Congenital Hyperinsulinism International

Friday September 16th, 2016
by Julie Raskin
0 comments

Welcoming Jacqui to CHI!

NORD Summit, at the Gateway Marriott, Crystal City, on Thursday, October 22, 2015.  John Boal Photography

NORD Summit, at the Gateway Marriott, Crystal City, on Thursday, October 22, 2015. John Boal Photography

Welcome to CHI!
CHI is thrilled to announce Jacqueline Kraska will be joining the CHI team as the HI Global Registry Manager on September 26. We want to extend a very warm welcome to her. By way of introduction, Jacqui has the following message to the HI community:
“Hi everyone, it is an absolute pleasure to be joining the CHI team, and I look forward to working with the community to support invaluable research and the growth of this terrific organization. A little bit about myself, I’ve spent the last 15 years working in research and development.

I have worked for the National Institute Health Research in the UK and have also overseen research and development services at a large National Health Service Trust in Devon on the coast of England. Two years ago I returned to the United States where I was raised in Connecticut and started my role at NORD, where I managed their research grants and registry program for the last two years.

In addition to my career, I have lived in Hong Kong for 5 years, travelled many areas of the world and written a novel called Agents of Movement. When I have time I continue to write, though dedicate my profession to research – especially in the rare disease space where I appreciate its unique challenges, and the drive and strength of its passionate patient community. “

The goal of the HI Global Registry is to enhance and increase interest in congenital hyperinsulinism (HI) research, advance the ability to diagnosis and treat HI and improve the quality of life of those living with HI. By putting the information from HI individuals in one powerful database, issues related to HI, such as how it presents, impacts of various treatments and other disease-related problems, become more evident. One international registry of HI patients receiving a variety of treatments around the world will create greater understanding of the disease than what many smaller collections of information could accomplish.

Using a database program developed by the National Organization for Rare Diseases (NORD), Congenital Hyperinsulinism International will launch the HI Global Registry, which will offer surveys to parents of HI children and individuals with HI about their HI experience. The answers to these surveys will be stored in a secure and private manner, with parents and individuals having the full control of what information can be seen. Surveys will include questions regarding diagnosis of their HI, treatments they have received, symptoms they have experienced, developmental assessment, diet-related issues, other relevant health information, and ability to access treatment and supplies.

The HI Global Registry Protocol and questionnaires are being developed by the Registry Steering Committee. Its members include leading international HI experts and Patient advocates.

Share

Tuesday August 30th, 2016
by Julie Raskin
0 comments

Social Security Disability Information for Congenital Hyperinsulinism

Social Security Disability for Congenital Hyperinsulinism social_security_disability
Most often, when people think of Social Security disability benefits, they think of a disabled worker who is unable to continue with his work duties and support his family. This is not always the case. There are many children that qualify for Social Security disability benefits because they were born with a congenital illness that can take a major financial toll on the entire family.
To help alleviate financial stress and to make medical care more accessible, the Social Security Administration (SSA) offers benefits to some families who have children qualifying because of a serious illness or health condition.

Financial Qualifications for Your Family
When a child younger than 18 applies for disability benefits, he or she would be applying for Supplemental Security Income (SSI). This is because SSI benefits are only for the most needy. If you or your spouse earns a living wage, your child will not be eligible for SSI benefits.
Income that is not included are Temporary Assistance for Needy Families, pensions from the Department of Veterans’ Affairs, foster care assistance for an ineligible child, general assistance or income used to make court-ordered payments.

Deeming stops the month after a child’s 18th birthday, so illegibility could change. This means that once your child with Congenital Hyperinsulinism (HI) turns 18, he or she may have a much easier time qualifying for disability benefits because your income will no longer be evaluated, even if your child still lives at home.

Qualifying Medically for Congenital Hyperinsulinism
HI refers to a variety of congenital disorders in which hypoglycemia is caused by excessive secretion of insulin. With this condition, hyperinsulinemic hypoglycemia can be mild or severe or transient or persistent. The SSA’s medical guide, which is the Blue Book, has a listing for Congenital Disorders that Affect Multiple Body Systems.
110.00 – evaluates congenital disorders that affect multiple body systems.

Under 110.08 is the listing for a Catastrophic Congenital Disorder which:

• is expected to cause death during the first month of life

OR

• is expected to have a very serious interference with development or functioning.
With the appropriate medical records, physician notes and documentation, HI can be proven to have a serious impact on development or functioning of the individual. If necessary, the condition can be approved for benefits using the residual functioning capacity (RFC) form, which will show the severity of the condition and how it impacts your child’s ability to participate in typical childhood activities.

