My name is Ainsley. I was born full term on 10/18/06 via c-section, after 12+ hours of labor and 1 1/2 hours of pushing. I weighed 7lb 12oz and was 21 inches long. My birth ultimately ended in a c-section because I was trying to come out by the side of my head with my neck twisted (according to the doctor). It wasn't a surprise, babies with craniosynostosis often require a c-section because their skulls aren't as flexible, but at least we tried. My medical story is a complex one that I am happy to share to help others. POLYHYDRAMNIOS
People often ask if my mom had a normal pregnancy. Yes she did. She had the regular pre-natal care and my 20 week ultrasound results were reported as normal, probably in error. However, when she was 8 months pregnant she was carrying rather large. My mom got really tired of people asking if she was SURE she wasn't carrying twins and started to get worried. She wanted to avoid another difficult labor, like she'd had with both my brother and sister, so she went in for an ultrasound to check my size and instead got a big surprise.
They found she had polyhydramnios (excess amniotic fluid), a LOT of it. We now know that was because I wasn't swallowing well.
During that ultrasound, at 8 months, the doctor saw a difference in my skull shape. They consulted with our pediatrician and all suspected I had a condition called Craniosynostosis, but we would have to wait until birth to find out for sure.
My mom was told there was no way she would carry to full term due to the large amount of fluid so they took the risk of having an amniocentesis which could have ruptured the membrane. It turned out they were wrong about delivering early. She was induced at full term and they still had to rupture the membrane. Thankfully it didn't happen in public!
BALANCED CHROMOSOME TRANSLOCATION
The results of the amnio showed I have a Denovo Balanced Chromosome Translocation between 1& 7. (Karyotype 46 xx p(1;7)(p22;q31.2)). At the same time my parents were also tested and neither have a translocation so that makes mine Denovo, meaning not inherited but new. What is a Balanced Chromosome Translocation and what kind of issues can it cause? Click here for a full explanation.
Most balanced translocation carriers are healthy and do not have any symptoms. But about 6% of them have a range of symptoms that may include autism, intellectual disability, or congenital anomalies. A gene disrupted or disregulated at the breakpoint of the translocation carrier is likely the cause of these symptoms.My parents allowed the University of Washington to use my DNA sample in their hindbrain study for research but we never got additional information from the study.
A few years later we had Whole Exome Sequencing done and nothing new was found on my genes. The geneticists think it is likely that somewhere the translocation caused my conditions just not in the protein portion of the genes, and perhaps Whole Genome Sequencing may tell us specifically why in the future.
Back to our story....The doctors said that even with the amnio results we would have to be patient and wait until I was born to find out more about me. There were a few answers but also a lot of remaining questions.
CRANIOSYNOSTOSIS
At my birth 1 month later, they found that sure enough the bone plates of my skull had fused early at the sagittal suture point, a condition called Craniosynostosis. That caused my head shape to become long and thin and my forehead to bulge as my skull shape changed to accommodate my growing brain. Thankfully, I did not have hydrocephalus which the doctors had been concerned I might have.I had to have surgery as soon as possible to open up the suture points and give my brain enough room to continue to grow. The back part of my head was reconstructed on 1/23/07. The front of my skull was reconstructed on 7/24/07.
When they did the front reconstruction they also replaced a bit of bone that was missing behind my eyes (the greater wings of the sphenoid bone) as well as reconstructing the brow.
Unfortunately the swelling and/or repositioning of the bone to which the eyelid muscle (levator) is connected caused a condition I was born with called ptosis (the appearance of droopy eyelids) to get much worse and my eyes to look slanted. We aren't sure exactly what happened to cause this unexpected result.
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| July 24, 2007 |
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| October 18, 2007 |
In January 2010 my craniofacial surgeon made custom eyebrow prosthetics for me, from lactic acid plastic. The implants were attached to my brow bone to prepare for future surgery. It helped elevate the lids a little, to widen my field of vision slightly, and most importantly to give a secure anchor point for the frontalis sling surgery that I would need later. The implants were necessary because my skull bone was thin in this area due to the previous cranial surgery.
VISION AND EYELID PTOSIS
I am lucky that aside from the eyelids I have good vision and can see well, with a few differences in the way my eyes move (smooth pursuits and saccades) that are related to my brain.
In December 2010 I had an eyelid surgery, called a tarsal switch procedure, to try to correct the results of the prior cranio-facial surgery. We were hoping the eyelid surgery would make it easier to see my beautiful brown eyes again and read my expressions. Unfortunately the results weren't what my parents had hoped for.
