Raising awareness and funds, but first the story…
RAINA, our miracle, our hero, our inspiration. She loves snuggles, kisses, massage, bath time, her doodle siblings, music, singing, nature walks, grounding, and holding tightly onto fingers!
She’s the bravest, strongest, most resilient little girl. And she also has a rare and severe form of epilepsy.
It’s time to tell her story, to raise awareness about EIEE and how it has deeply affected us, and to share our family’s journey so far.
After a few weeks of unusual behaviour, and a few videos that captured it, we got the advice from an online paediatrician to bring Raina to CHEO, the Children’s Hospital of Eastern Ontario, to have her assessed. The next day we brought her to the ER, she had the full gamut of diagnostic testing, and finally once she was hooked up to EEG it was obvious that she was having seizures. It was last Spring, May 11, 2022, just a few days shy of her being 4 months, Raina was diagnosed with epilepsy. At that time, that’s all we knew, we didn’t know the cause or the implications. This was the beginning of our roller coaster ride.
From May 11th to July 4th of last year, we spent the majority of our time in hospital. Raina was admitted 3 times during that period, 4 days the first time, then a few days later we were back by ambulance for another 5 days, and then the 3rd time, arriving by ambulance again, we were there for 6 weeks straight. It was an intense period of trial and error with medications and treatments. Nothing seemed to be helping. Her seizures were relentless, she was having upwards of 40-50 per day, that we were witnessing. She had to have many “loading doses” of anti-seizure medication via IV to stop the seizures. Raina has what’s called intractable epilepsy, meaning that she is drug resistant, and her seizures do not respond (well) to medication…this is the case for 30% of those living with epilepsy.
On May 31st of 2022, she experienced status epilepticus, which is a dangerous state of non-stop seizing, or very little recovery time between seizures. It didn’t take long before we were transferred from the ward to the pediatric ICU and she was quickly hooked up to EEG, pulse oximeter, ECG, given oxygen support, had a nasogastric feeding tube inserted, needed IV locks on both feet and one hand, and given a rescue medication that eventually stopped the seizures…but also sedated her for 2 days. It was absolutely terrifying to watch our baby girl go through this. She eventually recovered from the heavy sedation, and she was stable enough to be transferred back to the ward. We would spend the next month living in shared hospital rooms on 5East as we tried her on all sorts of anti-seizure medications. There is no “one size fits all” for epilepsy treatment, it’s completely different from person to person. Throughout this time, she unfortunately regressed a lot in terms of her development. As you can imagine, seizures take a tremendous toll on the brain…and hers were (and continue to be) difficult to control.
It was on June 14th last year that we learned from Raina’s neurologist at the time the results of her genetic testing. Her epilepsy is of genetic origin, due to a spelling mistake in the GABRB3 gene, or as we like to call it “Gorgeous Angelic Baby Raina’s Brain is 3x Faster”. It is de novo in Raina, meaning that neither Brian nor I have this genetic variance, it spontaneously arose in her, early in her development. The location of this genetic variance involves the function of GABA, which is a neurotransmitter that regulates activity in the brain. Alterations in these chemical messengers, too much/too little circulating (in Raina’s case, a gain of function) can cause seizures. There is small number of other children with GABRB3 mutations reported in literature, but no one else reported with the exact same variance as our Raina. There is no GABRB3-specific treatment or cure…yet. And there is very little information about this rare epilepsy syndrome, which makes things very challenging and unpredictable. Raina’s seizures are migrating multifocal seizures, which are some of the most difficult to control, because they start in at least three different parts of her brain and move, or migrate, to other areas. With these types of seizures, and her age group, the epilepsy syndrome is considered Early Infantile Epileptic Encephalopathy. EIEE is a really tough diagnosis. It’s a very rare and severe form of epilepsy. The long-term outlook is heartbreaking, and our road ahead will continue to be challenging. But we are grateful for every day with her, and we remain hopeful that the treatment plan and solutions are out there…they just have not found us yet. In the meantime, we pour every ounce of love and energy into our sweet Raina, who reminds us every day of how incredibly strong and brave she is. She has overcome SO much, and we’re absolutely in awe of her
How is Raina now? Well, she’s as sweet, strong, and brave as ever. But we have massive ups and downs, and her seizures and sometimes her behaviour is completely unpredictable. The seizures affect everything in her life - sleep, feeding, movement, vision, poops and even breathing. Our days are very full in caring and managing all her complex needs. She requires her feeds, medications, and supplements at specific times throughout the day to keep her as stable as possible.
