Surrounded By Greatness

I have never really been star struck. I can have a conversation with a CEO or a governor and I won't get nervous. I remember being nervous the first time I met Dr. Dravet. She just represents so much emotion in my life. This year was much better ;)I love that this conference not only gives you the opportunity to connect with other families, but with incredible doctors; who could end up helping you in the future.
The consultations are incredible and you have the chance to have one on one time with the best doctors in the world...without having to pay a dime! I try to tell everyone that you are entitled to a second opinion, and a third and a fourth. You are the best advocate for your child and should totally trust your doctor and treatment plan.I had the opportunity to once again share meals with these people and get to know them outside of their offices. It was something that really impressed me at the first conference.
We had the opportunity to hear from doctors around the world with the magic of the internet. There were presentations from Italy and Australia, even though the doctors were not physically present. We can give each other feedback and spur ideas for new research and treatments. It also gives us the opportunity to laugh. I made Dr Miller laugh more than once with a recount of our summer. See, even he thinks we are never boring ;)

IRL

Welcome to the first in a series of VERY picture heavy posts.It is always great to meet with my Dravet friends "In Real Life". Some have been friends for years, others this is our first interaction.
All are special. These are some of the people who can read me like a book.
Some of the people who cheer/roar for us when we accomplish even minor things.
Or understand my twisted sense of humor, because most of them have the exact same dose of sarcasm.Some come from far away places-We had people from Australia, Austria, Ireland, Israel, Mexico, Cyprus, England, Africa, a crazy big group from Canada and other countries represented this year!
Some are from your backyard. Some are so sweet that you want to pack them up and take them home with you.
The children especially leave huge marks on your heart. I love these two.
Some have an alarming amount in common with you.
But with all of them...you feel a whole lot of love. This is my favorite part of the conference. Making connections. The internet is awesome, but I will always prefer to "friend" someone IRL.

DSD4

Home from the Dravet Syndrome Spectrum Disorders 4 Biennial Conference! I have been working for months and months to prepare for this and I was so busy the entire time. I am so glad that we got the opportunity to participate in something that we are passionate about.

When I was deciding what to pack, I had to conclude that I have a severe addiction to stripes. It might be hereditary.I spent a lot of time putting together these bags for the families and doctors. Special shout out to my amazing committee!I even had Dr Dravet herself sign my book! Can you believe that she didn't have a copy? I was pleased to be the person to present her with a copy of her own book. It was amazing that we were able to give these to every family.
She is not a fan of getting her picture taken. I got a better photo later on in the week. So much happened! We saw old friends, made new ones and learned a lot. I will need to break it all up or the post will be a mile long!

Exciting Research

This announcement just came out:

One of the distinguished speakers at DSD4 is Jing-Qyong Kang, MD, PhD, of the Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Dr. Kang was awarded the 2010 Dravet Spectrum Disorders Research Award. Dr, Kang's main research goal is to try to understand the molecular basis of Dravet Spectrum Disorders that are associated with GABAA receptor gene mutations, in order to identify possible therapeutic targets.

Dr. Kang explains her pioneering research: "As we know, mutations in GABAA receptor and SCN1A genes are frequently associated with epilepsy ranging from simple febrile seizures which remit as patients age to severe epilepsy with mental compromise like Dravet syndrome. In general, most Dravet syndrome patients are associated with mutations in SCN1A. There are a few pedigrees of Dravet syndrome are associated with mutation in GABRG2. Animal models have demonstrated that SCN1A mutations impair GABAergic interneuron activity. Thus understanding GABR mutations may shed light on understanding the underpinning mechanisms of both groups of genes.

"In the last two years, with the help of the funding support from Dravet organizations, we have characterized a number of GABRG2 truncation mutations associated with epilepsy/Dravet syndrome. We have demonstrated that all these truncation mutations resulted in the loss of function of the mutant alleles. These mutant GABRG2 subunits may have different protein stability and are degraded inside cells at different rates. Consequently, the different GABRG2 truncation mutant subunits had different dominant negative suppression on the biogenesis and trafficking of the wild type partnering GABAA receptor subunits. "

The different truncated mutant GABRG2 subunits have disturbed the cellular homeostasis which may lead to neuronal dysfunction at different levels.

"We hope our work could help pave the way for identifying a novel therapeutic target other than the conventional anti-epileptic drugs which may eventually lead to a cure for at least a subgroup of epilepsy/Dravet syndrome patients. I am extremely grateful to Dravet organization for supporting my research." 

