A Little Blessing: Another trip to Cincinnati: Division of Human Genetics

Wednesday, March 2, 2011

Another trip to Cincinnati: Division of Human Genetics

On January 28th, 2011 we traveled back to Cincinnati, OH to see Dr. Hopkin, a genetics specialist at Cincinnati Children's Hospital. Since our last visit there, we had done a number of genetic blood tests on Brandon and on this day we got to review the findings with the doctor. As it turns out all of Brandon's blood tests came back "normal". In my mind this is great news, however genetic studies are not 100% accurate. What I found out though is, even though genetic studies may not be diagnostic, a person can still receive a "clinical" diagnosis if they exhibit many of the same characteristics. After a detailed discussion with the doctor it was decided that Brandon meets criteria for a clinical diagnosis of Aarskog Syndrome. They will further investigate and study other conditions that could overlap with this particular syndrome, but at this time he will have the Aarskog diagnosis unless an alternate diagnosis is found to be more appropriate. What does this mean? The important part I took away from this is that Brandon is "at risk" of learning difficulties and attention problems as he gets older. In light of this information and in addition to Brandon's speech issues, it is more important than ever to make sure he gets linked well in the school system and receives appropriate services. Help Me Grow has been fantastic in preparing us for this and Brandon was evaluated for special needs preschool and has qualified. He is currently on an IEP and will start preschool on March 7th where he will receive speech and occupational therapy to help him progress developmentally. Because there are different types of Aarskog, we are unsure exactly what this will mean as far as Brandon passing any genetic conditions on to his children. I will say this...Brandon has been an amazing boy and if his kids are anything like him we will all be lucky :)

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Oral-facial clefts are birth defects in which the tissues of the mouth or lip do not form properly during fetal development. In the United States, clefts occur in 1 in 700 to 1,000 births, making it one of the most common major birth defects. Clefts occur more often in kids of Asian, Latino, or Native American descent.
The good news is that both cleft lip and cleft palate are treatable. Most kids born with these can have reconstructive surgery within the first 12-18 months of life to correct the defect and significantly improve facial appearance. http://kidshealth.org/

I remember going in for my 20 week ultrasound. I was so excited to find out if I was having a boy or a girl. My midwives told me that so far all of my labs and vital signs were picture perfect for a pregnancy. Then it happened...I saw the ultrasound tech's face turn serious. She kept taking more and more pictures of my son's face, but wasn't saying anything. With my medical background I knew the possibilities; I finally came out and asked..."What's wrong?","Is there a cleft?". The ultrasound techs aren't allowed to really say anything until it is confirmed by a doctor, but she did say she wasn't sure. Tears began to roll down my face, but I was trying to stay strong. My daughter was with me and I didn't want her to be scared. More and more pictures were taken. I was then asked to wait 4 weeks before I came back to get another ultrasound. This would allow my baby more time to grow and then confirm what they thought...my baby was going to have a cleft lip and palate. I was devastated, but there was nothing I could do. I searched online for any information and pictures I could find to satisfy my desire to learn more. I had no family history of this birth defect. I was referred to a high risk doctor for further evaluation...from there my world began to fall apart. The more and more they checked my baby inside my womb, other concerns began to develop. As it turned out, my little boy was not measuring "normally" and the doctor was worried about a form of skeletal dysplasia, specifically - achondroplasia. For those of you who don't know, this is the most common type of dwarfism. They sent me to a neonatologist to learn more about different types of skeletal dysplasia. Some skelatal dysplasias are lethal, but most have a good prognosis. This was the point when I opted for an amniocentesis to rule out a diagnosis of achondroplasia or chromosomal defect. I felt I needed to do this to prepare myself for what was to come. I had hit my ultimate low...what was wrong with my baby growing inside of me...would I finally have him and lose him all too soon...what did I do wrong...why is this happening to me? Many more weeks of anxiety and anticipation...and then the amnio results came in. Everything was normal!...(Sigh of relief). Still feeling nervous, not sure how my baby will look or what the severity of the cleft will be, but am definitely more hopeful at this point.