I've started this post many times, deleted some, then all of it. There's no easy way to do it. On top of all her physical special needs, Jie Jie has an ENTIRE PAGE of genetic "changes." This is extremely rare, nearly unheard of.
A little about genetics from KidsHealth.org...
"A person can have changes (or mutations) in a gene that can cause many issues for them. Sometimes changes cause little differences, like hair color. Other changes in genes can cause health problems.
Mutations in a gene usually end up causing that particular gene copy to not do its job the way it normally should. Since we have two copies of every gene, typically there's still a "normal" working copy of the gene. In these cases, usually nothing out of the ordinary happens since the body can still do the jobs it needs to do. This is an example of an autosomal recessive trait.
For someone to have a recessive disease or characteristic, the person must have a gene mutation in both copies of the gene pair, causing the body to not have working copies of that particular gene.
Genes can be either dominant or recessive. Dominant genes show their effect even if there is just one mutation in one copy of that gene pair; the one mutation "dominates" the normal back-up copy of the gene, and the characteristic shows itself."
Of the entire list of gene changes that Jie Jie has, about half are autosomal recessive, meaning she doesn't have the syndrome.
That brings us to the top half of the list of changes. Essentially, the top three changes cause conditions that have over-lapping traits, but one really matches her and it's autosomal dominant. It causes moderate to severe intellectual disability and expressive and receptive language impairment and about a dozen other things that Jie Jie has, as well as a few that she doesn't have (such as dysmorphic facial features). This condition is extremely rare, but well-known in genetic circles.
So, the big question is, "What does this mean for Jie Jie?" It means that there is a reason why she keeps falling further and further behind her same-age peers. There's a reason why she struggles with speech and auditory processing. There's a reason why she can't make sense of days and weeks and months and time and the relationship between numbers and why she can't learn what odd and even numbers are. It also explains why her short-term memory has a few glitches and the problems that brings. And so very much more. Her severe physical disabilities complicate things further because she doesn't have the intellectual ability to care for her needs and make medical decisions for herself.
As of right now, it's believed that Jie Jie's physical disabilities are separate from her genetic disabilities, however, in a few years, scientists may have made discoveries that connect them.
On the positive side, she is still making progress in many areas and no one knows what her potential is. She is creative, caring, curious and joyful.
There's so much more to this than I can share. It's a very hard road. I'm still trying to wrap my head around it.