This is what we're working on today...
A bit of background if you're new...
Abby was diagnosed prenatally by an abnormal AFP screen and subsequent amnio with chromosome 18q- distal 21 breakpoint mosaicism. The amnio tests skin cell tissue and her mosaicism was found to be 40%. In layman's terms she is missing a large portion of her 18th chromosome in 40% of her cells. The rest are normal. She was delivered via emergency c-section due to interuterine growth retardation, breech position and low amniotic fluid, but showed up with no abnormalities to be found. At that point a myriad of tests were done to confirm the diagnosis, but only the blood test confirmed the initial testing. Yet, the blood test revealed only a 1% mosaicism. Translation: her blood tissue was barely affected with the deletion. At the time they recommended further testing by skin biopsy etc, but we opted to stop trying to figure out what her actual diagnosis was and focus on treating any problems that arose. At the time the doctors didn't predict any problems, but within months she slipped developmentally.
Before long we were over our heads in just trying to keep up with all the therapies and specialty doctors that we didn't have time to think about a correct specific diagnosis. It just seemed like another appointment with another poke that wasn't necessary. We took one trip to see the geneticist for appointment that was made at the time of her birth and decided they had nothing more to offer us that we couldn't find on the internet.
Fast forward a decade later... a lifetime of living as normally as we can with a large dose of abnormality. We've added two more girls... perfect chromosomes. We've attended a couple of chromosome 18 family conferences, but put them on the back burner as our Abby fell further and further behind even her "abnormal" peers. It was helpful to meet people who lived lives in medical facilities and new what iep were, but the ones who were trying to figure out the best way to get their child to read or make friends were so far ahead of us that at some point it ended up being more discouraging than encouraging.
We tried to sugar coat our reality for the outside world so we could fit in better, but soon realized we weren't fooling anyone and we might as well accept the glass box we were in and talk about it, so...
We started to talk and I started to blog. In the past two or three years I've connected with many families who can benefit from my experiences with Abby as much as I can benefit from theirs. I've started to read the posts in the facebook group and respond. We haven't braved anymore conferences as it would be a big undertaking now that our vacations are spent visiting family.
We've opted to make Abby as much a normal part of everything we do rather than dragging her from one medical facility to another. We've lowered our expectations and have decided to have her with us doing normal stuff in our community like other kids her age. She attends church with us and as many family and friend gatherings as she will tolerate. We have friends (personal care attendants) who make this possible and it works for us.
So... why are we looking for a more specific diagnosis now after eleven years?
Just over a month ago, we decided to add to our family and got pregnant, but at twelve weeks looked at the ultrasound screen to see our baby not moving. There was nothing which indicated a chromosome abnormality, but it got us thinking more about chromosomes. During this time there was a parent on our facebook site that asked if there were any other parents with low functioning kids and someone responded for him to look into the Pitt Hopkins group. I quickly was engrossed in the little bit of info there was to find for that syndrome, but was surprised to see that the kids had a lot of Abby's similarities both physical and medical and her breakpoint confirmed it.
We went for more "sophisticated" testing (called miro-array testing) a few weeks ago only to get back the same thing we did ten years ago... nothing. That's where we are today and that's why I'm writing. So much of what has been most helpful to us has come from other parents and other affiliations in our "like" world. So to what lengths do we go? What kind of tissue samples are needed to do furthers study? We're currently scheduling to see a medical geneticist at Gillette Children's Hospital in St. Paul, but wanted any input from anyone who has been down this kind of road before. So, her blood tissue shows a low mosaicsism, what tissue can or should we push to test without being too invasive?
Maybe if we can figure out the diagnosis than we can unlock some more boxes in her regular care? Maybe some of the things we've been through can help other parents with similar diagnosis?