A mother shares her challenging journey of caring for a daughter with a rare genetic disorder affecting the brain and other organs of the body
By Mylene C. Orillo
It’s hard to stay positive when your child is sick. Even with simple coughs and cold, a mother gets agitated and worried. What more if it’s a life-threatening illness?
It took three years for Richelda “Chie” Santos to finally have the courage to openly talk about her daughter’s condition. Not because she’s ashamed of it but because she needed to collect enough strength to do it.
“Before, I would usually end up crying and getting too emotional every time I would talk about her. But this is the start. I will continue to post and share about my daughter’s journey as I (and my family) experience a beautiful life with her,” shared Chie.
Four-year-old Sopia Grace or “Pia” is Chie and Alejandro’s second child and a byproduct of Chie’s uneventful pregnancy and delivery. She was delivered exactly on her 37th week after ultrasounds (which were actually done three times) confirmed a condition called ventriculomegaly (hydrocephalus). This finding indicated that her brain has large fluid filled structures inside.
“When the ultrasound result was explained to me, I was in deepshock. I cannot contain my emotion during that time and was actually hoping that I was just dreaming. So yes I had to accept and face my daughter’s condition no matter how hard it was,” shared Chie.
Two days after series of tests, Chie delivered Pia via Caesarian Section so that the immediate treatments for her baby could already be done.
Preparation for surgery
To prepare Pia from the treatments and surgery, series of tests were done. On the sixth day after Pia was delivered, she underwent cranial ultrasound. Sadly, the test revealed that Pia’s brain showed a condition called agenesis of corpus callosum with dilated lateral ventricles and a presence of large choroid plexus cyst.
Meaning, aside from hydrocephalus, she does not have a corpus callosum (part of the brain which according to the doctor works as a bridge between the left and the right brain and commands the left brain to work if the right brain is not functioning and vice versa) and there is a cyst inside her brain.
To check further, a CT scan was also done. Result of which confirmed the result of the cranial ultrasound. Because of the findings, Pia was referred to a neurosurgeon to plan and do the ventriculoperitoneal shunting (VP Shunt) immediately.
“I cannot imagine how we managed to even look at our daughter while she was undergoing the tests, the early treatments and the surgery. The sight of needles, medical tubes, and bags of blood and my daughter’s blackened arms and legs because of countless blood tests were too much to endure. The tests up to the doctors’ (neurologist, neurosurgeon, and pediatrician) daily hospital room visits to tell us bad news regarding the lab results were more than devastating,” said Chie.
Apart from the countless tests, Pia also needed several bloodtransfusions because her plasma during that time was not normal. The operation cannot be done because the plasma which helps the blood clot during surgeries should be stabilized first.
Thankfully, after three days of continuous blood transfusions and medical preparations, the surgery was done.
Just when Chie thought that after the operation everything will already be alright, other tests done led them to what anyone would never wished for.
“Pia’s X-ray indicated that she also has a scoliosis while her eye test (ret-cam) result showed chorioretinal lacunae at the inferior macula and superonasal portion of the retina of the right eye with hypoplastic optic disc while the left eye showed juxtapapillary lacuna with normal optic disc,” said Chie.
In simpler terms, Pia is expected to suffer due to her scoliosis and that her eyes revealed several scars inside and outside her retina which can affect her vision.
With the mentioned medical findings, Aicardi syndrome was considered as Pia’s condition. She was also referred to a geneticist who concurred with the diagnosis.
Understanding Aicardi Syndrome
Dr. Lucy Kathrina Banzali, a pediatric neurologist at Philippine Children’s Medical Center in Quezon City and Pia’s doctor, explained that Aicardi Syndrome is an extremely rare genetic disorder that occurs almost exclusively in females.
This syndrome was classically characterized by a triad of features: agenesis or dysgenesis of the corpus callosum (absent or underdeveloped tissue connecting the left and right halves of the brain), distinctive chorioretinal lacunae (defects in the lightsensitive tissue at the back of the eye/retina), and infantile spasms (seizures beginning in infancy) which tend to progress to refractory epilepsy.
“Pia presented with these three features during infancy leading to our diagnosis of Aicardi syndrome,” said Dr. Banzali.
In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain.
“These eye abnormalities may cause blindness in affected individuals. Fortunately, Pia does not have these conditions,” stressed Dr. Banzali.
The severity of Aicardi syndrome varies. Some people with this disorder has very severe epilepsy and may not survive past childhood. Less severely affected individuals, like Pia, may live into adulthood with milder signs and symptoms.
“At present, Pia’s seizures are controlled but she would have seizure breakthroughs whenever she develops an acute viral infection or any systemic illness,” she added.
Since Aicardi syndrome is a very rare disorder, researchers estimate that there are approximately 4,000 affected individuals worldwide. It occurs in about 1 in 105,000 to 167,000 newborns in the United States.
To date, there is no Aicardi Syndrome registry in the Philippines. There is also no reported case of Aicardi Syndrome in the Philippine Pediatric Society Registry as of April 2019.
According to Dr. Banzali, the cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome.
Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family.
“Extensive interview on Pia’s family also did not reveal significant family history or any history of heredofamilial illnesses. Thus, her disorder is believed to result from new gene mutations,” revealed Dr. Banzali.
Aicardi syndrome is classified as an X-linked dominant condition. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell is nearly always lethal very early in development. This explains why almost all babies with Aicardi syndrome are female.
