|Looking at Celia, one only sees a vibrant, happy playful 5-year old girl who is bursting with life! Her family's pride and joy. No one would fathom what lies within her... what she battles daily, the uncertainty of her future.
When Celia was moments old her right eye appeared to be puffy, she only could squint to open it. Family was assured that this issue would self correct. After a month of squinting a CT scan detected an abnormality with her skull. Surgery was required to correct the problem which if left untreated would crush her eye socket, block her nasal passages and leave her severely disfigured. Celia would need to grow to withstand the 8 hour operation and at a mere 8 months of age she underwent the life threatening procedure. Her family breathed a sigh of relief having the worst behind them. NF2 was silently harming Celia and no one knew.
After her surgery, she began having severe pain in one hand. Her team at Children's Hospital Boston was puzzled by her seemingly unrelated symptoms. Celia after all had no history of NF nor did she present with the typical cafe-au-lait spots, she had only one or two. Celia underwent eye surgery at 1-1/2 years of age to correct a problem stemming from her skull reconstruction of the previous year. Again her family thought all was well.
The strange hand pain continued and finally, she had surgery to remove what was diagnosed as a cluster of veins in her finger but when actually removed, a tumor was discovered. NF still was not suspected given her lack of typical symptoms. Just weeks later during an eye exam at Children's, swelling was detected on her optic nerve. Her team gathered to assess the situation. An MRI was done with no indication of problems and then an LP was ordered. The shocking discovery was made that Celia had extreme pressure in her brain, so much that she should have been in a comma! She was in need of an unprecedented second skull surgery, expansion to relieve the pressure. Scans done on her skull detected yet another problem, brain tumors and tumors along the spinal cord. NF2 was diagnosed and later confirmed. She was only 2 years old.
It was a very frightening time for the family. Everyone involved in her case was shocked, she was so very young to have such a diagnosis. While at pre-op, another unexpected discovery, extremely high blood pressure. Celia was admitted immediately. So many invasive tests were given, it was so scary for Celia and so very hard for the family to watch. Her 8 hour skull expansion surgery was successful but unlike the first time, this time the family was left with uncertainties about her future. Celia continues her visits to Children's (42 times one year!) She has constant pain from her many tumors. Her brain and spinal cord tumors are constantly monitored with MRI scans. Her blood pressure is an issue for which she takes many medications.
NF2 is silent but we cannot be. The hope for Celia's future and others suffering with NF is through funding research. Together we can make a difference.