatments.
She let’s me know loud and clear when she wants something to eat. One time, she left her playroom, wheeled into the kitchen and stopped at the stove where I was cooking dinner, looked up at me and said “Mommy, FOOODD”. I guess she was telling me to hurry!

Maya is definitely ready for potty training. Yvonne does a little with her here and there and my mom has been taking her too. Honestly it’s been a struggle for me because holding her on the potty is a bit exhausting for me. BUT, she wakes up dry most mornings and after naps and shows interest on going to the toilet. Now, me and Charlie just need to get on board and make it happen. Maya if I just take off work for a whole week and keep us in the house as much as possible we could get something started.

Her pallete of foods is starting to increase. Maya still very much dislikes any type of fruit (any type), cake, ice cream. Pretty much anything sweet. She does like banana bread though, so I have recently added that to the baking list. She will eat an animal cracker now and again and maybe some Teddy Grams, but honestly, it isn’t much on the sweets. Which is great, right? Why am I complaining? I’m not, except the fruit part. So in an effort to lessen the amount of V8 fusion and orange juice she gets in the morning (we only give her 8 oz a day as it is), we borrowed my mom’s juicer. We tried mango and peaches. That was a no. But the other day, tried apples and peaches and she was drinking away. Now if I can get myself to make her fresh juice a few times a week, she will get all those fruit servings in without the sugar from the juices! Cheese is still the big priority food for Maya. Anything with cheese on it suits her. We have grown a little from the enchiladas and quesadillas. She is starting to eat more of what I make for dinner. One week she ate the cheese and jalepeno stuffed chicken with black beans and Spanish rice, the next day she ate two tacos with ground beef, beans, lettuce, tomatoes and cheese, and the next day she ate my chicken alfredo and yellow squash. AMAZING! I think eating at the table as a family really helps. She still loves soups, grilled cheese sandwiches, eggs every morning, peanuts, almonds, goldfish, spinach, most Indian foods, and rotisserie chicken. It has been fun trying new things lately. A lot of work, but if she will eat it, I will make it! This week

• She is like the sweetest little kid I think I’ve ever met. Okay, maybe I’m a little biased, but really. She says thank you to you all the time. Says bless you anytime you sneeze, if I look like I’m hurt (pregnancy issues), she always asks if I’m okay, gives out hugs and kisses to no end and says love you to us even without us saying it first sometimes. Recently when we have been eating dinner at the house, she thanked me for making her pizza and then for her sprite (which was a special occasion type of a drink), she thanked me for washing her hands and mouth after the meal. I really think she said thank you more than anything else!
• Affection – As I mentioned with the hugs and kisses, Maya is a very affectionate person. She adores my belly right now and tells me to come over to her so she can kiss her baby brother. Then she lays her head on my stomach and pats it and says “ooohhhhh baby brother…love you baby brother”. One of the sweetest acts of affection is when she is sleeping with us or we are taking a nap with her. She will wiggle over to you, snuggle up and put her arm around your neck and pat it like she is consoling or putting you to sleep. As much as we like having our own bed, there is nothing in the world that can replace that feeling!
• Every night when we lay her down for bed we say, “would do you say?” and she replies back with “love you” and “morning” for see you in the morning. And a kiss and then lights out. She often asks if we are going to “sleep me” (are you going to come sleep with me?).
• Pacifier progress – about a year ago a few therapists told us that her keeping a pacifier wasn’t a bad thing for her considering she was constantly exercising her jaw muscles (which so many SMA kids lose the function for). So we didn’t fight it and kept it in. Well, now that we have a chatterbox, there is probably no need for it, especially during the day, so we are taking baby steps to saying bye bye. We started with readiing her the “Bye Bye Pacifier” book. For which she thoroughly enjoyed as she held on to her own paci stronger. We started to tell her that she was a big girl and didn’t need it anymore. When we asked her if she wanted to give it to her brother, it was a swift NO. So we tried tying it only to nap and bedtime. It’s a start anyway. She isn’t allowed to leave her crib unless she leaves the paci behind. It took about a week to catch on, but we are now 3 ½ weeks into it. She still asks when we are in the car or when she is tired, but we really do leave it at home now. She cried a lot at first, but its getting better. So, the next time you see her, remember to tell her what a big girl she is for not having a paci.
• Maya’s favorite activities these days when the weather allows it are going to the park and swinging, swimming, blowing bubbles, playing in her house in the backyard, playing with any kind of water, coloring with markers (never crayons), painting and putting stickers on things.
• Her favorite toys are anything Little People (she has the town, the castle, the mini castle, the car, and the house). We got her a Polly Pocket car and just loves her “Barbie” in it. It’s not a Barbie, but she refers to it as so. She likes her Tinkerbell Barbie, she is inseparable from her Sponge Bob and Patrick stuffed animals we got from San Fran. Any kind of dollhouse with little people or little toys and she can be won over.
• Oh the imagination. It is so fun to watch Maya role playing with her toys. She will be playing with her Dora and Boots mini barbies and you will hear her say “Dora, want a cheese sandwich” and then she’ll pick up Dora and say to Boots “yes, please”. Every now and again, I will hear her say to her little people toys, “oh you don’t want get in stander” or “oh you don’t want to do cough cough”. I think she says it just loud enough for her daddy and I to hear.

