I am Niki, wife to an amazing man and mom to 2 kids--one human and one very special dog. I am a cardigan addict, love to cook and I have epilepsy. I was a medical social worker in my previous life, but now I have the cutest boss ever, my son Cole. He keeps me busy! Cole has Severe Myoclonic Epilepsy of Infancy (SMEI) or Dravet Syndrome. Dravet (draw-vay...it's French) is rare and only about 1,000 people in the world have been diagnosed with it, though I am certain that there are more out there who have not been properly diagnosed. Cole is one of the rarest of this group, since he has an inherited genetic mutation on his SCN1A gene, from yours truly. Only 5% of SCN1A mutations are inherited. Dravet is one of the worst forms of Intractable (very difficult to control and treat) Epilepsy. Despite his daily struggles, Cole is a happy kid who likes to swim, pretend that he is in a band and loves jumping off of furniture. He adores his service dog, Slugger and goes every where with him. He is ridiculously funny and is always making us laugh. He is my warrior boy. I write about our journey on www.epilepsywarriors.com
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Miggy: You have a unique situation (a spotlight first I believe) in that you and your son, Cole, both have epilepsy. Did you know your son would probably have this disease? How did your experience as a kid shape your perspective and fears when it came to your son having it as well?
Niki: This is going to be really hard to condense into the Reader's Digest version! First-I had no idea that I had a genetic form of epilepsy. No one on either side of my family has seizures and all of my tests come back 100% normal. Doctors eventually told me that it was a fluke and that maybe it was caused by birth trauma. I never worried about having children with epilepsy. I am a perfectly mainstream individual who got straight A's, has always been independent and never needed any kind of special assistance. I drive, I worked, I have 3 degrees, I was "normal"...whatever that is :) I had a difficult pregnancy, with some issues that all resolved before I delivered, but we had no idea that there was a problem with Cole. He had awesome APGAR scores and I was infatuated with him from the moment I saw him. He was absolutely perfect in my eyes and for the first 6 months he was meeting all of his milestones. Hindsight is 20/20 and I can see now that there were issues from the beginning, but I was a first time mom and had nothing to compare it to. You can imagine my horror when Cole had his first seizure at 6 months old. I knew exactly what was happening and in the forefront of my mind was, "I did this!" In short, it was a very long road to get his diagnosis and through many tests we have discovered that I have something called Generalized Epilepsy with Febrile Seizures Plus, or GEFS+, and Cole has Dravet Syndrome. Even though we both have an SCN1A mutation, our epilepsy is very different. My experiences growing up with something that no one really understood has definitely made me more empathetic, but has also caused me to grieve a lot. I never really knew I had a disability, but I did know what it was like to be different. Try explaining to your date why you passed out and peed your pants. :) Even though Cole and I look absolutely like anyone else on the street, we are very different. You would never know from initially meeting either one of us, that something was wrong. This has been a blessing and a curse. Over the years it has caused a lot of heartache to realize that even though I turned out to be extremely high functioning and independent, I know that Cole will not. However, doctors told my parents after my first seizure, which lasted 45 minutes, that I would either be, "Severely retarded or dead by morning". That obviously did not happen, so I spent my entire life consciously defying the odds. I know to never place limitations on Cole, because he will prove me wrong every single time. Even though he will need to live with me for his entire life, I know that he can do almost anything, just in his own special way.
Miggy: Tell us a little about your epilepsy, vs. your sons. Are you symptoms and the type of seizures similar? How do you handle this double-duty care?
Niki: Wow...even harder to condense. Like I mentioned above, our epilepsy is very different. At this time, I am seizure-free and have had stretches as long as 3 years where I have not had a seizure. There were periods where it really inhibited me, but at this time, I manage well. Mine always stop on their own, but Cole needs immediate medical assistance for his bigger seizures. Cole's longest stretch seizure-free was 5 months, before his diagnosis. At this time, he is having anywhere from 200-400 small seizures a day. With bigger ones that need medication to stop it about once a day. He has seven different seizure types, where I have only had three and in adulthood I only have one type: tonic-clonics. Cole is constantly seizing, getting ready to seize, or recovering from a seizure, so he has to have someone with him-always. Privacy is a thing of the past in our house. He had to wear a helmet for a while to protect him when he fell constantly. He has Diabetes Insipidus (has to do with your kidneys) and Reflux. He can not feel pain like other people and has literally ran around on a broken foot for two days. He has no awareness of safety. He has been on special diets. He also has dysautonomia and has a lot of issues related to this. He can not control his body temperature, so he needs a cooling vest or lots of layers if he goes outside. Even taking a bath can be enough of a trigger to cause him to seize. He also needs special prescription glasses with special FL-41 lenses in them since he is sensitive to light. He is triggered by noise, new experiences, patterns, weather, textures, the full moon and who knows what else. He gets overstimulated very easily and will have more seizures any time he is agitated. He has spent so much time in the hospital that he has actually said, "We're home!" when we pull in to the parking lot. The paramedics know us by name:) His longest seizure was over 3 hours. There was a time when we actually were homebound for an entire year and a half. We did not go anywhere but the hospital. Even just walking from the house to the car was enough to cause him to have a major seizure.
