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World Ohtahara Syndrome Awareness Day 2015

posted Nov 14, 2015, 8:48 PM by Aarons Ohtahara

One year ago, the families impacted by Ohtahara Syndrome came together and decided upon November 15 as World Ohtahara Syndrome Awareness Day. November 15 will always have a special place in our heart as we remember, honor, and celebrate the wonderful children and families that are impacted by Ohtahara Syndrome daily. This day is for so many, the parents, the siblings, family, friends, and most important our children - all of them! Ohtahara Syndrome is heterogeneous in nature, meaning that it can be caused by many circumstances whether it is a gene mutation, structural malformation, or to this day still unknown which many of the families fall into this category.

Five years ago, in 2010 when our family began Aaron's Ohtahara Foundation, there was still so much unknown, many genes known today that have been found to be associated with Ohtahara Syndrome were not five years ago (or if they were, not well publicized so families or medical teams would be aware). Today there are over 30 gene mutations associated with Ohtahara Syndrome (EIEE - Early Infantile Epileptic Encephalopathy). There are also brain malformations associated with Ohtahara Syndrome such as Hemimegalencephaly. The confusing part to some may be also realizing that these gene mutations are or can be associated with other rare forms of pediatric epilepsy such as LGS or Dravet Syndrome. Having one of these gene mutations also does not automatically mean an Ohtahara Syndrome diagnosis. Two characteristics of Ohtahara Syndrome, often used in diagnosis are the burst suppression pattern on the EEG and the early onset of seizure activity. Overall severity, seizure type, and related conditions vary among the children. The Ohtahara family has been blessed with research opportunities which we are forever grateful for. Dr. Poduri and her amazing team have been working on whole exome sequencing with over 20 families participating and some finding a genetic cause through their work. Not only have they been hard at work with research, the team has also cared for and treated children with Ohtahara Syndrome. They have also participated in our Ohtahara Conferences and Family Gatherings. We even hosted one in beautiful Boston! I know the best part for them is meeting the families and children!


We would like everyone reading this post to remember all of our children, the families, siblings, and friends as so many are touched by the lives of our children. Please include them all in your prayers as well as the research, medical team, and those that care for the children such as therapists and teachers. There are so many!!

Thank you to all who have shown us so much support and love over the last year and since the beginning! We are so thankful for you all and can not express enough how much your kind words and support mean to us. Aaron is a delight in our lives, him and Conor are our pride and joy! We have been so blessed to meet so many families and children (have I mentioned they are beautiful!) through the conferences or on our travels. We have cried along with so many, attended memorial services, and remember these children daily. We also rejoice with each milestone (or inchstone) and sometimes quite literally jump for joy when these children continue to amaze and tell their own story!! I have so many favorite things about these children and what they have taught me. Thank you all again for the love and support - it is for these children that we honor and celebrate November 15 as World Ohtahara Syndrome Awareness Day #WorldOSDay  and we can not forget...
"We Are Not Without Hope!!"

Riding for Rare - A success!

posted Jun 14, 2015, 9:13 PM by Aarons Ohtahara


Dan set out on the Bike Ride Across Nebraska (BRAN) last week. We came up with the idea #RidingforRare and decided to go with it (or ride with it). Dan has been biking for awhile and this is his second state to ride across; with just two states he has put in almost 1,000 miles.


We missed him while he was riding but he did a great job and the boys and I are so proud of him! We were so excited to pick him up at the final town. All week the boys were so excited to talk to their Papa, find out what city he was in, and how he was doing. Of course the question of if he saw any trains came up daily too! The answer was yes and we even saw video and pictures!

Aaron was so excited for #RidingforRare that he joined in on the fun and rode his tricycle around our driveway. He has improved so much with pedaling; we are very excited for him. This is one of the favorite activities in physical therapy.


Dan shared Aaron’s story with many people he spoke with at BRAN. I love how proud he is of both boys and shares each of their accomplishments! We had the chance to meet a few of his fellow bike riders and they were so excited to meet the boys. Even after an exhausting week of riding over 400 miles, everyone was happy and loved meeting Aaron in person, complimenting him on how well he is doing. I’m pretty sure he loved the attention :)

 

Your Neurologist is Retiring?

posted Feb 15, 2015, 8:51 PM by Aarons Ohtahara

When your neurologist retires...

One of Aaron's neurologists is retiring this year. I thought we had a few more years, maybe five more, but alas that is not the case. This particular neurologist has been such a gift to us and has worked tirelessly with Aaron from before surgery to our last appointment with him. We are so grateful that he was referred to us as his drive, confidence, and care not only helped Aaron but supported us as well. I'm sure many have gone through this, a doctor retiring or perhaps just switching doctors, what do you do or what did you do? We are sharing what we did in the hopes it will help others going through the same changes.