A big part of Raina’s treatment is her diet. She was started on a very strict ketogenic diet while she was in ICU last Spring. She has been in ketosis for over one year now and is producing ketones like a champion. “The classic ketogenic diet (KD) is a high-fat low-carbohydrate diet therapy designed in the 1920s. The KD induces ketosis and alters metabolism in the brain. This alteration in brain metabolism induces antiseizure effects, and KD can be used successfully to treat patients with pediatric epilepsy. The KD has also been identified as a useful therapy for antiepileptic drug-resistant epilepsy (which is the case for Raina). Despite almost 100 years of clinical use, the mechanisms underlying the antiseizure effects of the KD are not fully understood.”
We work very closely with Raina’s keto dietician to ensure she’s getting exactly what she needs, and everything is measured on a gram scale for accuracy. For the first 7-8 months, her diet consisted mostly of KetoCal formula (a therapeutic pediatric formula designed specifically for little ones with intractable epilepsy), with a tiny amount of expressed breast milk, and water mixed. When Raina turned 1 in January this year, we were thrilled to start the process of weaning her off the not-so-great-quality KetoCal and to start introducing real foods. It was a slow transition, gradually adding in one real food at a time and decreasing the amount of formula in her feeds. We’re happy with her current recipe; it’s nutrient dense and she has been tolerating it well. All ingredients are carefully measured and blended really, really well in our Vitamix: avocado, cooked salmon, blueberry, chia seed, flaxseed, olive oil, MCT oil, multivitamin powder, carnitine and water. Raina receives all her feeds, meds and supps via G-Tube directly into her tummy.
Her feeding challenges began early on, but especially after the ICU, when she needed her first NG tube for feeding support. We worked to transition from NG tube feedings back to mostly oral feeding last summer, but then started seeing a regression in her feedings, where she wasn’t quite managing the liquids well (i.e., not swallowing). She was coughing and refluxing more, and especially when she experienced increased seizures. The hypotonia is why oral feeding eventually became dangerous. Low muscle tone affects all body movements, and in this case, internal muscles responsible for swallowing, peristalsis, motility, etc. Oral feeding with low tone can also lead to increased risk of aspiration, which is a big concern, and it has happened to Raina. She eventually had surgery last Fall to get her G-Tube (gastrostomy tube) after over 4 months with a nasogastric (NG) feeding tube. Her feeds are spread out every 5-6 hours to allow for gastric emptying, which is slower due to low tone.
Not only does hypotonia make oral feeding impossible, but it also creates issues in managing her secretions – swallowing and coughing drool or mucus. Helping Raina to manage her secretions has become increasingly more challenging over the past few months, likely because she’s teething and producing more saliva, and getting bigger and the hypotonia is more exaggerated. She recently had Botox injections in her salivary glands to help reduce saliva production. We unfortunately haven’t noticed much improvement yet. To help manage her secretions, which affect all daily activities (exp. limited time on her back) we do postural drainage, use a nebulizer for saline misting to thin out mucus, and use a portable suction machine when needed.
Raina’s epilepsy syndrome is the cause of developmental delays (cognitive and physical), the severe hypotonia and cortical visual impairment (CVI). We work very hard to fit in physio throughout the day, whenever we can, if the day allows. We know how critical it is to help her move her body in ways that she is not, to create more body awareness, but most importantly to improve her strength. Movement is life after all. We’re still working on mastering head control…progress is slow, but it’s progress. We celebrate inch-stones, not milestones. We also work on helping her to see, by building her visual behaviour with CVI friendly toys and objects — solid red & yellow objects with movement and shiny properties on a black background work best. Keeping Raina’s days as consistent as we can is key to keeping her to stay as calm, comfortable, and stable as we can. It’s an extremely fine balance of managing everything, and if one thing is off, it creates a ripple effect.
