Wednesday, January 27, 2016

Does a first impression need a warning?

Today on the blog, Christine Clinton, CCA Adult, shares an excerpt from her memoir . I asked Christine if I could share this part of her story because I think it's something a lot of us have experienced.

You may know this experience too... the well-intentioned "trigger warning" our friends give out before someone new meets us. Of course we know, our friends and family prep others about our difference to protect us and help out, it also can be disheartening. We want to be accepted for who we are and sometimes we desire the opportunity to make our own, real first impression.

Here's what Christine has to say about it:
There have been a couple of individuals, who I have encountered, who have deemed it necessary to have to 'prepare' other individuals, about me, before meeting me for the first time. I just want everyone who is reading this to know, that no one ever has to be 'prepared' to meet me. I am as much of a person as everyone else is, and I deserve just as much respect as everyone else does. I am a human being, and I deserve to be treated like a human being. I don't understand why some people have this need, but really, is it necessary? I don't think so; but then again, that is my own opinion. 
Once I overheard a family member telling my parents that 'I was not normal,' that 'my parents were only making me think that I was normal.' That made me very sad, and very, very upset; because let's face it, no, I am not the 'normal' that society deems as 'normal,' but like I said, I am 'normal' in my own right and in my own way.
How do you feel about a pre-meeting warning?

Monday, January 25, 2016

Interview with Dr. Scott Bartlett, CHOP

Recently, one of the craniofacial surgeons - Dr. Scott Bartlett - who works closely with many of our CCA families was honored for his incredible career and work training other surgeons. We know that our families enjoy a close and special relationship with their surgeons, so CCA reached out to find out more about the award and Dr. Bartlett's work in this exclusive interview.

Please join with us in  congratulating Dr. Scott Bartlett, CHOP’s Chief of the Division of Plastic and Reconstructive Surgery, for receiving the American Society of Maxillofacial Surgeons President’s Honorary Award. This award is given to a physician to honor their countless contributions and service to the specialty and for their enormous impact on the profession by educating and mentoring generations of plastics surgeons. Dr. Bartlett received the award at the American Society of Plastic Surgeons’ recent meeting in Boston.

CCA: How long have you been a craniofacial surgeon? 
SB: 29 years

CCA: What led you to pursue this field as a career?
SB: Well, I was always interested in the face, and after medical school, that led to fellowship in craniofacial surgery. After my fellowship, I had the opportunity to stay at CHOP and the rest is history!

CCA: What was the hardest part of medical school or residency? 
SB: It’s all pretty hard! But, the hardest part physically was residency in general surgery. When I was a student, on the old system, you had to go through general surgery first (which is 5 years) and then I spent every other night on call for 5 years. That's not the model anymore. However, I wouldn’t trade it for the world – this grueling schedule taught me to a doctor first and a surgeon second. So while it was completely physically demanding, I wouldn’t want to change the experience looking back.

CCA: What is the best part of your work week? 
SB: I really enjoy the procedures that I perform. I enjoy spending time in the OR. Also, I love seeing the patients in followup in the clinic. Seeing the successes and seeing how you can improve results inspires me. I am constantly thinking about how I would and can improve results for my patients. 

CCA: Over the years, what have you learned about the kids and adults you serve? 
SB: I think that there’s obviously a lot that you learn – but what has been one of the biggest lessons, that I'm taught again and again every day – is that kids can overcome incredible adversity with regard to procedures. Also, many patients have difficult functional problems but the thing that matters to them is their appearance. I also recognize that especially as we get into the teenage years, appearance trumps everything. This is not to say it is cosmetic, but actually reconstructive. Recreating the form they desire motivates me. Plus, the form and function go hand in hand - of course you have to ensure proper function, but form may be more important to patients than function. People are willing to modify their lifestyles and put up with small inconveniences to achieve the reconstruction they desire.

