Saturday, June 23, 2018

Welcome to Salt Lake City!

Photo Credit: myrockymountainpark.com


Everyone is excited about this year's Annual Family Retreat and Educational Symposium presented by Primary Children's Hospital. I hope this short guide will give you more information about places to eat, explore, and meet any needs that may come up during our visit to Salt Lake City. 

Let's start with the fun stuff...

Photo Credit: Bon Appetit


Coffee, Dining and Day Trips!

Here is an article from one of my favorite magazines, Bon Appetit. The locals tell us the best places to eat, drink, and have fun in Salt Lake City. Enjoy the great advice gathered by Bon Appetit.  (Sorry in advance for the relentless popups on this website.)

Photo Credit: riteaid.com


The Necessities - Pharmacies, Urgent Care, and Hospitals

Despite our best efforts, we are all going to need to pick up something we may have left at home, or we may need to seek medical care while we are on vacation. Here are some suggestions. In a pinch, you can also ask the hotel concierge for suggestions, too.

Pharmacies 

Hospitals

Urgent Care 



Supermarkets and Superstores

♫Here they are to save the dayyyy...!!♬ Whether you need some snacks or special food for your loved ones, here is a list of the nearby supermarkets and superstores.

Target 

Whole Foods

Trader Joes

Costco


I hope this list of links helps you enjoy all that Salt Lake City has to offer. I am confident there are many other places to explore. Do not hesitate to pick up free travel guides, speak to our Salt Lake City-based families, the hotel concierge to seek out their suggestions. If there is trouble in your hotel room or accommodations are required of the hotel, please speak to the Little America front desk staff. 

Safe travels everyone. Then let's have some fun. 



--Kara Jackman 

Thursday, June 14, 2018

Study Participants Needed for 'Born A Hero' Study...See If You Qualify



Lots of research is happening across the country. Born A Hero needs your help!  See if you qualify for this research opportunity. Read the flyer below and email Carolina Sommer with your name, phone number, email address, and age to receive a questionnaire. Thanks!

Wednesday, June 13, 2018

Craniofacial Researchers Across the Country Need Your Help!



Many researchers across the country are conducting studies to better understand craniofacial conditions. You can help improve the future of medical care for those born with facial differences by sharing your personal experiences. 
There are countless examples of research papers that benefitted from participants like YOU! Recently, Gabriella Miller and the Kids First Pediatric Research published a study thanks to the assistance of people affected by orofacial clefts. Read their study results here Orofacial Clefts Genetics Study. This publication is informative for medical professionals to better understand how orofacial clefts occur. 
You can help provide insight for current studies to pave the way for major breakthroughs in treatment AND to assist medical providers move toward a more patient-centered care approach.
YOUR willingness to participate is one vital way to give back.


CURRENT OPPORTUNITIES
Review the links below to see if there is a study that you are eligible for and can contribute your family or personal experience to help brighten the future for those born wth facial differences.

ALL CRANIOFACIAL CONDITIONS
Directed at CCA Retreat Attendees and regional Utah families
At the University of Utah and Primary Children's Hospital, we are trying to better understand the impact craniofacial abnormalities have on children and families.  This study will help us both understand and measure the many ways this disorder has affected your child and your family. 
If your child has a craniofacial abnormality (CFA), you may qualify to participate in a study.  We are working with families to create a quality of life (QOL) questionnaire.  The CFA quality of life questionnaire will help providers understand how CFA impacts quality of life of families and those who care for young children with CFA. The goal is to give providers better understanding of the impact the disorder has on families’ lives, while also providing a framework for discussing and solving the problems families face.  We hope the development of this instrument will help other families impacted by CFA .
We will be conducting some focus groups during the upcoming CCA Retreat in Salt Lake. We hope you will share your family’s experiences with CFA with us, so that it can be reflected in the instrument we develop.  The survey here will allow you to sign up for a focus group. It also asks for a limited amount of information about you and your child, to allow us to plan the focus groups and analyze the transcripts. All personal information is very carefully protected.
If you have additional questions, you can email our study team at [email protected]. The lead researcher and doctor for this study is Jonathan Skirko, MD
Families and individuals with Pfeiffer Syndrome, Apert Syndrome, Crouzon Syndrome, and Muenke Syndrome are invited to inquire about the reserch being conducted by Dr. Jabs and Carolina Sommer with the Born A Hero, an organization empowering kids born with Pfeiffer Syndrome. 
APERT SYNDROME
Dr. Drorit Gaines in California is conducting research on the connection between ADHD, Autism and sensory disorders among children born with Apert syndrome. All that is required for this study is an Apert Syndrome diagnosis, copies of your medical records, and the completion of a questionnaire. Click the link above for more information. 
GOLDENHAR SYNDROME