Meet Dr. Kang and other Dravet experts at DSD4.
Requests for small group patient/family consultations with faculty physicians are available on a first-come, first-served basis.
Space is limited, so register today for:
 The 4th Biennial Professional and Family Conference for Dravet Spectrum Disorders
August 16-19, 2012
Minneapolis, MN
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Also, this article gets me excited and features our own beloved Dr Miller

Magical Memories

Due to some really hard work, and generosity of others, I was able to sneak away for a few days and get together with some fellow Dravet moms. The paramedics actually made their first house call to our new home while I was away. Another reminder that leaving just can't happen very often.We had a lovely time, with lots of food, laughter and fun. There were some tears involved too. I can not explain the immediate bond you have with another Dravet parent. Our numbers are so small, we immediately understand each other. I got to work on a new pamphlet that I have been a part of for newly diagnosed patients families, talked about my role on the a4cswn committee and realized once again that I can be a resource for others, after having 30+ years of experience with epilepsy. Some one called me wise. What? I'm not wise, but I am totally willing to share whatever information I have. I'm so grateful that these women were willing to share their weekend with me. What a magical place with incredible memories.

Strength

The last few days have been heavy. I feel like I have been cramming for final exams, even though there was not a test. Trying to fit every piece of information into your already overloaded brain. Words like missense, truncation, channelopathy and dysautonomia coming through in your dreams.

We learned a lot at the IDEA League conference. Even though we listened to lectures and I had a sense of de-ja-vu about being back at medical conferences, like I was working again, we came out with more than information. We came out with friends. Some of these people will be our life long friends and even though we don't live in the same state, town, or even country; we will share in the joys and triumphs and also the trials and sorrows it comes from raising a child with Dravet Syndrome. Here is a picture of the group who are lucky, we all got diagnoses fairly early. Kids in this group range from 10 months to three years old.It was liberating to have multiple people who understood our version of "normal". To swap horror stories and laughter felt great. We have not been social for a while, for obvious reasons, and we are both social people. It was kind of an out-of-body experience to witness multiple seizures and everyone knew what they were doing. One child at the conference accidently pulled the fire alarm and we all started to worry about the same things. The noise, the flashing lights, we will have to go outside-get the glasses and hat, bring the cooling vest. It was almost comical. At least we can laugh at ourselves.

I think the main thing that I will bring home from the conference is strength. Strength to keep fighting. Strength from good people supporting each other when you feel like you are so alone. Strength to know that I have resources now. I am exhausted, kind of similar to after finals week, glad that it's over...but realizing that the knowledge you gained will probably help you someday.Cole had a blast with his grandparents. He had an incredible week, with no major seizures! When we walked in the door this afternoon, saw his smiling face and heard his laugh, we felt strengthened to fight for him-because he deserves it...just like every kid out there with Dravet and other rare disorders.

In the words of my lovely friend Vanessa from Australia..."You are my friend. I love you. You can come to my house anytime...and I will make you a milkshake". Each of you is welcome into our world, virtual or physical-and I can make a mean milkshake. Strawberry is Vanessa's favorite. Find the strength to fight for her.

Family Links

I am so glad that Brian and I got to attend the Family Links conference! It is a conference for families, caregivers and professionals who work with or have someone that they care about who has a disability. Lisa, who has her own set of challenges, has been my friend since high school. She told me that we really needed to go this year. She and her husband were planning on attending with us, but as things happen when you have a kid with special needs, something came up and they were not able to make it. It is put on by the Utah Parent Center every year. Their link is on my sidebar.

The speakers were great. The food was AWESOME. The price was amazing, and they have scholarships for people that can't even afford to pay the menial cost. It was a real "cup filler" for us. Sometimes it is really hard to accept that two out of three people in our family have a disability. Cole and I look and act normal the majority of the time. It is a hard concept to wrap your head around when everything looks just fine. Sometimes people close to us even have a hard time saying, "disability, epilepsy, syndrome, disorder" and other hard words. We just have seizures...period. The opposite is true because those seizures affect our life to the point that it is a disability.

I am very high functioning at this point in my life. Cole not so much. I heard something really powerful at the conference. Someone said that disability is something that everyone has to go through. We're all going to die. Most of us will age. Sometimes we break things, have surgery, become ill and can't do everything for ourselves. It is something that everyone will have to experience, just not at the level of people who have an actual diagnosis.

We learned a lot about keeping our relationships intact, which is something that is so hard to do when you have this problem (Epilepsy, Down Syndrome, whatever) in the forefront of your mind. Friendships, spouse, and familial relationships suffer. We even got a free book from the keynote speaker because we registered early. Yeah for free stuff! We also learned about some great programs in our state that we never would have had a chance to otherwise. We talked about legislation for the future and the reality that programs like DSPD are so under-funded that the only way things are going to get better is if the parents start kicking and screaming.

We learned a lot about parenting and were able to mingle with others that 'get it'. The snow cones, Cafe Rio, Maggie Moos and other stuff didn't hurt :) I am so glad that even though we had to round up three baby-sitters and move our other schedules around...we went. Both of my sisters that live out-of-state are here right now, so it was hard to not spend time with them. It was important for Brian and I to take a 'time out' so to speak and we really talked a lot about the next couple of months and how we are going to try and prepare for the struggle that lays ahead.

We unfortunately came home to reality. Cole had a visit from his friends the paramedics less than an hour after we returned home. We didn't have to go to the hospital, but he's still not doing so well today. I'm just glad it happened after we got home. Who knows where we will be living next year, but I loved the conference so much that I might just come back for it.