We made a final appointment with our neurologist. This appointment was really for many reasons; final advice, plan of action, meet the new doctor if possible, and to thank him for his care and expertise. We are very happy with the care Aaron has received and his continued treatment plan is guided specifically for Aaron. We wanted to have a plan for the next few years outside of any other factors on what we should continue, add, or change if anything. This is just as much for us as it is for the new doctor. We want to make sure the new doctor and our other neurologist (also wonderful) are all on the same plan. My advice would be to ask about any recommendations or if care has transferred ask about the new doctor especially if your next appointment with him will not be for awhile.

We asked several questions. Aaron is our little mystery and our neurologist is one that knows him well. We felt this was our last face to face opportunity to get some questions answered and to share updates and changes. Along with getting advice for care, we also asked about medication, therapy options, surgery questions, and much more. We even did a short review of Aaron's surgical history and saw again exactly what areas of his brain were removed/disconnected during surgery. We learned a lot of new information too.

Unfortunately we did not meet the new neurologist, but if that is possible, it might be nice to just say hello and let the doctor meet your child as face to face is usually a lot better than any chart or medical record could give. I'm sure there are so many more things we could have done and more questions we could have asked, but we feel confident moving forward, partly because we have had such great care for Aaron. We also love his other neurologist and know we are in good hands with him as well, so we have not been left starting completely fresh.

Ohtahara Syndrome and rare epilepsy overall is not easy and it can be difficult to find the right care, treatment, and medical team. I know several families have gone through changes within their doctors for one reason or another. I think it is important to be confident in the care your child is receiving, even if they don't have all the answers (because they won't). There really is just no text book response for Ohtahara Syndrome as the children are all different and can react differently to treatment, but that does not mean that the team should not try. In fact as Aaron's team has shown us, keep trying and searching for answers - we still don't have them all and that is okay, but we are trying and pushing for treatment and care deserving of any child, no matter the diagnosis.



Rare Disease Day - Get Involved!

posted Jan 25, 2015, 10:08 PM by Aarons Ohtahara

Rare Disease Day is fast approaching on February 28, 2015. For some this is just another day but for the rare disease community, it is a day to bring more awareness to the rare disease that has effected our lives and all rare diseases. Here are few quick facts to fill you in on rare diseases:

  • There are about 7,000 rare diseases
  • In the United States to be a rare, the disease must affect fewer than 200,000 patients. This varies throughout the world.
  • About 50% of the people affected by rare diseases are children

Thank you Global Genes for sharing some RARE facts!

How can you get involved? It is easy! 


  1. Share about your rare disease or the rare disease that has impacted your life or the life of someone you know. For us this is easy, we will be sharing about Ohtahara Syndrome (and other rare pediatric epilepsy). Use your favorite social media site and get the word out about rare disease. You can also send an email, write a letter, or share some pictures.
  2. Wear jeans! Global Genes started their popular campaign of Wear that you Care. Wear a pair of your favorite jeans in support of rare disease day. This is so simple, just pick a pair of jeans and put them on! Start an event in your office by sharing materials on rare disease day and getting approval if necessary for co workers to wear jeans during the week of Rare Disease day.
  3. Attend a local event, or if one is not available - start one! We are proudly attending the Rare Disease Symposium for the fourth year in a row. We are excited to hear new speakers and meet other families and medical professionals within the rare disease community.
  4. Be kind! Do something nice for someone on Rare Disease day

We are celebrating the beautiful and rare children that are in our lives. The impact of a rare disease goes beyond one patient, one awareness day; please reach out and share about rare diseases. We can help be the voice for the rare community!



Global Genes Rare Disease Tool Kits

posted Jan 25, 2015, 9:07 PM by Aarons Ohtahara


Aaron's Ohtahara is a Global Genes RARE Foundation Alliance Member and we are proud to help support this organization to bring together a voice for the rare disease community. One thing that Global Genes has put together for the rare disease community is a Rare Disease Tool Kit. These tool kits are available for use and open to the community. They offer resources into rare diseases, ranging from genetic testing and parenting to fundraising and advocating for your cause.

We are excited about these tool kits and hope to help contribute to the many resources available!

Houston Epilepsy Conference: Catastrophic Epilepsy

posted May 4, 2014, 2:05 AM by Aarons Ohtahara   [ updated May 5, 2014, 12:38 PM ]

"There is no way in hell, you can live well with Epilepsy" - Dr. Nico

I attended the Houston Epilepsy Conference: When it is Catastrophic Epilepsy; and left hopeful and renewed in spirit.  Not only did I meet medical professionals in the top of their field of neurology, science, and research; but I also met up with wonderful families, all of us having a child diagnosed with Ohtahara Syndrome.  Our group, "Ohtahara Mamas" as I call us (and let's not forget one Ohtahara Papa) joined together over the conference to learn more about current research efforts, medications, and new therapies available or being researched for catastrophic epilepsy.  We asked questions, took notes, and bonded as only parents who have a similar situation can.  I feel truly blessed to have met these families, especially the children.  I am always honored to meet a child who has Ohtahara Syndrome.  I can not express enough how much I believe these children are miracles, beautiful, and wonderful teachers.  They hold the importance of life in one smile, look, or head leaned against your shoulder.  In Houston, I'm honored to say that I played catch with a miracle, was welcomed by wonderful families, and again was reminded how beautiful life can be, if only we all look past what we think is a disability and see what abilities one has. 

