Wednesday, March 5, 2014
Wednesday, February 26, 2014
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:
- 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.
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
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
Twitter: @americanmedchem
DISCOVERING NEW MEDICINES TO TREAT KIDS
Sunday, February 23, 2014
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!
Monday, February 10, 2014
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!
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!
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/
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!!
Friday, February 7, 2014
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!
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!
Monday, February 3, 2014
2q23.1 Microdeletion/Duplication World Awareness Day!
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.
Face Book profiles, timelines and posts! Any other social media
outlets are great too-Instagram, twitter etc.
Thank you!!!!
Sunday, January 26, 2014
LionHeart Innovations Indiegogo
I am sharing about this amazing new App that is launching on Indiegogo. What a help it would be for so many that have health concerns-show your support. Please check it out and there are links below.
We will be launching on Indiegogo
on Friday, January 24th
link for indiegogo: http://www.indiegogo.com/projects/the-pocket-physician#share
link for lionheart: http://prefundia.com/projects/view/medical-app/534/
We need your support!!!
Facts
· 1 in 3 adults have high blood pressure and only ½ have it under control.[1]
· 1 in 100 babies born each year have a congenital heart condition.[2]
· Over 500,000 people in the United States rely on feeding tubes for survival.[3]
· 116 million Americans regularly experience chronic pain, including the 36 million Americans who suffer from migraines.[4]
· 26 million Americans have diabetes, and 79 million Americans have prediabetes.[5]
· 1 in 26 Americans will suffer from epilepsy sometime during their lifetime.[6]
· 1 in 300 boys and 1 in 333 girls will be diagnosed with cancer before their 20th birthday.[7]
· 70% of the US population takes prescription medication
Imagine if life, even with medical needs, were simpler and more organized. It can be. Lionheart Innovations is proud to introduce the industry’s first all-in-one mobile, medical application, the Pocket Physician. Meant for caregivers, parents, and individual use, the Pocket Physician will allow users to track vital signs and medical events, take notes, store medical records, reference important literature, schedule appointments, calculate expenses and more.
The Pocket Physician was first conceptualized while CEO Tammy Bowers was caring for her son who was diagnosed at a birth with heart failure and a rare genetic condition. Between a heart transplant, feeding tubes, eight different specialists and multiple hospital stays, Tammy, like others who face these family challenges, was overwhelmed. Tammy and others who care for those with medical needs have few alternatives then keeping track of every heartbeat, sugar level, and appointment by hand. There had to be a better way.
“The vision for the Pocket Physician was not to replace doctors and medical providers, but rather to work with them to give them accurate and complete information," says CEO Tammy Bowers. Caregivers are already required to be specialists, and with this complete app they will be empowered to that end.
The Pocket Physician personal medical application is meant to help overwhelmed individuals, parents, and caregivers provide effective care by eliminating mistakes and saving valuable time.
A Mom, a son and a Lion heart
Three years ago our son Landen was born with a severe heart condition. We were shocked and devastated when doctors told us that he was not expected to live to his first birthday. Our little baby boy had a hard fight ahead of him. To symbolize the courage he would need we put a stuffed lion in his bed and we gave him the middle name Lion. To us, the lion stood for strength, courage and hope, all of which we knew our son had, and would need in his fight to survive.
When Landen was two months old, the doctors found out that his heart condition was caused by a rare disorder called LEOPARD syndrome, a RASopathy. By this time, our little Lion was in end-stage heart failure. Doctors gave us a choice: we could either take him home and enjoy what little time was left, or try for a heart transplant. We knew our little Lion had more fight in him, so we listed him for a heart transplant. On Mother’s Day, at 3 months old Landen received his life-saving gift and also another unexpected gift. Our donor family sent a little stuffed lamb that matched our son’s Lion perfectly, it had been in their daughter’s bed while she fought in the hospital. We now say “Our strong lion has the heart of a little lamb.”
Three amazing years later, we are still grateful for every day we have with our son, but with this gratitude comes unending oversight and heartfelt work. For example, our son takes multiple life-saving medications several times a day and his prescriptions are adjusted frequently. Landen has 11 doctors and has had multiple hospital stays and surgeries. He also has a feeding tube and other medical equipment with which I keep detailed records of his daily calories and fluid needs, and track his heart rate every day. One night, exhausted from organizing, tracking and managing Landen’s medical needs, I thought to myself, "There has to be a better way… something easier, more convenient and more accurate." The Pocket Physician was created.
Achieving the LionHeart Vision
There is a better way to take care of personal and family medical needs, and our goal is to make better tools accessible to those who need it most. The LionHeart team strongly believes that the Pocket Physician will improve the quality of life for all involved. “We are absolutely confident in our ability to make a product that is secure, private, and versatile,” says TekVital CEO Ryan Bakow. The app will also be great for those who are just starting to do their own medical care such as teenagers and young adults. Ultimately this application will provide a strong step towards unifying a very underdeveloped segment of the medical market: personal medical technology.
