I have such strong emotions about this story. I love that I get to introduce all of my friends and family to the Linzer family, but I hate the reason why. Some part of me thought it was over, that Niemann Pick Type A died with Trek, but it didn’t. 5 month old Quinn was just diagnosed with Niemann Pick Type A. I wanted to share her story with you in her mama’s words so you can fall in love with her as I have.
Can you tell us about each of the 5 people in your family?
We are Brett (daddy), Eileen (mommy), Colin (4.5), Reid (3) and Quinn (b. May 16th). Brett and I just recently marked our 11 year ‘dating’ anniversary, married for 7.5 years.
Brett has a small family business about 10 minutes from where we live. He likes Top Gear, This American Life and gadgets.
I am an analyst for a large publishing company in Manhattan, now on a part-time basis. My vices are chai tea (Chelsea – we share the same affinity for $5 cups of Starbucks and our husbands share the same wonder at this affinity!), Mad Men and Us Weekly.
Colin is in pre-K and LOVES school and superheroes, especially Spider-Man and IronMan. He wants to be an astronaut when he grows up (poor dear boy – terrible timing!) and is intent on “learning everything” so he can become one. He is a so-sweet science geek even at 4 and it is amazing to see.
Reid is in nursery and likes school a lot but also still really likes his mommy and daddy and “Quinn-y” time. He has incredible comedic timing, is almost always happy – even when being bad! – and is destined to become a cop or a criminal – we’ll see how that one plays out!
Quinn is THE best baby in the world. She is so sweet and happy, she is unbelievably social. She smiles so much – even when woken from a sound sleep!, she ‘talks’ all the time, she loves her bath, loves her brothers, loves her mommy and daddy. I do suspect, however, that she would give us all away if given the choice between us and her THUMB! Quinn loooooves her thumb! She generally loves her life.
Where do you live and what does a normal day look like for the Linzer family?
We live on the south shore of Long Island, just west of Queens (NYC). The boys have broken our lives up into three categories – each day is either a “school day”, a “mommy day” or a “family day”.
A school day is a day when mommy and daddy are both working. Three days a week the boys go to school for the full day. Two of those days, I work from home in our basement office and one day I commute to the city for work. We have help come in for Quinn on the days that I am working from home and on the day I am in the city, Nanny (my mom) and Grandma (Brett’s mom) take care of her and get some “Quinn-y” time for themselves. I start work at 6:30am so the mornings are a bit crazy for Brett – trying to time everything with Quinn’s ‘power hour’ and getting the boys all settled while also getting ready for work (and trying not to get puked on by Quinn!).
A mommy day is a day when I am home with Quinn and Reid for the full day (2 days a week). Colin does a half day of pre-k on one of those days and is home with us by 11:45; the other day it’s all three kids. I LOVE mommy days Lately we don’t necessarily do a ton but we try to get to either the playground or the library or even Target (our favorite store) at some point in the day. While we’re home, we play in our basement or out in the backyard. We read LOTS of stories. The boys draw and color, play Legos, dress up as super heroes and build train tracks. And most importantly we all love on Quinn all day long and she eats it up.big brothers-Reid and Colin
A family day is Saturday and Sunday – both daddy and mommy are home with all three kids. Family days are so much fun, especially lately as we are going through the ideas on Quinn’s list. We are rarely stationary on a family day – meeting up with friends and family, having people over for barbecues or ordering in pizza. The boys are in bed around 8, 8:30 which gives mommy and daddy a couple of hours to have a glass of wine, digest the day, watch a show or two. Quinn is woken and fed one more time before going to bed for the night, usually around 9:30, and she is so snuggly and sweet at this time (and rarely throws up that bottle) so we often argue over who gets to feed her rather than who has to stay up with her for the hour.
What is your favorite way to spend a family day?
I just asked Reid this question – he woke up a bit early today and is snuggled with me under a blanket on our comfy chaise – and he said “going to the beach”. I wouldn’t have come up with that but it may be true. The boys – in true little boy fashion – loooove the beach. I mildly tolerate it (fair skin, sticky Long Island ocean and a dislike for humidity work against me) but it’s peaceful under the umbrella watching the boys have at it.
In general our favorite family days are combo days – where we get out and go in the daytime with friends or family and come home and relax and snuggle up at night. We have a fire pit that we bust out every so often and make s’mores. That is so much fun, the boys are in awe of the fire (and a bit fearful, thankfully!) and s’mores are just yumm-o haha.
Can you tell us about Quinn’s journey to get diagnosed with Niemann Pick Type A and her diagnosis?
Quinn was born 15 days early at 8lbs – a big ‘healthy’ girl, right in line with her big healthy brothers. Right from the beginning Quinn had trouble keeping anything down and she was moved on to Alimentum in the hospital, fearing reflux due to a severe allergy. Things got no better over the following 2 weeks and at 14days of life, we took Quinn to the ER as she had kept nothing down in a 24-hour period and was beginning to act listless. They gave her Pedialyte, which she miraculously kept down, and ran a ton of bloodwork. It came back that her direct bilirubin count (different from the bilirubin that causes jaundice – that’s indirect bilirubin) was incredibly high (8.8, it should have been less than 1), indicating liver dysfunction.
