by Lindsay Olang (FB: That Crazy Trach Life IG: that_crazy_trach_mom)
Trisomy. It’s an intimidating word. When we heard that word in reference to our daughter, we were so…. confused.
When our Ella Jane, aka “Squeaks”, was 8 months old we finally got some answers from a geneticist, after months of recognized “genetic markers” and lots of questions. Trisomy 10p. We didn’t understand that trisomy occurrences can happen in any of the chromosomes, in whole or in part. Also called “duplication of 10p”, trisomy 10p is when the distal end of the 10th chromosome makes a third copy and puts it somewhere else in the genetic makeup. While it was somewhat a relief to have a name to the face, we were scared by the information the we received from our geneticist.
So, let’s go back….
At the 20 week ultrasound for Squeaks, we found out she had heart defects and a 2 vessel umbilical cord. After being closely watched by a fetal cardiologist for the months that followed, we were told, “While the heart has defects, it is still doing its job well enough. I don’t foresee any emergencies with delivery or any NICU time.”
Those words ring in our ears to this day.
74 days. We spent 74 days in the NICU after Ella’s birth. Within hours of her birth, Squeaks was on CPAP to help her breathe and already had a wide range of tests done. Then, doctors came in to present us with a list….
Atrial-Septal Defect
Mitral valve regurgitation
Dilated aorta
But she also has…
Unexplained respiratory distress
Hypotonia
And a bunch of “genetic markers”….ear pits, 2 natal teeth, broad nose, slanted and wide set eyes, low set ears, high-arched pallet, poor suckle/swallow…………….
It was dizzying, to say the least, but all we wanted to know was when we could bring our baby home. Her older sister, Lilliana, was anxiously waiting to play with her.
Within those months in the NICU we discovered the cause of her respiratory distress. Squeaks was diagnosed with bilateral vocal cord paresis (BVCP), which causes a blockage in her airway. This blockage forced her to push air through narrowed vocal cords, creating squeaky breathing called “stridor”…….thus the nickname “Squeaks” was born. A month after the BVCP diagnosis, we made the best decision we hated to have to make. Mommy and daddy prayed over our daughter before turning her over to surgeons to have a tracheostomy and g-tube placed. The gtube was placed because of her poor feeding capabilities and the potential risk of aspiration. The trach was also placed to bypass the blockage caused by her vocal cords so that she could breathe without extra stress to her body and allow her to grow in strength.
The remaining five weeks spent in the NICU involved training my husband and me in how to care for our “tubie”/“trachie”. We had to learn trach care, which includes how to suction out her trach of secretions, change her trach and the ties that keep her trach secured, and how to clean the stoma. We also needed training in how to administer medicine (via gtube and nebulizers), how to run a tube feed with a feeding pump, and how to use and maintain all the equipment we received for her. Among the equipment, we had a trach collar (aka mist collar), which is the most pertinent piece. This large and loud machine is a glorified humidifier that goes right to the trach. The most important thing to know about trachs is understanding how to prevent “plugs”. Because the trach prevents a person from breathing through their nose and mouth, those wet nasal passages are no longer in use to help in keeping the airway moist. If the trach is devoid of moisture the secretions become thick and can create a blockage within the means of breathing. This can be a fatal side effect to the “trach life.”
March 13th, 2019, we were finally “ready” to bring our Squeaks home. Lilliana was thrilled to have her playmate and we were all happy to finally be together for the first time. Sadly, it was short lived. Just a week later, Squeaks got sick and we ended up back in that beloved NICU again.
A common cold. That was all it took to bring us back into the hospital for five days of treatments and some oxygen support. And then again a month and a half after that. Very quickly it became apparent that we were not getting the full support we needed for our daughter. Most of our family had moved away from the area where we lived. New York State was failing us in obtaining early intervention services. Our medical supply company awful. Our doctors were not offering great support in writing prescriptions for basic things, like oxygen for our home. And our geneticist could not offer us any insight on a genetic diagnosis.
My husband came to me first, just under two months after our initial discharge from the NICU, and said that he thought we should move from NY to PA to be closer to my family and to Children’s Hospital of Philadelphia (CHOP). So, we packed up our family of 4 and moved down to PA. I was born and raised within a large family in the heart of Lehigh Valley, PA, and here is where we could also get that much needed family support. It was like night and day!
**side note: my sister (my only sibling) is actually married to one of my husband’s brothers. So he would still have his own immediate family in PA too!**
Within 2 weeks, we had the early intervention services we desperately needed for Squeaks! She was now six months old at this point and still couldn’t roll over or hold her head well. So, physical therapy was a must. Squeaks also couldn’t hold things and had a weak grasp…occupational therapy came to the rescue. And because of her trach, we called on speech therapy to try to begin alternate communication avenues, as well as guide us with the help of OT in some oral feeding exercises.
