Rare Disease Day 2014

Rare Disease Day February 28, 2014

Here is a link for the US: http://rarediseaseday.us/

This event takes place on a global, national and local level. If there is nothing in your state take action now and tell your representatives that rare diseases are important to you. - See more at: http://rarediseaseday.us/#sthash.ivYDsApq.dpuf

There are national activities to participate in like Handprints Across America. 

Find a way to participate that is right for you, view suggested activities on website for:

• individuals
• organizations
• industry
• medical institutions and academic centers
• schools

- See more at: http://rarediseaseday.us/#sthash.OuwM9mbA.dpuf

Local for myself is Salt Lake City, Utah. This year is the first year that SLC will be participating in Rare Disease Day. If your state is not yet participating contact your representatives!

Rare Disease Day US in Salt Lake City on 2/28/14, Utah State Capitol, Hall of Governors, 3-5 pm

American MedChem Nonprofit Corporation (AMC) (http://americanmedchem.org; Twitter: @americanmedchem) joins the National Organization for Rare Disorders (NORD), http://rarediseaseday.us/; Twitter: @rarediseases ) to observe Rare Diseases Day US in Salt Lake City.

When: February 28, 2014, from 3:00 - 5:00 pm

Where: The Utah State Capitol, Hall of Governors

Short talks are planned at the same venue from 4:00 – 5:00 pm.  

This is the first time that Rare Disease Day US is being officially observed in SLC. Governor Herbert has proclaimed 2/28/14 as Rare Disease Day in Utah.

Speakers (subject to change):

Steve Mikita, JD

Utah Assistant Attorney General

Robert Selliah, PhD

Founder/President of AMC

Joe Cramer, MD

Pediatrician

Intermountain Primary Children’s Hospital

Mike Spigarelli, MD, PhD

Professor of Pediatrics, Internal Medicine and Pharmacy

University of Utah Health Sciences

All are invited to attend and show support to our local community of patients and families afflicted with rare diseases.  Also, lend your help to make this event be a success by sharing this information (email, social media, word-of-mouth, etc) with your friends and families and with patients with rare diseases. AMC and NORD will have a table of exhibits and information to raise awareness about rare diseases.

Robert Selliah, Ph.D.,

Founder, President & CEO

American MedChem Nonprofit Corporation

Salt Lake City, UT, USA

robert@americanmedchem.org 

http://americanmedchem.org

Twitter: @americanmedchem

DISCOVERING NEW MEDICINES TO TREAT KIDS

2q23.1 World Awareness Day is today!!

This is a very important event for Asia and all of the others affected with this syndrome. Awareness equals research! Here is how to show support:

Find the Face Book events page; https://www.facebook.com/events/600818539982916/ and join, then wear something blue and post your pictures on the events page. Visit website link: http://2q23.org/

We are hoping for 1000 pics today! 

You can also show support and post your pics on; 
Twitter https://twitter.com/2q231 @2q231
Instagram  http://instagram.com/2q231 @2q23.1
Pinterest http://www.pinterest.com/2q231/ 

*Make sure you use the hash tag #2qworldawarenessday and tag @2q231

Thank you for all of your support!

Wearing Blue for silly Asia! Happy 2q Awareness Day!

Now is the time to help! HB105

*We have see a lot of support today-thank you!! We can slow down on the emails and contacting your local representative would be the next step-thank you again!!*

In Utah, the Cannabis Extract bill will go to vote soon. Now is the time to help!

HB105 Plant Extracts Amendment
Write to your local representatives!

Link to the bill: http://le.utah.gov/~2014/bills/static/HB0105.html

7      LONG TITLE
8 General Description:
9 This bill amends provisions of the Controlled Substances Act and the Utah Health Code
10 related to hemp extract.
11 Highlighted Provisions:
12 This bill:
13 < exempts an individual who uses or possesses hemp extract, and complies with other
14 requirements, from the penalties related to possession or use of the hemp extract
15 under the Controlled Substances Act;
16 < exempts an individual who possesses hemp extract and administers the hemp
17 extract to a minor from the penalties related to administering the hemp extract to a
18 minor under the Controlled Substances Act;
19 < requires the Department of Health to issue a hemp extract registration card to an
20 individual who meets certain requirements; and
21 < makes technical and conforming amendments

The bill would support anyone, any age, that wanted this extract. It would help to read many/all of the family stories on this website but, there are so many more that could benefit. Here is a copy of what I wrote for Asia and reasons why we want to try Cannabis Extract.   link here: http://hope4childrenwithepilepsy.com/

• Asia

  
  

  
  
  
  
  
  
  
  
  
  
  
  
  
  
  

  
  
  

  
  

When my daughter (Asia) was two years old, we could see that she was developmentally delayed. She never crawled as a baby, was a late “walker”, and had delays with her fine and gross motor skills. Speech was slow but she did have a few words like “hat”, and would wave and say “hi” to everyone. We were already preparing for speech and physical therapies as well as early intervention preschool. We were told that she may have some hearing loss and we were prepared to start using hearing aids and possibly another form of communication like sign language. With all of this, nothing prepared us for the battle of epilepsy.

