A Couple's Agonizing Story
NICOLE KARINA NORONHA was born on Monday, October 4, 1993 at 11:17 p.m. at Holy Cross Hospital in Silver Spring, Maryland. She was 8 lbs 4 ozs, 21 inches long, and had to be delivered by Caesarean Section. Her APGAR score was a "Bo Derek" 9 out of a possible 10. For you non-parents, Virginia Apgar devised a newborn rating system. We started the day by showing up [at noon] at nearby Shady Grove Hospital in Rockville, MD as we had planned to for the past six months. Our uneventful, 30-minute wait in the lobby was going splendidly until our casual inquiries led to the discovery that our OB/GYN was waiting for us at a hospital 20 miles away. Their office staff had messed up big time. We dragged in there at 1:30 p.m. Induction began at 3:30 p.m. Ruby labored in vain (... and pain!) until 10:30 p.m. Forceps were attempted unsuccessfully followed by that dreaded last resort - a C-Section. In that dazed, magical moment, I yelled incredulously, "Wow! It's a Boy," only to be informed by the doctor that what I was marvelling at was the umbilical cord!
On October 23rd, Ruby went to her parent's place in Queens, New York, I went on work to Georgia, and my mother, Nellie went on a 2-week vacation to the West coast.
Then events caused our lives to go into a tailspin. Our daughter, Nicole, was diagnosed with Aicardi's Syndrome (AS) on November 29, 1993. We had never heard the name of Dr. Jean Aicardi before this day which turned out to be a Black Monday for us. Now we feel that we are slowly and painfully becoming experts on his syndrome. Our tragic story follows.
Ruby had been with her parents in NY since October 24th and first noticed Nicole having what we now refer to as a seizure on November 23rd. Only her hand(s) twitched a bit at the wrist. By Thanksgiving Day (11/25/93), Nicole had a few more seizures so Ruby panicked and took her to the emergency room (ER) at Jamaica Hospital, NY. She did not have any seizures whileshe was there, so they checked her vital signs and discharged us. Unaware of all this, Cliff drove up as planned from Washington to bring wife and daughter home.
Sometime later, at Shady Grove Hospital, Nicole had a mild seizure in the ER. Her doctor ordered a Computerized Tomography (CT) "CAT" Scan of her brain. Later, with his head bowed, her pediatrician told us that her CT scan looked "seriously abnormal". We turned as white as sheets. We pressed him for the worst case scenario. He said, "If you really want to know, she could die". We broke down and sobbed for hours. As the night wore on, we began to think, "Death is actually the second worst outcome. The absolute worst disaster would be if Nicole had to merely exist in a vegetative state". We then waited a couple of hours to get an ambulance to take us down to Children's Hospital in Washington, D.C. They admitted us on November 27th at Children's National Medical Center (CNMC). Not much happened over the weekend.
On the 29th, an ophthalmologist dilated Nicole's pupils and looked into her retina. He reported to Dr. Roger Packer that he saw "punched holes" or lesions which are symptomatic of AS. Dr. Packer, Chairman of Neurology, performed various hands-on tests on Nicole and confirmed the diagnosis. We were told that our baby would never see, talk, or walk, and be severely mentally retarded. We reeled from the news and our whole universe turned pitch black. The sensation was not unlike being kicked hard in the stomach. Ruby fainted and had to be wheeled away to the Washington Hospital Center across the street. Cliff was left in an emotionally charged state and alone with the baby and consequently broke down and wept uncontrollably when a counsellor came to try and comfort him.
Nicole was scheduled for a Magnetic Resonance Imaging (MRI) scan on the 30th, ahead of many others in the 8-week long waiting list. The MRI yielded accurate and clear pictures of her brain which further confirmed the diagnosis as Aicardi's Syndrome (AS), named for Dr. Aicardi who discovered it in 1965.
Dr. Aicardi is now in his 70's and is a practicing neurologist in France. Since then, only 300 cases of this rare genetic disorder have been reported, get this, in the entire world! Some of those have died. Others are now in their teens. It is definitely NOT hereditary but it is an extremely rare chromosomal copying error that causes a single gene defect on one X-chromosome. Since females have a good X to shield the bad X, they survive the entire pregnancy and go full term. Male fetuses only have a Y chromosome (which is not strong enough) to protect the bad X, so they always end in miscarriages. Ergo, all living cases are girls. Aicardi Syndrome consists of a missing or partial corpus callosum (the membrane between the two hemispheres of the brain) which contains essential wiring. Another manifestation of AS are the defective optic nerves where they meet the retinae. AS is a spontaneous gene mutation that is impossible to anticipate and has never recurred in the same family. Right now, we can't imagine how a couple can be reckless enough to even chance having another girl after an Aicardi Syndrome daughter. We were devastated by the emotional hammering we have taken. Since then we have mourned the "death" of the normal child we thought we had for 2 months and have gone through various phases of heart-wrenching grief before accepting our new baby as God has given her to us. Without the support of our families, friends, and co-workers, it would have been difficult to endure this crushing and tragic blow. After a week, our tears were exhausted and we couldn't cry any more.
