Briana’s Story

In the words of her mother, Kathleen:

”Briana was born by C-section on March 27, 2007 in Seattle, Washington at the University. She weighed 8lbs 02oz. Her head was large but nothing too alarming at the time. She did not open her eyes which at the time was fine.

She did not eat much during the first weeks of her life. She lost weight which was alarming. She was admitted to Children’s Hospital where I learned her muscle tone was not where it should be. I had to stop breast feeding her and start bottle feeding her. I was disappointed but she put on the weight so all was fine.

At about 2 months old noticed her eye would not stop moving from side to side. She went to an eye doctor and learned about Congenital Nystagmus. At the same time period her doctor noticed her large head and ordered a CT scan which came back normal.

At about 6 months old eye doctor noticed her optic nerve looking swollen so ordered a first of many to come MRI. The results were not normal so she had to go see a neurologist at Children’s Hospital. During same time period she seen an eye specialist at Children’s. Briana underwent all kinds of blood testing for some pretty scary things.

Briana did not meet many mile stones like crawling, sitting up and walking. I personally believe this was largely due to her head size.

All of her blood work came back normal. We got refered to genetics at Children’s where they drew more blood for tests that came back normal.

After all the tests came back normal our family moved to Oregon. Once settled here we took Briana to doctor’s again. During the time of moving I stopped seeing doctor’s because for the first year I took her every two weeks to the doctor’s office to monitor her head size which grew ever larger over the months. Her body size did also.

I found it incredibly hard to treat her like a normal toddler going to doctor’s who were telling me they were surprised she was alive and functioning.

After 6 moths of no doctor’s I took her to the doctor’s in Oregon. Before seeing her they got all her medical records from Seattle of course. Then came more blood tests which mind you there was only 2 left at this point. In November 2009 I learned Briana has Bannayan-Riley-Ruvalcaba syndrome.

During this time her tonsils and adenoids were removed because I forgot to mention I was monitoring her sleep every night up to this point because she would stop breathing during sleep. She did not eat very well because of her enlarged tonsils. Once she had the surgery man did her life improve so much.

Briana was placed in the Early Intervention Program also because of her vision which is still in to this day. She has normal intelligence for her age of 3 yrs old. Mind you she is 3 yrs old but is the size of a child of 4-5 yrs old.

Most of her medical now is vision related. BRRS is different for every case and for Briana hers is optic nerve. She will be getting a lumbar puncutre soon to find out what is going on with her optic nerve whither or not it really is swollen.

She gets constipated a lot have found taking her on regular walks helps with that plus her diet. I do not know what is in store for her future so I try to enjoy every moment I can with her.

My husband and I tested negative for PTEN.

I am still concerned about her having BRRS and what is in store for her future. I know she is soooo happy and enjoys life to the fullest. I try not to think about her future and live for the moment with her. Just remember we are all special and created with love by God. I personally feel blessed to have Briana in my life.”

Kathleen wrote about the results of Briana’s lumbar puncture: “ Briana has Idiopathic Increased Hypertension. They are given Diamox. She has been on the medication for sometime now and it has helped her so much. She used to fall a lot while walking and had horrible headaches. She still stumbles but she is only 3 yrs old but she now runs and jumps. She for some unknown reason her spinal fluid was not draining properly. I do not completely understand her condition.”