Swingset and Shriner's Visit

Eli's birthday present is finally done! I am enclosing some step by step pics of the building of his new swing set. Thank you so much to P-pa and Daddy for putting it together. It was about a 7 day long project. The entire thing came in 4 long skinny boxes in about a million pieces. Thank you to P-pa, Grandma and Grandpa Martin, and Grandma Wiggy (Vicki) for chipping in on it! Eli absolutely loves it and I'm so glad he has something to do outside now.

The other news is that we went back to Shriners this tuesday for a follow up with the orthopedic hand specialist. She examined Em and said she is completely fine and is going to do very well. We were concerned about her arms and shoulders but the doctor said although the might be slightly shorter/narrower it was nothing that would hold her back in any way. She also said she didn't even think she needed the splints anymore. She doesn't need to see her back until she's 1 to evaluate the surgical options. She told us that if we never did anything with her hands that she would still be 100% functional and will learn to adapt and do everything. Depending on how she's using them at 1 we will decide then whether or not surgery is the best option. This was all wonderful news to say the least. We feel like it was an answered prayer. We won't go back until mid October. We have a follow up with the cardiologist next month and so please continue to pray that the holes in her heart are closing on their own and will not need any intervention. I recently connected with another mom whose 3 year old son has HOS. She said initially he had 6 VSDs and by the time they went in to close them only 1 had to actually be repaired, what a miracle! We are hoping for a similar outcome with Em.

On another note, I wrapped up the gymnastics season last weekend in Colorado Springs. The level 8 team did very well at Regionals. Eli and Emmarie's Grandma Shafer came to visit to help Daddy while I was out of town. They all had a lot of fun! I was exhausted after 5 days of traveling, first to the meet and then to Shriner's, but I'm feeling a lot better today. I'm glad the season is over and we can take it easy for awhile!

Elijah James Martin

Eli turned 3 years old last friday! Wow how time flies! Jason and I cannot believe it's been 3 years since that little man made his appearance in the world. He certainly changed our lives forever. I love him so much it hurts sometimes! He wasn't the happiest baby on the block for the first 3 months (colic, crazy mother, etc) but after that he was easy, and turned into an awesome sleeper! He still is for the most part. Although he likes to stay up late and sleep late, which isn't so great sometimes, especially now that Emmarie is just the opposite. I can't keep her up past 8 and she's up at 5. On one hand Eli is extremely stubborn and strong willed, but at the same time he is super sweet and loving. He melts my heart on a daily basis. Last night after he was in bed he came creeping into the living room and said "Momma I needed to check on you, I was worried about you." Granted he was just trying to find an excuse to get out of bed, but it still made me smile and give him a thousand kisses. He is very verbal for three and uses hilarious words all the time. One of his new favorites is "unusual". "Momma there's something unusual in the bathtub." He just cracks me up continually.

Things he loves:

Talking incessantly

Playing make believe (he is constantly taking his cars, trains, men, robots, etc, into fantasy rescue scenarios)

Running, Jumping, Wrestling, sword fighting, karate fighting, and any other kind of fighting

Getting his way

Any sugary food or drink

Organizing, collecting, making lists, "working"

TOOLS! Only the real kind of course, not the thousands of plastic ones he has in his playroom

"reading" i.e making up stories

singing, drumming, playing his keyboard, harmonica, etc.

GUNKY! This is his blanket which he named gunky before he was 1.

Watching movies and memorizing and repeating all the lines (he'll say random things and then later we'll realize he was repeating a movie line)

Buzz and Woody (his best pals)

Playing with rocks and dirt (the reason we had to quit t-ball:)

Doing anything outside

Playing monsters, aliens, bad guys, etc.

Screaming at the top of his lungs

"helping" daddy or P-pa work on anything

Swimming

Chick-fil-a

Things he doesn't love:

Being quiet

The word "no"

Non-sugary food or drinks

Sharing his toys

Taking a nap

Bugs (a bug landed on him in the car the other day and he freaked out so much that I had to pull over)

Anyone giving Emmarie too much attention

Sitting on the potty (Standing is just fine, but sitting is scary?)

Having anything taken away (this always equals a meltdown)

Picking up his toys

Eli goes to pre-school one day a week and also does swim lessons. He loves both! I'm cherishing every moment since I know one day soon he will no longer let me hold him and cuddle. I'm already sad thinking about that. I'm including some pictures, one at birth, 6 months, 1 year, 2 years, and 3 years old. He's absolutely gorgeous if you ask me, not that I'm biased:) Love that little man!

