Raising a Child with a Rare Condition

Raising a Child with a Rare Condition

Right now I am in Lyra’s room, rocking her back to sleep, feeling a bit defeated. This is not a night where Lyra won’t settle. She is one tired little kiddo (thank you swimming). No, Lyra was sound asleep and puked all over her bed. This has been part of her life basically all her life and at times it is devastating as her mama. She just looks so sad when she vomits and she frequently has trouble catching her breath afterwards. Despite working with an amazing team of doctors, nurses and other professionals, no one has any answers or solutions. This is part of raising a child with a rare condition.

Tomorrow is Rare Disease Day. While I tend to try to focus more on the positive than the negative with Lyra, I want people to understand what it feels like to raise a child with a rare condition. Don’t get me wrong. My days are filled with love and joy. Lyra and I laugh a lot together, but there is a side I don’t like to talk about.

Raising a child with a rare condition is isolating, frustrating, and terrifying.


I am one of the lucky ones in that I have a lot of family support. It makes a huge difference. However, I often feel isolated. My experience of becoming and being a parent is so vastly different than anyone else I know. When Lyra was born I didn’t have that special moment of her being placed on my chest and sharing a little bonding moment. The nurses did place her on my chest, but it was with the hope that the skin on skin contact would trigger her instinct to breath. I sat there, dazed, as everyone kept saying in tensely calm voices, “breath baby, breath.” Then she was whisked away.  From that point on, hospital life gradually became more normal to me. While a hospital stay has been an understandably stressful and scary experience for other parents I know, for me it has become a norm.  Inconvenient, yes, but as much a part of life as a trip to the pediatrician.

One of the most isolating things, for me, is that none of the information out there applies to her, or our situation. Keep in mind, Lyra is the first documented case to have both 9p trisomy and 16p deletion.  Also, doctors have never seen her neurological abnormalities present the way her have. This means that there is little to no relevant information what to expect, or how to handle any potential complications. It also means that there is no community for us.  There is no support group for parents like me.  There isn’t another child I can introduce Lyra to and definitively say, “you are not alone.” As of right now, we are an island in the rare condition community.


This leads nicely into frustration. We have no answers.  We have no solutions. The best example I have of this is feeding Lyra.  We have come to the realization that Lyra doesn’t feel hungry (likely due to her brain abnormalities). This means that we will be using the tube for a very long time.  Perhaps for her whole life. To be honest, I am okay with that. What I find frustrating is that we can’t find a way to get her to keep food down. She throws up at least once a day for no apparent reason.  We have literally. tried. everything.  Trust me, we have a great team working with us on this. It is so frustrating to me that in 21 months of trying to find a solution, I feel like I am no closer to figuring out what works for her.  It makes me so sad to see her puke.  Her stomach heaves, her eyes bulge, and she sounds so congested afterwards. The worst it when it happens when she is sleeping, like tonight. She gets so sad and upset.  She just wants to sleep.  I get so frustrated that I can’t help her.

I also get frustrated with how long it can take to see progress with her. This is why I celebrate milestones that she does reach with so much enthusiasm. Although we work with occupational therapy, physical therapy, and speech therapy weekly (yes, that is 3 appointments every week), every skill Lyra learns is hard won.  It took until she was almost a year to get her to roll from her back to her stomach. She was at least 18 months old before she crawled. She still just babbles and only signs when she wants to be picked up. And eating…. well…. if she is motivated she will eat a bit.  However, if she isn’t in the mood there is a better chance of it snowing in Hawaii than there is of getting her to eat.


This is the piece that I rarely, if ever, talk about.  Death is a more pronounced presence in my community, and I live with the fear of losing Lyra. Most days that feeling is so small that I don’t even notice it, but it is always there.  The simple fact of the matter is that Lyra is compromised. Many of her internal systems did not form quite correctly. What an average person would likely recover from, she may not.  Also, since she is the first documented case of someone with both her genetic disorders, there could be complications down the road that we can’t anticipate.  My biggest fear is that I don’t know how long I get to keep her. I want to keep my loving and joyful little girl forever, but that may simply not be in the cards.  When I have asked doctors about it, they get very quiet.  They simply don’t know what to anticipate and they cannot tell me that everything will be okay.  So the fear is always there, normally hiding in a little corner.


Now, is this a complete picture of what it’s like to raise a child with a rare condition? Obviously not.  Anyone who knows me, or is linked to me on social media, knows that this is not the whole picture of our lives. But it is an important part, and a part that many aren’t comfortable sharing.