CCA: Do you share a special connection with your patients? Any stories come to mind? 
SB: Knowing our patients as we do, one of the things that we have that not all specialties get to experience is ability to follow our patients from infancy through adulthood. We see them when they are babies to when they transition out of our care and are finished with procedures. Working this way with longitudinal followup is really satisfying. I remember once, at discharge appointment for an 18-year-old patient of mine ...  she walked around the whole office saying thank you to everyone with tears in her eyes because this place had been her medical home. She truly considered us part of family and we were a part of her healing.

CCA: If you could tell the world one thing about your patients, what would you say? 
SB: The patients are incredibly resilient! They are appreciative. There are times in their lives when they don’t seem that way but considering all the difficulties they endure, they are a remarkable group of people to face adversity the way they do and deal with it the way they do, with gratitude and grace.

CCA: What do you tell your patients to help them stay calm and positive before big surgeries? 
SB: I usually say, "Don’t worry, you’re just going to go to sleep. When you wake it up it will be over and you won’t know a thing. We’re well prepared for after surgery, you’ll be fine."

CCA: What is the best overall health and wellness tip you could give to your patients? 
SB: That's a good question! Staying positive about things is so important; there are a lot of tools we can use to help you out and there’s always a way to improve things. There’s no problem we can’t solve, even if it’s very unique or rare, there are lot of tools we can utilize to get the best possible results.

CCA: What is your proudest moment in your career? 
SB: Many things come to mind, but I am so proud of the recent President’s award, because it's given to an individual who has influenced the careers of trainees. I have trained as many if not more doctors in leadership roles in the field of craniofacial surgery than anyone else. It's gratifying to know I've been a part of that. Secondly, volunteering as a surgeon in Krakow, Poland at a pediatric hospital, University Children’s Hospital is a big part of my life. I've been on 60-70 trips and started an institution there. I still go and operate in Eastern Europe on complicated deformities – untreated diseases that we’d never see in the US because they never received intervention before. It's an opportunity to learn and to help these individuals.

CCA: What do you see in the future for craniofacial surgery?
SB: I am excited about distraction osteogeneis  – there are emerging, less invasive techniques and promising new work with tissue and bone. These advancements shorten recovery times and improve operating procedures and reduce hospital stays. 

CCA: If you could give one piece of advice to parents of children with craniofacial anomalies, what would say? 
SB: There isn't one thing I would say, because everyone - each case - is different. I do always tell them though, I give them my best opinion for their child and I only recommend what I think is best, but they should feel free to seek a second opinion. They should investigate their options.

CCA: What hobbies do you enjoy most? 
SB: Oh, I love skiing in the winter and fishing in the summer.

CCA: What's your motto? 
SB: Be prepared.  And, also - think in the 4th dimension. The 4th dimension being time... we have to think about the longterm results of the work we do. How will time change the reconstruction as they grow, change, and age? It's important to think of time, for the patient and the surgeon. Patients need to understand that we're working towards a goal and surgeons need to consider how the procedure will hold up as the child ages.

CCA: Thank you so much, Dr. Bartlett for sharing your thoughts with us. Congratulations on your award! 

Friday, January 15, 2016

CCA Family Update - The Hofmans

Family Update
The Hofmans attended their first CCA Family Retreat in 2015. Here's an update on what they've been up to since then. We thank the Hofman family for sharing these lovely photos and their story.

Halle Hofman (center) is a freshman in high school.  She played on the high school Freshman Volleyball team this year and loved it.  She has lots of friends and loves to be with them.  She just got a new puppy for Christmas - an Old English Sheepdog named Piper.  It is obvious they are going to have a lot of fun together!  Halle has done a lot of traveling in her life and has a passion for volunteer work.  She volunteered in an orphanage in China, helping children with disabilities and has volunteered at the Ghana Make A Difference Children’s home in Ghana several times.  She is very attached to the children at the home and saves her money all year to pay for her plane ticket to return each summer.