We are now at the point where we have accepted the fact that God has chosen us to be Nicole's parents and have set radically different standards both for her and for ourselves regarding our future lives which, we might add, bear little resemblance to our lives before Thanksgiving. I analogize that our future struggles will be like furiously swimming upstream in the rapids of life ... at the end of our journey, we will either be flailing in the same spot or we will have slipped behind, but our [emotional & spiritual] muscles will be a lot bigger and stronger. The conventional yardsticks of earthly success will gradually lose their meaning for us. We may have to await our rewards in heaven, if God allows us to join Nicole there. Now we pray to God that Nicole will prove the doctors wrong and will at least be able to see and/or walk. We pray that He gives us the strength and courage to bear our future hardships with fortitude. Ruby intends to look into various forms of stimulation and therapy. We know that Nicole can hear; especially Ruby's soothing voice versus other sounds. We think that she can also distinguish between light and dark. The muscles in the back of her neck are not strong, so she can't bring her head forward when she's lifted up by her arms from a prone position. Her spinal X-ray shows that her vertebrae are not fully developed but we are told this will not impact her posture functionally. Developmentally, she is at the 1-month level. She loves affection and nuzzling. She also attempts to talk by yelling and making gurgling noises.
She is cute and adorable and we were reassured that this won't change and she won't be dysmorphic. Small consolation. She looks perfectly normal, and were it not for her seizures, one would never know the cruel truth. She will be on daily medication (oral phenobarbital and daily ACTH injections) the rest of her life in order to restrict the seizures and infantile spasms (which are believed to further damage the brain) to about 4 clusters a day. The seizures and spasms are even capable of waking her up thus interrupting her own sleep, and consequently ours as well. The prognosis for the quality of Nicole's future life runs the gamut from dismal to abysmal. Ruby has talked to the mother of a 16-year old Aicardi girl who has not even moved all her life and is fed liquids via a tube inserted through her nose. Such a scenario is unthinkable to us right now. At this point, faith is keeping us going. We're seeking support groups to help us not to feel singled out and alone. We don't plan to give up and we hope that you will join us in praying for a miracle. We had no control and therefore no guilt in making this happen, so only God can either undo the damage that has been done or take her peacefully.. We don't doubt His ability, only His willingness and mercy. We know and expect the worst but pray for the best. Each little thing that Ruby can teach Nicole to do for herself will mean one less thing we'll have to do for her, making our lives a wee bit easier. We no longer take our own normal human condition for granted and thank God constantly for this gift. It can be snatched away in the blink of an eye.
Thank you for listening to our fears and hopes. Please feel free to send a copy of this story to those we may not be in touch with. From a [pediatric neurology research, or really any] perspective, leads and information from anywhere will always be welcome.
In 2000, Our Story Continues..
Over six years have gone by since we wrote the story about our experience with the diagnosis of Aicardi Syndrome. Much has happened to us, as a family most of it has been positive.
No, Nicole is not walking or talking. Developmentally and mentally she is severely delayed, yet we feel as if many miracles have happened. Nicole cannot hold her head up and therefore cannot sit up by herself. She has developed scoliosis due to this. For this she has a brace. She cannot walk and so her feet are not at 90 degrees to her ankles. She wears ankle foot orthotics. Due to the poor posture of her lower body she has a dislocated hip, for this too she wears a brace. Nicole is blind, but we think she can see light and dark and maybe some bright colors. Nicole cannot chew and she does have difficulty swallowing and so everything she eats has to be puréed.
Seizures are another story. Nicole has never been seizure free. We do have a couple of days of no visible seizure activity but these good days don’t last long. Currently Nicole has two to three strong seizures a day and we don’t even count the small ones any more. She takes Mogadan (Nitrzapam) 5mg/ three times a day. Nicole also takes 100 to 200 mg of Vitamin B6 a day.
Remember the miracles I told you about? Nicole loves her daddy and responds to him more than anybody else. We love Nicole for who she is and don’t think about what she cannot do but delight in what she can. We have a stronger marriage thanks to Nicole. We have never doubted in the power of God. And our latest miracle is our second daughter, Anjali, born August 23rd, 1999. Everyday is a miracle because we choose to see it this way.
We thank all of you for your support. Without which life would have been so much harder. You are truly miracles in our lives.
CLIFF, RUBY, NICOLE, & ANJALI NORONHA
09-16-2008
