Astor born 2017

Gender and year of birth

Male, 2017

Astor is now diagnosed!

Astor received a diagnosis of Noonan syndrome 12 (OMIM #618624) in 2021 after whole genome sequencing through the Karolinska Undiagnosed Disease Program. This was due to a de novo (new, not inherited) small duplication in the RRAS2 gene that leads to a longer protein with altered function. If you are interested in reading more about this rare condition there is information for health professionals here and for families here

Description

Tracheomalacia, have had mucus plugs in the lungs. Bilateral retentio testis. Inguinal hernia. Atrial septal defect (membrane in the left atrium). Abnormal anatomy pulmonary veins (the two pulmonary veins merge into one vein before the heart). Breeding difficulties. Selective eating, gastrostomy.

Symptoms / Signs

At birth - withdrawals and respiratory problems.
1 week - difficult to oxygenate and stored carbon dioxide.
Recurring difficult with oxygenation and breathing especially the first year with the slightest cold.
Mucus problems that arose after one year of age
Vomited a lot between age 1-2.
Has generally become sicker and had more difficulty breathing with colds than a "healthy" child.
Gastrostomy buttons break inexplicably.
Fever / subfebrile since autum 2020 without explanation.
Extra skin folds on the ear and under the foot.
Large head circumference (around +2SD)
Shorter than average (more than -3 SD)
Fairly short, wide and thick inward-facing feet.
Low-placed ears.
Inflated stomach.
Some developmental delay (first step at 18 months, started talking at 3 years of age).

Current Treatments

Inhale atrovent and pulmicort in nebulizer daily, if necessary ventoline. Pep mask and breathing exercises on trampoline daily.
Probe fed via gastrostomy button.
Preventive treatment with azithromax during the winter months.

Prior Treatments

Help with signs as support and after that support from a speech therapist.

Considered treatments

None

Previously Considered Diagnoses

Tested for cystic fibrosis on two occasions in 2017. After an extensive sweat test the suspicion was written off.
In 2019, CF was suspected again because tests on young children can be uncertain. After a urine sample that showed no abnormality, the suspicion was written off again.

Genetic Variants of Interest

Underwent a complete genome sequencing in August 2018 but without deviating findings. He was judged to have an unknown ultra rare syndrome with an unclear diagnosis.
Increased probability in Combined Ultrasound and Biochemical (CUB) screening for trisomy 13 and 18 (1:25). In early ultrasound, the femurs were short and it was difficult to see the cerebellum. Later ultrasound in pregnancy was without abnormalities.