Then, within a month….before we even had a chance to establish her medical insurance and doctors….Squeaks was in the hospital for a trach infection. It was at this time that we began establishing her specialty doctors. She sees 7 different doctors, so that was a lot of work. But it ended up being so worth it. We found some amazing doctors and we were excited for our appointment with genetics at CHOP.
20 minutes. That was all it took. They looked at Squeaks and then deliberated for 20 minutes. When the genetics team came back in the exam room, they handed us a packet titled “Duplications of 10p”. “This is what she has. It is also referred to as ‘Trisomy 10p’.” All I remember saying was something along the lines of “Really?? But that’s not what were told....”. The packet of information basically told us that there are only about 50 reported cases in the world. Very rare. Even more rare....Squeaks is the only known case of a child with Trisomy 10p that is trach dependent. Then, while the geneticist was doing her best to be encouraging that “every case/child is different,” she took us through some things we could expect for Ella’s life. Phrases like “life long care”, “nonverbal”, “delayed development”, “severe intellectual disability”, all came crashing down on us. We grew quiet and absorbed it all the best we could. We walked out at the end of the appointment, packet in hand, and headed to our next CHOP appointment with ENT. While in the waiting area for ENT, my husband and I read through the packet in silence. The ENT appointment was a haze...I only remember apologizing to them about our state of well-being because of the news we had just received.
When we finished at CHOP, we broke our thoughtful silences for very menial conversation. Before the appointment, we had a good feeling we would get more answers, but we weren’t fully prepared for what answers we would get. How could our beautiful baby have this life? It was a real internal battle for both of us.
Honestly, it took us probably a full week to absorb it and then snap back our focus to Squeaks, and remember how we see her.....in all the beauty of who she is, to us. In genetics, they look at every physical feature and determine what that physical feature tells them genetically. Again, they pointed out her broad nose, broad forehead, low ears, slanted eyes, and thick eyebrows all as “genetic markers” for her diagnosis. But....hold on one minute!
Her broad nose? So cute you want to bite it! And a beautiful extension of her African half.
Her slanted eyes? The most gorgeous eyes I have ever seen on a baby. And they have this amazing ability to see into your very soul and to say a thousand words that her mouth is unable to voice.
And her eyebrows?? Let’s be honest.....#goals!!!
We had to remember to see her through our eyes again. Not the mucky brown-tinted glasses of a geneticist. Squeaks is who she is and she is beautiful.
It has been over a year since that appointment. Squeaks is now 2 years old and still the light of our lives. While her diagnosis isn’t all of who she is and who she is becoming....it is still a wonderful part of her and helps in molding her into who she is. At 2 years old, we are still working on getting her to stand. She is getting so strong and will be there before we know it! But we do have an adaptive stroller (also called a pediatric wheelchair) for her to help support her and to allow us to take her around easily. She can’t crawl yet, but she has become an absolute pro with getting around in her own way with scooting and rolling.
But her biggest growth is in her little noggin. Squeaks loves books and sits better through a full story than her big sister. She communicates so well with physical cues, and even sometimes with verbal cues. Grunts, cries, and laughter often break through in spite of her trach. And her laughter and smiles are undeniably contagious!
Our Ella Jane. Our Squeaks. No matter where this life takes us, we can say without question that we are completely blessed. We have had people talk to us with pity in their eyes and in their words, saying things like “and I thought I had a hard life...”. Let me stop you right there.
Firstly. We share our life story to help gain perspective, sure. But it’s mostly to encourage. Every person has their own battles and should never feel as though their battles aren’t significant as others. No matter the battle, we all have ability to give it to God. That is what we have chosen to do. There are always stories of people’s lives that will humble you to your very core. Good. Let it. But also take one other thing from it.....grow. We are still, literally, in the toddler-hood of this life. We ourselves have had to learn and grow so much already. And we aren’t done yet.
Secondly. Please don’t feel pity for our lives with Squeaks. We have our own self pity moments. But, honestly....we are so incredibly blessed by this life. If we could go back and chose a different path....we wouldn’t. We sometimes feel sad for those that don’t get to experience Squeaks. Seriously. Honored. We are wholeheartedly HONORED to be her family and to see the wonderful things God has in store for her life.
With all that said....please do one thing for us. For the millions of families living with special needs. Share our stories. Teach your children about differences. Teach them to not be afraid. Teach them to say “hello” instead of staring. All we want is for a world that our children and families can feel safe and comfortable in. Start a conversation with us....many of us would love to share and help to spread awareness.
