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Archive for August, 2014

How Can I Prepare for My Visit with an Ichthyosis Medical Expert?

So, you’ve finally scheduled an appointment with an ichthyosis medical specialist, but have no idea as to how to prepare – no worries, our physicians will guide you step-by-step on how to have most effective visit possible.
At the FIRST National Family Conference in Indianapolis this past June, we sat down with Drs. Keith Choate and Philip Fleckman and asked them that very same question. Here’s a video clip of our interview, followed by a checklist of the critical steps necessary to prepare when meeting with an ichthyosis specialist.

• Educate yourself as much as possible, beforehand. The FIRST website is a wonderful resource with abundant information on the both the clinical and emotional aspects of many types of ichthyosis and related skin types.
• Bring the affected person to the visit only and leave the rest of the family at home, if possible. This will help with concentration, focus, and ensure that you cover all your areas of concern. The more relaxed you can remain, the more effective the visit will be.
• Discuss the situation with your spouse, or family members, that will not be at the doctor visit. Write a list of their questions and your questions, so you don’t forget anything, and bring it with you.
• Write a summary, journaling what your experience has been since you or your child was diagnosed. Reach out to the doctor before the first visit, by either mailing, emailing, or discussing it with them over the phone. Let them know the exact genetic diagnosis if you have that information, symptoms, concerns, and specifically how ichthyosis is affecting your lifestyle. Writing it down may also take some of the emotion out of the story, so you can remain focused, and also help the doctor to better prepare for the visit.
• Bring all blood test results, physician reports, photographs, etc. – anything that has been medically recorded.
• Always remember there is a difference in what you read on the internet, and what the average experience might be. Many times the internet is filled with “worst case scenario” stories. At your visit, discuss the things that scare you with your doctor. He or she will be able to discern medical fact from hype and sensationalism, and provide more supportive stories, people and resources.

Don’t hold back on discussing anything that comes to mind, particularly issues that have made you uncomfortable. This visit is an opportunity to educate yourself and to give yourself peace of mind.

Can Reality Outshine our Wildest Dreams?

On any given day, Amy and Andy Coolidge of Frisco, Texas, can be found sprinting from one doctor’s visit to the next, while keeping up with life’s never-ending demands and “multi-tasking to the max.” Yes, they are a married couple in the middle of their lives. Yes, they have jobs, housework, finances, and errands to run. And, yes, they are raising three young children.  However, the Coolidge’s are juggling just a bit more than most – as each of their three children have special needs.


Their children, Chase, age 8, Madison, age 12, and Drew, age 14, are all affected with the rare disease, Trichothiodsytrophy, also known as TTD.  According to Dr. John DiGiovanna of the NIH, “TTD is a rare autosomal recessive disorder that is characterized by brittle, sulfur-deficient hair, short stature, and multisystem abnormalities. Patients may have exaggerated sensitivity to sunlight (photosensitivity), developmental delay, recurrent infections, and ichthyosis.”

Mom Amy says, “Trichothiodystophy affects all of my kids differently.” Madison has Primary Immune Deficiency, a condition which weakens the immune system, allowing repeated infections and other health problems to occur more easily, and Neutropenia, an immune deficiency which presents as an abnormally low count of neutrophils, a type of white blood cell that helps fight off infections. Chase also is immune deficient and has most recently been diagnosed neutropenic as well.

And yet, even while faced with these extraordinary challenges, the Coolidges greet each day with hope, energy and grace. They are bound and determined to make the very best of their situation and the very best lives for their children.310

“These kids are amazing, challenging, daunting, and inspiring,” says Amy.

”People stop us at the grocery store, at school, and in restaurants to comment on how much joy our kids bring them just by seeing them, knowing them, or talking to them. Every day brings a new emotion. Some days it brings happiness, some days it brings fear; but every day brings knowledge. We learn something new about Trichothiodystrophy and ichthyosis every day.”

But on one particular day last February, they were greeted with something a little more – a stroke of magic, courtesy of the Make-A-Wish Foundation.

IMG_4384They were informed that Make-A-Wish would not only be sending them on a spectacular trip to Disney World, for seven days and seven nights, but the local Dallas Make-A-Wish chapter would also be granting the “firefighting” wishes of  little Chase, making him an honorary firefighter for the day. “He got his own bunker gear. He flew in the Care Flight helicopter, and they even had him put out a fire and rescue someone!” said Amy as she described “Fire Safety Town,” equipped with “mock” rescue operations.

“To see your son, who goes through a lot, doing something he really wanted to do is truly a blessing,” added Chase’s dad, Andy.

But the dream didn’t end there. Madison, now an official “Wish Kid” was also asked by fashion designer Loren Franco to participate in a fashion photo shoot!

“Madison was so excited, she had never done anything like this before.”IMG_4820

The photos were stylized as “dream like” fairytales with Wish Kids strolling through a sunny meadow, wearing dramatic, flowing dresses. But not just ordinary dresses, these were Loren Franco originals, and by that, of course, means they were born from the imagination and crafted of “the unexpected” – more precisely…the were made from real parachutes!

The photos will be featured in upcoming promotional materials for Franco’s “Reaching for the Stars” fashion show scheduled for September 20, 2014, where she’ll introduce her latest line of art-inspired fashions and accessories. The cat walk will be graced by the Wish Kids themselves.  “Madison and a few other Wish Kids were also asked to be a model in the fashion show in September. It’s like this wish never ends!” added Amy.

So, yes, for this special family…reality shines on. Stay tuned.