The Little Girl Who Could: A Rare Disease Biobanking Breakthrough Story
Wednesday, February 28, 2018
Izzabella “Izzy” Mendenhall, was born on 8/7/2010 with a rare genetic disorder – Oral Facial Digital Syndrome type 1 (OFDS1). OFSD1 is a multiple anomaly syndrome inherited as an X-linked dominant trait, caused by defects in the OFD1 gene, which maps to Xp22.2. Almost all affected individuals are female, since the condition is almost always prenatally lethal in males. Common manifestations, as the name of the condition implies, affect the face, mouth, and digits. Other common manifestations include the presence of facial milia (white spots) on the face and/or ears, brain abnormalities, and polycystic kidney disease that develops later in life. Hearing and eyesight problems are also often reported. Learn more about OFDS1 here.
The Little Girl Who Could
Until the age of 6 Izzabella, “Izzy”, could not walk or talk and had challenges with her balance. She understood what was said to her, but she was crawling and was in her wheelchair. She had difficulty talking and responding with words. In the last few years Izzy has made a lot of progress by receiving effective, collaborative medical and therapy care, while being supported by a loving family. Most of all Izzy has positive attitude and love for life. Izzy is like the “Little Engine That Could” not giving up and working very hard to overcome some of the major physical obstacles of her condition. She now walks everywhere and rarely uses her wheelchair says Kris, her custodial grandmother. She is starting to chatter more and more every week. “For years she could only make ‘p’ and ‘d’ sounds with her mouth, but now she’s up to about 15 consonant sounds. Her new favorite utterance sounds just like ‘joy’, which is ironic, because that’s exactly what she is!” Says her mom who added “Last fall Izzy had her 4th ERG [and]…The results were quite amazing. She is within normal range for her rods and cones! … There is a chance she will not face blindness. What a gift!”
Here is Izzy “The Girl Who Could” skating a few weeks ago
Even though Izzy is nonverbal, nevertheless she can be quite a spokeswoman, as the Courage Kenny Rehabilitation Center has discovered. Izzy was their feature story last year and on the cover of their 2017 Christmas Card Catalog. Izzy’s family joined the BBS Clinical Registry Investigating the Bardet-Biedl Syndrome (CRIBBS) to share her data and clinical information with scientists to better understand this condition and help other kids with this and related conditions. Izzy and her family have been consistently highlighting the need for the creation and curation of biobanks and registries for rare diseases, raising the profile of rare conditions and supporting the collaborative sharing of samples and data towards identifying potential treatments.
Article written by Kozlakidis Z; information provided by Rubinstein Y and the ISBER Rare Diseases Working Group; edited by Seiler C.; permission to publish kindly provided by the the Novetzke family. If you are interested in joining the ISBER Rare Diseases Working, please contact us by email at firstname.lastname@example.org.
Background on OFDS1
Facial manifestations of OFDS1 include apparent hypertelorism, underdeveloped alae nasi, and micrognathia. Oral findings include accessory frenulae (webs in the mouth), abnormal lobation or benign tumors of the tongue, cleft palate, and missing or abnormal teeth. The fingers tend to be short with occasional webbing between some of them, and on rare occasions, there may be polydactyly. The hallux is often duplicated, often on one foot only.
Diagnosis is often made at birth on the basis of characteristic oral, facial, and digital anomalies. In other affected individuals, diagnosis is suspected only in later childhood or adulthood after polycystic kidney disease is found. Diagnostic methods include direct sequencing of OFD1.
Treatment involves cosmetic or reconstructive surgery as well as routine management of kidney disease and seizures. Management requires special educational evaluation and support for learning disabilities, physical, occupational and speech therapy, medical and support devices.
The prognosis in affected females is variable and depends on the associated malformations and/or visceral involvement, severity, treatment, and the course of the disease.