Hi. My name is Virginia and I am affected by Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome. I am 46 years old. In addition to being a wife and mother of three amazing kiddos (one bio, two adopted), I serve in several volunteer roles including in ministry, at a food pantry, and as a family liaison for the NFED. Our family was one of the original families at the first annual NFED conference.
When I was born, not much was known about the ectodermal dysplasias and I was initially misdiagnosed with epidermolysis bullosa and my Mom was asked if it was possible she had any venereal diseases which could have resulted in the skin lesions I was born with. My sister, Denyse, was born a year (and 3 days) later with a cleft lip and palate. We both received our official diagnosis of ectodermal dysplasia soon after. We were the first officially documented cases of AEC in either family line. That said, family genealogical research yielded one story that said about 80 years before I was born, there was a female child on my dad’s side of the family that hadn’t developed any teeth at the age of three. Her gums were cut to encourage her teeth to come in. She died shortly thereafter. My sister has 3 AEC affected children, and I have one AEC affected child.
As a child, I had chronic skin erosions on my hands and feet, and sometimes on my scalp. I also had hyperpigmentation on my arms and chest. The hyperpigmentation of my arms has faded, but some remains on my chest. I rarely develop open erosions on my hands unless I use certain cleaning products. My feet do still occasionally crack and develop erosions.
My fingernails and toenails are atypical. They occasionally split or peel.
As a child, I didn’t sweat which resulted in overheating. I did start sweating minimally after puberty and can generally count on one hand the number of times I break a sweat in any given year. My ability to tolerate heat improved with age and the accompanying wisdom to take necessary precautions.
I’ve always had sparse scalp hair and generally keep it shaved. I choose not to wear a wig because they are hot and scratchy (in my humble opinion). I have one eyelash (left upper lid), which randomly falls out and regrows. I do not grow much body hair at all, and generally pluck a few from my knees at the beginning of shorts season.
I do not have all of my tear ducts, though if pressed, I wouldn’t be able to tell you which are missing. I’m uncertain if I had them and they scarred over, or if they were congenitally absent.
I had no visible clefting, but had a speech delay and did not develop intelligible speech as expected. At age 5, it was discovered that I had a submucous cleft palate when one clinician ran his finger across my palate. I had a pharyngeal flap surgery to repair it. My post-surgical speech showed dramatic improvement, but I still required speech therapy through most of my elementary grades for nasal speech.
I had only 8 permanent teeth and received my first overdentures at the age of 8. By age 16, I used a full upper denture and lower partial denture. At 16, I had a Lefort 1 osteotomy with maxillary advancement with grafting into the upper gum. I also had a mandibular reduction at that time. The maxillary advancement had to be repeated just before I turned 18 because I had an unexpected growth spurt. I continued to wear a full upper denture and partial lower denture until 2018, at which time, I had zygomatic and mandibular implants and received implant supported dentures.
I had multiple sets of ear tubes growing up throughout my childhood and into adulthood, the last set of which dislodged when I was 44. I have opted at this time to leave the ear tubes out unless they become necessary. As such, I do have a mild to moderate conductive hearing loss bilaterally, but my hearing is functional at this time.
In addition to atypical nipple-areolar development, I had bilateral axillary accessory breast tissue. I did have the breast tissue removed from my right axilla in 2018 due to development of lump, which was determined to be benign following removal.
I have a urethral stricture and have had to have urethral dilations periodically since childhood.