Trying to piece-meal our story together is proving a challenge, so I will just have to start from the beginning.
Silas is the sibling to our two older daughters, both products of complicated pregnancies that resulted in I.U.G.R babies, lots of bedrest, and high blood pressure. The end result produced two AMAZINGLY BEAUTIFUL girls ages 5 and 7 at the time of this writing. Each had a small set of issues, typical of low-birth-weight babies. Each follows her own growth curve, and each has some features or anomalies that they share with their affected younger sibling, our dear froggie man.
Silas' pregnancy and birth was similar, though he was found to be footling breech after a failed induction. We had an emergency c-section as a result. He was unable to suck, swallow, breathe and was already on a feeding tube (NG) in the nursery once I was able to see him. He was moved to the NICU nursery after some bradycardia, temperature regulation, and oxygen issues. He was released from the hospital at 13 days old, the last 7 spent in the NICU. He came home taking a bottle, though poorly.
The short version of all this is that he has been in and out of the hospital for repeat respiratory infections and one apparent life threatening event. He also has seen multiple specialists and receives early intervention through our local CDSA chapter.
He is currently followed by the following: Neurology, Gastroenterology, Urology, Genetics, and we await appointments for consultations from Pulmanology, Ophthalmology, and Audiology.
He has the following conditions, disorders, signs, and symptoms: microcephaly, GERD, abnormal involuntary movements, reactive airway, apnea, congenital microphthalmia, ptosis, micrognathia, sacral dimple, global delay, stiffness in lower extremities, narrow (and furry) ear canals, high palate, short philtrum, tight frenum of upper lip, left kidney hydronephrosis grade 1, mildly small lower set and misshapen ears, broad nasal bridge, short stature.
His karyotype: arr 2p11.2 (86,,175, 184 - 89,126, 291) x1 (GRCh37/hg19 assembly).
2.95 MB Interstitial Deletion
And yet, even with all of this he is doing remarkably well thanks to Early Intervention and a proactive mama who doesn't take no for an answer. I think sometimes I drive the doctors insane in my quest to understand and manage what is happening with my son. But hey, it is my persistence that got us this far. We actually have a REASON for all the above stuff, that just a few days ago had us scratching our heads and running around blind. At least now, we can begin to connect the dots.
Silas is a sweet little boy with the softest touch, most contagious smile, and brightest blue eyes I have ever seen. People are drawn to him. And while he cannot crawl and his only form of language is grunts or cries or twists and turns of his face, he is very well loved and understood. We look forward with hope and awe at all our son has accomplished so far. NEVER give up, that's our motto.
Silas' gene map of deletions (1 copy)