Mario and Julissa Wade
Halle’s brother, Mario, and his wife, Julissa, will both graduate from BYU Idaho in the spring of 2016.  Mario is completing his degree in Family Marriage Relations and will begin graduate school in the Fall of 2016.  Julissa will be completing her degree in Communications.

Cees and Madison Hofman
Both Cees and Madison just finished their undergraduate degrees at BYU in Provo, Utah. Cees finished his dual-degree earning a BS in Geology and a BA in Russian.  Madison received her BS degree in Exercise and Wellness.  In April, they will set off in their revamped 1989 Toyota motorhome with plans to visit every national park in the U.S.  They will be doing a photo mapping project documenting the “people in our parks,” while having a fun adventure.  They have been sponsored by Yakima, the world’s leading maker of car racks and Chaco, the popular maker of outdoor footwear.  (You can read more at

Austin and Arianne Johnson
Austin graduated in 2015 with a degree in Business from Utah State.  Arianne, Halle’s sister, will finish her joint BA/MA degree in Deaf Education at Utah State in 2016.  Arianne and Austin love to travel and spent 6 months traveling all over the world.  Lat summer they lead a youth trip to Africa for Ghana Make A Difference, a humanitarian organization working to protect vulnerable children in Ghana.  They are expecting their first child in June 2016.

Coleson Hofman
Coleson returned from a mission for The Church of Jesus Christ of Latter-Day Saints in October.  He served one year in Sierra Leone, Africa and then was transferred to Scottsdale, AZ when ebola hit Sierra Leone.  He loved his missionary service.  He will attend Utah State in the fall, pursuing a degree in Finance.

Ryan Hofman
Ryan is in 4th grade and wishes there was school on Saturdays, too! He loves sports and does very well with every sport he plays, especially soccer and basketball.  He and Francisca were adopted from Ghana in June 2013.  They have both adjusted really well and are very happy to have a family. They love having Halle for a big sister!

Francisca Hofman
Francisca is also in 4th grade and loves gymnastics. She does cartwheels everywhere she goes. She loves having lots of friends and loves to laugh.

Want to share your story and keep in touch with the CCA community?
Email Erica for more information.

Thursday, January 14, 2016

Eye on the Issue: Glaucoma in Infants

Today's guest post is from Amy K. WilliamsAmy K. Williams is mother of two and a former social worker, specializing in teen behavioral issues. Parenting is her passion and she is especially involved in spreading the word about positive parenting techniques.

Glaucoma in Infants: An Eye on the Issue
Most cases of glaucoma appear in people aged forty and higher, with an increasing chance of occurring as people age - but there’s a special kind of glaucoma that can appear in children before they’re even born. Usually referred to as congenital, pediatric, or infantile glaucoma, this inheritable condition causes the eye’s natural drainage systems to develop incorrectly. The end result is incorrect pressure in the eye, quickly leading to symptoms like unusually large eyes, sensitivity to light, and cloudy corneas.

How Common Is Childhood Glaucoma?

Some form of childhood glaucoma occurs in about 1 of every 10,000 births - which means that a child either has or will develop childhood glaucoma is born every single day in the United States. About 10% of cases are present immediately from birth, and another 80% will become apparent during the child’s first year of life.

The odds of childhood glaucoma increase significantly if the child has other issues with their eyes, such as cataract surgery, heavy use of steroids, or even simple trauma. It may also be caused by differing bone structures - if the bones are too tight, they could squeeze the child’s eyes and raise the pressure enough to cause this issue.

While we don’t know all of the causes of childhood glaucoma, current evidence suggests that any harm done to the eyes - regardless of the source - is associated with a rise in the development of this issue.

Treating Childhood Glaucoma

The good news is that childhood glaucoma can be treated. Curiously enough, developing glaucoma as an infant is actually better than developing it as an adult because it’s so easy to notice and diagnose. Glaucoma is a long-term problem for most people, and adults may be losing their vision for years before they even notice something is wrong. Infants, who tend to be treated as early as possible, almost always have it caught early enough for the most effective intervention techniques to be used.