Knowing first-hand, the financial struggles those who have or take care of someone who has a medical condition can have, with co-pays, reoccurring medical bills, the cost of medications and medical equipment, we want to make this app available at no cost. In this way we will be able to reach a large audience and thereby be in a position to standardize these important tools. In order to achieve our vision, we will need the support of investment such as crowdfunding. This is a worthy cause and we encourage you to join our team.
Mobile Features & Benefits
· HIPAA Compliant, including secure login
· Organize and track 3+ people
· Medical Records Drop Box
· Notes section
· Track and record more than 10 vital indicators
· Send notes and information to your doctor
· Keep track of billing information
· Send information to Insurance providers
· Pro-plus allows additional caregiver access for teachers, babysitters, etc…
· Store reference material on special conditions
· Keep vital data in one convenient place
Join The LionHeart Team
We need your help even if you are unable to pledge your support here, please help us share this project on facebook, twitter and to your friends. We want you part of the LionHeart team.
Monday, January 20, 2014
This time last year! Here's to 2014!
I can't believe I started this blog 1 year ago this month! Wow-a lot has happened this year. It was one year ago I felt like I had lost a child... with confirmation of Asia's 2q23.1 microdeletion syndrome diagnoses. Finding out that Asia's symptoms were related to her genes meant there was really nothing I could do about it-her physical symptoms, her development, her overall health. I look back now at some of the first posts on this blog and it amazes me how much has changed. Last year at this time Asia was a MONSTER! She was physically abusive, screaming and tantrums non-stop, seizures were happening very frequently. I was ready to start seeing a therapist so I could cope. I am going to start by telling you that Asia-has had a amazing year! I am even more excited to tell you that we have started weaning her off of one of her anti-seizure medications!!! Yay!! Last year I removed one of Asia's prescriptions from her diet and it made the world of difference-her personality came back, she was healthier and peaceful. From there it all got better. She passed a goal at school!!!! First time ever. Everyone at school and her bus drivers have commented on her balance and coordination improving and how much conversation she tries to have with them. She is alternating her feet when she goes up stairs (this is BIG). She is starting to "play" with some of her toys. I have seen her use independent thought when asking her a question and then making a choice. One of her prescription medications was being given to help her "drop seizures". The awful, terrible kind of seizures-the ones that have scarred her face. We haven't noticed these types of seizures for at least 6 months. She will remain on another medication because right now she still has seizures-more of the absentee type. So....her neurologist approved the weaning off of Topamax to see how she does. Asia has had a very hard time this year keeping and gaining weight, she seems to have little appetite. She is also still very delayed with speech-she continues to only have a few words. Other children with 2q23.1 speak normally and we have a concern that Topamax is delaying her speech and causing her to have little interest in food. If she reverts to having drops-my hope is at that time she will be able to try CBD instead of Topamax. I am excited to see what this year holds for Asia and my family-Here's to 2014!
I have a cute side note: We all know that Asia loves her cheese. She will only eat the best now-you know, the expensive types from places like Italian deli's. Nothing American or "orange". At this appointment we were telling her neurologist that her appetite was very poor and all she wanted was expensive cheese-he thought this was pretty amusing saying "being a French man I understand"-it was so cute. If cheese makes her happy-she'll get her cheese:)
Sunday, January 19, 2014
USUOEDUCATION-special event
EVENTS FOR INDIVIDUALS WITH SPECIAL NEEDS
Please share this special event-What a great opportunity for our children who can not normally attend these events.
Access to Music: A Concert for Children with Special Needs and their Families-this event is FREE
Thursday, January 23, 2014 | 7 PM
Utah Symphony | Utah Opera offers an annual concert for children with special needs and their families. We present this concert because we know that many families cannot attend cultural events together because their special needs child acts in distracting ways. We feature our Opera Resident Artists with the Utah Symphony on the Capitol Theater Stage in a special concert where everyone understands the difficulty of keeping these children quiet in their seats. This concert is FREE but registration is required.
To register please click this link: http://usuoeducation.org/families/events-for-individuals-with-special-needs
Upcoming event:
Evening at the Opera for the Blind and Visually-Impaired
May 7, 2014- Mozart's The Abduction from the Seraglio
Sunday, January 5, 2014
Happy New Year 2014!!!
Oh my! Anyone else have a record busy holiday season?? I think mid November to now has been busier then ever before-and better. I fell behind on some of my posts! Kids are back in school tomorrow-yay:) so I will have a little extra time. I am really excited about the upcoming year-hopefully new treatments will be available to Asia (cross those fingers), a change in my photography business and a new project I can not wait to share. So here is a little belated "Happy Holidays" and a "Happy New Year" to you all- from us (Asia's Family)! xoxo
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