In the past two years, we at Baylor College of Medicine and Texas Children's Hospital have begun a genetic research program to look for the genetic cause(s) of Goldenhar Syndrome (also variously called Hemifacial Microsomia and Facio-Auriculo-Vertebral Spectrum). You may be aware that very little is known about the genetic explanation for these rare disorders, despite their variable effects on the eye, the ear, the face, the limbs and skeleton, and occasionally the kidney, among others. Also, these conditions vary widely from one family to another, so we expect that there is more than one genetic explanation for the same "diagnosis”, thus making the task of unraveling the true explanation(s) in any one family considerably more challenging! Many families have already had conventional genetic testing, which usually yields almost no useful information.

As part of The Center for Mendelian Genomics at Baylor College of Medicine, I am pursuing the genetic explanation(s) for the Goldenhar Syndrome and related conditions.

Since you as parents have an essential role in caring for, monitoring, and guiding the education of these children and young adults, I would appreciate most sincerely your joining us in this effort. Without your dedication and willingness, we cannot achieve the understanding that both the families and many scientists and physicians have wondered about for decades! There is no cost to any family for the detailed genetic analyses that will be done.

If you are interested in helping your child and in joining this research program, please contact me. Nothing of this scale has ever been done for this spectrum of disorders.
Please call my academic office at (713) 798-3030 or email me at [email protected]. 

If I am not in the office, please leave a voice mail with your name and a phone number for me to return your call. Also, please mention Goldenhar Syndrome or Hemifacial Microsomia in the message. I will call back and explain the details!
Thank you! Our team here is most eager to proceed with this unique and exceptionally important research program!


Richard Alan Lewis, M.D., M.S. Professor, Departments of Molecular and Human Genetics, Ophthalmology, Medicine, and Pediatrics, Baylor College of Medicine and Texas Children's Hospital




UNDIAGNOSED
The overall goal of this project is to connect rare and undiagnosed families directly with genomic researchers to discover all of the genes that cause rare craniofacial diseases, and use this information to increase the rate of rare craniofacial disease diagnosis. 
Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacial condition. From there, a member of our study team will set up a live video conference with the family to explain this research study and make sure that all of their questions are answered. With permission, we’ll reach out to the patient’s doctors directly to collect a copy of their medical records. Then, we’ll mail a sample collection kit directly to their house. Upon returning the kit to The Broad Institute of MIT and Harvard, samples will be registered in our tracking system and DNA will be processed for exome or genome sequencing. We will then begin analyzing data, comparing it to healthy individuals and identify which mutations in the genome are common, and which are rare and potentially related to their craniofacial condition. If we find results that explain the underlying cause of the rare condition present, we will request a second sample that will be sent to the Partner’s Laboratory for Molecular Medicine (LMM) in Cambridge, MA and will be confirmed in their clinical lab. LMM will provide a clinical report explaining the genetic findings, and these results will be shared with you and your local doctor. Click the link above for more information. 

Tuesday, June 12, 2018

#WonderWednesday: Elementary School in Newington, CT Dances to Raise $4,000




John Patterson Elementary School in Newington, CT danced the night away on June 11th to generously raise money for CCA. The students raised a whopping $4,000. On June 5th, they performed a reader's theater performance of the book "Wonder." Many thanks to the students and teachers of John Patterson Elementary. Check out these great pictures from the event. 



