About Trisomy 18 | seiyashope

Trisomy 18, also known as Edward's Syndrome, is a genetic disorder.

Many children diagnosed with Trisomy 18 do not live through, or long after, birth. It is believed many more pass without being diagnosed at all.

I have decided to split this page into three sections in an attempt to give a clearer picture of the disorder itself, what it means to our family, and what it may mean to our son, Seiya.

I hope this approach paints a picture of our experience helps to enlighten.

Please understand there are facts, papers, websites, and communities which go into much more clinical detail than I will here. I will provide links to some resources in the above menu bar under links for anyone curious to read more when I have a moment.

The Disorder

Trisomy 18/Edward's Syndrome is a disorder similar to Down's Syndrome or Patau's Syndrome. Typically all three are screened for in utero via blood test and ultrasound. A more conclusive screening test known as an angiogram may also be used to determine the diagnosis more definitely. Typical signs of Trisomy 18 visible during ultrasound are clenched fists with overlapping fingers, cleft lip and palette, club or rocker bottom feet, cardiac defects (often looked at more closely by a cardiologist who will do an echocardiogram), and more.

It is typically not one, but a combination of the list of signs that will raise the suspicion of an obstetrician who will recommend more thorough testing.

Children born with the syndrome are given little to no chance of surviving the birth, and if they do, there is a laundry list of complications that follow and often a number of surgeries needed to give the child the best shot at survival as possible.

Many children born with T18 are also born prematurely which can result in "premie lungs" and other further complications in line with premature births and on top of T18 itself.

Should the child, parents and hospital team manage to get through the initial issues, the developmental issues are addressed next. Slow development both physically and mentally, difficulty or inability to eat and breathe without machine or assisted support, etc.

Out of respect to all children with Trisomy 18 I will refrain from blanket statements about what symptoms and challenges these children may face, as in my experience although there may be overlap, each child is unique, and we have met or read about the worst cases to the best cases.

In Seiya's case, he was born with full Trisomy 18 (there is partial T18 as well) and had the following complications:

- A large hole in his heart (VSD)

- A smaller hole (ASD)

- A "bridge" blood vessel connecting the aorta and pulmonary artery in the heart which remained open, but is supposed to close after birth in children (PDA)

- Underdeveloped "premie" lungs

- Pulmonary hypertension

- Missing Corpus Callosum which is responsible for balance and many functions

- Low muscle tone (Hypotonia) - this is a bigger issue than it may seem

- Small mouth/jaw/airway

- Clenched hands with overlapping middle fingers

- Rocker bottom feet (Vertical Talus)

- Malrotated kidney

- Hernia (hole in the groin area)

- Assumed hearing loss

- Poor bowel motility

- Severe reflux

- Intolerance to many formulas

The big issues are the heart, lungs and pulmonary hypertension. It's a bad combination and it leads to heart failure. It's just bad.

The next is the low muscle tone and small mouth, small jaw and narrow airway. The low muscle tone means when a child falls asleep, that narrow airway gets "floppy" and the space for air to move through shrinks further, which results in obstructive sleep apnea. Your child either has great difficulty or cannot breathe when they sleep (this can be the case when they are awake as well). Typically the deeper a sleep they fall into, the more difficult it becomes to breathe, and they spend a great deal of energy exerting themselves to maintain their breathing. As that goes on they become more and more tired, eventually not being able to breathe at all. A BiPAP machine or tracheotomy are often the support mechanisms for that, but come with their own complications and are a job in themselves for the caregivers.

Finally, severe reflux, poor motility and formula intolerance. This creates a vicious circle. You feed your child, the intolerance causes reflux which brings food up and burns at the same time. Painful and dangerous. They also become constipated. You feed them again, that repeats, etc etc. Eventually due to the constipation and difficulty tolerating, they begin to have large spit ups/vomiting. Besides the pain and discomfort, this creates a larger issue. Many children cannot swallow properly. The esophagus doesn't work properly and there is a high risk of that isn't spit out has a high chance of going down the wrong way and into the lungs. This can cause pneumonia which T18 children are extremely susceptible to.

Any one of those complications on their own is a problem that can and should be dealt with in its own way. A combination of a couple of them can make things difficult. All of them together and two years later we are still not out of the woods...

Our Family

"You should not have this baby."

Our obstetrician was away on holidays when it became apparent that Seiya needed to be delivered early via C-Section. Our first son had be premature and it was anticipated Seiya would be as well. Mom was in hospital on bed rest and I was at home when the doctor filling in for our obstetrician said what he said. He said it three times to mom that day. She called me, crying, and told me what happened. I asked to have him call me so we could talk. We had decided to forego the amniocentesis, and were still not 100% sure that he had T18, or what type of it he had if he did (full or partial).

