Welcome to Ashlyn's Caringbridge site. We hope that you will enjoy learning a bit about our angel, and what a strong little girl she is, despite the difficulties she has!
Ashlyn was diagnosed with Rett Syndrome in Mar. 2007. In Oct 2008, she developed medically intractable epilepsy, and in Feb. 2009, was diagnosed with Hydrocephalus, and had a ventriculo-peritoneal shunt implanted.
Ashlyn Delany Bennett was born on Jan. 25, 2005. We were very excited to have our little girl. Our family was now complete, just as we had hoped: an older boy, and a younger girl. Mommy was so happy, she even said, "I don't ever have to do this again!" right after Ashlyn was delivered!
Ashlyn came home with us after a couple days, and all seemed well. She didn't sleep as well as brother Bryan had when he was a baby, but so it goes with second children. At four months old, Ashlyn was rolling from front to back and back to front, although she hated being on her stomach. Soon after, Ashlyn stopped rolling. She wasn’t meeting other milestones.
We were eventually referred to a pediatric neurologist, Dr. Chadwick. He ordered some tests for her, including an MRI, blood work, and genetic testing.
Just before the testing began, I was having coffee with some coworkers during our shift, when I read an article in the paper about a little girl (http://www.mankatofreepress.com/features/local_story310223539.html?keyword=topstory) with Rett Syndrome (http://www.rettsyndrome.org/). I was concerned that perhaps this is what Ashlyn had, but was reassured its relative rarity. She didn't display the "classic" signs of Rett, but I remained nervous about it, as I read that signs may not show until 1-4 years, after 6-18 months of normal development.
All of her initial tests came back normal. She was diagnosed with "Developmental Delay". She was referred to Pediatric Therapy Services (http://www.kidtherapy.com/) in Mankato for Physical and Occupational Therapy. She started receiving PT and OT from our School District (http://www.isd77.k12.mn.us/community/childhood/). Sessions were 45 minutes each per week, 4 times a week. With therapy, Ashlyn has learned to sit on her own, finger feed herself, roll around, play with some toys, and push up with her arms. At around 2 years, Speech Therapy was added by both PTS and the school.
Still, we had no medical answers. Ashlyn's neurologist would see her every couple months, but could shed no light on what was happening. No one had any answers. It was frustrating, and felt like we were just treading water.
We were finally referred to Gillette Children's Specialty Healthcare (http://www.gillettechildrens.org/) in St. Paul, MN. We met with Dr. Raymond Tervo (http://www.gillettechildrens.org/default.cfm?pid=184.108.40.206&action=Member_view&RecordID=3180#Raymond%20Tervo,), a Pediatric Neurodevelopmentalist. We liked him a lot, and was very good with Ashlyn. He also wanted answers, if possible. That was a relief, as "treading water" was tiring us out quickly. He ordered many tests, including ones that had already been done, because he didn't want to miss anything. An MRI, EEG, and many blood tests were preformed, including in-depth genetic testing for many conditions. All testing was wrapped up in Feb., 2007, and we waited for the results.
Ashlyn was scheduled to come back to Gillette on Mar. 19, 2007, to review the results of her test. Dr. Tervo's nurse wouldn't tell us anything on the phone, but said that there were some things that he wanted to go over with us.
The night before we took Ashlyn to Gillette, KSTP in the Twin Cities ran a story about another girl (http://www.kstp.com/article/stories/S38729.shtml?cat=1) with Rett Syndrome. It was like an omen. When we first began looking for answers, there was the newspaper article. Now, the day before her diagnosis, here was another story about the same condition. I couldn't sleep.
We went to Gillette that morning, and were sent to an exam room. Dr. Tervo came and sat down with a stack of papers. I looked at his hands, and saw he was shaking, if just slightly. Then I looked at the papers he was holding, and the word "Rett" jumped out at me. Then he confirmed it.
We'd have been devastated if not for the story run by KSTP the night before. It mentioned a research breakthrough (http://www.kstp.com/article/stories/s29074.shtml) with Rett, where scientists completely reversed the symptoms of Rett in lab mice, by restoring the mutated gene. It was as if someone had been giving us clues all along. Telling us, "Hey, this is what you're going to be dealing with, but look - there's hope."
While the blow was softened, the prognosis for Rett is not great. She'll need assistance with virtually every aspect of her life, she may never learn to walk or talk. She may develop seizures or breathing problems. All of it is swirling around in our heads. Instead of treading water, it felt like drowning.
One look at Ashlyn’s smile is instant reassurance. The diagnosis is what it is, but that does not define Ashlyn. She prefers to make herself known in her own way, with her smile, giggles, and the hard work she does in therapy.
We think that she may have a mild form of Rett, as she still does not display the classic signs. She does grind her teeth, she doesn't sleep well, and does show some supportive criteria of Rett. It is our hope and belief that she is in Stage II, and that she entered it earlier than normal (at 4 months, when she stopped rolling). She continues to make progress with therapies, and there is no reason to believe that she won't continue to do so!
Thank you for taking time to learn about Ashlyn, and Rett Syndrome. We appreciate everyone's kind words of support and encouragement. It is our hope that with the research that is being done, someday Ashlyn will be able to thank you herself!
A bumpy night
Journal entry by Jason Bennett — 13 hours ago
Over the course of the afternoon and evening, Ashlyn didn't seem to be holding her oxygen levels up very well. We were repositioning her every which way, with limited results. We finally put her on her stomach and even that didn't seem to help much. The doctor called to have her blood gases checked, and to have an x-ray done. Blood gases looked good, however, the x-ray showed that the lower lobe of her right lung was "gone" (collapsed). He ordered some additional respiratory therapies, including pneumatic percussion of the lung from the outside. That seemed to help somewhat. The plan initially was to let her "tread water" until the bronchoscope procedure at 8:30am. The doctor ended up notifying the pulmonologist, who lives in St. Paul and decided to just come in and do the procedure this morning.
We started about 2:00am with Ashlyn getting sedated and eventually, a paralytic, as she started having some seizures, likely due to about 10 people in her room hovering over her and holding tubes, holding her, etc...
The pulmonologist went into her lungs and from what I saw and what he told me, he went about 6 "generations" down in the lung branches, and reached a large mucous plug. The tool allows him to squirt saline at the mucous, and is also a suction device. The plug was far too thick to be suctioned up, although he did move past it and break a little bit of it up. He also explained that there are 23 or so generations of branches of the airways...so if the 6th is plugged, every other generation, and all of it's branches, are also plugged with mucous. He said that this likely occurred during the "non-invasive" respiratory therapy (when she was on her biPAP after the previous extubation), which aligns with my previous thoughts that she wasn't being adequately suctioned when on biPAP, and it just pushed the secretions down into her lungs.
He suggested that the intensivist start her on a drug called Pulmozyme; it is delivered into the lungs (I think) and breaks up mucous. The idea is that if we can get the mucous to break up, it will be easier to suction it out after a few days with another bronchoscopy procedure.
Optimistically, if all goes as I hope it does when I'm thinking positively, then this may be a good thing; it's possible this mucous has been building up for months or years, and if we can get it out, or get some of it out, maybe we can restore some lung function that she hasn't had for a while.
Pessimistically, the mucous may be too thick and too deep to get out. I'm guessing some of those conversations will be had today. Right now, I'm very tired. I am going to go back in to check on Ashlyn, and if all is calm(ish) I'm going to try to sleep for a couple hours.
But, on cue, the fire alarm just went off.
Received: January 4, 2019