Maximus’ Story with Goltz Syndrome

After a normal pregnancy, Brandi and Corey knew right away that something was wrong when their son, Maximus was born.  He had a wound on the top of his head, fused fingers and a missing toe. The nurses were hesitant to wipe off the newborn in fear his skin may slough up.

In this interview, Brandi and Corey talk about Maximus’ diagnosis of Goltz syndrome, his time in the NICU, and his numerous physical challenges. They discuss the relief and comfort they found in connecting with other Goltz families and the National Foundation for Ectodermal Dysplasias.  Listen as they explain why they gave him a strong name and their dreams for Maximus.

Suzanne’s Story with EEC Syndrome

Suzanne lives in Pennsylvania with her husband, Will, and their children, Caitlin and Tyler.  Mom and son are both affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

This tenacious educator grew up never knowing that her symptoms were actually a part of a genetic disorder.  In this interview, Suzanne discusses growing up without a diagnosis, finding her spouse, and educating doctors and others on how to treat people.

She talks about how she and Will chose to raise Tyler and how that has impacted him now that he’s an adult.  With her spunky attitude, Suzanne offers  inspiring words to be confident, believe in yourself and get involved.

 

Maverick’s Story With HED

Roy and Leslie welcomed their fourth child and first son Maverick in 2009.  From the beginning, he had signs that made him different than their other three children.  He was sensitive to the sunlight where they lived in Texas and only wanted to go outside at night. When Maverick finally developed a few teeth and they were pointy, they took him to the dentist who said that it was something genetic.

Leslie went to the web where she diagnosed her son as having hypohidrotic ectodermal dysplasias at 15 months old. Their doctor confirmed it.

This Texas family sat down to give voice to their experiences and the range of emotions they have felt since Maverick’s diagnosis as a toddler. Listen to their voices as they share their approach to managing his dental care and inability and the dreams they have for their son.

Information To Take to Your Doctor or Dentist

When you have a rare genetic disorder like ectodermal dysplasia, it’s possible that you will know more about your condition than a doctor or dentist. We know that it can be frustrating for you when you are the one seeking answers. With thousands of rare disorders, it’s not reasonable to assume a care provider will know about all of them. But, it is reasonable to expect that they would be willing to learn more or research the condition in order to help you.

Help your care provider by sharing information about your experience. Also, consider taking these resources to your first visit.

  • An NFED Brochure – This will provide your care provider with a quick overview of the ectodermal dysplasias, the programs we offer and our contact information. We are always happy to answer their questions or connect them with other physicians or dentists who have treated the conditions.
  • A Family Guide to the Ectodermal Dysplasias – This booklet goes into more depth about the typical symptoms and their treatments in the ectodermal dysplasias. It covers skin, hair, teeth, nails, sweat glands, eyes, ears, nose, throat and genetics.
  • Parameters of Oral Health Care for Ectodermal Dysplasias – This is a comprehensive and wonderful resource for any kind of dentist treating ectodermal dysplasia. It provides guidelines for treatment at various ages.
  • You might also take applicable articles from our library. We have numerous articles that go into more detail on how to treat the various symptoms. Download and print the articles that apply to your situation.

It’s also useful to bring the following:

  • A letter of diagnosis, if you have one
  • Genetic test results
  • Any other medical reports you may have
  • Pen and paper to take notes
  • A list of all questions you have
  • A book or toy to entertain your child if he or she is with you
  • Snacks in case you have a long wait
  • Your calendar – This is helpful for scheduling any future appointments.
  • A friend or family member – Having another person to listen or to take notes will help you when you are dealing with complex information.

 

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Organizing Medical and Dental Information

It is a good idea for you to keep your medical information in a personal file. People tend to change physicians more frequently as jobs and insurances change. You may choose to enter medical or dental information in a laptop, or keep hard copies in a notebook or binder. Dating all of your entries will make for more useful records. And as with any important information, if you save it to a computer, be sure to have a backup file. This information will be especially helpful when a new caregiver is involved. As a starting point, you’ll want to keep track of the following:

  • Results of various tests
  • A listing of allergies
  • A listing of medications and dosages
  • Names and phone numbers of your medical and dental care team
  • Health information, hospital phone number, social security number, and insurance information
  • Records of what was discussed during a medical visit/phone conversation and by whom
  • Notation of changing symptoms
  • Copies of your medical records.

You are legally entitled to copies of your records from doctors or dentists, but you’ll need to follow the organization’s policy for requesting them. Frequently, there’s a charge for these copies. But by keeping all records in one place, you can easily share these with other health care providers that you may see in the future.

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