Isla’s story as shared by her mom Heather on Facebook.
Isla was born 2 months premature at 31 weeks. My blood pressure went sky high, I developed pulmonary edema, became septic, and they took Isla by emergency c-section. Isla spent 5 weeks at Bryan NICU before they sent us to Omaha Children's. She had breathing issues that needed further testing. There, they found that half of her diaphragm didn't move like it was supposed to, staying in the "exhale" domed position, which didn't allow that lung to fully inflate. She was also diagnosed with laryngomalacia, which is swelling in the larynx and collapsing trachea. Genetic testing revealed that she has 2 genetic mutations, which neither of her parents carry. The PTEN gene plays a huge role in embryo formation, then it makes a protein that regulates cell growth. This affects things from cancerous cell growth, inflammatory response, tissue formation, immune responses, to inflammatory diseases. This is an oversimplification of what all it does, but PTEN mutations lead to an 85% increased chance of having cancer of some sort. SOS1 gene also has to do with cells differentiating, migrating, dying, and plays an important role in embryonic development. These mutations could have caused the pregnancy difficulties leading to the early delivery. They have never seen anyone with both mutations, and since it is typically a hereditary trait that neither Heather or Kyle passed to her, how she ended up with both was basically a 0% chance. I'll try to shorten her next few months after that: she had her G button surgery for feeding. She had a supraglattoplasty, which was where they removed the extra tissue in her throat. She then had a revision supraglattoplasty in February. The tissue keeps coming back (possibly a result of the PTEN mutation?), so they decided to do the diaphragm plication where they stapled down her diaphragm to allow the lung room to expand. She had to be reintubated though and was the most difficult intubation the pulmonologist neonatologist has ever done.
So we are at a standstill at the moment. The next step for this hospital would be a tracheostomy. This is obviously very invasive, and life altering. The dr has made a few calls and everyone directed him to Chicago. We have been trying to figure out if she has a reasonable chance of a newer surgery called epiglottopexy, where they basically stitch the windpipe to the back of the tongue to hold it open. We would hate to put her through a move like that, just to get out there and them tell us she needs a tracheostomy, then it is very hard to get back to Omaha, and we could be forced to have the tracheostomy done there, and be stuck in Chicago for the potentially long recovery period. We are waiting on things from insurance (the flight company won't go without payment guarantee), and waiting on Chicago to either accept or not. We were hoping for the dr in Chicago to give some reasonable insight as to whether she thinks Isla might be a candidate for the new surgery or not. So just a lot of waiting right now. That's why we have been so quiet, just not a lot happening. Isla is stable and comfortable with the tube, and we just hang out watching game shows and trying to work on a little development.
Please consider donating to help Baby Isla’s family during this very difficult and challenging time. She is a beautiful sweet girl and she needs all the prayers and help we can offer her and her family.
