Dear Clara, (a letter to my girl describing her development and testing over the last three months)

My friend Gillian, upon learning that Clara has been going through some intensive testing due to developmental delays, directed me to her friends blog The Beauchamp Bunch. The mom of this blog wrote a beautiful letter to her little girl, Audrey, who has also undergone lots of testing and blood work because of similar concerns. I thought it was such a sweet idea, that I decided to do the same. I think this will be a great keepsake for Clara someday, when trying to understand all she went through during this time of life, and a great way for us to update all of you.

My letter to Clara is below. . .

Dear sweet Clara,

I can hardly put into words how much joy you bring to our lives. You light up the world around you and each day is such a blessing. Your smile is contagious and completely melts our hearts. You are developing your own little personality which is so fun to watch.

You just turned nine months old. I cannot believe it! Where does the time go? As you know about three months ago, at your six month well check, Dr. O. let us know that she had some concerns with your delayed development, both physically and socially. At that time you were not really making much eye contact, smiling, babbling or laughing, or tracking things with your eyes. You did not seem too interested in engaging with me or daddy, or the world around you. You liked to hang your head down instead of looking up. At that time you were also not sitting up on your own. Dr. O talked with us about some steps we could take to check things out, just to be proactive in helping you meet your milestones and to see if there was any reason why you might be lagging a bit behind your baby friends. Dr. O suggested we get you in Occupational Therapy and that we meet with a baby brain Dr, called a neurologist, Dr. R.

We met with Dr. R for the first time in December 2012. He confirmed that you were showing signs of developmental delays and he also said that your head is a lot smaller than babies your age. He said you have Microcephaly. Because of these two things, he wanted to run lots of tests and also get some of your blood. Mommy and daddy were a little overwhelmed leaving that appointment. We had so many questions and shed some tears, but we knew that God was holding our little family in His hands. We were not fearful, just overwhelmed and a little nervous with all this new information.

You had a hearing test done not too long after that appointment and you did not pass in either ear. This was a repeat of the same test they did in the hospital when you were a few days old. Because of this, you had a more extensive test done, called an ABR (Auditory Brainstem Response), where you had to be put to sleep so the ear Dr. could monitor your brain activity. She put little stickers on your head (called electrodes) that measured your brains response to a little clicking sound. Clara, you passed with flying colors! You showed no signs of hearing loss at all! Mommy and daddy joked that you were just trying to keep us on our toes. :) Silly girl.

You had your eyes checked and other than already being nearsighted, the Dr. saw no concerns with your vision. We were so thankful!

The neurologist did a little test on you called the Batelle Developmental Inventory, when you were about eight months, and the test confirmed his suspicions that your development was lagging several months behind. Based on your results, Dr. R guessed that you would probably start to walk around age two. This made mommy cry but then I realized "Who cares when you start to walk? You have your whole life to walk, so it's really no big deal."

You had to get lots of blood drawn just so we could investigate a little further. These were not fun days for any of us, but overall you were SO strong! Two different times you hardly even cried! Your regular lab work came back fine. Dr. R also ran some genetic tests (they are big words - a Chromosomal Microarray Analysis, Rett Syndrome and Fragile X Syndrome) to see if these might be the reasons you were a little behind and your head a little small. A nurse took your blood and then it was sent to a lab where it was watched carefully and put under a microscope. They found that you are missing a portion of your 4th Chromosome (the part you are missing is 4p15.32). This is called a chromosome abnormality, or some people call it a genetic deletion since you are missing some genetic material. Dr. R is not quite sure what this means yet, or if it even matters! Genetic testing is so new that the research base is still somewhat limited. Last week the Fragile X test came back negative! We were so thankful!! We are still waiting on the results of the Retts test and one additional test (that has to do with metabolic function since Dr. R said 4p15.32 is involved with how your little body metabolizes different things). We are praying that you do not have Retts, but if you do you better believe this will not change one thing about our love for you. You are perfect, no matter what the results show.

A few weeks ago you had a MRI done on your brain. You had to be put to sleep for this too, just like the ABR test, except this time they had to give you an IV in your foot. It took a while to get the needle in your foot but once they got it in and gave you the sleep medicine you did great. The results show that all the major parts of your brain are just as they should be! Dr. R did mention that certain areas of your brain are not as myelinated as most babies your age but it is still within a normal range of abnormal so he is not too concerned right now. He would like to have another MRI done in a few years to make sure it has resolved. Praise God that all the parts of your brain are there! Dr. R mentioned that while your brain is small compared to other babies, it is filling up your head space appropriately so that is a huge blessing!

You started seeing an Occupational therapist (who works in Dr. R's office) once a week (December 2012) and you are making GREAT PROGRESS. Clara, after just one week of OT you started sitting up on your own. The OT, Ms. Brittany, is working on getting your back and neck muscles super strong. She says this will help you meet your milestones. She is also helping you become more aware of your hands. She gives us lots and lots of homework exercises to do each day, and you seem to really enjoy our little play time. Ms. Brittany is blown away by your progress week after week. You bring her so much joy and she loves playing with you. The OT session is one of our favorite times of the week. It is SO fun to watch you blossom. You amaze us. Oh, and last week, you went from laying on your back/tummy to sitting up on your own in your bed!! You have only done it once but we are sure you will do it again soon.

You have another friend who works for ECI (Early Childhood Intervention), Ms. Misty, who comes once a week to play with you at our house. She started coming in January 2013 and is called a Specialized Skills Trainer. The three of us sit on the floor and play together. She also gives us exercises to work on between visits. She is so happy with your progress so far and thinks you are beyond cute!! ECI will work with us until we are ready to stop services, or until you hit three years old. Once you are one year they will send a Physical Therapist and Speech Therapist to our house to work with you.

At this point, we have pretty much finished most of the major testing. Mommy and daddy are going to talk with a team of people at Texas Children's Hospital, called geneticists, who will give us more information about the part of chromosome that you are missing. They might want to take some of mommy and daddy's blood to see if we are also missing 4p15.32. We go in May, just after you turn one year old!!

Clara, we want you to know that our love for you is unconditional. It doesn't matter what any of these tests show or what the Drs. say "might" happen in the future. You were created perfectly, in God's image, and no diagnosis will change that. You are a JOY to us. Everyday I hold you and ask myself "How did I get this lucky?" Yes, we have a lot going on and our days can sometimes be really busy and stressful, but I would not change a thing about our days together. I am so thankful I am able to be at home with you right now. I love watching you grow, blossom, and I am eager to see how God uses you (though small) to do big things. We love you so much. I can't say that enough.

Yesterday at your nine month well check Dr O. stated "It is obvious that Clara has been blessed with the perfect mom and dad to meet all her needs." I replied "No. Actually. This mom and dad have been blessed with the perfect Clara."

Love,
Mommy (and daddy)