This conference renewed my spirit and also gave me a chance to focus on Ohtahara Syndrome, Aaron's Ohtahara Foundation, and our future goals.  I am happy to say we are working on future funding for research projects and because of this conference we were able to meet face to face with researchers that are focused on Ohtahara Syndrome and the genes associated with it.  I am truly grateful to these professionals and pray their work will show great advances within Ohtahara Syndrome diagnosis, treatment, and care. 

"Better treatments are desperately needed for these syndromes" - Dr. Brooks-Kayal

Notes combined and shared here in the PDF file below.  This conference gave us so much information, we hope we were able to gather the key information and present it in a way to easily understand

| Attachments: Houston Epilepsy conference notes 1.docx

Sensory Idea.. Easter Egg Fun!

posted Apr 4, 2014, 11:59 AM by Aarons Ohtahara

Since Aaron is blogging so much, I thought I better catch up! I'm going to share a very easy, kind of messy, but really cool and fun sensory idea. Coloring Easter eggs is a lot of fun; I have always loved it and we do it every year with the boys.  Last year I remember the amazed look on their faces when we colored eggs.  This year they had even more fun!  This is a very simple and fun way to color eggs using shaving cream and food coloring.  (NOTE: it does get a bit messy and the food coloring will stain hands- it comes off pretty easy though).

The boys had such a great time; although we used spoons they both could not help grabbing a glob of shaving cream and playing! 

What you need:
  • Hard boiled eggs
  • shaving cream
  • liquid food coloring (reds and blues worked better for us, but you can use any colors)
  • Glass bowls (you can use metal but glass makes for easier clean up)
  • Spoons

Steps:   Hard boil the eggs!!

    1.  Put shaving cream (not shaving gel) in a bowl or a few bowls depending on how much you want to do

    2. Put a few drops of food coloring in the bowl or pan


    3. Take a bamboo stick/skewer or straw (I used a straw) to swirl the color in the bowl
    4. Take your cooled off hard boiled eggs and using a spoon roll them around in the bowls.  You can use your hands, but this is where it gets more messy, but more sensory too, so you take your pick! :) 

    5. After the egg has been in the bowl of shaving cream, take it out and place it on a paper towel, plate, cardboard, etc. 

    6. Once you are finished coloring all the eggs, take a paper towel and wipe the shaving cream from the eggs

    7. Most of the coloring should stay on the eggs

    8. Marvel at the awesomeness that you created!!

    9. Refrigerate eggs, covered.  Eggs may last about a week in the fridge. 

This was such a fun idea, I saw the idea to use shaving cream online and decided to try it out.  We are not finished yet, we are going to do the old fashioned route of coloring eggs too! Enjoy!!

HAPPY EASTER!

Purple Day Countdown Infographic...

posted Mar 24, 2014, 12:41 PM by Aarons Ohtahara

Purple Day is fast approaching; Are you ready?? 


Just in case you need a quick reminder of how much time you have left, we created a little timer to help mark the countdown.  Have fun spreading awareness of Epilepsy (and Ohtahara Syndrome!)  Purple Day is Wed, March 26, 2014.  We are gearing up for the day, finding purple, and making sure we have ribbons! Here is the link for the infographic...
https://infogr.am/epilepsy-awareness-day-purple-day-the-final-countdown?src=web

Ohtahara Syndrome Infographic... Genetic Mutations

posted Mar 4, 2014, 12:03 PM by Aarons Ohtahara

Here is the link for a rare glimpse into Ohtahara Syndrome.  It shows the genetic mutations that are associated with Ohtahara Syndrome. 

https://infogr.am/ohtahara-syndromeeiee?src=web

These genetic mutations(associated with EIEE) include:

ST3GAL3 (EIEE15)

SCN2A (EIEE11)

SCN1A (EIEE6)

STXBP1 (EIEE4)

SPTAN1 (EIEE5)

SLC25A22 (EIEE3)

SCN8A (EIEE13)

TBC1D24 (EIEE16)

PNKP (EIEE10)

PLCB1 (EIEE12)

KCNQ2 (EIEE7)

CDKL5 (EIEE2)

ARX (EIEE1)

ARHGEF9 (EIEE8)

PCDH19 (EIEE9)

CHECK OUT THE LINK FOR THE FULL VIEW AND PHOTO!! 

Ohtahara Syndrome, rare glimpse into who is affected

posted Feb 20, 2014, 1:12 PM by Aarons Ohtahara

Check out the link and photo for a glimpse at where in the world is Ohtahara Syndrome!  This is a quick infographic for a visual look at maps and graphs of how many that we know of are affected by OS.  This is based on information from the database and to those who contact our organization.  Korin has helped immensely by updating the database on a regular basis. Thank you Korin! 

https://infogr.am/a-rare-glimpse-ohtahara-syndrome?src=web 

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