Dandy-Walker Syndrome

Overview:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

Symptoms:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

slower motor development and progressive enlargement of the skull. increased intracranial pressure also causes symptoms such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Testing/Diagnosis:
Prenatal diagnosis is possible with ultrasound. Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis. MRI and CT scans aswell as genetic testing.

Treatment:
Treatment for individuals with Dandy–Walker Syndrome generally consists of a shunt to reduce intracranial pressure, it is placed inside the skull to control swelling. Endoscopic third ventriculostomy is also an option. Treatment may also consist of various therapies such as occupational therapy, physiotherapy, speech therapy or specialized education. Services of a vision teacher may be helpful if the eyes are affected.

Resources:
Www.Dandy-walker.org

Personal Story:
When I was pregnant I had my first ultrasound at 21 weeks, they couldn't determine the sex, and they had to have the doctor come and re-look at the brain. There was a mass of fluid in the back and they told me it was most likely spina bifida and that they couldn't tell me a positive answer unless i went through for more testing. I knew , regardless of what the condition was, God made my child PERFECT in his image & had a true purpose for this and didn't accept further testing & the genetic counselor and doctors recommended an abortion. I don't think I've ever cried so much, they made me feel so horrible and that my child wasn't going to walk or talk, basically not do anything. I decided to change my OB/GYN and get a second opinion at a different hospital and i went to Tufts Medical Center in Boston. There they did an ultrasound and said we see the fluid , and it is what we call a Dandy-Walker Syndrome (DWS). Finally after 3 months of ultrasounds at the previous hospital , I have a name/condition to what they found! They told me basically not to be afraid, it varies WIDELY ! there are some children who suffer greatly and others who have no signs or symptoms other then headaches and nausea. They told me it is basically something we have to take day by day through his life. I delivered my baby at 36 weeks & 4 days, on April 9th 2013 @ 2:53am at Melrose-Wakefield Hospital to a beautiful baby boy my husband and I named, Yael (Ya – as in yacht; el – as in the letter L ) Jeremiah. His name in Israel means, God's Strength. At birth my son was taken to the NICU and 12 hours later was transported to Tufts Medical Center. My son was born with a list of things we would have to follow up with, he had Jaundice, his blood platelet counts kept dropping ( which we found out our bloods platelets are different and i create very rare antibodies that attacked him- NAIT) , he had a Coarctation of Aorta, Hypospadias, He Had A Hemorrhage of the brain and lastly it was certain Yael had DWV. The first few days were so hard, because my son was faced with SO MUCH! it wasn't just this one thing. after 2 weeks, my son was discharged from the NICU & came home. He had an emergency shunt placed on September 9th, 2013 because he also developed hydrocephalus. He is such a miracle and has proven every negative thing against him wrong. he is developmentally on track and he isn't behind at all. its still early and i know my son is still a baby, but doctors told me he wont even talk, walk, they basically considered him brain dead & My son truly showed me , that doctors ARE NOT GOD ! there are still so many unanswered questions when it comes to science & to the brain. We just learned to have hope, don't doubt anything. Have faith even if it is as small as a mustard seed, the possibilities are endless. I'm dedicated to raising awareness for these conditions and start something in the Boston Area, because there isn't anything for DWS & hydrocephalus. I will keep updating on my sons progress, cause i know he is going to go beyond what doctors think! God Bless everyone!

Contributed by MOM Brittany Argueta

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