There are two major kinds of treatments for childhood glaucoma:

  • The first technique, preferred in most cases, is surgery. Regardless of whether surgical tools or lasers are used, the goal is to create an additional drainage canal in the eye that reduces pressure and allows the eye to function normally.
  • The other technique is medication, using eye drops or oral medication to change the pressure within the eye. As long as pressure can be kept within normal limits, the child’s vision is unlikely to be damaged any further.

Damage done to the eyes by glaucoma cannot be reversed, but early intervention allows for as many as 90% of children to maintain normal (or mostly normal) vision for their entire life. Unfortunately, despite all medicine can do, a small percent of patients will still become blind as a result of childhood glaucoma.

Preventing Childhood Glaucoma

There is no way to truly prevent childhood glaucoma, especially if it is present at birth. However, there are a few things you can do that may help.

First, because the use of steroids can have an impact on developing glaucoma, avoid using steroids during pregnancy unless specifically instructed to do so by your doctor.

Second, try to eat a healthy diet and provide as many nutrients to your child as you can. Remember, human infants will take whatever they need with little or no concern for your well-being - they can’t regulate it, and neither can you, so you must consciously supply them with whatever they need. Having all the building blocks for a healthy body is one of the best ways of helping ensure they develop properly.

Finally, try to keep your child in an area that’s actually safe for them. While you don’t need to stick them in a padded room for their first few years, they should be given a reasonably safe environment. This reduces the odds of ocular trauma, and therefore the chances of developing glaucoma as they continue to grow.

Tuesday, January 12, 2016

Rare Disease Day - Feb. 29

Did you know that 1 in 10 Americans has a rare disorder?
Did you know that means over 30 Million Americans have a condition considered "rare?!"
Did you know 50% of people with a rare disease are children?

The numbers are staggering. Thus, World Rare Disease Day is an annual observance held on the last day of February to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare diseases and their families. CCA celebrates this day, too, as we regularly publish information on craniofacial syndromes, which are often very rare.

The 9th Annual World Rare Disease Day will be held on Monday, February 29, 2016 (the rarest day of the year)! On this day, various activities take place in the United States, Europe, Russia, Japan and elsewhere around the world.

Here are some ideas how you can participate:

Set up an Educational Display Table 

  • Contact CCA and we'll provide you copies of our syndrome booklets and posters to display on your table. 
  • Make a tri-fold poster about your medical journey with photos to educate others about medical treatments and options for craniofacial reconstruction and surgery. 
  • Set up! Great places to set up are in your school lobby, library, doctor's office, or the lobby of your local hospital. Make sure you ask permission 2-3 weeks in advance and check in the week and day before the event to make sure the space is yours.
  • Get volunteers to staff the table in shifts during the day, to have extra hands-on attention and who can talk with visitors about Rare Disorders and CCA.
  • At your table, you can have "Feel Better" and "You're a Champ" cards for visitors to color and sign. If you collect the cards and mail them to CCA, we'll include them in the care packages we send out to CCA Kids when they have surgeries!
  • Create ribbons out of scrap blue jeans and hand out to visitors. The blue jean ribbon is to celebrate all of our rare "genes!" They make a great awareness tool ... and they're very inexpensive if you make them out of old jeans. 

Give a  Rare Disease Day Presentation

  • Ask your teacher or principal if you can give a short presentation on Rare Disease Day. 
  • Make it personal! Create a PowerPoint to share your story with your peers. Let them know that while you have many different medical needs, our syndromes are only a part of our lives ... not the entirety of it.
  • CCA will provide you newsletters or brochures to hand out in the class, if you want.
  • You can order wristbands from the office to hand out to everyone who attends as a reminder that you "Care about rare!"
  • Schedule a Skype session with Peter Dankelson who will talk to your group what it is like to live with Goldenhar Syndrome and answer questions. Peter is an excellent speaker, so if you're not comfortable giving your own presentation, why not recruit an expert?!
  • Lunch & Learn: Parents, ask your supervisor or HR Department if you can reserve a room for a Lunch & Learn at your place of employment. During the Lunch & Learn, your coworkers either enjoy lunch you bring in or brown bag it to hear a special presentation about the rare disorder that you are familiar with. You can also ask your surgeon or physician to present a short talk during the Lunch & Learn.