In June 2012 a Frontalis Sling surgery was done: anchoring tendon from the levator to the brow, and allowing me to use my brow muscles to lift my eyelids. It helped a little.
Although the first ophthalmology surgeon at Children's had told my parents at birth that my ptosis would be fully correctable he later admitted that after what happened in the 2007 surgery there was nothing he could do to restore the appearance of my eyes to what they were.
Yet a third surgeon thought he could get good results from redoing the Frontalis Sling (and possibly another surgery) but my parents decided to leave well enough alone.
(PONTO)CEREBELLAR HYPOPLASIA
When they took a CT scan to prepare for the the craniosynostosis surgery they were surprised to find my cerebellum didn't look as big as usual. I had been moving pretty normally so there had been no cause for concern, the malformation was found by chance. The Neurologist call it Cerebellar Hypoplasia. My Pons or brainstem is also thin like Ponto-Cerebellar Hypoplasia except I don't have the gene difference that causes the genetic form of that condition. Since the cause for me is different I don't have things like dyskinesia and seizures, and it also is not degenerative.
It's like Cerebral Palsy, in that it can affect people from a mild to severe degree and it causes the same type of difficulties although though we know it is specifically due to the anatomical differences of my cerebellum and pons. Anything that involves muscles and the cerebellum/brain can be affected, and that means pretty much everything, eating, talking, walking, reading, writing, even emotional regulation, etc. I am affected in all these areas but work hard to do the most I can. Not everyone with a cerebellum malformation is affected in the same way. Like individuals with CP not all have intellectual disabilities. I do but the extent is difficult to quantify.
I have a posterior walker that I have used out in the community since I was little. It's great because it has a seat that flips down for when I get tired and because it is heavy it is less likely to tip. On smooth surfaces like our driveway I can move really fast. For long periods outside the home I use a manual wheelchair. At home I use a lightweight walker. Maintaining balance is my biggest challenge and I am afraid of falling.
AIRWAY/TRACH
Right away at birth I had stridor (kind of a wheezing sound when breathing) and was sent to the NICU for breathing support. Here is a video of what my breathing was like, but I'll warn you it's kind of hard to watch. After awhile it was decided that I was working too hard to breathe even with oxygen and needed to be intubated. Even though I was scopes several times the doctors never figured out exactly what the initial problem was caused by. They were able to see that the trachea and lungs looked good, under anesthesia my vocal cords appeared to open and closed normally and they ruled out several common airway conditions.
Over the first week or two I acquired vocal cord polyps from the intubation tube and scopes down my airway, that lead to swelling (which was later further exacerbated by reflux) and over time caused permanent scaring in my airway which still affects me today. Though my parents hoped for improvement the swelling increased instead over the weeks. After 3 failed extubation attempts over the first 5 weeks of my life, they consented to a tracheostomy so I could start the process to come home.I was SO happy to have that tube out of my throat, even though I now had one in my neck. Even though I was doing great and didn't need any ventilator support or oxygen I still didn't get to go home yet.
The following weeks were spent coordinating the details of my release from the hospital. My mom and dad would be the primary caregivers for all things medical and had to complete 30+ hours of training including: infant CPR, how to care for and replace the trach (short for tracheostomy tube), learn what types of medical equipment and supplies would be needed and learn to recognize signs of respiratory distress.
Then came training on how to use the medical equipment: a feeding pump, ambu-bag (for manual ventilation in case of emergency), oxygen (just in case), warm mist machine(for humidity), pulse-oximeter, apnea monitor and suction machine to clear secretions from my airway. We managed to fit everything onto my stroller.
In addition it took time to setup night nursing services so we would have trained medical professionals to care for me while my mom and dad slept since tracheostomies and g-tubes can require round the clock care.
Finally, all the parts for trach care were in place and I was discharged from the hospital, just 4 days before Christmas! My brother and sister thought it was the best present ever!
Although a trach requires a lot of special care it saved my life, and was a huge part of my life for almost 8 years. In 7/21/14 my trach was permanently removed. That was a great day!
My airway was scarred from the trauma of swelling and that keeps my arytenoids from opening my vocal cords completely. I still have trouble getting enough air if I get exerted or am crying really hard but can work through it better now that I'm bigger. My parents have opted not to try to remove the scar tissue surgically, although it is possible that is something they might consider in the future.