Another day another doctor.........

Hi All! Yesterday Emmarie and I went to see Dr. Kayser here in Tulsa at St. Francis. I wanted to have a local geneticist contact so that he could explain test results and answer questions. Dr. Kayser agreed with Dr. Chen's clinical diagnosis of Holt-Oram Syndrome (referred to from now on as HOS). He sent us to the lab yesterday to get blood drawn, but by the time we got there it was almost 4:30 and they were not able to proceed. Her blood needed to be shipped out immediately and the last shipment was going out at 4:30. So back we went today. It was not fun at all! First we had to wait an hour, and then I had to watch them stick a big needle into my little baby:( I felt so bad. They could barely get any out and I thought they were going to have to try again, but luckily they said it was enough. So, now we wait.......8-10 weeks for results. If they do find a gene mutation then Jason and I will also get tested. We were very worried about the cost of all this, however we did get a bit of good news yesterday. Em's test is really expensive, but luckily any additional family members are much much cheaper. That was a relief! Dr. Kayser explained that once they know exactly what they're looking for it's a lot easier, thus the lower cost of other related individuals. This test doesn't change anything as far as the course of treatment for Em. We're doing it so that we know if there is additional risk for Jason and I to have more children, or down the road if/when she wants children of her own. It also has implications for one of our families if Jason or I have the gene. It seems unlikely at this point since this is a dominant disorder, basically meaning if you have the gene you have it. However, there is such a huge range of presentations of the disorder someone could have a slightly malformed carpal bone (not noticeable to anyone) and they could technically have HOS. So, we still want to make sure that neither Jason or I have the gene mutation. Dr. Kayser also said that 85% of HOS cases are new mutations, meaning not inherited. That is a higher percentage than I had initially read. We also discussed pre-implantation genetic testing using IVF as an option for Emmarie if and when she wants to have kids of her own. That made me feel a lot better. I know that's so far down the road and I shouldn't be thinking about that now, but it is the one thing that was most devastating to me as a mom; the fact that she may not be able to have children of her own for fear of passing it on. Overall I'm feeling very positive and blessed these days. She is so smart and beautiful and such a happy baby! She hardly ever cries and smiles constantly. It broke my heart today that she was lying on the table about to get stuck with a needle just smiling and laughing at the nurse who was about to hurt her. I wished so much that I could tell her it was going to hurt. Poor baby! We head back down to Shreveport on April 20th for a visit with the orthopedic doctor. I'm sure they will want to find out more about what's going on with her upper arms/shoulders now that we have a diagnosis and know that other areas might be affected. I'm hoping that they won't want to take more xrays, but have a feeling they will. I will be going to Colorado Springs for level 8 regionals next weekend. I get back late Sunday and we'll leave Monday evening after Jason gets home from work to drive down to his mom's. We'll stay overnight there and leave super early to get to Shreveport by 10:45. We have to drive all the way home after the appointment this time because Jason has a meeting the next day. It will be a long trip for Em in the car, especially considering she's not a huge fan of the carseat right now! I'm thinking after this visit we won't be going back for several months so that's a small comfort. Our next appointment will be with the cardiologist in May. I'm anxious to tell her about the diagnosis to see if there are other concerns with her heart or things that could develop later. On a more positive note, my PAT (Parents as Teachers) advisor found a website called Madisons Foundation. It was developed by a mom whose daughter was diagnosed with a rare pediatric disease. Once you join it gives you email addresses for other parents who have children with the same disease/disorder etc. So, I sent out an email and already got one response. It's great hearing from another mom. She was very positive and said her 3 year old had 6 VSDs that were all repaired and had bipollization surgery on both of his hands (where they turn the first finger into a thumb). She said he is developing completely normally and requires no other interventions. She also has HOS but said no one would ever know.....makes me wonder about me! I thought I would end telling you all more about Emmarie, beyond the the fact that she may have a genetic disorder.

Things she loves:

Smiling and laughing

Watching her brother do anything

Jumping in her jumparoo (sometimes and not for very long)

Flying with daddy (loves to have that zero gravity feeling)

Getting kisses

Giving kisses (or eating your nose, same difference)

Grabbing absolutely anything she can get her hands on

Blowing bubbles with her spit (she's very good at this and it's LOUD)

Sleeping on Daddy

Things she doesn't love:

Getting stuck by needles

Rice cereal (I tried, she was not a fan, wants to stick to mommy's milk I guess)

Rolling over to her stomach (she rolls over and then gets mad that she's not on her back)

Mommy yelling or talking loudly (this happens often with a 3 yr old in the house!)

