NEW updates, "diagnosis", and more for Kya Rose

Kya Rose's Diagnosis:

Kya was born prematurely on May 18, 2020, at just 33 weeks gestation with an Imperforate Anus – Otherwise known as an anorectal malformation (ARMs). Anorectal malformations occur in about 1 out of every 5000 births and are classified by the type of associated fistula. Kya’s malformation resulted in a misplaced/missing anus and a rectovaginal fistula.

In addition, she has a rare anatomical abnormality to the origin of the Right Subclavian Artery resulting in what is referred to as an Aberrant Right Subclavian Artery or ARSA. In most cases, the right subclavian artery arises directly from the aortic arch distal to the left subclavian artery instead of originating from the brachiocephalic artery. This anomaly occurs in about 0.5-2% of individuals. In her case, it arises from the interior side of her descending aorta looping around her trachea and esophagus before entering into her right arm causing compressions on both. Essentially this is creating what is referred to as a Vascular Ring, except hers is lacking the ligamentum (ligamentum arteriosum) and is fully to blame on the route of her ARSA.

She also has an Atrial Septal Defect (ASD) and a Patent Foramen Ovale (PFO) – Both of which are holes within the septum between the left and right atria. ASD is a larger hole than that of a PFO and is considered to be a congenital heart defect as it is a failure of the septal tissue to form between the atria. A PFO only occurs after birth when the foramen ovale fails to close.

Kya was also born with preauricular skin lesions (tags) anterior to the tragus, one on the right side and two on the left. They are a fairly common anomaly (prevalence of 5-10  per 1000 births) and are believed to result from an imperfect fusion of the first two branchial arches during embryonic formation. In most, these lesions (either manifested as protuberant fleshy papules or superficial dimples) are considered to be very minor abnormalities, but in some infants, they are discovered in the presence of other malformations including heart defects. There is also a possible sparse connection between hearing loss and renal abnormalities, but the information is limited due to a small number of patience and a lack of appropriate comparison groups. As a precautionary, Kya will routinely have hearing evaluations and scans as she ages. This is another staple that warrantied for careful assessment and workup by a geneticist for a possible congenital anomaly syndrome to be completed.

In October 2020, she was discovered to also have a hepatic hemangioma called an infantile hemangioendothelioma IHH, and a coordinating mass (1.1cm) in the right lobe of her liver adjacent to the porta hepatis. IHH is a type of rare mesenchymal tumor composed of large endothelial-lined vascular channels in fetuses and neonates, yet is the most common vascular tumor of the liver in infancy. These tumors have substantial arteriovenous shunting which can lead to congestive heart failure, and although very rare (10%), some may undergo malignant degeneration into angiosarcoma rather than undergo involution and regression. Due to this, additional CT scans, Ultrasounds, ECHOS, and AFT blood tests (liver tumor markers) will continue to be completed every 4-6 months. Her next CT is scheduled to occur in late October-November 2021.

It was also discovered in May 2021, that she has small simple cysts within both of her ovaries. But, although she is very young, these are not completely atypical for her age group and are usually not of major concern. Sometimes, in very rare cases, these can become cancerous, or become large and cause ovarian torsion. She will also have ultrasounds completed to ensure these do not continue to grow every 6-8 months as a precaution due to her other diagnoses.

She was originally diagnosed with hypothermia and hypoglycemia but has maintained normal range levels since being discharged from the Children’s Hospital in June 2020. We will, although, continue to routinely follow up with Endocrinology every 3-6 months until they feel comfortable enough with her growth, insulin, and cortisol levels to only be seen every 1-3 years.

Most recently, in late September of 2021, Kya was discovered to also have a congenital malformation of her lacrimal ducts (tear ducts). She was originally referred to an Ophthalmologist for stent placement, but now she is being referred to an Oculoplastic Surgeon for a possible Double Dacryocystorhinostomy.

Kya was originally diagnosed with Axial Mesodermal Disruption Spectrum on October 28th, 2020 by her Geneticist, Dr. Schaefer. AMDS is an ultra-rare disease that includes anomalies and abnormalities of both VATER/VACTERL Association and OAV (Goldenhar Syndrome). Limited information is directly available about AMDS (AKA – Russell Weaver Bull Syndrome) and we were simply told to expect the unexpected at any point in time. On November 17th, 2021 Kya completed her WES Trio (genome testing) which we hope will provide us with more answers even if it means a change in her overall diagnosis.

As of today Kya has been through a total of 8 surgeries in her short 18-months of life, and will soon be having surgery number 9 to correct her congenital lacrimal duct malformation. We will also be traveling to Houston, TX beginning in late November to begin her cardiology journey at Texas Children’s hospital in hopes of correcting her Aberrant Right Subclavian Artery in order to relieve the troublesome breathing and feeding difficulties it is causing.

– – – – – > If you’d like to read the full details of Kya’s story, or follow along with her day-to-day appointments, check out her page on Facebook at:

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