This precious one is now 7 months old! I can't believe how fast time has flown! She is now 8 pounds, 5 ounces, and 21 inches long- so tiny! Mags is really starting to get such a sweet personality and loves to give the cutest heart-melting grins. She's starting to do better being held by people other than her mommy & daddy...but not for very long periods of time. We're working on it! She is a champ at rolling over and is so proud to hold her head high when she is on her tummy. I think it will be another couple of months before she will sit by herself, as she is just a little "top heavy" with that cute noggin. Maggie loves to watch other kids, especially her big bro. Cooper has become very interested in and protective of his sissy lately. At McDonalds last week he was playing with two little boys and said "I'm Cooper, that's my Maggie!" He is ready for her to be able to really play with him...and we have to monitor his big hugs and high fives!
Here's a little OI background and update on our girl:
During my 20 week ultrasound, the doctor noticed that Maggie's left femur was short and bowed, and that her left tibia/fibula was severely bowed. We were hoping that there was just some sort of issue when her leg leg was formed, and that we would not find any other problems. As the pregnancy continued, it looked as though all of her long bones were short and that her feet and hands were clubbed. The perinatologist broke the news to us a day before Thanksgiving that Maggie had some type of skeletal dysplasia...most likely achondroplaisa. We were shocked and so devastated. While we definitely realized that there are many, many other genetic disorders, and that so many of them are way more devastating and severe than a skeletal disorder, we were still so upset. We worried about the numerous surgeries and health problems Maggie may have due to dwarfism, and we worried about the emotional suffering she may have to endure by being different...not to mention that in no way did I feel qualified to be the mom of a special needs baby. The day she was born we were surrounded by so many friends and family and covered in prayer by not only our closest friends, but also by complete strangers, as I later learned. After an easy labor and delivery, Maggie came out screaming like a mad woman at 1pm on December 29th. She looked so much better than what we were expecting! Upon first looking, her left leg was definitely short and bowed, but her other bones looked fine. She weighed 4.4 and was 17 inches long. I cannot describe the feeling of calm and relief that I felt holding her for the first time...something I had not felt in 20 weeks. She was beautiful! It did not matter what kind of disorder she did or didn't have, she was our precious angel and we would do whatever we had to do to make her life wonderful. Later that day the Neonatologist, Orthopedist, & Genetics Specialist came to my room and told us that they were pretty certain that Maggie had a genetic disorder called Osteogenesis Imperfecta...aka Brittle Bone Disease. The disease occurs when there is a mutation on of of the genes that controls collagen formation, resulting in inadequate collagen in the bones, either by effecting the quality or quantity. This makes the bones easily broken, and makes the person shorter than average (most are considered little people). There are four main types of OI that vary by the type of mutation and physical symptoms. The doctors thought that Maggie had type IV (the types are not in order of severity), which is moderate in severity, but had to confirm by genetic testing. After a 5 day NIUC stay, Maggie came home to two very nervous parents. When Maggie was about two months old, we received the results of her blood test. It confirmed that she did have OI, but her mutation was consistent with type II OI...the most severe, and often fatal type! Since Maggie had not had any new breaks and did not appear to be as severe as a type II, the doctors were puzzled. We had noticed a few things on Maggie's body that led the Geneticist to believe that she had something called Mosaicism...that could be lessening the effects of the type II mutation. Mosaicism is when there are two or more cell populations in the genetic makeup of a person and the proportion of normal to abnormal cells will determine the severity of the disorder. How crazy is that!! What a blessing!! My heart changed from crying out in sadness "why my baby?" during the pregnancy, to crying out in joy "why my baby?" after this news. The Lord really humbled me during this time and taught us so much about the amazing love of family and friends (and co-workers), the power of prayer, and trusting in His perfect will.
Since this diagnosis we have just been doing lots of research, being careful, and just enjoying our sweet girl. We have met so many amazing parents of OI kids online that have given us lots of advice and encouragement. Since OI isn't super common, most of Maggie's doctors have not had a lot of experience with it. We have an Endocrinologist & Ortho here in Birmingham, but have decided to take her to an OI clinic in Omaha this fall to be seen by a group of experts in OI. We will go once a year for a checkup and probably have her leg surgery done there. She is also about to start Pamidronate infusions, which is a biphosphate drug that will help strengthen her bones & reduce any bone pain. Since Maggie's mosaicism makes her type of OI different, we really don't know what to expect. She has all of the physical symptoms (blue scalera, larger/heart shaped head, small body, excessive sweating, flexible joints), but has not had any new fractures since the pregnancy! Some kids don't start breaking bones until they are toddlers, so we will just have to see what the future holds. All we know is that we could not be more thankful and in love with our girl. We would not have her any other way!!
Mags on her Birthday