We’ve been in and out of hospital, both for scheduled and emergency visits/admissions since last Summer. She has had many multiple day episodes of intense neuro irritability (we call them bRain storms) with inconsolable crying (without tears), agitation, and minimal sleep. These bRain storms have been like moon cycles, happening every 4-6 weeks and can last up to 5 days straight (!!). During these episodes, nothing really seems to help. We’ve tried all sorts of things; cuddling, rocking, swinging, swaddling, car seat, stroller, going outside, weighted blanket, vibrating mat, binaural beats, white noise, silence, sensory lights, darkness, and a ton of different medicines…the only thing that has helped a bit is morphine, which takes the edge off and quiets the whine crying. It’s just awful watching her go through this and absolutely exhausting for us all. Eventually the ‘storm’ runs its course and subsides only with time…then it’s like a switch goes off and the most beautiful rainbow appears…our Raina is back
I can’t explain how difficult it has been for our family, but especially for Raina, who is living this as a baby. It’s easy to be very, very sad about all of this. And we breakdown often. Being a parent of a baby with exceptional needs is incredibly challenging, in every way imaginable. This is nothing like the life we envisioned for our family, but especially for our baby girl. It breaks our hearts that Raina is going through this experience. But then I think about the three miscarriages that I had before her. She’s a miracle. And even though we have very difficult days and weeks and months, her presence is an absolute gift. She is the mightiest tiniest hero, the strongest little warrior. Remarkable beyond all measure — a starseed, as her auntie says, here to inspire and teach us all…which she does every single day. She is an exceptional soul, following her our unique path and we’re advocating and supporting her in every way we can. We’re honoured and so proud to be her mama & papa.
They say it takes a village to raise a child. Well, it takes a small city to raise, support and care for an exceptional soul. We are grateful to have a wonderful care team for Raina. We are in constant contact with her team of therapists/specialists and have ongoing medical appointments (in-home whenever possible because travelling with Raina is difficult). This includes occupational therapy for feeding / seating / mobility, physiotherapy for gross motor development, visits with her CVI specialist to build Raina’s vision, consults with respiratory therapist for secretion management, neuro feedback therapy, chiropractor to optimize her brain body connection and nervous system, check-ins with her neurologist for seizure tracking updates and medication changes, check-ins with her dietician to adjust her feeds/supplements, follow-ups with the CBD doctor re dosing, regular EEGs to monitor seizure activity, regular bloodwork to monitor ketones and ensure her diet is adequately meeting her nutritional needs…and then we have social workers and family resource workers and service planning coordinators who are helping us fill out forms and applications for funding and services that we are (unfortunately) eligible for because of Raina’s complex needs. The list is growing as Raina grows, it seems.
Some of our current out-of-pocket expenses include CBD oil (for sleep and mood), Botox injections (to reduce saliva production), private physiotherapy and chiropractic care, specialized torso wrap for positioning and postural support, medical supplies for G-Tube feeding, and we have started looking into stem cell research ($12-20K US) for drug testing her specific gene variance.
Raina is currently on 4 anti-seizure medications, CBD oil and a strict keto diet to help with seizure control. All of this is not enough. She still has daily seizures. We need solutions, and new treatments. And we know that with research there is hope, and eventually a cure.
PLEASE keep Raina in your thoughts and prayers We feel the love, it carries us all.
PLEASE also consider donating for Raina - no amount is too small.
We THANK YOU from the bottom of our hearts
And to our family and friends who have helped and supported us for the past year+, we are beyond grateful. For taking care of our other babies Kali and Zeke, for all the gifts for Raina, for bringing over meals, for giving my parents a place to stay when they are in town to help us, for having our house cleaned, for planting food in our garden, etc. etc.…. we could not and still can not manage without you.