Primrose Syndrome Affects Only Fifty Children Worldwide

Sydney Miller, born in the UK in March 2020, has an extremely rare disease. Newsweek recently carried a story about Sydney and her illness. This little girl captured the hearts of so many Facebook followers that her mother set up a special Facebook page for Sydney’s medical updates.

Like many other babies with a rare disease, Sydney began life as a normal baby. Sydney’s parents, Stacie age 36, and Stuart age 47 own a wedding car service in Dunbar, Scotland. They have five children.

Her mom said that Sydney did not show signs of being anything other than a normal baby born just before the beginning of the COVID pandemic lockdown.

The first indication of health problems began when Sydney was unable to open her eyes. Her doctor diagnosed Horner syndrome, which is one brown eye and one light-colored eye. Horner syndrome is usually an indication of an underlying illness.

A series of tests followed. One of the attending physicians had just been to a seminar on Primrose syndrome and recognized Sydney’s symptoms immediately. Yet the disease is so rare that none of the other doctors had heard about it. Primrose syndrome was discovered in the 1980s.

Symptoms of the disease gradually began to appear. At 2 ½ Sydney is unable to speak. She requires hearing aids because her inner ear has not fully developed. At twenty pounds, her weight is similar to that of a six-month-old baby. Sydney is unable to crawl or walk. Her mom must carry her.

After an MRI scan ruled out neuroblastoma, genetic testing began. The doctors discovered a pituitary cyst. Sydney will, in all probability, require hormone therapy as she gets older. Currently, she requires G-button feeding (gastrostomy).

A list of Sydney’s symptoms is as follows:

  • Primrose syndrome
  • Horners syndrome
  • Harlequin syndrome
  • Underdeveloped brain prior to birth
  • Pituitary cyst
  • Abnormally formed/large head
  • Bilateral loss of hearing
  • Development delay (global)
  • Non-mobile and non-verbal

Sydney has just begun care at an additional needs facility being attended by an occupational therapist and an on-site physiotherapist. Sydney begins nursery school when she turns three.

Just as children with Down syndrome, Primrose syndrome children bear unique physical characteristics. There is minimal research on such a rare disease. The main symptoms are scoliosis, autism, and muscle wastage.

Yet Stacie will tell you that Sydney truly lights up the room with her sweet, innocent smile.

Shaving Sydney’s Hair May Save Her Life

A decision was made to shave Sydney’s hair. When Stacie noticed Sydney’s thinning hair, she discovered that Sydney had been pulling at her hair.  That posed a danger when her hair caught in her feeding device. It will be necessary to shave Sydney’s long hair to prevent her from choking.

This and other actions such as screaming and banging her heels are considered “looking for feedback.” Stacie can only hope that this behavior eventually stops.

Sydney Travels Too

Stacie makes sure that Sydney does not miss out on the family outings. Sydney is included in many of their activities including a trip to Turkey in July.

The other children in the family are Carson age seven, Pree (age twelve), Bradley (age fourteen), and Mackenzie (age fifteen). Sydney has been to music festivals and the cinema with her siblings.

The other bright light on the horizon is that the family is looking forward to moving from cramped quarters. The home has three bedrooms that are not suitable for a family of seven plus Sydney’s equipment. Not to mention the twenty-one steps leading to the front door.

Stacie agrees that the added burden of COVID made their situation more difficult. Then she turns to Sydney and is cheered by her radiant smile.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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