Maddie's Journey in my belly

In November of 2008 I had my first ultrasound that revealed we were having a little girl, at this point because I had been delayed in getting prenatal care (I didnt find out I was pregnant until around the 9-10th week) I also had the AFP and triple screen blood test done (18 weeks). We left that day of our first ultrasound so excited and couldnt wait to tell everyone we were having a girl!! I got a call from my OB about 3 days after the ultrasound, I didnt worry much when she said she was referring me to a high risk Dr for additional measurements of the baby since she was looking a little small for her gestation. Again, since I never was really sure when I conceived I figured maybe they had my due date off a week or two and thats why the baby was small. So we proceed to visit the high risk Dr. the following week. They finally call us back (both Chad and my mom came to this appointment), a genetic specialist sits us down and begins to ask me questions about family history of any birth defects, mental handicaps, or genetic conditions. I say no, no and no. Mind you, I have no idea about my blood test results at this point. She then explains to us that at my age of conception (24) my risk of having a child with a genetic condition like trisomy 21, 18, or 13 would normally be about 1 in 1400. The number increases with age. Well, at this point I realize what is coming out of her mouth next and I am crying, "unfortunately your blood work came back with an elevated protein which brings your risk to about 1 in 30" she says. She further explains that the Dr. is going to perform a level 3 ultrasound measuring every inch of the baby and examining her for any genetic abnormality, heart conditions ect. Depending on the findings this will increase or decrease my risks. OR she explains my "other" option. Have an amniocentesis which will tell us 100% either way. "You can terminate at this point but you only have a short window since you are already 20 weeks along" What?!!? No freaking way!! Was I really hearing this?? Chad and I almost simultaneously both gasped and said but we already know we are having a girl....we are already in love with her...the decision was made for us to only have the ultrasound and decline the amnio. We proceed to the exam room and the Dr does the ultrasound, Maddie gave us a thumbs up in the picture =) We took that as a sign she was just fine and Dr. F told us he saw nothing of concern with our baby and in his opinion she probably did not have a genetic issue. I was told my odds were now 1 in 300 based on this report. . I then rationalize in my mind...1 in 300, 1 in 300, no brainer! Everything is going to be fine! Our baby will definitely not have any genetic condition! The Dr. even said to us on his way out "see ya in 2 years when they scare you with the next one"
Not another thought was given about any of this until the day after Maddie was born.

Drinking from a big girl straw cup!

Yesterday we had what we like to call a "good news" appointment with Dr. Ruiz and Dr. Pattisapu. We had been referred to Dr. P. first back in January of this year due to Madison's abnormally large sized head and concerns that there might be extra fluid surrounding her brain. We had a sedated MRI done in Feb and were relieved to find out that there was no extra fluid and thought we were home free! At her one year visit in April with Dr. Pollack (geneticist that follows her) she was again concerned about her head size and shape, so she again refered us to Dr. R who is a crainiofacial surgeon. He was not happy with the quality of the MRI scan so we again, had to have a sedated full CT. This time however, we were not lucky enough to get an early A.M. appointment and my poor poor Maddie had to go almost 14 long hours with not a morsel of food, or a drop of water. Well, turns out the CT is much quicker than the MRI and they wanted to try and get a shot without sedating her. Sedation is a big deal, she has to be admitted, and anesthesia is placed as if she were having surgery, and the recovery peri0d is a couple hours. When she was sedated for the MRI she also had to have some breathing assistance...so needless to say I was a little relieved they were not wanted to sedate this time for the CT, but I thought there was NO WAY maddie was going to lay there still enough to get a good shot since she was literally starving! Again my daughter proved me wrong and lay there still as can be..no need to sedate this time. Dr. Ruiz describes himself as the "carpenter" as Dr. P is the pluming, electrical ect... So, basically since her brain looks good and there is no seizure activity, the electrical, pluming ect is not causing her abnormal head shape. Dr. R had suspected a condition called craniosynostosis which causes the bones in the skull to fuse together too quickly therefore not leaving enough room for the brian to grow. At this point Dr. R doesnt believe she "fully" has this condition but she is of course in the 5% that he sees have a major marker for it. There are 2 areas of her skull that seemed to have fused prematurely however he is not suggesting the corrective surgery yet...this is a major major surgery that has a very very long recovery period, and it would really delay Maddie's motor and fine motor development at this age. But at the same time, if she is going to need this surgery it would be best to have it before age 2, since between birth and age two is the time period a babies brain grows the most. For now though, Dr. R is saying 'NO SURGERY' yaaaay!!

Now, on to additional exciting news! Maddie now has an Occupational therapist that will be coming to the house to work with her on Tuesday mornings. She came for the first time today and evaluated her fine motor skills, watched her play with blocks and manipulate toys. The therapists evaluation shows that Maddie is at the level of an 8-10 month old on a fine motor scale. I was a little upset seeing that we had the same evaluation done in early May showing the same result. I had hoped she had made some progress but she will feed herself and crawl and stand and walk when she feels like it and she is ready. We work on all of these things hours a day on end and when it comes down to it, Maddie is just not ready yet and she WILL do all of them when she darn well feels like it!! One thing she is mastering is the straw cup!! This is very very exciting because oral motor development occurs much quicker for kiddos with Down Syndrome who are able to drink from a straw cup early on. Her lips and tongue used to be very weak and we have been working on straw drinking since she no longer needed the simply thick in her liquids to drink (around 10 months). She finally today, graduated from her special "therapy" cip kup, to a regular old straw sippy cup, that I actually can buy at the store and not have to order online for $17 hoooray. Ms. Amy her Speech therapist is great and she has been working with Maddie since she was 4 weeks old. She encouraged me to keep trying to breastfeed Maddie even after six solid months of me pumping ALL of the milk she consumed. Happily I was finally able to breastfeed her a solid 3 times per day when she was 6 and a half months old. She did not have the strength in her lips to adequately suck and seal without losing the liquid gold or suck hard enough to keep my supply up until after 5 months of strength exercises for her lips, cheeks and tongue, that Amy taught me to do. Maddie is still nursing, but only in the mornings because she likes to bite me with her shark teeth any other time of day.

Well, I am off to feed the angel and work on some new tricks the OT taught me today.