Sleeping past 5AM (she's doing great though, sleeping from 9-5, what a relief!)

Watching mommy walk past without picking her up (if she's in her activity center I try to sneak by to do chores around the house, she's fine as long as she doesn't see me:)

**I'm including some Easter pics. We had a fun family day, church, Mema's for lunch and then back home. Saturday we got to go to an Easter Egg hunt at a friends house. Eli had a blast! I've decided my next entry will be an All About Eli event. So stay tuned for that! His birthday is friday and we're taking him to Chuck E. Cheese. He's been once with Jason, but I haven't been in years. I actually can't remember when I last went. Probably for one of the younger cousins birthdays at some point. Should be fun, he will absolutely love it I'm sure.

Happy birthday to my good friend Audra today! Miss you and love you girl! Can't wait to hang out next weekend. Well it's 10:00, bedtime!

Shriner's Story

Here is the beautiful girl with her beautiful Aunt Alie. You can see she is sporting her new splints. Grandma Shafer made her the pink covers to go over them so that she wouldn't scratch herself. I also had to include a pic from Eli's recent fireman 3rd birthday party! It was so fun! The kids all enjoyed climbing on the fire truck and looking around the fire station. Eli's P-pa was our tour guide and host. Thanks Tulsa Fire Department Station 9!

I wanted to share a story about our last visit to Shriner's hospital in Shreveport. I meant to include it in the first post, but it was already so long just getting the basic information out there. As I expressed before we were stunned by the sudden news that Emmarie most likely had a genetic condition. It was my worst fear all along. After our brief visit with Dr. Chen we had to wait awhile before the OT/PT department was ready for her to make the new hand splints. I had not been able to stop crying since we got the news, and rather than sit in the waiting room and make everyone uncomfortable, I decided to take Em on a walk around the building. As we were walking we passed a young boy, maybe around 10 or so, walking with a walker. He looked at me and asked "what's wrong with your baby?" Kids have a way of expressing such innocent honesty. I mean of course there must be something wrong with my baby, why else would we be there? I thought briefly about what to say and decided to go with "she's just perfect." He seemed a bit confused, as he could tell I had been crying, so he replied with "do you have allergies or something?" That immediately made me laugh! Here was this precious boy, obviously struggling with something most 10 year olds don't have to face, and he was happy and worried about my possible allergy problems. I wanted to reach out and hug him, but I didn't. Kids are so resilient and don't waste time feeling sorry for themselves. He really inspired me to stop feeling sorry for myself and get tough. I stopped the doomsday dialogue in my head right then and there. There are so many kids out there dealing with things far worse than Emmarie will ever face, and most of them are smiling and happy anyway. What a lesson for all of us!

On another note, Emmarie's physical therapist came today and looked her over more closely, since we now know there are other possible issues besides just her hand deformities. I have always known that she had very narrow shoulders and have been concerned about that. She discovered that Emmarie is very weak in her shoulders, especially on the left side. We now have new exercises to do with her to try and strengthen those muscles. We have an appointment with Dr. Keyser, a geneticist here in town, for next tuesday. We are hoping to get some more answers then and to get the genetic testing underway. I will update again after the appointment. Happy Easter to everyone! I know this year I will be celebrating the miracle of the Risen Christ even more than before. God Bless!

Emmarie Update

Hi all! Well most of you are probably chuckling to yourself right about now as you know I have said that I do not have time in my life to blog, but here I am again eating my words. I said the same thing about Facebook, and yet I find myself frequently checking my iphone for status updates throughout the day. So, I cannot guarantee frequent blogging, but in light of everything that is going on with Em, I felt like this was probably the easiest way to update everyone who wants to know without having to have lots of lengthy phone conversations. So, here goes......

