Wednesday, December 15, 2010

Sera FINALLY has a diagnosis

I have tried to post to my blog for the last few days without success.  You will have to wait to hear about our weekend festivities because I have bigger things to discuss now.  I will try to post those picture tomorrow!

Sera has been home for 11 months and we have seen doctor after doctor.  FINALLY, we have had some success!!!!!!!!!  First, I have found a team of doctors that I LOVE at Cincinnati Children's Hospital.  We have Sera scheduled to have surgery on her hands and feet in March at Shriner's Hospital.  Lastly,  we have a syndrome diagnosis. 

Sera has been diagnosed with Bardet-Biedl Syndrome.  Bardet-Biedl is a rare genetic disorder which affects multiple systems. 

Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.
Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).
Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers and/or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.
Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers and/or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.  Taken from Genetic Home Reference
As you can imagine we still have a lot to investigate.  Sera will be having tests done on her eyes to check her retina's more closely.  She has already lost some of her field of vision.  She basically only has her central field of vision and we are not sure how good that is.   We were told to expect total vision loss at some point.  We will need to check her kidney and liver function.  We already now that she has one cyst on her kidney.  We will need to monitor that to see if she begins to produce more cysts.  Her weight has become a huge issue already.  She is screaming when we do not give her more food.  Although we have already began to limit her food intake she still continues to gain weight.  I am now working with a nutritionist and I am going to start measuring her calorie intake.  Sera is also having issues with her endocrine system.  She is already taking some medications and we will need to add a few more to regulate her system.  We were also told to expect mild to moderate cognitive disabilities.   Of course, we serve a BIG GOD and only HE knows her abilities. 

We are pleased to finally have a diagnosis so we can create a plan of action.

1 comment:

  1. Amen to that! God is good and just knowing the diagnosis is a huge relief, isn't it? Please consider making our home your "home away from home" when you are in Cinti. You are always welcome, we have plenty of room and would love to see you and your family. Even if it is just for dinner to get a break away from CCHMC. We have been there and would love to come alongside you and lift you up. Peace, marcene