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Gillian’s Story: So much to teach the world

Tags: connections, KCNQ2, KCNQ2, KCNQ2 Journeys No comments
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It seems like families receive new diagnoses of KCNQ2 on a weekly basis, but some “old timers” can remember a time when there were only a handful known to each another. Gillian’s family first shared her story almost three years ago, and we want to thank mom Nancy and for this wonderful update. Sharing stories represents not only a special generosity, but also the very real need to connect and know we are not alone. That is as true now as it was when we first met this special young lady.

It has been three years since Gillian’s diagnosis. Today at the age of seven she continues to be an active and happy girl. She has finished the second grade and is doing very well in school. She loves listening to music and dancing. She enjoys swimming and gymnastics, especially jumping on the trampoline.

25870427843_6f61ddfcba_zLife with Gillian is unpredictable. As an infant we parented Gillian much in the same way you would any other baby but with the added worry of managing her meds. As she began to grow her inconsistent sleep patterns resulted in severe temper tantrums. This combined with Gillian’s inability to communicate her needs made life difficult at times. Although she is still nonverbal her receptive communication is fairly good and she is better able to understand what we say. Her expressive language is also coming along and we have begun using an iPad to help her communicate.

Read how our friend Molly uses her Nova Chat to communicate.

Gillian’s behaviours are less frequent these days but physically more difficult to manage. We love our little girl and her determination and hard work continues to amaze us. We feel very blessed to have such and amazing community of KCNQ2 families with whom we can share both the good and difficult times. It would have been great to have their support early on as we have learned so much from them in the past three years. Gillian’s future continues to be uncertain but we no longer have to face it alone. Together our amazing KCNQ2 kids have so much to teach the world.

We invite you to share your KCNQ2 Journey here.

Giilian’s original story

On December 29, 2008, we gave birth to a beautiful baby girl. Although she was initially quiet, her newborn cry soon filled the air. We were overcome with joy and love that we were eager to take her home to meet her big brother. After waiting the requisite 24 hours we took our beautiful baby girl home, unaware that anything was wrong. Friends and family dropped by and we celebrated the end of a very happy year.

Gillian

By the morning of January 1 we were sure something must be wrong. Gillian was making odd movements, her body was stiffening, her head turned to the side, and her eyes deviated followed by a loud-pitched cry and rapid heart rate. A trip to our local children’s clinic confirmed she was having seizures. We took her to the Hospital for Sick Children in Toronto. While in triage, Gillian had another seizure and was immediately admitted and taken for testing. Blood tests, a spinal tap, CAT scan and a MRI all followed. With the exception of an EEG, which showed abnormal brain activity, all tests were negative. Gillian was admitted to the hospital, and over the next 28 days she would continue to have seizures. With the help of three different medications Gillian had her last seizure in hospital on the day we brought her home.

Over the next few years we parented Gillian without a diagnosis as genetic and metabolic testing continuously produced negative results. Despite obvious developmental delays, Gillian eventually learned to walk at age two. In the spring of 2011, at the age of 3½, Gillian was finally weaned off her last anti epileptic. Genetic testing continued to produce negative results and we were prepared for the possibility that we might never know what was truly wrong with our daughter.

It was not until a year later on request by her neurologist for one more genetic test that we received a positive diagnosis for a mutation on her KCNQ2 gene. Although we now had a name for her condition, doctors could not tell us anything new about her future and we felt once again alone on this journey, until we came across Jack’s Army and the work of Doctor Cooper. Suddenly our family began to grow to include so many amazing children and their parents. Today at the age of five Gillian is an active and happy girl with a slightly mischievous side who enjoys listening to music, dancing, running and playing. Although she cannot speak she lets us know everyday how much she loves us. We are constantly amazed by our little girl and looking forward to her future.

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Oliver’s Story: an Update

Tags: KCNQ2, KCNQ2 Journeys, research No comments
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Warm thanks to Tanya and John for sending this update to their son Oliver’s story, which first appeared many moons ago on the original Jack’s Army website and which now resides in the KCNQ2.org Stories section. It is so helpful to be able to revisit the “vintage” stories, celebrate progress, and learn from challenges. Sharing stories is a powerful way the entire KCNQ2 community can lift one another up and enlighten researchers and clinicians about the daily realities of living with KCNQ2-related epilepsy.

Our sweet little Oliver is now four years old, two and a half years after diagnosis of KCNQ2 at the age of 17 months. On the whole, Oliver is non-verbal; however, he teaches us how to communicate with him on a daily basis, such as using his eyes and his hands when he wants something!

