Genetic Testing Has Begun

Today we added Genetics to our team of doctors for our little princess. I like the team we met today. Not only do they seem good, but they seemed to want to help figure out what is going on with her. What stumped them the most today is the fact that not only does she have the laryngeal cleft/GI motility issues (along with the high palate) but also she has symptoms of interstitial lung disease.

The most perplexing issue for them without my having brought her records (something I totally forgot to do this time) is what in the world caused her rapid respiratory decline in the NICU. What is it that caused her lungs to keep having pneumothoracic eruptions? Why did she require four chest tubes within less than 24 hours of birth and almost require ECMO? She started out with good APGAR scores then suddenly declined. This is not normal for a 33 weeker, especially one that was 5lbs even.

We talked about some of the syndromes that she had either been tested for or we had discussed but she did not hit enough symptoms to do genetic workups for. She was tested for CF several times, those came back negative. PCD Primary Ciliary Dyskinesia, (a pulmonary disorder) came back negative. At one point when Ellie was an infant we discussed VCFS as a possibility. Once again she did not hit the two biggest issues, one specific heart condition, and cognitive delays were not enough.

The genetic doctors were not happy she was never evaluated for the seizures she had as an infant and toddler. They also were not thrilled about the fact that genetic wise she was not worked up because due to the cluster of diagnosis list, she was not supposed to live very long any way. To this point Ellie has surpassed every life expectancy we have been given for her. Because of this we have learned to live each day as a blessing and tried to treat her as we would any of our other children. We have worked to give all our kids as normal a life as possible because each one is a true blessing for us. This team is thrilled that she is doing as well as she is in school and we have a dance teacher that not only will let her be in her classes, but also is accepting of her special/medical needs and tolerates her absences as needed. I was also told to tell her dance teacher thank you for them for letting her dance with her. Apparently, this is rarely found in dance teachers and even more rare in good dance teachers.

Today proved to be a perfect day for this appointment too because she was having a very sleepy day. One of those days where we just could not wake her up no matter what we did. She sat while sleeping on the chair scale this morning. I picked her up and carried her to the exam room where she continued to sleep. Ellie slept while I went through with the resident genetic doctor about everything. He did a basic exam, then left.

The main doctor came in, we spoke more, and then she examined her again. Ellie slept through almost all the exam. What surprised me was she slept through her reflexes being taken, the sharp tools rubbed on the bottom of her feet and up her legs. Finally, as they were sitting her up for the final part she was waking up. Groggy and sleepy eyed, Ellie sat and finished the exam.

The genetic testing today started with blood and urine work. While much of this will not come back for up to three months, it hopefully will give us a start where to look.

They are starting with a specific genetic disorder in mind that causes severe GI dysfunction and laryngeal clefts. There are other issues to rule out as well. Tests for mito and metabolic disorders were also started. We will see what road these tests lead us down.