We ended up moving across the country to get him better care and even though it took us away from every thing we knew, it was the right decision. He has gotten a little better with the light issues, so we try to get out a little more now and maybe we are just getting braver as time goes on. Still, every time we walk out of the door we take a risk; we are armed with a lot of paraphernalia, including a nurse and Slugger, just to take care of him. Sometimes it is weird, little things that we totally can't avoid that get him, like the carpet at our church. So-Cole doesn't go to church. We have to figure stuff like that out through process of elimination and avoid those places. He goes to a special education pre-school after a long battle and I am so proud of him. He loves it and has really come far. We have worked long and hard to give him the best life possible. The most difficult thing about Dravet Syndrome is that it is constantly changing. He is always having new seizure types, new triggers, medications that were once working, stop working. Always something new to try to figure out. We have become great detectives, but sometimes we have absolutely no idea what is causing what. Handling double-duty can be difficult. Cole needs someone who knows him really well and is medically trained to be with him at all times. So, this makes going anywhere really difficult. We can't just call a baby-sitter. I have not slept in the same room as my husband for over 2 1/2 years now since he sometimes has seizures at night and needs someone with him. I know that if I am stressed, have not been sleeping well and have not been eating right, I am setting myself up for a seizure. Show me a special needs mom who doesn't meet all of that criteria! :) I just have to make a really conscious effort to not get burned out and try to take down time every day. Doesn't always happen though-hey, showering is overrated! I truly just try to cherish every day that I have him with me. Seriously, that was the short version! Good questions! :)
Miggy: What are the biggest worries you face for Cole?
Niki: Honestly, I wonder who is going to be able to take care of him. There is a high mortality rate for kids with Dravet, a lot of children die in their sleep, but there is not a lot of research out there since the population is so small. He could live until he is 13, he could live until he is 30. I have no idea. His care is so complex and life-consuming that I worry about who could handle it if something happened to me or my husband.
Miggy: Now for a lighter question, have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Niki: Stuff like this happens to us every day. We love to laugh and find humor in our life. A lot of the funny conversations lately revolve around Slugger. People act like we can't hear or see them while they talk about us or don't notice them taking pictures of him. I was orienting a new nurse the other day and had Cole's many medications laid out on the table. Cole picked up the Diastat (a rectal suppository), showed it to her and exclaimed, "This goes in my butt! I just laughed and said, "Yep! It does" and moved on with my orientation.
Miggy: How can people best approach or respond to Cole? Is there something you wish other people knew so as to avoid awkward or hurtful situations? Again, perhaps you have even better insight since you dealt with this as a kid as well.
Niki: I wish that people would take the time to get to know Cole. He is adorable and totally worth the time even though it can seem overwhelming! We, as a family, can be hard to understand since there are so many limitations on what we can/can not do with him. Don't be afraid to ask questions. I would much rather that you ask than come up with your own answers. It won't make me feel awkward. Not a lot of people understand epilepsy, heck-most doctors don't understand it! Don't be afraid to talk about it. It is a part of our life, but it doesn't define us. Also, if you see someone who is having a seizure, or trying to assist some body who is having one, ask if they need help. I know it looks scary, but sometimes they could really use your assistance.
Miggy: What is the biggest lesson you’ve learned since becoming a special
needs mom?
Niki: ALWAYS be flexible. Don't sweat the small stuff.
A huge thanks to Niki and a yee-haw for the spotlight being back! I have to say, this is another one of those spotlights where I feel like I've just had the glimpse inside the life of a supermom. As all-consuming as Cole's care is, I appreciate Niki's ability to laugh and find the joy in her life--because it is joyful. I think that's one trick to life with special needs kids and one trick to life in general. Thanks again Niki!
As always if you or anyone you know would like to be a part of the special needs spotlight series, please email me at thislittlemigg at gmail dot com. And if you've emailed me and haven't heard back, please be patient--I've still got a day job you know. :)
Have a great weekend.
I saw this on Miggy! Great interview.
ReplyDeleteloved reading it Niki!
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