As an example, your child may not be feed him or herself due to food aversions caused by hyperinsulinism. Dressing oneself can be difficult if motor coordination is impacted. Walking or playing sports may be impacted by the effect of prolonged hypoglycemia due to hyperinsulinism. The symptoms of short-term hypoglycemia and the intensive treatment regime can also impact daily living.

Applying for Social Security Disability Benefits
The process of applying for SSI benefits through the SSA can be long and drawn out. The more information and documentation that you provide during the application process, the better your odds of approval earlier in the process.

On average, you are notified within 5 months of the initial application process of whether or not you are approved for benefits. If your child’s SSI You can start the application for disability benefits online on the SSA’s website, but you will need to stop by one of the 1300 SSA offices in the US to complete the application. You can schedule an appointment at your closest office by calling the SSA toll-free at 1-800-772-1213.

The content of this article was provided by Social Security Disability Help. Their staff can be reached at help@disabiltiy-benefits-help.org.

Share

Wednesday May 25th, 2016
by Julie Raskin
0 comments

UPDATE: Raring to Go for CHI: Riding for Research

Earlier this month, on Saturday, May 7, the Raring to Go for CHI team took part in the Million Dollar Bike Ride. Over 600 riders assembled in Philadelphia to ride bikes with the purpose of raising rare disease research funds. The CHI team was our biggest ever. Folks with congenital hyperinsulinism (HI) and their friends, HI RidingforResearch2016-573111b961657parents, and HI medical professionals came together to ride through the streets of Philadelphia, and they didn’t let a little rain stop them.

The funds each team raises are used for pilot research studies – exploratory studies that give insights into the actions, efficacy, and safety of a drug or diagnostic process.

For those who are familiar with the HI community, it is clear that new research is extremely important because only a portion of babies born with the disease have good treatment options. Many babies spend months in hospitals before they are discharged, finally returning home with a treatment plan difficult to maintain.

The problems continue. Blood sugar issues can last a lifetime, and there are often complications from the condition including neurological problems, and other health issues as well. There is also so much stress on the family because feeding can be so difficult and good blood sugars are often dependent on a strict feeding schedule and a gastrostomy tube (G-tube) in good working order. Stuff happens. Sometimes things go wrong — there is a power outage, a g-tube gets unhooked, or a baby just doesn’t want to eat. All of this can induce extreme anxiety for parents trying to keep a child’s brain safe from prolonged hypoglycemia.

We live in promising times. There are a number of investigative studies taking place at HI centers around the world. Biotech companies are interested in our population and working on investigative treatments. This is truly fantastic but not enough. We need more researchers to get involved and to be funded to work on new concepts.

The Raring to Go for CHI Research Fund at the Center for Orphan Diseases of the University of Pennsylvania offers a new competitively bid pilot grant each year, and this is a great way to increase the pipeline of excellent research projects that can lead to better treatments or cures for people with HI.

What is truly incredible about this opportunity is that all of the funds raised are for research. Better yet, the funds that CHI raises are fully matched by the University of Pennsylvania.

Researcher from anywhere in the world can apply for these funds. The grant process is overseen by rare disease specialists including those who specialize in HI research. The patient voice is included in the process. HI families will be asked what their priorities are for research areas.

This year, for the first time, those who rode in Philadelphia on May 7 have been cheered on and supported by the Raring to Go for CHI Teams all over the world. HI families have put their little ones on wheels of all sorts and they raise funds from wherever they are in the world through their CrowdRise teams. Older kids have also started teams and raised funds. It’s been a great year of riding for research. Let’s keep it up. Here’s the link to donate: https://www.crowdrise.com/raringtogoforchi.

Share

Tuesday March 15th, 2016
by Julie Raskin
0 comments

Raring to Go for CHI: Ride with Us and Raise Funds for HI Research

CHI is pumped to announce that once again we will be participating in the first Million Dollar Bike Ride sponsored by The Penn Medicine Orphan Disease Center on May 7, 2016. This event will raise awareness of rare diseases while raising funds for rare disease research. Our team, the “Raring to Go for CHI” team will raise funds for congenital hyperinsulinism research. The Orphan Disease Center will match up to $50,000, so this is really a fantastic opportunity to raise funds for research. This summer there will be a request for proposals from the Orphan Disease Center and researchers from all over the world will be able to apply for the funds we raise on May 7. The Orphan Disease Center will fully administer the grant. All money raised goes directly to the grant. All administrative fees are being paid for by the Orphan Disease Center out of their own budget. 100% of the funds we raise will go to the researcher selected for the grant.

CHI has funded two excellent research projects by riding and fundraising. Last year the CHI research grant was awarded to Dr. Mark Dunne of the University of Manchester for a project entitled: Towards Precision Medicine in the Treatment of Congenital Hyperinsulinism in Infancy. In the inaugural year, the CHI research grant was awarded to Dr. Diva De Leon of the Children’s Hospital of Philadelphia for a Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism.