Unfortunately I have not handled the last few surgeries well because the intubation needed for surgery (now that I don't have a trach they can use) causes trauma and swelling through the already scarring vocal cord area. There is the risk if I have surgery that I could end up having difficulty and have to be re-trached.
I have had pretty severe Obstructive Sleep Apnea. This is a common condition for many people but especially for those with lower than average muscle tone or neuromuscular conditions. The trach treated it well for nearly 8 years, but it was decided that I should be given a chance to try going without a trach, using CPAP to sleep instead. It worked out and after a year my ENT surgically closed my trach stoma. For me CPAP is not optional, I really need it and have been using it to sleep every night since then. If I didn't my breathing would become more and more labored and noisy until I was unable to breathe at which point I would wake up, unable to sleep. If I didn't wake up I could die. Some parts of the sleep cycle are better for me than others but my CPAP is actually A-PAP, automatically sensing the amount of air pressure I need and adjusting automatically to whatever pressure I need. This makes it more comfortable during the times I need less pressure. As I have grown (and so too my airway) the OSA is less severe but I will likely need CPAP support for the rest of my life.
REFLUX
For the first 2 years of my life I had this icky problem of sometimes throwing up when I coughed up trach secretions, in other words reflux even though I spent much of my early life strapped into a very restrictive reflux wedge. After a medical trip to the world-renowned Cincinnati Children's Hospital Aerodigestive Center we learned my stomach contents made their way all the way up to my airway (even when I didn't throw up) and that caused swelling to my airway surrounding the vocal cords. In addition to the airway swelling the pulmonologist was worried that aspirating stomach contents could cause lung disease. I had signs of Bronchiectasis already (lung CT's have shown improvement since then).
In November 2008, when I was two, I had Nissen Fundoplication surgery which keeps a person from being able to vomit. It was a huge relief to the whole family because they could finally relax a little without having to worry that I would vomit into my airway (due to the open trach). In addition I went from needing suctioning 50+ times a day to less than 10. Within a week or so my airway improved enough that I was able to tolerate a cap on the trach. And, I finally gained weight after the vomiting stopped!
TUBE FEEDING
Months after getting the trach I got a swallow study and the okay to attempt to feed orally, but by that time I didn't have a lot of interest in learning, or maybe it was just too difficult. They called it Dysphagia, and it was something I battled with for many years.
My mom tried really really hard to help me learn to eat but in June 2007 it was decided that I should have a gastrostomy so I could get that tube off my face, and more importantly, out of my airway! It was the right decision even though my mom was very sad they had to put a hole in my squishy tummy.
BLENDERIZED DIET
Three months later the surgeon replaced the Bard with a Mic-Key button, that allowed my mom to start the process of switching from formula to feeding a homemade blenderized formula made from real foods. She had heard great things about this method of feeding, that it really helped a lot of children like me. It might surprise you this is a very important and somewhat controversial topic and one of the things that often leads people to this blog. For more information please read our Blenderized Diet page.
ORAL FEEDING
Even though I was fed through a tube I still enjoyed sitting with my family at meal times and tried a little of what everyone else had. Sometimes I tasted things but swallow studies had shown that when I swallow I was at risk for aspiration (getting food or liquid down in the lungs) so if I got tired I had to stop eating and it was a long process to increase the amount I could eat.
My mom worked really hard over the years to get me over my dislike of textures which is a common consequence of having a trach and g-tube. I had to build the strength to eat. We celebrated every milestone along the way. We did intensive work in the Summer of 2014 and I started eating regular table foods that year, transitioning to fully oral eating in December 2014 over winter break. My g-tube was removed and surgically closed in July 2015. This was a HUGE accomplishment! 
HIP DYSPLASIA/ORTHOPEDICS
A Pavlik harness in the early weeks did nothing so in November 2007 when I was one year old I had hip surgery and was placed in a spica cast and then a brace for 4 1/2 months. Then I wore the brace to sleep for another 6 months. This was difficult and we really hoped this would do the trick but unfortunately in the end I needed a bilateral hip and femoral osteotomies.
The goal of this surgery was to keep the leg bones in the hip sockets to prevent arthritis of the hip and pain when I get older. The surgery was done on 4/05/10. I was put in a spica cast again and in another brace for 3 months. In December 2010 I had the plates that had held my legs together after the surgery removed, they had been causing pain and discomfort. You can see them here in the x-ray.