June/July recap

SMA Conference in San Jose, CA:
Click here for the blog post on that trip.

Mid-Pregnancy Ultrasound:
On June 29th we had our 20 week ultrasound. I was "invited" back to the same doctor who did the CVS test. He does a level 2 scan so I was happy to skip my OB's machine! The doctor we went to is all business and he does his own scans so the only pictures we got to take home was the boy part and his abdomen. But it was an exciting time for Charlie to be able to see the baby nonetheless. We actually saw the baby punch me and then we saw my tummy raise. Very neat to see what he was actually doing. Here I thought it was kicks but just a swift punch to my belly. He's gonna be a fiesty one! He gave the baby a thumbs up on health so far so we are happy to hear that. Its funny how Charlie and I are so much more concerned about the health more than getting an ultrasound. At Maya's 20 week it was all about finding out the gender that we didn't realize at the time the important of that scan.

Sleep Study:
Maya had another sleep study on July 1st to get fitted for her BiPap breathing machine. It was a horrible experience to say the least and I don't even want to share the pictures of what she looked like. She was miserable and woke up screaming every 30 minutes. Being pregnant and sleeping with your 2 year in a twin size bed all night isn't my idea of fun either. About a week later I find out that the equipment wasn't hooked up to give all the correct data so they needed us to go back. Uh....no. Not for like a LONG time. Luckily, I learned my lesson from all the previous issues with the doctors and hospitals and called her pulmonologist directly. It turns out he got enough data and had already ordered the BiPap. Don't you just love the lack of communication! I am so glad I didn't put her through that awful study again after just a week.

MDA taping:
On July 16th, reps from the local Muscular Dystrophy Assoc chapter came by with a camera man to interview Charlie, Maya and I. We had been asked if we wanted to be one of the families spotlighted on the Jerry Lewis Telethon this Labor Day. This is their local broadcast. We were asked about her diagnosis, how our lives changed and our daily routines. They didn't ask Maya much but just videotaped her playing with her toys and just pushing herself around. It should air on Labor Day and they asked us to come in for a live spot during the telethon too. Pretty neat! We'll be sure to let everyone know when it will air.

Other stuff going on:
Maya has been spending lots of time with her Nani Raj and Papa John in July. I think she's gone over there 3 weekends in one month! Most of our fun blogging material is during the weekend so I am missing out a little. We have Friday's off again from therapy so been trying to do fun things like go to the park, swimming and eating out for lunch together. I want to enjoy this one on one time with my Maya Bean before "baby brudder" arrives this November! I am busy trying to get weekends planned to visit family in Corsicana and Austin, friends in Dallas and a trip to San Antonio. So many fun updates to come I hope!

Pregnancy story on Baby #2:
Click here for the post.

Pictures from June and July: Click here
And don't forget to see the latest videos: Click here

SMA Conference in San Jose, CA

June 24-28th we attended our second SMA conference. This time we headed to sunny California.

This year we had Gayla, Bill, and Yvonne (Maya’s nanny) come with us to the conference. The first day they had classes for newly diagnosed families. Even though we are a year and half in, they still considered us new. That night, there was a nice reception dinner for just our group. It was sad to see so many new faces from last year. A few of the families we recognized, but amazing how many more there were – from all around the world, too. There were people there from India, Africa, China, etc. This SMA conference is the only one of its kind so everyone wants to come and hear what all the doctors and therapists have to say.