I remember it like yesterday, my nanny calling me at work in the afternoon saying “Asia is throwing up blood; I don’t know what’s wrong!” Taking her to the ER and them telling me they could not find anything wrong with her. We did not know what was wrong until the following night. We had Asia sleeping next to us because she never looked well after that ER visit. That is when we experienced our first Grand-mal seizure. Nothing can prepare you for this. We realized that night- that the day before she had experienced another Grand-mal and had bitten her tongue, which bled very badly and caused her to throw up. It still breaks my heart today knowing she experienced this without me there to comfort her. Shortly after she started receiving prescription medication for seizures.

Medication stopped the Grand-mal seizures but she then continued having many other types. Next were the Atonic or drop seizures. She could collapse at any given moment, hitting her face on furniture or the floor. If you study Asia’s face you can see the scars that these seizures have left on her eyebrow, bridge of her nose, her chin where she has bitten through her lip. These unpredictable and terrible seizures gave us another type of medication. She continued with many other types of seizures: Simple Motor, Tonic, Clonic, Atonic, Myoclonic and Absence. A stay in the hospital with non-stop seizing for a entire week-where she stopped eating and drinking got us yet another type of medication. I remember being shocked at the size of the vile filled with medicine that was being put into her tiny body. Wondering what types of side effects she may have and what could it be doing to prevent her brain and body from developing properly? We have tried many other therapies including diets, vitamins, and holistic therapies. With all of this medication and the many changes in dosage-Asia’s seizures have not stopped. She continues to have them, mostly Absence right now.

I remembered teaching Asia the word “purple”. It was a stay in the hospital for a sleep study and her bandages were purple. She could repeat it several times. I have not heard her say that word in years. In fact, she only has a handful of words and is mostly non-verbal. She has lost language learned and skills that she had acquired when she was very little. She seems to be functioning at the same age level as my 18 month old. Asia has a rare chromosome disorder called 2q23.1 microdeletion syndrome. This diagnoses we received last winter. With this diagnoses we know from research that she may have developmental delays along with a whole list of symptoms. I do know however, when comparing Asia to some of these other children with 2q23.1-many of them have skills Asia does not have like speech. So where do Asia’s lack of skills come from? Is it from her disorder? Is it caused by seizures that may keep her from retaining information or is it side effects from prescription medications?

At the end of it all, I want to say I did the best I could do. I want to give Asia the best life I can give her. When your child is having a seizure you feel so helpless, there is nothing that can be done to help them. I want to help in any way I can. I want the chance to give Asia a supplement that may stop her seizures and may have virtually no side effects. If I could eliminate these two obstacles-seizures and prescriptions, I could focus only on how to best help her with her syndrome. Maybe she would be “teachable” again. Please allow us access to cannabis extract. The cannabis derived supplement that could stop Asia’s seizures along with countless others.

• Here is how you can help: Email or hand write letters to your senators and local representatives. Show your support on social media outlets. Copy avatar above and get other's familiar with HB105 bill. Please show your support this week. Click here for guidelines on your letters, info on the bill, and to see who your local representative is.  More info:  http://hope4childrenwithepilepsy.com/how-to-help/
• 
  
  
• My cute niece sent this one in support for Asia-we LOVE it! Thank you for all of your support!!
• 
  

Not a Zombie Anymore.

I guess I would rather have a "screamer" then a zombie......

This is mostly just a venting post because it has been a rough few days. Asia is doing really well but, she SCREAMS all of the time. It may be out of joy, anger, or just trying to communicate but, I am at the end of my rope. It is even making me cry a little here and there. It gets that unbearable. I have to remind myself that this is better then her being a "zombie". I think she is adjusting from the medication change. I have currently taken away 3 of her 5 daily topamax pills. She is also so much more aware, even her bus driver has commented how well she is doing. She is trying to talk more and I think her "awareness" is also causing more frustration. She's so much more vocal.