Dance-A-Thin in full swing!

(Left to Right Andrea Obert-Hahn and Denise MacDonald

Special thanks you to teachers, Andrea Obert-Hahn and Denise MacDonald for organizing the fundraiser. 

Please see the video below of the reader's theater to see there dramatic performance of R.J. Palacio's book. We are so grateful for your acts of kindness and celebration of a book that means so very much to our kids and families.



Thursday, June 7, 2018

Study Participants for Rare Genomes Project at the Broad Institute



The Rare Genomes Project, a study conducted by the Broad Institute, is looking for participants for a research study on rare, undiagnosed or unnamed facial differences. The genetics of those born with craniofacial conditions may tell some of the story behind why these syndromes occurred. I interviewed researcher, Kassandra Nealon about the study via email. She was kind enough to answer questions about the purpose of the study, what participants are required to do, and what they expect to accomplish with your help. Learn more about the Rare Genomes Project on their website


What is expected of the research participants?

Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacialcondition. From there, a member of our study team will set up a live video conference with the family to explain this research study and make sure that all of their questions are answered. With permission, we’ll reach out to the patient’s doctors directly to collect a copy of their medical records. Then, we’ll mail a sample collection kit directly to their house. Upon returning the kit to The Broad Institute of MIT and Harvard, samples will be registered in our tracking system and DNA will be processed for exome or genome sequencing. We will then begin analyzing data, comparing it to healthy individuals and identify which mutations in the genome are common, and which are rare and potentially related to their craniofacial condition. If we find results that explain the underlying cause of the rare condition present, we will request a second sample that will be sent to the Partner’s Laboratory for Molecular Medicine (LMM) in Cambridge, MA and will be confirmed in their clinical lab. LMM will provide a clinical report explaining the genetic findings, and these results will be shared with you and your local doctor.


What kind of samples would they need to provide? (Blood, urine, cheek swab, saliva swab, etc.)We will send a collection kit to enrolled families who can choose to have their blood drawn at a Quest Diagnostics Patient Service Center (www.questdiagnostics.com/appointment) or by a phlebotomist of their choice (including at their local physician’s or hospital’s lab). Saliva kits are also available for participants who are unable to have a blood draw. The sample collection kits will be mailed back to the Broad Institute Genomics Platform, where DNA extraction and DNA sequencing will be performed.

What do you plan to do with the information? / What will the study look at?

The overall goal of this project is to connect rare and undiagnosed families directly with genomic researchers to discover all of the genes that cause rare craniofacial diseases, and use this information to increase the rate of rare craniofacial disease diagnosis. We believe it should be easy for rare and undiagnosed patients to participate in research. The vast majority of rare and undiagnosed patients have not participated in research, because doing so often depends on traveling far distances to a doctor’s office. We hope to provide the community with an opportunity to have a direct impact on our understanding of the genes that cause rare disease, by allowing patients to participate, no matter where in the country they live.

Who is eligible to participate?

Patients and families with a rare and genetically undiagnosed condition who live in the US, understand English, had appearance of severe symptoms before the age of 13 and are currently under the care of a doctor that is helping to understand the cause of the patient’s condition are qualified to participate in the craniofacial rare genomes project. At this time, we are unable to include patients and families that have a suspected or known environmentally caused condition, have any condition known not to involve a genetic link or have a genetic diagnosis that fully explains the patient’s condition.

Are there any costs to participate?
 The cost of the sample collection kit, sample collection at Quest Diagnostics, genomic sequencing, and clinical confirmatory genetic testing will be covered by us.