Friday we started our classes and Maya went to the child care. She had so much fun and some of the girls and boys from last year recognized her and they were just called her name from across the way. It was so cute. One of Maya’s favorite buddies was also there – Billy. He is a black lab from where I can’t remember but the family he is with has a boy and a girl with SMA. She was so “cited” as she says to see Billy. Some of the classes were the same as last year, but since we know so much more being a year later, it was very helpful to know that we have the right equipment, all the types of doctors on her team and all the therapists. It was a refresher, but also a much better chance to interact with the other parents. In particular was the Type II class that parents go to. We learned so much about potty training and preschool. I think we took 3 pages of notes and caught up with about 10 different couples. Friday night was a banquet for everyone. Maya made a new friend at the table (her brother has SMA and could not fly from NY). Charlie and I were called up during one of the award presentations for the fundraising we did for Unite for the Cure. It was nice to be recognized like that.

Saturday was just more classes and going out to eat at places like In and Out burger (which by the way became quite the favorite place for B&G). We put Maya in the power stander, Standing Dani, again and this time she just took off. Last year, she was just learning what to do but this year, I think she was going around in it for about an hour. I would tell her to come back and she would just keep roaming the halls. She definitely liked it and cried when we took her out. The only problem about getting this is the cost. It is about $16k! Insurance is highly unlikely to pay for it since they are paying for a manual stander, a manual wheelchair and a powerchair. But standing is so important to these kiddos and there are so many benefits that some kids at her age don’t even opt for powerchairs! They sit at times, but their primary mode of mobility is that Standing Dani! Since the powerchair is about the price of a Honda Civic we opted to get that through insurance and then try to save up enough to get Maya the Standing Dani hopefully next year. Charlie and Maya got in a little pooltime as well…

On Sunday we had a chance to listen to the scientists and pharma companies who are currently doing research and developing drugs and stem/gene therapy treatments for SMA. It seems like there are several great leads out there. The one we helped fund is about to present their final case to the FDA for stem cells. If we are lucky, the clinical trials on Type 1 patients can start right after the FDA approves – they have 30 days to review the information but often put things on hold for safety questions – they are thinking later this fall or January. The first trial will last about 12 months. If Maya were ever to be considered for a trial, it probably wouldn’t be until Phase 3 when they accept a broader range of cases. This could be another 5 years from now but we still keep the hope. Another promising treatment is gene therapy. There is a company that is literally injecting the missing SMN1 gene into SMA mice and monkeys. There are seeing exceptional results. Other companies are working on conventional drugs like Maya is taking now. I think we heard about 7-8 programs going on and they say that only 10% make it to FDA approval. That being said, we are definitely eager to have a treatment sooner for SMA, but just looking in the past 10 years, they have gone from 1-2 possibilities to 7-8. That means that more scientists, universities and pharma companies are paying attention to SMA and with that we have more hope.

Sunday afternoon we headed to San Francisco for the day. We went to Fisherman’s Wharf and saw the sea lions and Golden Gate bridge for some pics. We dropped Bill and Gayla off for their continued vacation for the rest of the week and headed back to pack up and get home on Monday. Fun trip. We can’t until next year when the SMA conference will be at Disney World!

A nice mom at the conference took pictures of SMA families and the kiddos. You can see our new family picture on the top of the blog.

SMA conference pictures and San Fran: Click here

Family pics: Click here

The pregnancy story for Baby #2

So most of you know how we got here - 5 1/2 months pregnant with baby boy - but we wanted to document the whole process. Read if you want or skip it if you already know!

To start off, Charlie and I thought very long and hard about our decision to have another child. Basically, we have always wanted more children than just one. Yes, Maya needs alot of our attention, but we decided that we wanted a bigger family and that SMA won't rule our entire lives. Plus, she is going to be one great big sister and we can't wait to see this side of her! Our decision to go with the in vitro option came after months of medical research, meeting with counselors, genetecists, and doctors. We went over all the options, prayed about what to do and talked it over with our parents. So, we started the entire process fully prepared and supported. We know the decision we made was the best for our family.

A little background on IVF and PGD:
IVF is in-vitro fertilization. Mainly a process of getting pregnant for infertile couples. So that's not our problem, but this is our "vehicle" of getting there. Next is PGD - preimplantation genetic diagnosis. This process gives you the ability to test your embryos for a genetic condition (like SMA) before you even have it transferred to the womb. A fertility clinic takes 1 itty bitty cell from an embyro, it is shipped to a genetics lab who has less than 48 hours to test a single cell for SMA. Multiply that by 10-20 embryos and you can imagine the great task the genetics lab has to overcome in such a short period of time. PGD can only be achieved by the IVF process. So we chose this route because the chances of having another child with SMA is 1 in 4 or 25%, but by using PDG with IVF, you can eliminate that risk by approx 97%. Given that a every normal pregnancy has a 2-3% risk of birth defects, this percentage of risk was manageable for us.