"Mr. Calla, your wife has had a c-section before, the second is riskier to the mom than the first, but more importantly the baby will most likely not survive long after birth anyway, and if you decided to try and have more children, a third c-section could have terrible consequences for your wife. I advise that you let us induce the pregnancy, and have the baby be born without c-section, although he will probably not survive the stress of the birth due to his heart complications, it will be healthier for your wife."

" Thank you doctor. I understand what you're saying and why you're saying it, however we have already decided what we want to do, and I do not believe your suggestion would be mentally healthier even if it would be physically healthier. Please stop harrassing my wife with your advice and take good care of her as her doctor instead. If you need to discuss anything more about it, please discuss it with me when I get there tomorrow morning."

So that's how our hospital stay began.

To this day I cannot forget my wife calling me in tears, telling me the doctor told her to essentially allow our baby to die. Without any care for our history (we suffered a number of miscarriages prior to our older son being born), or concern of difficult the decision had been to say that no matter how Seiya was born, we wanted him and would take care of him, this doctor had been able to so quickly demean our efforts and try and put us back at square one.

When they started the c-section they told us - very kindly - that it isn't uncommon for Trisomy 18 babies to not make any noise when they come out, so not to be alarmed, and that Seiya would be taken away immediately into an adjacent room, where I was welcome to follow, for his Apgar score.

Seiya was born by c-section on January 07, 2016 at exactly 5:30pm, screaming his head off in the adjacent room. He passed his Apgar with flying colours to the surprise of everyone in the room but me, as I didn't know what an Apgar score was at that time. And then the fun began...

We would spend the next 10 months in hospital, first at Sunnybrook, then at Sick Kids Hospital, taking shifts to watch over him all hours of the day and night. We read and read and read some more. Medical journals, websites, support groups, organizations. We made calls to prominent members on the medical side specializing in Trisomy 18. We challenged nurses, doctors, surgeons all along the hospital journey, and in return they challenged us. We were having conversations with medical professionals at every level that we shouldn't have been able to have without attending medical school ourselves. But we did it, and we saw Seiya through heart surgery, g-tube insertion (he feeds by a tube in his tummy), held our ground against a tracheotomy for his breathing issues, worked closely with hospital staff, social workers, etc. to try our best to help Seiya thrive, taking our cues from him as we went. Our goal was to get him home in the best condition possible and start introducing him to the world around.

It wasn't easy, and he's not our only child. Big brother, almost 4 now, has been incredibly sweet and understanding the whole way, and brought his love and energy with him everywhere he needed to go for Seiya too.

Seiya was finally able to leave, and the list of medications to manage the issues he still has continues to grow and shrink depending on his needs. He continues to rely on a bipap machine to help stent open his airway when he sleeps. When he left the hospital he had a tube in his nose that helped keep the airway open when he was awake. Taking it out to put him on the bipap machine when sleeping, and reinserting it when he woke up was a challenge in itself. How do you do that to a baby and expect him to sleep at all anyway? But we he managed, so we did as well. He also had hernia repair surgery and a number of appointments with various teams at the hospital who he continues to see today still.

We also had an oxyhood, a space-age looking bowl that we would use when he wouldn't tolerate the bipap machine or the tube in his nose. We still rely on it sometimes.

As he grew bigger and stronger he was able to breathe well enough when he was awake that we could stop using the nasal tube, thankfully.

For us as his parents it means that we need to constantly be on vigil. Constantly "on" in general. We wake up at 7am, go to bed exhausted at 1am on average. The days, weeks and months are scheduled around Seiya's medications, therapies and hospital visits. Trying to make time to meet big brother's needs as a bouncy, curious 4 year old. In mom's case, it also means being woken up at least two to three times a night by a noisy Seiya or a brother who had a bad dream or needs water, etc. Mom's have the toughest jobs, no doubt.

Anytime he gets a cold or the flu, it traditionally ends in hospitalization. He's had pneumonia twice this year and was hospitalized again towards the end of summer with a mystery infection or bug of some sort. Hospitalizations start with typically minimum 8 hour waits/visits in the emergency room before being transferred to a ward for 3+ days of in-patient care.

Staying at the hospital is a different world, and took it's toll on us as well. Constantly eating out and irregularly, not sleeping well. Trying to stay on top of day to day bills and home concerns that you become so far removed from for so long. Things start slipping away quickly.

We often look at our lives and think, "wow." Our freedom the way a normal family has is completely limited, personal time is almost non-existent, finances drain quickly, and it takes so much administration, time and brainpower to stay on top of everything. An exercise in scheduling and planning to even think about going anywhere all together. We had to purchase a van just to fit Seiya's equipment along with us and the two boys because our SUV wasn't enough. I need to work from home in case there should be an emergency as one parent needs to drive while the other tends to Seiya during the ride. Any trip out the door means we need to have medications and equipment ready to go, and be ready to have our activities or conversations interrupted by machines beeping at us or medications needing to be administered. There's just no break.