We Do (almost) Everything You Do

We Do (almost) Everything You Do

A comment I frequently see from parents facing the possibility of a feeding tube, or moving to a continuous feed, is “My life is over.”  I promise, it’s not over.  It will just be different. With a little bit of creativity, life keeps moving.  Lyra does everything another child does, some things she just does a little differently.  There are four things to you need to make this work:

  1. A backpack – We have 2 designed for her pump, one we got at Costco and modified (aka cut a hole in it) and a cute one I still have to modify.
  2. A Mommy Hook… all moms need a Mommy Hook.  They are amazing.
  3. Creative thinking
  4. Sense of humor

Now that we have our supplies, it’s time to go out and live life.

WARNING: Not all of these pictures are recent because it’s really hard to keep up with her from behind a camera lense.

Even hooked up to her feed, Lyra crawls around and plays in the living room:


She climbs up the stairs:


She goes with me to store and rides in the cart


She plays with her cousins

She even swings at home and in the park

She rides in the car and in her wagon


She even goes swimming! …. Yes, that is her pump floating behind her in its own raft.

So life is far from over, it just looks a little different.  You just have to get creative about when you go and what you need while you are there.  Sometimes things work.  Sometimes they don’t (there is a reason she has a towel with her in many of the pictures)! But, once you leave the house you discover that there are lots of other people who have been, or are, in the same boat.



Daily Life with my Tubie

Daily Life with my Tubie

It’s been awhile since I have written a post like this, but people seem to enjoy the window into our daily life.  I am going to be honest, it’s a little crazy.  A typical week for week for us has at least 3 appointments (OT, PT and Speech Therapy) and a music class.  Add in visits to one of her many doctors, running errands, laundry and cooking… life can be a little nuts.  But the hubby and I make a good team.  So, here is a typical day.  To be honest, no day actually looks exactly like this, but it will give you an idea:

6 am: My alarm goes off.  I made a commitment to myself the night before that I WOULD NOT hit the snooze button, but we all know I am lying to myself.

6:09 am: My alarm goes off again and we get out of bed. Each of us has a set of unspoken tasks. I go straight into the kitchen to make Lyra’s first feed of the day (a small bolus):

1 oz of prune and apple juice+2 oz pedialyte+1 tsp of milk of magnesia= Poop Juice

This lovely mixture is poured into a gravity bag (a feeding bag with a control knob that uses gravity to drip the feed into her tummy) and hang it near her jumper. Meanwhile, Mark works on getting Lyra up and changed. We set her up in the jumper and some Sesame Street and let her feed run for about 20 min.

6:30 ish: Lyra is set up and her feed is running.  Mark goes downstairs to turn on his computer for work and brings up any needed supplies. He then cleans her pump bag from the night before, and I begin to put together her food for the rest of the day.  Mind you, little if anything has been said between the two of us.  We each know what needs to be done and I am very grumpy pre-coffee. We are a well oiled machine at this point. Anyways.  The mixture for the rest of the day is:

5 oz of pedialyte + 1 packet of Real Food Blends (we hate salmon day, but know it’s important)

7:00 am: Lyra (still in the jumper) is hooked up to her pump for the next 7 hours for her regular feed.  She can’t tolerate anything with a reasonable amount calories very quickly. At this point I wash her gravity bag and any other supplies in the sink from the night before.  Mark is busy downstairs working.  I also check her bedding for any spit-up or leaks (sometimes stomach juices leak out from around her button overnight) and change whatever needs to be changed. This is also the time I may (more likely not) start a load of laundry.

7:30 am: Lyra comes out of the jumper for diaper and clothing change.  At this point she normally has her second diaper that is about half her body weight, so she needs a change. Then it is PLAY TIME.  Recently I like to take her to the bottom of the stairs to “visit Daddy” and then I make her crawl all of the way up.  If I am really organized (cough cough), I grab some of her laundry and take it up with us.

8:00-9:30ish: If I haven’t managed to get coffee and a few bites of breakfast in, now is when I do that.  At some point she goes into her play pen while I get myself together a little bit.  For those of you who see me every day, you know that I don’t take long doing this.  I also use some of this play time to answer emails, pay bills, or start something in the crockpot for dinner.

9:30 am: If we are not already out doing something by this time, we better be heading out soon! Lyra needs activities and stimulation.  Sometimes this means we are at her music class or heading over to Grandpa’s to do physical therapy. Other days we are on our way to Costco/Target/King Soopers etc. Sometimes we stay home, but I try to keep things active.