I am happy to report that her appetite is improving. She is even out eating her siblings right now which couldn't make us happier. One of the side effects of topamax is loss of appetite and taking her off may be helping this. It would be nice if she could gain a little weight-I think it would help her overall health as well.

On another note she has become really obsessive. She refuses to share anything and gets extremely mad at the strangest things. This isn't just for food but for example, if she has a little bag of snacks no one else can have one too, she thinks she has claim to it all. She even gets mad at dinnertime when everyone is eating the same thing-she doesn't think this is ok and tries to take every one's plates. If there are two iPads out, she has to have both of them etc. etc. Hopefully this will stop:)

I had two meeting for Asia this week. First one was for the DSPD (Department of Services for People with Disabilities). After months of trying to complete the paperwork for them I finally got it all turned in and had our interview. I hate these kinds of things because I realize how little Asia can do on her own right now and it makes me worry about the future a little. Makes me questions things like "what if something happened to me and my husband? Who would care for Asia?" etc. a little overwhelming. In the interview I had to answer pages of questions about Asia's abilities and there was very few I could say "yes, she can do that". I have to point out though, that the questionnaire isn't specific for age and some of the questions I personally can not do myself, like sewing and do I balance my checkbook every month etc.-ummm no:) I pray that we will always be able to care for her and that she will grow and progress so much more over the years. If you don't know what DSPD is, it has a lot of benefits for people with disabilities. The waiting list is huge and I have heard of people being on it for 20 years! That is why I started the process now. It may provide some services for her now if she qualifies but, it will help her when she is older and if she is able to take a job, live out of the house, attend social activities -- they will help her do this. Great program and here is the link if you want to learn more   http://www.hsdspd.utah.gov/

Other meeting I had was a parent-teacher conference at school. Going over some of the things Asia is working on, goals etc. Again, another meeting that points out how much she can not do but, there were some good things. They have noticed as well that her eating habits have been better and that she is trying really hard to express herself vocally. The teacher told me that she called a classmate by name two times in one day and that is so exciting. We will get little insights like this from her and it really makes us wonder what else she knows that she can not communicate. They are also getting a little bit of the screaming but it doesn't sound like it is as much as it is at home....she is doing very well at carrying her lunch tray (empty) and deciding what she wants to eat at lunch. With physical prompts they are getting her to raise her hand when it's her turn. They have to use physical prompts to get her to make a decision when working on pictures. They are also giving her a lot of options for making her own "choices" when it comes to activities. I can see the results from this coming through at home when I ask her to make a decision. I can tell she thinks about it first which is soooo great!

Several times in the last couple of weeks she has been waking up in these hysterical laughing fits. She almost seems to be "asleep" but now I worry that they are laughing seizures. We will have to keep an eye out on this. Just what we don't want, another type of seizure to show itself!

2q23.1 Microdeletion/Duplication World Awareness Day!

February 23 is the World Awareness Day for 2q23.1 Microdeletion/Duplication Syndrome. There is a virtual event hosted on Face Book ~ just search 2q23.1 Microdeletion/Duplication Syndrome Awareness Day. The goal this year is to get 1000 pictures from around the world of our 2q friends wearing blue. More info below:

Link for FaceBook: https://www.facebook.com/events/600818539982916/

2q23.1 Microdeletion/Duplication Syndrome is an extremely rare genetic condition that affects approximately 200 men, women, and children worldwide. Cases have been reported in Argentina, Australia, Belgium, Belarus, Canada, China, France, Great Britain, Italy, New Zealand, Netherlands, Spain, and United States. Our goal is to reach out the newly diagnosed while raising awareness about 2q23.1 Microdeletion/Duplication Syndrome. You can help us raise awareness by wearing blue, wearing a t-shirt with our logo, using our logo in your profile picture in any social media outlets, taking your picture & posting it on our events page, making a video & posting it on our events page, hosting or attending an event in your local community to help raise awareness, and countless other ways.

Please note this is a virtual online event. Just like last year, please take a picture of yourself (and/or your family) in something Blue and post to the Events page. Just a way to show support for children with unique Genes like our kiddos.

You can post it anytime between now and the 23rd.
Our goal is 1000 pictures from all over the World.

Much Love and Thanks from the families of kiddos with 2q23.1 Microdeletion/Duplication Syndrome.

To raise awareness, please feel free to copy this logo and share on your 
Face Book profiles, timelines and posts! Any other social media 
outlets are great too-Instagram, twitter etc. 

Thank you!!!!