Tuesday, June 5, 2018

From the Bench with Francis: Discussing Research on Embryonic Development of the Face with UCSF



    
From the Bench with Francis A regular column on craniofacial 

news and technology by Dr. Francis Smith


Dr. Francis Smith interviews his colleagues and fellow researchers at the University of California San Francisco where he received his doctorate in 2012. Smith is currently a post doctoral fellow at University of Colorado. This conversation discusses development of embryos, what happens during cellular development for facial differences to occur, dental research in development of craniofacial conditions, and genetic networking and communication in dental and medical research.


Friday, June 1, 2018

Ask The Athlete: Custom-Built Helmets For Our Kids


By Kara Jackman 

Question: My son was born with a craniofacial condition that affects the shape of his head. 
Where can I buy a custom made bike or sports helmet to fit my son's head?  

Answer:

Great question! Kids need helmets for so many sports including, biking, hockey, baseball, and even rock climbing if they are so inclined. I believe the sky is the limit for all kids with sports, which is why I hope this information on helmets is helpful.

I began the journey to learn more about custom made helmets at everyone's favorite search engine: Google. I also emailed a few companies, but received limited responses (read: no reply). My Google search yielded less-than-stellar information, too. Still, I found one article that gave me hope. This Gizmodo article written in 2014 describes a company called Bell helmets that created helmets using 3D camera and printing technology. The key is finding a helmet company that does custom molding to the head. It appears that Easton - Bell did make these helmets according to the Gizmodo article. This was an exciting use of modern technology. Unfortunately, when I clicked on the links to the Easton - Bell site embedded in the last paragraphs of the article, the links were dead. I emailed them and called, too, but got no response from the company. The project must not have been able to sustain itself. 

So back to the drawing board it was...This time I set the computer aside and picked up the phone. I spoke with Jim Brookshier, CPOLPO, an orthotist. He told me that he can acquire a mold of the head through 3D, laser technology, just like the folks in the Gizmodo article. Typically, Brookshier creates these scans for cranio-remolding helmets, but the same technology can also be used for safety helmets, too. For a bike helmet, the laser scans are then provided to Brookshier's technicians to build the helmet. Someone was doing this work!  


Cranio-remolding helmet Photo Credit: OrthoAmerica

Brookshier says"There are many things to take into consideration when building a helmet of this kind. 'Is there a shunt? What other face or areas of the head are prone to pressure? "What is the extent of the activity and will the helmet need to have a full-face guard? He also advises people to "check their state Department of Transportation guidelines, too." Finally, he recommends speaking with an equipment manager for your local high school or college sports teams to determine how they go about sizing a helmet for baseball, lacrosse, or hockey players. 

Beyond calling the professionals at OrthoAmerica or our friend Jim, the best advice I can give at this point is to go to your hospital's prosthetics and orthotics shop and start asking some questions. Determine whether they can build something specific to your child's head. Also, contact engineering schools or design engineers to get them interested in this need.  Thirdly, bonus points if you can get an orthotist and engineer in the same room to discuss the helmet. The need is there for our craniofacial kids, but also for bike riders, football players, race car drivers, and others that want better fit and protection. 


Thanks for the great question. If you have a sports, athletics, or activity related question, please send us a private message on the CCA Facebook page or to kjackman98 [@] gmail [.] com. 





The Mighty June Writing Prompts

Here are the writing prompts for June. I hope these inspire some strong soul searching and pen scratching!




1. Has a form of self-care ever actually made you feel uncomfortable? For many of us, self-care can feel a bit unsettling, even though it’s in our best interest! Describe a moment you practiced “uncomfortable self-care.” What was the outcome?
2. Do you have a symptom of your condition you find hard to explain to others? What is the symptom? Now, challenge yourself to find a creative way to explain it — or, describe a moment when you found people’s misconceptions about it frustrating and what you do to combat that.
3. Sometimes, a weird or unlikely “sign” signals to us that we are not doing well. Describe a moment you realized you were not OK, despite coming off as “OK” on the surface. What made you realize you needed to ask for help or take action?
4. Stereotypes exist around almost every condition. What do people think your condition “looks” like, and what does it actually “look” like on you? You may want to include a photo to illustrate your point!