Host a Rare Disease Day Fundraiser

  • Host a Jeans for Rare Genes Day at your workplace or school. For a small donation ($2-$5), employees and students can wear jeans on a Monday (Feb. 29). The money raised will help more CCA Kids travel to get specialist care for their rare syndrome.
  • Get Crafty! If you're doing a Jeans for Rare Genes day, award a prize for the most "bedazzled" pair of jeans.
  • Sell Jean Ribbons that you make for $1, so everyone can show their support for rare disorders. 
  • Ask permission and set up a Info & Donations table outside your favorite local business. Good ideas... salons, restaurants, baby boutiques, and coffee shops.
  • CCA is happy to provide you with any printed material you may need to assist with your fundraiser. Just let us know

Group Events & Outings

  • Gather all your friends and go as a group to play a round of softball, visit the zoo, or head to the movies en masse.
  • Wear your CCA t-shirts and raise awareness that individually we may be rare, but together we are strong!
  • Celebrate the true reason for Rare Disease Day... all of our lives are special, important, and powerful. What better way to celebrate than with those who care most about you?
If you plan to do any of these ideas - or have your own - please let us know! We'd love to feature you on our blog, social media, and in our newsletters

Monday, January 11, 2016

Ask the Doctor: Which Surgery First?

CCA posts a monthly blog series called, "Ask the Doctor." You can submit your questions to Annie Reeves ([email protected]) and we will ask Dr. Earl Gage of Kids' Plastic Surgery in St. Louis to answer them. Thanks Dr. Gage for helping spread information and resources for our cranio families! Today's question is about a course of treatment for a 9-year-old boy with nystagmus.

Ask the Doctor

Question: My 9-year-old son has no specific diagnosis, but has has many of the same general diagnosis's as children with CFND.  In addition he has congenital nystagmus.  Opinions have varied on the sequence of surgeries for him and possible combination of surgery regarding hypertelorism and midface, Lefort III.  Is there a specific benefit in the order of the surgeries?  Is it safe to do these surgeries together?  Is possible that surgery to correct hypertelorism will have a positive benefit for a child with nystagmus? 

Answer: With regard to sequencing of the hypertelorism correction and the Lefort III surgery, there probably is not a right answer. Opinions will vary from surgeon to surgeon, and there are many factors that need to be considered. For instance, how significant is the hypertelorism? Does the child snore and have sleep apnea? If the child has sleep apnea, is it effectively being managed with CPAP or other strategies? Is the child being teased, and if so, what aspect of the child’s appearance is attracting the negative attention?  Are there problems with biting and chewing as a result of the poor midface growth and the relationship of the teeth?  If there are no sleep or apnea concerns and the hypertelorism and appearance of the eyes seem to be the biggest concern, then correcting the hypertelorism might be the higher priority.  If there are obstructive apnea and sleep concerns, then this might weigh in favor of doing the Lefort surgery first.  It is my opinion that doing orbital surgery and a Lefort III at the same time would be too much surgery and may unnecessarily increase the risk of infection and other complications.  

As for the possible effects of hypertelorism correction on your child’s nystagmus, this is not my area of expertise. However, based on discussions with a pediatric ophthalmology colleague, I would say it is not likely that correction of the orbit position would have any impact on the nystagmus. There are many causes of nystagmus, most of which relate to intrinsic problems with the eye itself, central nervous system disease or optic nerve problems. I would not expect any of these common causes to be altered by mechanically moving the position of the orbit. I strongly encourage you, however, to ask your ophthalmologist for an opinion since he or she knows your child’s situation best.