Sometime between 11 and 12: Lyra crashes.  The world has become an unfair place.  Mommy must hold her all the time. Books and toys are evil…. it must be…. NAP TIME!!! I love nap time.  I look forward to it every day.  On good days, I take a little nap too.  Today, I am writing this blog instead.  However, many is the day that I grab a quick bite of finger food and then climb into my own bed.  I can’t do dishes because it wakes her up.  I can’t do laundry because it wakes her up, so I mine as well take a nap!

2 pm: Lyra’s feed finishes and she normally wakes up.  Suddenly the world is a happy place again and my little one is all smiles and spice.  Once she is up WE GO SWIMMING!!!  I have introduced this new activity because it is too cold to play outside and she needs to, once again, get out of the house.  She only lasts about 10 minutes in the water, but it is still worth it.

3 pm: We are (usually) back home and Mark is (usually) done with work. We have family play time (aka, mommy hands off the baby and gets other stuff done…. alone….).

4 pm: We attempt to get Lyra to eat.  This normally involves getting out at least two types of puree (some pre made, some homemade), something crunchy, 2-3 different types of utensils, a cup of water/juice, bib, paper towel, and a dish towel.  Lyra will last for about 10-15 minutes, take about 2-3 bites of everything, then do her best to send food flying all over herself and the floor. Some days she is better, but recently her oral aversion has been really bad and she shows no interest in anything.

5 pm: Mark and I eat dinner.  Yes, I know it is early, but we need the fuel to get us through the rest of the night.

5:20 pm: I start to make her night time bolus.  This is the one she is most likely to throw up as we are using it to try to stretch out her stomach.  The hope is that it will do three things:

  1. Make her stomach big enough so that when it is empty her brain gets the signal that she is hungry.  Right now she doesn’t seem to get that signal.  Even when she hasn’t been fed for 14 hours, she doesn’t show signs of hunger.
  2. Stretches her stomach so that she will hopefully be able to do all bolus feeds and we won’t have to have her hooked up to her pump all day.
  3. Stretch her stomach so the brain gets the trigger to tell her intestines to work harder.  She has trouble with constipation and we think that it is because her system isn’t getting all of the signals a normal GI system would get.

This bolus is made up of:

3 oz homemade bone broth + 1 oz veggie puree + 1/2 oz fruit puree

Making the bone broth takes about 30 hours from start to finish and I can’t buy it commercially.  The commercial stuff has little to no fat and a TON of sodium.  I make it about every other week at this point and freeze it into 1 oz cubes.

5:30 pm: The bolus begins.  Once again, Lyra is placed in her jumper.  This time we put on The Wiggles! I hate the Wiggles, but it keeps her distracted. This time I use a 60 mL syringe and I slowly give her the mixture over 20 mins.  We can’t use the from the morning because the fat and purees would just clog it. I normally listen to Forensic Files on headphones. Meanwhile Mark does dishes from dinner, doses the night time meds, and makes her bag for her overnight feed.

6:15 pm: Lyra’s feed is done, her tummy has rested for 25 minutes and now it is BATH TIME!!!  Most people would assume that I do bath time.  After all, I am the water person.  Nope, Daddy does bath time.  It is one of my favorite things to listen to.  What am I doing? I am getting her room prepared! I get a sleeper from downstairs (laundry has trouble making it back up to our rooms), hang her feeding bag, set the pump with the new volume and rate for her 10 hour overnight feed, turn on her lullabies, turn on her heater (keeps her room at 70 all night), and switch the lighting to the table lamp.

6:30 pm: Lyra comes out of the bath and we put on her diaper (with an extra pad because she pees so much), lotion, and her sleeper. Daddy brushes her hair.  She acts like he is torturing her. We use her tube to give Lyra her nightly medications. Then we “read” her the Going to Bed Book by Sandra Boynton and hook her up to her feeding pump.

7:00 pm: The lights are off and her 10 hour feed has started.  I still rock her to sleep.  Yes, we have been doing sleep training.  We have even been working with the sleep clinic at our local children’s hospital.  This is what works for us right now.

Sometime between 7:30 and 9:30 I get her down in bed and leave the room.  Going swimming helps it be closer to 7:30.  Mark and I spend a little time together on the couch and then crash.  It’s a miracle if I last until 10 pm.  He doesn’t seem to require as much sleep.  At some point in the night we get up at least once to pat Lyra back to sleep. On bad nights she is up anywhere from 3-6 hours, but it just isn’t predictable.

It’s funny, when I look at my day I don’t think I do that much. However, when I write it down it seems overwhelming. For me, it’s just life and a lot more normally happens during the day. However, it is almost 1:30pm and I going to try to catch a quick nap before she wakes up at 2.

Yes… swimming in February in Colorado outdoors.