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Located: United States
Aggression, Anemia, Astigmatism, Atrial septal defect, Confusion, Dental crowding, GERD, High pain tolerance for big pain, Intellectual disability, Joint hypermobility, Large overbite, Learning disabilities, Leukopenia with absolute neutropenia, Low muscle tone, Mixed expressive-receptive language disorder, Nystagmus, Overgrowth, Sensory processing disorder, Temperature regulation issues, Thin tooth enamel, Thrombocytopenia, Tricuspid valve prolapse, Trouble with fine and gross motor skills

Kira arrived into this world with a few difficulties. She was born full term via emergency C-section at 7 lbs and 20 inches long. She was evaluated for tethered cord due to a sacral dimple but otherwise looked and seemed healthy with an Apgar score of nine. Although we were never informed about the urgency of delivery, we believe it was due to her true knot in her umbilical cord.

Two days later on May 10, we noticed her hands and feet were very cold and tinted blue. She had several seizures and after we pressed the nurses harder she was tested and it was confirmed that she had hypoglycemia with a blood sugar level of 19. She was immediately given formula in addition to breastfeeding and put on a sugar IV for the duration of her 10-day hospital stay.

She was a fussy baby who would not lay flat. We would later find out Kira suffered from GERD and anemia. These issues were addressed with medication and have since been resolved.

Kira was late to hit milestones such as rolling over, crawling, and walking. She was a floppy baby with low muscle tone. She used a medical walker to balance her core and AFO bracing on her ankles and up to her hip on the left at one point due to joint hypermobility and instability. Kira attended The Progress Center where she began seeing an occupational therapist who worked with her on balance and strengthening her legs and core. They also addressed sensory issues that would later be diagnosed as sensory processing disorder.

In 2013, Kira was evaluated for seizures that happened at the end of breath holding spells and falls. No seizures registered on the EEG. In 2015, she tested negative for tethered cord despite a sacral dimple, leg pain, and incontinence. She was also evaluated for Ehlers-Danlos Syndrome due to her hypermobility and other related symptoms such as dizziness, translucent skin, and livedo reticularis. We have not returned to conclude that testing as of yet.

Kira showed signs of autism and was tested at Oregon Health & Science University (OHSU) at age five and was diagnosed with global developmental delay, generalized anxiety disorder, and mixed expressive-receptive language disorder. Her second testing in 2019 would conclude that although she met the cutoff for autism spectrum disorder, they believe ADHD and intellectual disability are the cause of

her struggles. Kira functions at a three-year-old level.

In 2017, we did a basic metabolic test to check vitamin D levels and found that her white blood cells were low, and her neutrophils were especially low at a severe 450. This began our TBRS journey. We found an amazing oncologist at OHSU and genetic testing was shortly underway. Kira was diagnosed with Tatton Brown Rahman Syndrome in 2017.

In addition to overgrowth, Kira also has abnormal bone marrow activity that was found by performing a bone marrow biopsy. She is tested yearly for leukemia and myelodysplastic syndromes (MDS) on account of this.

At eight years old, Kira is almost 5 feet tall and a little more than 100 lbs. She suffers from dental trouble including crowding, canker sores, thin enamel, and frequent inflamed gums despite good oral care.

In 2019, her fatigue was addressed and she was found to have an atrial septal defect as well as tricuspid valve prolapse. Another amazing doctor at OHSU repaired her heart and she has not had trouble since.

Kira struggles with behavioral problems including aggression and self harm. She also becomes very confused and does not retain information easily. Things have to be repeated excessively for her to retain it. This may be due to her diagnosis of mixed expressive-receptive language disorder. Kira sees a therapist to help her learn to manage her emotions and attends speech therapy in school.

Despite these barriers she is excelling socially and academically in a moderate disabilities class. Kira is very determined and knows what she wants. She is very passionate and feels everything deeply. She is not afraid to speak her mind and be her quirky, unique self. She enjoys gardening, collecting rocks, drawing, and music.

We are happy to have found the TBRS Community online. It is a blessing to be able to speak with and relate to families who are going through similar experiences. This community is supportive and shows nothing but love and acceptance and we cherish the group’s availability and all of its welcoming members.

Written by her mom Aubrey

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