Physically he is doing an awesome job. He can run, jump, and climb. However, he does tend to walk on all fours, which is a typical autistic trait.

Currently he attends a special school with two to three other children in his class. He goes there one day per week.  He also attends a mainstream Kindy five days a fortnight. There he has his own special needs assistant looking after him. He certainly keeps her on her toes! The children have been taught about autism and his epilepsy. This was brought on by Oliver and his love for opening doors and gates. His way of communicating is taking your hand (any hand, even a complete stranger’s!) and leading you to where and what he wants. Because this was becoming an issue, we sent out letters to other parents in the school group (about 20 in all) about autism and KCNQ2. We have been given positive feedback. One person has even asked about more information, which is very exciting.

“Our KCNQ2 community is built on friendship, common goals, and empathy.” –TG and JG

Since Oliver’s diagnosis, things have been on the move. Sometimes up, sometimes down. On the seizure front, he has had 3 seizures in the past 3 years. Not bad, but one seizure is one too many. We were weaning his main AED [anti-epileptic drug] just recently. After two days of completely being off it, he had a seven-minute seizure. After advice from his neurologist, we restarted the medicine. That has been disappointing as we wanted to see what his personality and cognitive development would be affected without any.

Oliver at restaurant

He is also been receiving additional therapies such as speech and occupational therapy. They are slowly making inroads with his communication skills.

Oliver is also doing great with his personal care. A couple of years ago, the thought of having his hair washed was exhausting.  Now he loves the water and having his hair washed is a lot easier! At times he can help getting dressed. We need to help him a lot, but it is a step in the right direction.

I think parents need to listen to other parents about KCNQ2. Tell us your story. Every time I tell Oliver’s story to friends, doctors, etc, I feel as though I am educating them through our experiences. Unfortunately there isn’t a lot known about it in general medical circles. Education is all about experiences. For example, when Oliver was brought in to the emergency department after his last seizure, an emergency consultant asked what it was! Unfortunately, this is a reoccurring theme.

The other thing I would suggest is collaboration is the key. Talk to all of your child’s healthcare providers so they can collaborate the best that they can for your child.

RIKEE is a KCNQ2-specific patient registry that is powering international research on this condition. Join the effort! Register your child or patient in RIKEE.

The most important thing is to hug and love your child. Our KCNQ2 community is built on friendship, common goals, and empathy. We are the only ones in the world that exactly know what you are going through. Never be afraid to ask or share. We are here for our children and our community.

Read about John’s KCNQ2 Journey with BFNE published here in February.

Oliver’s original story

oliver_300x300Oliver was born in February 2012 through an elective caesarean section. On day two of life, while he was breast feeding, Oliver broke attachment and started staring and all four limbs were twitching. The next day, he had two tonic clonic seizures lasting about 45 secs each time. He was then transferred into the hospital’s special care nursery. There he had numerous tests including a lumbar puncture, MRI, ultrasounds and many blood tests. All of these tests came back normal. A week later, he was transferred to a larger hospital for extensive and specialised testing, including a few EEG’s.

Over the next couple of months he had numerous hospital admissions due to increase seizure activity and the inability of his medications to keep up with them. After his scheduled four-month vaccinations, he had his longest seizures to date. A seven-minute seizure at home, an eight-minute seizure at hospital, then had a 45-minute status and transferred to the Intensive Care Unit. It was after that enormous seizure that his neurologist decided to do genetic testing. After a couple of days, he was fine and sent home.

Over the next four to six months, his hospital admissions due to seizure activity were getting less. However, he was not putting on any weight, his appetite decreased, and it got to a stage where his output was getting less and less. His doctor decided to do some blood tests. His electrolytes were at a critical level and with consultation with a metabolic doctor, decided it was his current anti-epileptic drug was the root cause of this. We changed medications immediately.

In July 2013, we discovered that Oliver was diagnosed with the KCNQ2 gene mutation, the cause of his epilepsy. Through the internet, we have discovered many families that are affected by this and have been a tower of strength for all of us.

At 22 months of age, he had been seizure free for 10 months and is physically growing well. Developmentally he is quite behind children of a similar age. He started walking at 19 months of age. Still quite non-verbal, and it is like he is in his own little world. He has had a recent diagnosis of autism; fortunately, he is on the lower end of the spectrum. He receives regular physical therapies through occupational therapists, physiotherapists and speech pathologists. Because there isn’t much known about KCNQ2, the doctors are learning as we are learning. We continue to support his needs and whatever he requires. We take it day by day and try to live life as best we can.

Share your KCNQ2 journey here to help raise awareness of KCNQ2-related epilepsy.