austin trip

Today was our big trip, we traveled to Austin to see the geneticist.

First off thanks for all the well wishes on the trip….my worry about the new area….i have no idea why I was worried, once we got there it was a easy find and traffic wasn’t bad…maybe im just having flash backs from our nicu days in Houston, but Austin was a walk in the park!

We even managed to do a lil strolling in the stores and have lunch after. The clinic was great, very kid friendly, toys everywhere and since I had ALL the boys it sure was nice to have them somewhat entertained. The doctor was awesome! We were very impressed with her knowledge, and her kind and caring personality. We had a very deep discussion of both my side and Harold’s side of the family and zachs healthy history, luckily I brought in all of the records I personally keep for zach, as it was helpful to go thru the discharge summaries.

The doctor was quite shocked that during our nicu stay at s&w we didn’t receive a lot of the imaging, and things she thought we should have…and I agreed with her, I told her how we had to fight just to get him a hearing test prior to leaving and weren’t able to get a eye screening, about how the doctor referred to Zach as “a grow and feed baby” and basically avoided us at any cost, about how I had to coax the doctor to say he had scoliosis and not just “a curve of the spine” so I completely agree that our nicu doc at the second hospital failed us and failed zach. Had he had a follow up EEG or MRI done on his head there like it was requested by TCH when he transferred his brain atrophy would have been caught sooner, his seizures maybe sooner, and the blood possibly sooner…but anyway back to today…

After going over everything with a fine tooth comb, she began to examine zach, she felt his head, for any bumps or so forth, she called it “f….?” and said hundreds of years ago it was a procedure done to check for illnesses or something. Lol she placed zach on the exam table and looked at his back, his stomach, feet and hands, I noticed she looked at his hands quite a bit, then she measured his head and length and weight. She said that though zach is a big boy, most of it feels as though its fat, and suggested with him being hypotonic that we watch the calorie intake by gtube, I explained that we had 2 specialists who want him to loose weight and one who wants him to gain, so it’s a struggle. Zach’s head measured in at 3% on the charts and with correcting his age for being a preemie it was 5%. Zach I noticed is becoming a lil anxious at these appointments, as soon as I place him on the table he begins to look worried, but she talked to him and played and he quickly cheered up.

Once she was done she told me that the pads of his hands were a bit concerning to her, I had previously told her about the research ive done and the pallister-killian syndrome (sp) affecting the 12th gene? And she told me his hands could be revealing mosaic tetrasomy , when I asked her what this ment she simply said “mosaic just means a mix of good and bad cells…some affected with the problem and some not” then she said “pallister-killian syndrome is a mosaic tetrasomy” she explained that she was going to write up a list of tests to begin with and then we would meet back in 2 months to see if we need/want to do more testing. When the nurse came back in to give me the paper with the tests on it I also noticed the diagnosis’ that was listed, the doctor had made a few of her own, though not a surprise, but its officially now in black and white. The diagnosis’s are….CDH, Scoliosis,Cryptorchidism (undecided testicles) microcephaly (small head) and severe global delay. While im not happy or pleased to see any of these, im ready for answers and ready to start a plan. The bloodwork that was drawn today for the research group in Houston, both me and zach gave blood. I was worried about how it would go with zach and his veins…the nurse got him in one single ****! I was amazed!!!! The blood work was also for the following tests…
Chromosomes, fragile x dna (since mikey has asperger’s and chance also possibly) T4,TSH,serum amino acid, and she ordered a renal ultrasound to be done at the clinic here for zach. We were told they normally do not call for normal results but we can also contact them for the results in 20 days.

After we got home and I napped, and napped…. I looked up mosaic tetrasomy and found mosaic tetrasomy 12p, pallister-killian, one of the links I found actually noted that brain atrophy was a symptom of this, as well as sparse hair on the sides…giving zach that “rooster” hair, diaphragmatic hernia, GERD and others….so the fact that it is all listed there and that “his hand pads are concerning” tells me I wasn’t to crazy to think there may be something else going on, and if the answers come back negative that would be great, but it isn’t a far reach. alot of these genetic tests are done with blood, but many need biopsies to confirm, either skin or muscle, the disorder...so if the blood tests shows something as a possibility we then move on to possibly a biopsy to get the final result.

As always, Zach was a happy smiley baby, who caused a contagious wave of smiles thru the day. That lil boy sure can wrap the world around his finger. Not sure why we were picked but we sure were given a blessing with zach. Were so greatful.

Once we finished up there I thought of a conversation with another doc, very well meaning I know, but he told me he didn’t see any reason to see a geneticist for zach, saying “what will it change” and no it wont “change” anything, but it sure will be good to know what were dealing with, if its something mikey and chance may carry a trait for or be able to pass down, to help determine a plan of action for zach. In the end even with the grimmest outcome, its up to God and Zach, not a textbook portrayal of how the diagnosis will play out. Zach has proven himself so many times, he isn’t about to “settle” for anything. our follow up wont be until 28th july.