This morning Derrick and I took Jordan to Helga Toriello, the geneticist in Grand Rapids. We met with a genetic counselor for about 45 minutes going over the paperwork we had filled out and answering many questions about our medical history. She wanted to know everything about Jordan's pregnancy and our other children as well as info on our family medical history. During this process she mentioned that the chromosomal testing came back normal. We had not heard that until this point and while their was some relief, we still wondered what was going on with our baby girl.
When Dr. Toriello came in, Jordan was sitting on my lap. She stood and examined her for quite a while making comments about features she notices and asking questions about things that had been brought up by other doctors and specialists. Some she agreed with, others she dismissed. She saw the Simean Crease on her hands, the extra padding on her palms and examined her heels. She said her jaw didn't seem recessed, but was rather short, which she said was similar to mine. She checked the measurement of her eye-spacing and identified that as normal - in fact she said she had Derrick's eyes. She was most intrigued by her brow-line. I'm not exactly what she saw, but it was the most prominent facial feature that she focused on.
Dr. Toriello felt that some of the small stature and delay in development may be a result of the lack of nutrition that Jordan was receiving. She did however, want to examine the pathology report on the small placenta because she felt that there could be a connection to that, her intra-uterine growth restriction, and her current small size. She was leaning mostly on a chromosome disorder called UPD, Uniparental Disomy. From what she explained and what I have read online, it basically means that on one of Jordan's 46 chromosomes, she inherited an extra chromosome from me. A normal baby receives one chromosome from mom and one from dad. If Jordan received 2 from me for a specific chromosome (they mentioned 7) and 1 from Derrick, then at some point tried to correct itself and got rid of the extra chromosome, but got rid of Derrick's and not the extra one from me, then she would end up with what's called maternal UPD7. This is most commonly associated with severe growth restriction.
We now have to wait for the report from Dr. Toriello in the next few weeks and see what happens with Jordan in the next 8 months. We will then follow-up with Dr. Toriello and see what kinds of improvements Jordan has made now that her nutritional levels are where they should be. If we feel she has made up significant ground in growth and development, we may not pursue any further testing. If we feel that Jordan is still significantly behind in development and still considerably small in stature, we may process through the testing for maternal UPD. This would require blood samples from Derrick, myself and Jordan. Essentially we will be testing paternity on the chromosomes that they feel may be affected. If one of them doesn't possess any of Derrick's genes, we have maternal UPD.
One of the biggest things Dr. Toriello pointed out was that she didn't feel that the results of these tests would have any impact on Jordan's current treatment. More than anything it would identify what to expect in her future growth and development.
I suppose I should be thrilled that we ruled out several of the chromosomal disorders that I have spent hours researching and wondering if Jordan had. Unfortunately, I guess I still feel like we are floating around without any solid answers. I am relieved that there seem to be no strong indications of anything that will have a HUGE impact on Jordan's life. The strongest thing Dr. Toriello indicated was that she might be small in stature. As a female, Derrick and I are less concerned that she might be extremely petite. We keep joking that she might be a fabulous gymnast because she is extremely strong and flexible and is packaged in such a small bundle of energy! Can't you just see her flipping herself around on a gymnastics mat??
Thank you all for your encouragement and prayers. Please continue to pray for Jordan and our family as we may not have SOLID answers for many months to come. Thank you for being a part of this journey with us and I will continue to keep everyone updated through this blog.
No comments:
Post a Comment