Back in July 2019 we entered into further studies regarding Robert's chromosomes.
The Friday before Robert's stomach surgery we received a call that our genomics team has some test results to go over while we are in town for his surgery.
We were able to come in and meet with his team prior to his procedure. Dr. Schimmenti said have you seen the results? I responded with... I have, but I do not know what they mean.
She explained that there was a match that came back from the further genetics testing that was performed. She said this is a very knew medical condition, just alone in 2017 they discovered it and only a few dozen people have been diagnosed with this.
It is called PBX1 which is a mutation in his 1st chromosome.
PBX1 is still knew for us. This mutation was not passed down from Matthew or I but rather it was a random occurrence that took place in the pregnancy.
Patients with this chromosome mutation have defects with their heart, kidneys, ears, stomachs, developmental growth and a few other things.
For Robert it causes the following complications which he has been diagnosed with.
Hypotonia (Low Muscle Tone) Congenital Glaucoma Developmental Delay PhysiologicalMacrocephalyNoninfective Disorders Of Pinna BilateralCongenital Sacral DimpleEctopic Anus
Hernia Inguinal Right (Corrected)
Abnormal Chromosome Analysis (PBX1)
Pelvic Kidney
Intestinal Malrotaiton (Corrected)
He is also the most smiliest baby ever and beams with a one of a kind joy that touches our hearts every day. He also sleeps amazingly 8pm-6am, which is impressive :)
We now have a diagnosis and for a while we were told that we didn't know why Robert had complications.
We do know that Robert is an absolute gift from God. We have the honor to be his parents and it is the best thing in the world because there is this one of a kind joy and love that comes from a child with special needs.
