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Located: Canada
Symptoms: Developmental delays, Kyphosis, Overgrowth, Polycystic ovarian syndrome

Eve was born 3 weeks preterm in August of 1999 after an unremarkable pregnancy. She weighed 6 lbs 8 oz and measured 21 inches in length.

During her first month, she slept approximately 22 hours/day. She was slow to latch during breastfeeding, but once she got the hang of it, she made up for lost time and ate heartily. In between feeding and sleeping she was growing steadily and would soon be off the charts for weight and height. This growth trend continued throughout her childhood and adolescence.

At birth, Eve had slight jaundice and presented with metatarsus adducts (mild pigeon toe). She was casted at 5 months of age for a period of 6 months and that was followed by 6 months of corrective footwear. She was walking independently at 16 months. Eve was completely toilet trained at 2 1/2 years and fully feeding herself by the age of three.

Whether it was her introduction to preschool or just coincidence, we started noticing many troubling issues that we hadn’t seen in our first child. In an effort not to compare our children, I think that we overlooked many things, but the preschool experience allowed us to witness a good cross-section of children at different stages of development, and so began our quest for answers.

At 3 years of age, these were some of her challenges: excessive drooling, slower rate of speech, stuttering, mild expressive and receptive language delays, mild intellectual disability, flat footed, poor balance and coordination, difficulty with fine and gross motor skills, ataxic movement, slight tremor in both hands, behavioral issues, difficulty self regulating, and a lack of focus and attention. She was diagnosed with developmental coordination disorder and began intensive speech and language therapy and occupational therapy. These therapies continued throughout adolescence.

Eve had persistent middle ear infections, was constantly on antibiotics, and suffered from sleep apnea and fatigue. At 3 1/2 years she had a tonsillectomy and adenoidectomy, which improved her balance and cleared up the infections and sleep apnea, but other issues persisted. She was always so tired, had low tolerance to heat, excessively craved food, and had ongoing yeast infections and skin-related issues.

Eve started what we like to call the cardboard-and-water diet (gluten-free, dairy-free, sugar-free, yeast-free), as well as taking natural vitamins and minerals, at the age of 5. She continued this regimen for 2 long years with little change except some of her skin issues had cleared up.

Following the natural diet route, we decided to try the medication

route. At the age of 7, she began taking 18 mg of Concerta daily for her focus and hyperactivity. Except for a couple of attempts to eliminate these meds (one 2-month trial, and years later a 2-week trial, and the odd dosage adjustment—all ending in disaster), she remains on 18 mg to this day.

When she was 8 years old, she visited Genetics for the first time. Sotos Syndrome was suspected but eventually ruled out.

At 10 years old, she had a follow-up to her baseline cardiac assessment and this resulted in the discovery of an atrial septal defect, which required the surgical implantation of a closure device and happened when she was 11 years old. There have been no cardiac issues since. She had been followed by Cardiology annually, but is now on a 3-year follow-up schedule.

Also at the age of 11, Eve was diagnosed with Scheuermann’s kyphosis through Orthopedics. She wore a back brace until the age of 14 for 20 hours per day. The initial curvature was measured at 42 %, but had increased to 88 % when it was last checked when she was 16.

Her tall stature and fatigue led her to be referred to Endocrinology at the age of 12. At that time, her bone age was 14. At 14 years of age, she began menstruating, but her periods were very irregular and painful. By 15 years of age, she was diagnosed with polycystic ovarian syndrome and began taking an oral contraceptive. She is still being followed by Endocrinology and recent bloodwork revealed a deficiency in vitamin D and very low iron levels. The low iron levels have led to hair loss and bouts of sadness, for which she is now taking supplements.

In February 2014, she had a follow-up with Genetics. Testing at that time did not reveal anything new. As we know now, Tatton Brown Rahman Syndrome (TBRS) was not described until March 2014, thus, she would have to wait another 3 years, when she would receive more genetics testing, to finally get a positive diagnosis for TBRS.

Eve loves to socialize and she is a fantastic friend. She is caring and compassionate. She helps around the house, takes great care of her pets, and participates in musical theater productions.

It has been an incredible journey of ups and downs. It has taught me the importance of respecting individuality, the need for constant compassion, and unconditional love. Eve is such a delightful person who shines light into the world and helps us to remember what it is to be human.

Written by Eve’s mother Michele.

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