Follow up has shown that my hips are in their sockets which is great!
I was doing well in physical therapy but still was not walking independently and the doctors and physical therapists agreed that further surgery was warranted. My right knee could not fully straighten and I had pretty severe pronation of my feet. On 9/11/17 I had bilateral calcaneal osteotomies and hamstring release. I was placed in casts with a cross brace between my legs for a few months and was not allowed to bear any weight.
That surgery required intensive pool and physical therapy afterward during which we discovered that Ainsley's leg length discrepancy had worsened and seemed to have started to affect her spine. Her orthopedic surgeon placed growth restriction plates around her right femur on 10/1/18. This allowed her left leg to grow more than the right but then it started to get longer than the right and the plate was removed urgently on 10/28/19. All of these surgeries required work with a Physical Therapist which we continued until Covid-19 hit in March 2020.
THERAPY
I started therapy when I was just 4 months old, with in home visits from a birth-to-three center until I was old enough to attend at the center.
When I turned three I started to go to special pre-school on the school bus 4 days a week with my nurses. I continued to received OT, PT and speech therapy during that time and through school.
In addition to that I've done private therapy off and on over the years including Hippotherapy, Safe-Gait, Swim-therapy, physical therapy and speech therapy. My mom has taken what she learned through those countless hours and applied it to home therapy work to increase the amount of work I do.
SCHOOL/HOMESCHOOL
After preschool I attended regular school. Part of each day was in a Learning Center (Special Education) and part in a General Education class. I received weekly OT, PT and Speech at school. I had nurses who helped with my medical needs and assisted me all day to access the school and playground, communicate with others and help with my academic work. After I got my trach out the nurses were replaced with a 1:1 aide. I had an IEP with lots of measurable goals but learning progress was slow. At the beginning of the 4th grade I was still not reading, writing or getting as much support with communication as I needed, so my mom decided to try homeschooling in 2016 and we are still at it. Click here if you'd like to see a bit of what we do.
I loved school but I also really like homeschooling. It helps me stay healthy and allows me to work at the pace that is right for me. Progress is still slow but I am learning. My favorite thing about homeschooling is I can wear my pajamas and bring my "girls" to school with me.
COMMUNICATION/AAC
For the first years of my life, due to the fact that I breathed through a tracheostomy tube, I needed a speaking valve in order to make sound with my voice. Normally the air you breathe comes up through the vocal cords and produces sound. When you have a trach the air goes in and out the trach tube before reaching the vocal cords so there is little if any sound depending on the airway. My airway was so swollen shut that I had no voice for the first 2 years of my life, until the fundoplication. I did get a speaking valve but I didn't love how it felt and would often remove it, which left me without a voice. Lack of a voice was really only part of the problem, having a cerebellum malformation makes the motor planning and coordination of learning language hard for me. Despite that I score high on receptive language and can understand much more than you might think. I can say "mama" and "all done" and try to say a few other words. I have Complex Communication Needs and started using AAC methods early in life: first a simple switch, then PECS cards, an electronic Vantage Lite when I was 3, iPad with TouchChat and in 2012 I started using a Nova Chat SGD. In 2014 I transitioned from a phrase based system to core word based. In 2016 I started using Proloquo2Go. I can communicate quite a bit with it and this year I have started learning to use it to send text messages. In addition I communicate with gestures, pointing and some sign language. They call this multi-modal communication.
Having language delays there was concern that I may have difficulty hearing. Even though the sedated test when I was an infant was normal they tried twice to make me show them what I could hear with a behavioral hearing test. I HATED animatronics when I was little so that did NOT work. Eventually I had another sedated hearing test and it was normal again, which was a relief to my parents.
HEARING
SIBLINGS
The other thing about me you should know is that I have the best brother and sister in the whole world! Sometimes I annoy them, it's true, but that's my job as the baby sister of the family.They were only 5 and 3 when I was born and have grown up by my side and been a part of all of this. They help me when I need it, played with me, and love me for who I am and would stand up for me if I ever needed them to. They are special. Just look through the posts and you will see!
In July 2015 I had my trach stoma surgically closed as well as my g-tube. It's been amazing to live tube free for the past 5 years but I will forever be grateful that they saved my life! We currently have no other surgeries planned for my future, thankfully. You can see I've been through a lot. Luckily I am a very happy and healthy young lady so all this stuff has not got me down one bit and I live a really good life!
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