A mother’s nightmare
Chie couldn’t hardly recall sleeping and taking some time to rest during those times despite her caesarian section delivery, which required full recovery.
“What’s on my mind was to make sure Pia will be treated immediately and have the necessary interventions the soonest possible time. No matter how hard it was, what I can recall was how my husband and I tried our very best to be positive,” said Chie.
If Chie had been very expressive of her emotions, her husband was the opposite. He tried to hide his by refraining from expressing his thoughts and emotions and focusing instead on discussing and attending to matters related to the medical treatments and procedures of their daughter.
“My husband was also very busy addressing the needs I can no longer attend to,” said Chie.
And so the challenges continued. When Pia turned six months old, she developed infantile spasms and focal seizures. That time she was already learning how to roll, utter ‘dada’ and ‘didi’ and to even respond when her name was called.
“Unhappily, my daughter forgot everything she’s started to learn because of the seizures. According to Sophia’s neurologist, every time a person suffers from seizure attack, the brain is being reformatted just like what happens to a computer. No words could explain how sad we were that time,” said Chie.
Even when a child’s sleeping, a single noise could cause her seizures. Extreme emotions, hot weather and fever are also among the factors that could trigger seizure attacks. To control it, her doctor prescribed her an anti-convulsant medication which Pia must take religiously.
Follow up check-ups also revealed global developmental delay, hence, Pia was referred to a neurodevelopmental pediatrician and rehabilitation medicine specialist.
Since then, she started attending regular physical and occupational therapies for her early interventions, and hopefully, she will also attend regular speech therapy sessions the soonest possible time to also address her speech delay.
Advice on mothers during conception
According to Dr. Banzali, the risk of having the same condition to Pia’s sibling(s) is less than 1 percent.
“No instances of mother-to-daughter transmission have been documented, so we can forego the genetic workup of Pia’s parents. Years from now if Pia were to conceive, the risk that the mutant allele will be transmitted could be 50 percent,” she said.
Early and regular prenatal ultrasound examination or fetal MRI may be done as they may already detect some features of Aicardi syndrome.
Unfortunately, prenatal testing by molecular genetic testing is not possible as the gene(s) in which mutation is causative are not known.
Treatments and therapies
Treatment in patients with Aicardi syndrome is individualized. Pia has Generalized Onset Motor (Myoclonic) Seizures (based on 2017 ILAE Classification of Seizure Types) for which she was given an anti-epileptic drug (AED) for adequate seizure control.
Pia also has congenital congenital hydrocephalus, a known comorbidity of Aicardi syndrome, which was managed with ventriculoperitoneal shunt placement.
She also has global developmental delay that is being addressed by regular physical, occupational, and speech therapies. She is on regular neurology, neurodevelopmental medicine, ophthalmology, and rehabilitation medicine follow-up.
Pia also referred to a geneticist for genetic evaluation and counselling. Regular medical surveillance on her case during followup check-ups includes routine dermatologic evaluation to monitor for vascular and other malignancies, monitoring for gastrointestinal complications, and monitoring of the spine to assess the degree of scoliosis.
On medical marijuana
Pia’s epilepsy is brought about by her syndrome and concomitant abnormal brain structure. An estimated 1 million Filipinos suffer from epilepsy and 30 percent are considered intractable due to continued seizures despite treatment with AEDs.
“For this subset of patients, there has been a clamor to find the best suited drug, including medical marijuana, to control the seizures. Just last month, March 10, 2019, a consensus statement of the Philippine League Against Epilepsy (PLAE), Philippine Neurological Association (PNA), and Child Neurology Society, Philippines, Inc. (CNSP) was released on the use of Medical Marijuana for the treatment of epilepsy,” revealed Dr. Banzali.
This states that “Pharmaceutical grade cannabidiol can be accessed for compassionate use through the Philippine FDA. As doctors, we have been working hand-in-hand with government agencies to assist our patients in obtaining access to safe and effective medical marijuana.”
As clinical trials on the efficacy of cannabidiol for treating seizures have shown positive results leading to the approval of the pharmaceutical grade cannabidiol by the USFDA for this indication, PLAE, PNA, and CNSP are also recommending the conduction of local research to assess the safety and efficacy of medical cannabis for Filipino patients with epilepsy under the current regulatory framework of the FDA and Dangerous Drugs Board.
These societies further reiterate that “Any other form of cannabis for the treatment of other epilepsy types or syndrome should meet all the Philippine FDA requirements for approval, including a thorough quality control process to ensure the safety of the patients.”
Importance of support system
“My husband and I are thankful beyond words for the support system provided by our friends and families. They gave us extra strength particularly during those times when despite trying to be positive, we felt weak and shattered,” said Chie.
She said it was during those times when she actually realized how important it was to have a loving and supportive family. People around cheering them up and expressing their willingness to support them anytime.
“It’s too painful seeing my own child suffer; but, seeing how strong she is, there is no reason to be weak or to give up. So far, Pia is doing great. She is loved by everyone for being so active, responsive, happy and loving little girl,” said Chie.
Despite Pia’s condition, Chie considers her daughter more than a blessing to her family. No matter how difficult things may be, Chie and Alejandro will make sure that they will give her a normal life she deserves.
“My family and I will never stop protecting, caring and loving Pia,” said Chie.