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!