The morning started with Jillian waking up with a 101.7 temp, a respiratory rate over 60 and nosily breathing. We started a neb right way and gave her Tylonal. Jilli and I had spent the night at my parents because my mom came with us to genetics. Our plan was to go to the really cool park in Franksville however fevers equal no park. Jilli slept off and on all morning. Around noon we headed out towards Milwaukee. We hit bad weather along the way. There was a lot of rain and our phones kept going off with alerts.
We got to genetics and ran through to down pouring rain into the building. We went up and and got checked in. They took her back and weighed her. Then the genetic counselor came in and we went over a lot of info and she did a developmental assessment.
Then the doctor came in. He said that Jillian has too much going on for the to all be coincidence. He said that no super common disorder jumps out to him so we are going to go looking for less common things. He is taking a 3 tier approach:
1. 5 very large viles of blood, urine collection (still trying to get her to pee in a bag...) and a sweat test (which will be done Monday morning)
2. MRI and Kidney ultrasound
3. Muscle biopsy and genetic sequencing
Based on results from each tier we will decide what the best next step is. They want to move quickly. We see them again in August but they will be contacting us over the phone before then to discuss test results.
I was excited that someone is really listing to us and looking for a reason not just a band-aid. He really listened to us and heard what we had to say. Thank you to everyone who was praying for our appointment!
The part that hit me hardest was the developmental assessment. The are two words that are blaring... no screaming at me off of her after visit summery "Developmental Delay." That statement kills my heart. I know it is true but as someone with a special ed degree having your child diagnosed is a hard hit. They said that she functions at a 10-12 month old. I know they are right. She turns 17 months tomorrow. That puts her 6 months behind. For a child who is less then a year and a half old a six month delay is large. They said that she needs therapies in multiple areas. Luckily I had spoken to Birth to 3 again on the drive there and they are coming out Monday to do a comprehensive eval.
He also looked at her ears while she was there. She had been pulling at the one all day and since she had a fever I thought it might be her ears. He said the bottom of one looked a little red and the other one was too full of wax to see. He said that if she still had symptoms in the morning to take her to the doctor.
After we left the genetics clinic we headed over to the lab. I have decided that the lady who drew Jillian's blood yesterday is amazing! One prick, no digging, easy! This woman should make a lot of money.
We then left Children's and headed to our house. As we were getting off of the interstate onto hwy 12 the tornado sirens started to go off. I then debated to head over to the day care or keep going. The sky looked better south so we kept going. We got to Lake Geneva and the sirens were going off again and there was talk of rotation in the clouds in Lyons and Lake Geneva so we decided it was best to get off the highway just as it started to hail. We ran into the Piggly Wiggly. Once the storm passed we headed over to Pizza Hut to pick up our order. Then we headed to the house and ate dinner. Jillian's temp had slowly gone down during the day but was still needing nebs. In the evening she crawled over to her rock-n-play and tried to get in. For Jillian that is a sign that she needs a neb. She always sits in her rock-n-play when she takes a neb and it is weird but she is getting to the point when she knows when she really needs one.
During the night she was up a lot with either coughing or the thunder. It was a long night.
She got up this morning a still needed nebs and was coughing so I decided to call the nurse practitioner. We got there and she said that her ears looked good. She thinks she is pulling at her ears because of her teeth. She had one molar come in Friday and is working on a second. She has 4 more teeth on their way too. Her lungs have a little rattle and sound irritated but not pneumonia. It is either a virus or from the pool water she swallowed. She does not think that she needs antibiotics right now. She looked at her mouth too. Jilli still has thrush. We are going to try a different med, however after we left the nurse called and said that the NP figured out after we left that it can have a side affect with one of Jillian's GI meds so she wants to call GI before she starts her on the med. She also said that she is really interested in the genetic test results because it might point to why we can't seam to get rid of Jillian's thrush.
So 2 doctors in two days. Thankfully each of them has a plan for how to help Jilli.
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| Sick Jilli |
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| All of the tests they ordered yesterday |
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