Monday, April 4, 2016

Another Diagnosis

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.

5 comments:

Anonymous said...

So sorry you have this puzzle to figure out. It's a little discouraging when things like this don't have definitive traits and prognosese. You are a positive strategist, and you'll figure it out as you go. I hope the other difficult issues that have been presenting in other daughters are finding solutions too. Praying for you and the girls.

Teej said...

I am sorry you are dealing with the many unknowns (and knowns) of a rare genetic diagnosis. It can be so very difficult.

My husband and I just had an appointment with our genetic counselor today that left us with probably some of the same feelings you are experiencing, though our situations are quite different. I have had six pregnancies. Two have resulted in our living children. We have also had three first-trimester miscarriages (two caused by confirmed chromosomal abnormalities), and we just lost a baby at 24 weeks pregnant on March 19. That's what we were there to discuss today. It had been suspected that the baby we just lost had some chromosomal or genetic abnormalities because of a few unusual things seen on ultrasound. However, the genetic counselor and all the specialists that we saw told us that they did not think it would be anything fatal, since most things looked pretty normal. (I did not have an amnio.) Unfortunately, the condition the baby had WAS fatal. It is called triploidy. The genetic counselor expressed over and over today how unusual our situation was for the baby to have looked so normal and to have had such a normal growth pattern but to have had this condition. She also expressed how unusual it was for us to have had three different confirmed pregnancy losses caused by three different and unrelated genetic conditions (the others were trisomy 4 and Turner Syndrome). Basically, we are an anomaly. Our situation can't be explained. They have no answers for why we are prone to having fetuses with abnormal numbers of chromosomes. They can't explain why our triploidy baby was so large and well-developed compared to other triploidy babies. We know what each baby had, but we don't know why. So on the one hand, we have an explanation for each loss. But on the other hand, we don't have an explanation for the big picture. I like our genetic counselor. I think she is doing her best to find us answers, but they just don't have the answers yet for our situation. It is hard to be "an anomaly."

Hmmm, I guess I have hijacked your comment section to talk about myself too much. But I just wanted to let you know that I understand a little bit of what you are going through. I hope you can get more answers about Jie Jie's situation so that she can reach her full potential. It seems evident from your blog that you will do everything you can to make sure that happens. You are a great advocate for your daughters.

Penny said...

I've been wondering if you would update. I'm so sorry you received this blow. You are already dealing with so much. Thoughts and prayers to you and your family.

Joannah said...

I'm so sorry for JJ and you. It must be overwhelming. ((hugs))

Sarah Doodle said...

Ive been reading yiur blig a while now: you are a hero to me. Hold on and know what an inspration you are