Emmarie Jane Martin

As some of you know my experience having Eli (our first child, who will turn 3 on April 9th) was not the best. Labor was long and ended with a perfect baby and a mom whose body took months to recover. The second time around was completely different. Emmarie came after a short labor (thanks to my buddy the birthing ball) and although there was 30 minutes of the most intense pain I have ever experienced, my body was in much better shape afterwards than it was with Eli. The first indication that something wasn't right came to me through my Labor and Delivery nurse. As I was lying on the bed getting stitched up, the nurse came over to me and said the words that no mother wants to hear......."It looks like she might have birth defects in her hands." The world seemed to slow to a screeching halt and a hazy numb feeling came over me. X rays were done and declared "normal" and everyone seemed to suggest at the time that perhaps the hands were just positioned weirdly in the womb, causing them to turn in radially. However, from the first moment that I studied her precious little hands I knew something was wrong that was not simply "positional." I immediately feared that she had some sort of genetic condition and I studied her closely looking for other signs. At first we didn't see any. She appeared perfect in every other way. So, we visited an orthopedic specialist when Em was about a week old, and he referred us to the Shriner's hospital in Shreveport, Louisiana. Our first appointment was set for mid January and we went about the business of caring for our precious little angel. Just as I was staring to breathe a sigh of relief around 8 weeks ( she was smiling, holding her head up, and doing all the other things that she should be), we went for her check-up and our pediatrician heard a heart murmur. He assured me that this was very common, but sent us on the cardiologist for further testing. As I sat in his office waiting for him to bring the referral for the cardiologist, I was struck again with the hazy feeling. I think that it's probably my body's way of dealing with intense fear of the unknown. We went in for an echo cardiogram a few days later and immediately I could tell something was wrong. The tech left the room and came back with another more experienced person and they did a lot of whispering to each other etc as we tried to hold our 2 month old still. When the results came back a few days later we learned that Emmarie had an ASD and a VSD. Basically she has 2 holes in heart where they should not be. The cardiologist we met with later was wonderful and right now we are just waiting to see what happens as she grows. Sometimes these openings close themselves as the child grows. We go back in May for a new echo to see if anything has changed. If they do elect to close the openings it will not be until she is over 2 unless there are other unforeseen problems between now and then. So, after the cardiologist we headed to Shriner's for our first appointment a few days later. We met with an orthopedic specialist there. Her conclusion was that no conclusion could be reached until Emmarie is older and her bones have calcified. Then she will be able to see what exactly is going on and what course of action should be taken. She said she would eventually do surgery on her thumbs, but not until after the age of 2. She also directed us to have splints made for Em's wrists to help straighten them out. So, we left Shreveport with splints and more questions than answers. The orthopedic doctor suggested we meet with the geneticist and so an appointment was made for March. From late January to mid March we did the day to day parenting and saw progress in her wrists as they appeared to straighten more and more. Again I breathed a sigh of relief as she hit all her developmental milestones, cooing, rolling over, etc. She is such a happy baby, smiling and laughing constantly. As the appointment with the geneticist grew near I had mixed feelings. I wanted an answer, but I didn't at the same time. After arriving at Shriner's this past Wednesday we waited for over 3 hours to see Dr. Chen. When we finally saw him he asked us a few questions, looked at Emmarie's xrays and her hands and then very calmly flipped to a section in the book that he wrote and announced that his clinical diagnosis was that she had Holt-Oram Syndrome. Again, the hazy feeling. Although we wanted an answer, it still hit me like a ton of bricks. Hearing the word SYNDROME was overwhelming and scary. Although I've only had a few days to research what this means, basically it is a heart-hand genetic disorder, occurring in 1 in 100,000 births. Her actual diagnosis is pending a genetic test. Since, neither Jason or I are aware of any family history of this disorder, it is most likely a "fresh mutation" meaning we did not pass it down to her. There is a vast spectrum of presentations of this disorder from the mild to severe. We are very blessed that Emmarie appears to have a very mild presentation at this time. We are still reeling from the diagnosis and it's implications but we are trying to stay positive and be thankful that she has nothing that is life threatening at this point. Her heart and hand problems that we were aware of are all completely fixable with surgery and therapy. We are praying that no new issues arrive, but will deal with anything as it comes. I think it's natural for a parent to think "why me, why my child?" when something like this happens, and I definitely have had this thought. However, I know the more appropriate response is "why not me?" No child "deserves" to be born anything less than completely healthy and perfect, so I choose to believe that God made Jason and I Emmarie's parents for a reason. He knew that we would love her and take care of her no matter what. We are capable of dealing with these issues and giving her the best life possible. It's hard for me not to think of the future and the possibility that my baby will face complications or limitations that others will not, but I'm trying to take one day at a time and do the best I can for her moment to moment. Next week I will be trying to work out the details of the genetic testing as it is not an easy process. I'm not sure how long it will take to get an answer, but I will update here when we know anything. Thanks for all your thoughts and prayers.