Our team will be riding alongside many other wonderful teams. By riding with our counterparts, we will also deepen our connections to other rare disease groups. The purpose of the Orphan Disease Center/CHI Research Fund is to encourage innovative, pre-clinical or clinical studies designed to improve the diagnosis, therapy, or quality of life for those affected by congenital hyperinsulinism. The grant will be awarded to a researcher anywhere in the world, to initiate or augment a scientific, pre-clinical or clinical research study, the results of which could be used to obtain future funding from NIH, FDA or other international funding agencies, or to attract a corporate sponsor. Evaluation of proposals will include careful consideration of value to the patient population, protocol design, objectiveness of parameters measured, and statistical evaluation proposed.”

The name of our team is “Raring to Go for CHI.” Each team has a captain. Our captain is the fantastic Leo Brown. Born with congenital hyperinsulinism, Leo is a wonderful young man in his twenties who is graduating from Harvard University’s School of Public Health. Leo is also the creator of the Nutrition Algorithm, https://www.thenutritionalgorithm.com , a website that takes your diet and fills in the gaps to meet your nutrition needs within your budget. You must check it out. But before you do, read the instructions below about how to sign up for the Million Dollar Bike Ride “Raring to Go for CHI Team.” It looks complicated but is actually quite easy. Here is the link to Leo’s Instructions: The-Million-Dollar-Bike-Ride-Raring-to-Go-for-CHI-Sign-Up-Instructions. Here is a link to instructions from the Orphan Disease Center: How to create your fundraising page MDBR.

Share

Tuesday February 9th, 2016
by Julie Raskin
Comments Off on Rare Disease Day HI Awareness Campaign Instructions

Rare Disease Day HI Awareness Campaign Instructions

Jilani for giving tuesdayRare Disease Day 2016 is around the corner! Let’ share our Won’tcha Be my Sugar photos on Facebook, Twitter, and Instagram accounts in February and raise awareness of HI to save lives, end brain damage, and advocate for better treatments. Let’s also share our stories. The global theme this year is “Patient Voice.” Let’s make our HI voices heard and share our sugar baby photos.

We hope everyone who participated last year will do so again, and that anyone who didn’t get a chance last year does so this year.

For those who want to participate, please send in your children’s photos in a Won’tcha Be my Sugar frame to jraskin@congenitalhi.org. Please also send a brief message that you would like to share with the world about your sugar baby or HI. Please also include the sentence: I give CHI permission to share my child’s photo on the CHI Facebook Page, CHI Twitter account, and CHI Instagram account.

Instructions on how to create your Won’tcha Be My Sugar photo are below. If you prefer, we can put the photo in the frame. Just send a square photo to us at jraskin@congenitalhi.org. For those who participated last year, you can send a new photo to participate again!

On the day your child’s photo appears, please share it with your family and friends, so we raise more awareness!

Here are the instructions to make your special Won’tcha Be my Sugar Photo:
• Download the photo frame (scroll down below to select one) that you would like to use for your customized Won’tcha be my sugar” photo
• Create a Canva Account at www.canva.com
• Go to “Start a new design” page.
• Choose Social media
• Click on “uploads” with little picture of an arrow on left side of the screen.
• Upload the “Won’tcha be my sugar frame” you have selected for your photo.
• Upload a square photo of your child.
• Double click on the photo of your child into the white square on the right.
• Double click on the “Won’tcha be my sugar” frame.
• Make sure the frame covers the photo. If you need to crop out some of the white around the photo or frame, you can do this in Canva or after you have downloaded with your own photography software.
• When you are satisfied, click “Download.” This choice is above your photo.
• Choose “As an image.” You can choose JPG or PNG
• The photo will be downloaded to your computer.
• At this point, you may still want to crop out some white, if there is some around the frame.
• Send the photo to jraskin@congenitalhi.org and we will post between now and March 15.

On Twitter we will use hashtags #sugarbabies #hyperinsulinism #bemysugar #congenitalhyperinsulinism #rarediseaseday hyperinsulinismawareness #HIguidelinessavelives #rarediseases

You can download the frames here to make your special sugar baby photos (choose any of the 3 templates below, right-click and save):

template 3
Template 2
template 1


Here’s Brenna from last year’s Rare Disease Day campaign!

Brenna Be my sugar

And here’s Emi from last year’s Rare Disease Day campaign!

emi legano

Thank you so much for participating!

Share

Browse our recent Twitter and Facebook feeds below. At right, you can click to follow us on Instagram:

Follow Congenital HI on Instagram


Follow Congenital HI on Twitter

Follow Congenital HI on Facebook