Quinn was released but was in a gastroenterologist’s office the next day. She was admitted to the local children’s hospital at 19days of life for Failure to Thrive (FTT) and was there for 5 days. Colin had severe reflux (alkaline) as an infant and I just knew this was different from his issues. Quinn literally choked down each bottle and within a few minutes it came right back up. We finally got them to do a swallow study where it was found that she aspirates on water consistency liquids and did much better on thickened feeds. She had a million and one tests while we were there, mainly focusing on any hepatic-related issued because of the bilirubin count. The count did come down over the course of the week and had reached 4.18 on day of discharge. Still far higher than the <1 it should have been but less than half of what it was only 9 days earlier.
We continued bi-weekly hepatic blood panels on Quinn to follow the bilirubin count as well as additional testing. Her bilirubin continued to drop, but not nearly as dramatically as it had in the hospital and it was still elevated. In early July it was decided that she should have a liver biopsy – mainly to rule out a condition called Biliary Atresia – just to be sure. The results of the biopsy on the biliary atresia diagnosis came back within a few days as negative but they said they were sending it out for an electron microscopic analysis. Those results took 4 weeks – and at the time we thought the anticipation was the worst part (little did we know).
On August 16th, Quinn’s 3month birthday, we were summoned to Quinn’s gastroenterologist’s office. Never a good sign. They originally placed us in an exam room and right up until the nurse came back, Brett and I were laughing and joking about how we would never let her live this down, how we’d heckle her as a teen for all that we went through in the first few months of her life. Then the nurse came back and said she had made an error, we were to meet the dr in the conference room. I kind of lost it. When the gastro came in – carrying a stack of papers – he started asking how she was doing. I responded as though rebelling against an oppressive parent, “She’s FINE!” and I began cataloguing all the wonderful things Quinn had been achieving. The underlying message was to take your stack of ominous papers and GO SCRATCH.
The physician began to explain that the cells in Quinn’s liver were “spongy”, indicating a lysosomal storage disorder. I had been given the heads up by my pediatrician 2 days before that this class of disease was something they were now concerned with so I had done a bit of reading on it and knew quite how serious it was. But there had been plenty of theories as to what was causing these anomalies in Quinn – and I truly believed they were just that, a bunch of anomalies. Faced with physical evidence, though, all of that defiance left my body. When “Niemann-Pick Disease” was uttered, I literally jumped out of my seat. The dr was surprised that I had even heard of it but it was only because I had just read about it the day before. Brett was blissfully unaware of the severity of the disease until the doctor finally left and he turned to his trusty iPhone to get some info. I’ve never seen my husband so …
…ok, so this is where I stopped and why this has taken so long. I could not – cannot – think of a word to describe it. I have never seen him so [insert indescribable adjective here].
The diagnosis was confirmed via enzyme assay 8 days later.
Quinn and mama
I know you have decided to focus on palliative care for Quinn and have made her a list-can you tell us about that and your plans for her future?
(“Future” is a word that makes me shudder when it used to be a word I relished. Our future vision doesn’t extend much beyond early next summer.)
We are now in contact with a palliative care team from a local extended-care children’s hospital. At this time, Quinn is thankfully not in need of anything but we wanted to meet the team and access the non-medical resources, like the social workers and child life specialists for advice on how to handle the boys. The only intervention we are anticipating is a g-tube (a feeding tube directly to the stomach) because it will actually give her a better quality of life since she has such a hard time with the swallowing and her ‘power hour’ (Quinn needs to be kept upright for a full hour without moving after each and every feeding, limiting our fun time). Outside of that, her comfort is our number one – and really, sole – priority.
Quinn’s List is a compilation of ideas of our own and family and close friends of things that every-one (-girl, -American, -child) should do during their lives. Some are trips (Disney, of course!, Washington DC and southern Maine – our family’s favorite summer spot), others are simple things (swing on a swing, get a manicure/pedicure). We are inviting friends and family to join in our fun and will be chronicling it on the blog for everyone to share.
Is there any way people can help with Quinn or your family?
Reading our blog and learning about Quinn will help us make her mark on the world for her, since she won’t have the opportunity to do so herself. Our amazing friends and family are also hosting a benefit in Quinn’s honor at the end of January to raise awareness of NPD and funds for our family to complete the list for Quinn – with Quinn.
Is there anything else that you want to share with us about your family or Quinn?
Just to take away what an amazing baby this little girl is. It sounds crazy but she is our easiest, sweetest, happiest baby of the three. As her Physical Therapist keeps saying, she doesn’t know she’s sick. So we’ll keep pushing for the next milestone, another day of comfort and happiness for as long as we can.
I cry everytime I read this and see Quinn’s sweet face. Especially the one of Eileen holding Quinn and the look of love in her mama eyes. I want life for Quinn.
Thank you so much Linzer family for sharing you beautiful life and story with me. I am so happy to share you with all of my friends and family. I could not have gotten through our journey with Trek without them.
Eileen has started a blog for Quinn. It is brand new so you can catch up really fast and then follow along in the coming months as the Linzer’s give Quinn the most beautiful life.