Our house always has somebody else in it helping us as all hours of the day/night, be it nurse, family or friend. We're always busy. We're always tired. We miss large family events, gatherings with friends and most things social. We feel like that as parents without complex care children, how do we manage all of this without burning out? I guess you just do. We wouldn't be able to without the love and support of everyone around us, that's for sure. So given all of that, why wouldn't we have taken the path the our substitute doctor recommended?

Because we made Seiya a promise. In fact, that's what his name means: a covenant between us and him. We promised to give him the best environment we could for as long as he decided to be here, and we asked him in return to enjoy his life for who he was in all the ways he could.

So far, so good.

And the funny thing is, although I've heard it and I understand it from others in many different difficult situations, the one thing we've never thought is " Why us?", because it doesn't matter. Seiya having a disorder is not about us. Going through with him everything that happened at the hospital is not about us. Scheduling our lives around this, doing what we need to do as best as we can is still not about us. It's about him.

Do we want more free time for ourselves? Yes. Do we want to sleep more? Yes. Do we want to stop having to put our lives, personal health and careers on hold? Yes. Do we want to stop going to the hospital, stop check ups, stop thinking all these things that only doctors and nurses, etc. should need to think about? Yes! Can we? No, not yet. But we will, and when we can it will be because there's only one thing we know for sure about Trisomy 18 and our little boy: somewhere, somehow, sometime much earlier than we want, Seiya will be gone. And we'll be able to do all the things we couldn't for awhile again, and it will be bittersweet anyway. That part... sucks.

So in the meantime, while he is here, we put all those "I wants" away - but we do take out a bit here and there when we see an opportunity, it helps us avoid madness - and we do what we need to do for him, and as he gets tougher and stronger, we take him out more and more, and let him experience more and more things. We're hoping to go to the zoo once we're through this 2017 winter.

So that's a small bit of mom and dad's life, how does Seiya feel about this?

Seiya

Seiya smiles a lot. He laughs, he loves being tickled. He's started standing with support. He breathes on his own when he's awake and doesn't have a cold or flu, although he sounds like Darth Vader when he does it. This has earned him the nickname, Darth Seiya in our household (dad's fault).

He likes books and holding not-too-fat cylindrical objects. He definitely likes bouncing and jumping with mommy, daddy or big brother. Sometimes all of us together. His big adventure this year would have to be the trampoline park! What a sight that was.

He likes walking outside, but is photosensitive and needs shade or sunglasses to keep from sneezing and severe allergic reaction. He still likes being outside though. I think rain confuses him!

Some days he dances. We hold him up and he swings to and fro and bounces up and down giggling in his own Seiya way.

He likes going to rehabilitation and rolling around or being moved around.

He's recently started to make little speaking noises. "Deh" and "jeh" sounds mainly.

He's just climbed over the 8kg mark, and will be two years old in less than three months.

He has a scar on his chest and sides after open heart surgery. A button on his tummy for a tube to be connected to for feeding, just a little more hair on his head than his father, and is finally getting his fifth tooth in.

He loves playing with his big brother, rolling around on the floor on his own, and looking at the leaves outside.

He's our little boy, and I don't think that he wishes he were anyone else other than exactly who he is.

Appreciation

Regardless of everything we have been through to this point in our journey with Seiya, I believe it is important to recognize that so many people and things have helped us come as far as we have.

Parents, family, friends, the surgeons, doctors, nurses, staff of the hospitals and clinics, our pharmacy, my workplace, the people who provided our care and support systems in the province and country and everybody who contributes to them. Anyone who has listened to our story to date, or has told us their story. Everyone who has forgiven us when we couldn't make it to an event or had to cancel plans or couldn't make plans to begin with.

We have good days, and we have bad days. We have days where we're proud of everything we've achieved, and days where we worry what's going to happen next. We have days where we decide to try and have conversations that don't involve care plans or scheduling, and we laugh at jokes we tell. The kids make us smile everyday. And some days you'll find me or mom crying, usually because we write something like this and become flooded with all the feelings we haven't had time for in the past two years, and wanting really hard to be the best parents they can for their little boys, but sometimes not knowing how to deal with it all.

Trisomy 18 is a genetic disorder which is still in its infancy as far as the medical world is concerned. There is still a lot of data, research and testing that needs to be done, and it is hard to do as the subjects themselves often do not survive long enough for proper observation and action. The good news is that it is getting better, and compared to stories and experiences we have read or heard from 10 to 20 years ago, the experience and approach to the disorder by hospitals and parents alike is changing for the better. I sincerely hope it continues on that path and more little boys and girls like Seiya have a chance to experience the best of the little world we find ourselves in.

Dad

October 17th, 2017