Gloria

Written by Ashley Wells

Gloria was born in September of 2013. She struggled right out of the gate with breathing, needing additional suction, and spent most of the first hour of her life on the incubator machine. She struggled with feeding and vomited a lot in the early days. On her first follow up doctor visit after birth, the signs that all was not right began to show. Gloria had a "galloping heart rhythm," and that is when the fear set in for me. We then saw a cardiologist that said Gloria had some heart defects including Pulmonic Stenosis and Atrial Septal Defect. The doctor assured us that the problems would resolve themselves. The largest issue was feeding Gloria and we quickly ran into the problem of not being able to keep enough food down her to keep her going, and Gloria slid into failure to thrive. Then one of the scariest moments of my life happened on New Years Eve 2013. Gloria vomited and aspirated and stopped breathing. We could not get her breathing again for nearly a minute and I eventually manually suctioned her and got her breathing again. A tumultuous night in the ER later and we were back home with Gloria still not eating enough to gain weight and we were increasingly getting desperate.  Feeding was taking up nearly 15 hours a day. We called in the cavalry and I made a tough decision to leave my job as a teacher and move my family to Oregon so that we could be closer to Jennifer's (my wife’s) family. We put our house and car up for sale, I gave my notice and we were turning a page in our lives.  

Then on Valentine’s Day 2014, Gloria started to have Nystagmus (darting eye movements at her morning feed). Jennifer immediately called to get her into the hospital and Gloria was transported to the HMO Hospital in Oakland, CA. The doctors diagnosed Gloria with Partial seizures, put her on Keppra and kept her for observation. Then the seizures became increasingly more concerning, with longer and longer seizures. Finally the seizures topped out at about 10 minutes. I was ignorant of how damaging long seizures can be and if I had known I would have been demanding seizure rescue medications be delivered. Then without a second EEG her medication was changed to Phenobarbital, which masked the complex seizures that were developing. We stayed at the hospital with Gloria's condition worsening. I got the feeling that there was a conflict among the doctors as to how to handle Gloria's case. We had also sold our house and basically if we were discharged would have to drive Gloria ourselves to Oregon (she was too unstable to drive that far). In the end one of the doctors made a decision to transport Gloria via air ambulance to Doernbecher Children's Hospital in Portland, OR. That doctor saved Gloria's life and gave her a chance at a decent quality of life, and I still tear up knowing that doctor really put himself out on a limb to save Gloria. We boarded the lear jet and off we went.

The plane ride was nerve racking for me, but the pilots, nurse, and respiratory care assistant were awesome, and I am exceedingly grateful for them getting Gloria safely to the Children's Hospital. Once we got to the Children’s Hospital I showed the neurologist the . I could tell right away something was very wrong. My heart sank and I knew the second she ordered an EEG immediately all was not right with the world. In fact I, half felt, we were only going to be at the children’s hospital a few days given the push to discharge Gloria at the HMO hospital in Oakland...it would be another 3 months before we would go "home" for good. Gloria got another EEG. You know when two doctors walk in to give you test results you are not going to get good news. My heart sank as they told me Gloria has infantile spasms. I felt that ringing ear, you just got hit in the head feeling, and I just cannot put into words how devastating it was to hear this. I had actually looked IS up before when people had mentioned going to a neurologist, and I just remember not wanting her to have that just not that God, but there it is she has IS. I then had to tell everyone including my wife, and at this point I was not holding it together very well. The doctors immediately took her off Phenobarbital and said that they were going to start Prednisolone. I then began researching, burying myself in research articles and studies and trying to figure out what to do. I found that the three treatments that were used are Prednisone, ACTH, and Sabril. I looked at the success percentages of the studies and chose to do them in that order.

We decided to do Prednisone with vitamin B, because some forms of IS react to vitamin B. We were then discharged to the Ronald McDonald House in Portland, because we couldn't go far from the hospital. In the end we got the best surgeons doing Gloria's surgery, and they placed the gastronomy tube and did the fundoplication. Afterwards, Gloria gained a lot of weight, and now she is in the 50th percentile. We went home after the surgery and we have only had to make follow up visits and checks at Doernbecher since.

So how did we figure out Gloria had Cardio Facio Cutaneous Syndrome. Well as with most of this tale it is a long story, and it all starts with Insurance Company. We had known Gloria had issues for a long time and had seen a geneticist. They ran some tests.  She had a few mutations, as we all do, but nothing that stood out as a cause of all of Gloria's issues as a tiny infant. This is the kind of frustrating part, because lots of people think they understand genetics. Yet, genetics has changed so much in just the last decade and to be honest I get these looks when I say my daughter has a genetic syndrome--basically the looks and comments boil down to...you shouldn't have any kids.  The ignorance behind that is flooring. Anyone can have a random mutation syndrome (de novo), hence the word random. We all have mutations in our DNA it is part of the evolutionary process. Gloria's mutation just happened to be in a spot that was critical to development. Now back to the story. Then while we were in Insurance Company Oakland, in walks a leather jacket wearing "straight shooter" and he says he wants to run some genetics tests. I said sure I really want to know what is going on with her. For all those out there that are told by doctors there is not much you can do even if you find out what the genetic problem is I can tell you it was monumentally helpful in treating her specific condition and getting in contact with people with the same condition to troubleshoot problems we were having. The Noonan panel test was run, and the straight shooter was right she had a syndrome related to Noonans called Cardio Facio Cutaneous Syndrome. Here comes the problem. The test was done and in the insurance Company's hands in mid April, and they did not tell us until August. I called every month from March on asking if the test was back. The insurance company sent me dozens of bills, but they could not send me the one test that would have saved Gloria from some of the things Gloria had to go through while in the hospital. In the end we got connected with Cardio Facio Cutaneous Syndrome International. I am so grateful for all their work helping us with Gloria and the coordinating efforts they make to help further the research, support, and treatment of kids with CFC.

Well that is the story, or most of it. Gloria now is progressing developmentally has great early intervention and therapy people working with her and life is pretty good now that we have a nurse to cover every night of the week. Gloria's grandmas watch her during the day. Jen and I both work to pay for everything, and we are now starting to see a sustainable path forward. Gloria has been in both Early Childhood Special Education Preschool and community general education preschool. Gloria is one tough kiddo, and she has many more challenges ahead of her. There are so many people to thank for saving Gloria. You know who you are and thank you.