We began the process August 2009 by meeting with a fertility doctor who was highly recommended by a friend. Within a week, we were also consulting with a genetics lab in Michigan. I began the first round of IVF in October 2009. I had give myself the shots and visit the doctor like every other day which was fun because its about 45 miles from our house! In November, our PGD results reported that over 60% of our embryos were affected with SMA. We had a few carriers and a few non-carrier and unaffected. We decided to transfer one, non-carrier, unaffected the day before Thanksgiving. FYI - a carrier is just like Charlie and I. We do not have SMA, but we are carriers of the genetic mutation of it. And so are one of each of our parents and so on up the family tree. It is entirely possible that our siblings and nieces and nephews are also carriers - which is why everyone in the family had to be educated on SMA. Two weeks from the transfer, we received news of a pregnancy, but within a week, tests showed that it was lost.

Three months later we were allowed to try another round of IVF. All the same shots and medications and all those trips to the doctor again. In February 2010, our PGD results showed that 75% of our embryos were affected with SMA. This was quite shocking considering that the statistics show that only 25% of your future children could be affected. Why do I share this information? We took this as a sign to us that we had no business taking a chance on our own and that the IVF/PGD option was the correct choice afterall. We had no non-carrier, unaffected embryos. After long discussion, we went through with transferring 2 carrier embryos. The only chance we were taking with a carrier was that the 3% error risk in the PGD test could be wrong and the baby could have actually have SMA. Naturally, this was quite stressful for both Charlie and I, but we made a decision and didn't look back. In March 2010, we got news that I was pregnant. A few weeks later we were able to confirm that one embryo made it and the other did not - i.e. I was pregnant with one baby and not twins.

We were excited about the pregnancy, but there was still this cloud of uncertainty whether the baby was in fact SMA-free. The only way to test this now and put it to rest was by going through an invasive prenatal test. We were going to wait to get an amnio, but after talking to our counselor, we decided to go with a CVS test at 12 weeks of pregnancy. At this point, most of the family and close friends knew about the pregnancy, but we had not shared at work, nor on the blog. I was almost out of clothes to hide a pregnancy at work! Remember you get bigger quicker the second time around. We were also able to find out the gender at the CVS test since the ultrasound machine is so great. So at 12 weeks we found out we were having a BOY! Charlie was excited to get his son, but again that cloud loomed on the SMA status of the baby. In 2 weeks time, we got word that the CVS test (another genetic test) showed that the baby was SMA-free!!! Finally, we were able to be excited and look forward to having a healthy (non SMA) baby. We were finally able to share the news to everyone this past May when I was 14 weeks pregnant.

I am now 24 weeks and feeling great. I had about 4 months of sickness like I did with Maya and had no appetite most of the day. But now it is back and I am eating ice cream everyday I think! It is no doubt a challenge to be pregnant and care for Maya. Usually by this time, pregnant mothers having little ones that are either crawling around or walking, but we have the challenge of needing to lift Maya several times a day. It has definitely made me more tired, but I have all the family to thank for their support. I don't usually pick Maya up when the fam is around and I don't ever lift any of her equipment. I get Charlie to get Maya out of the bathtub or every now and again we end up at Gigi's house for pooltime and bathtime! Given all the challenges and all the aches and pains of pregnancy, the pregnancy has been going well.

Maya is SOOOOO excited about her baby brother. There isn't one day that goes by and she doesn't ask to hug and kiss my belly. If I am laying down, she puts her head on my belly, rubs it and says how soft the baby is. When she is eating, she often asks to feed her brother and puts a spoon up to my stomach! She has named him "brudder" (for brother). She already loves him so much and it shows everyday. She is going to be such a great big sister and she will learn to help out in her own way! Until then, the weekly question of when her "brudder" is going to come and play with her is always fun to hear.

In the end, after all the shots and costs and emotions, we are happy with our decision and would do it again should we choose to one day have #3. Now its time to paint a new nursery - this time BLUE! We bought his furniture and Gigi already bought all this bedding! And no, we don't have a name yet. Remember that Maya was named 30 minutes after she was born? This is likely to be the same if not longer!