My daughter died from Zellweger Syndrome. My wife and I are here to answer your questions about our experience and our non-profit Lily's List. AMA!

Do you need any help with your charity? I have experience with Grant writing and web design. (Don't know if you're applying for anything, or would be interested in applying for anything.) I've worked in nonprofits basically my career, though mostly in the arts/literature. I'm sure I have some skills you could use!

That would be lovely. We are fairly new and haven't applied for any grants. We are definitely interested.

Is this condition always fatal? Sorry for your loss.

Zellweger Syndrome is a spectrum disorder. All cases prove fatal it just varies with how long it takes before you die. Some live days some live years. As very long chain fatty acids accumulate due to the condition the central nervous system is slowly destroyed.

This is going to be a really insensitive question, but would you have rather she lived longer or not? I can imagine most people would prefer a shorter life, due to the immense stress and loss of most activities outside of looking after the child.

That's a question I constantly struggle with. There were times when I felt both ways. There was tremendous guilt associated with what I perceived to be "keeping Lily around". I felt much like a person with a dying pet. Then as fast as a light switch I would suddenly want to keep her for as long as possible, to show her the world, to keep her as healthy as possible. There was never a clear line of "okay this is too much". It all turned into a moral gray area. My judgement could be easily clouded by fatigue or emotion. It's a difficult question.

Reminds me of my brother dying of MPS IIIa three weeks ago. Except it's long storage chain sugar not fatty acids.

I'm sorry for your lost dude.

My family has lost a lot of people in recent years but nothing like this. I can still see the pain and suffering weighing some of them down. How were you able to cope and even turn your experiences into positive ones to help others?

It's been incredibly difficult, at least it has for me. I'm sure Taylor will answer as well. Before Lily's diagnosis I couldn't even imagine going through something like that. Now that I've experienced it, I don't know what to think.

Watching your baby struggle destroys something in you. The seizures, screaming, and apneas are all torturous to witness. At the time it seems like an insurmountable rolling hill. Each iteration becomes even more steep than the previous, but you keep pushing not because you want to, but because you have no other option. You can't let your child die because of your inaction.

Sometimes I debated the validity of my efforts. We knew she was going to die from day two of birth. She was struggling and sometimes it showed. Every action you take as a parent in this situation brings guilt. There's no correct answer. It's a moral gray area and there's no way out.

Once Lily died things changed wildly. Suddenly there wasn't a constantly beeping alarm to tend to. There was no feeding and changing schedule. There was no medication to give. Only memories to clean up and box away. Items to be categorized; those that are thrown out and those that we keep. What do you keep? What's important? What will I miss? Is it weird that I have an attachment to this item but not that one? Should we bury or cremate? What do I say at the funeral? The funeral is over what do I do now? It's been four months already? The world moved on. The cards stopped coming. The meal train is over. We are still here and it feels the same as day one.

Instead of wallowing Taylor and I decided to try to help others. Our nurses helped us with random item recommendations that we bought. The least we can do is pay it forward to others. Hopefully our boxes help parents spend less time cleaning and organizing so they can spend more time creating memories with their kiddos. Memories are all we have left.

Wow I am so sorry for your loss and what you had to go through. I'm glad you were able to transform your grief into eating others' pain.

Thank you. Hopefully we can make what we went through a good learning point to help others. :)

I recently lost my mother. I can somewhat relate to your pain of losing someone when they were meant to have so much ahead of them. Bleibt stark

I'm so sorry to hear that.

Having gone through the agonizing caregiving process with a parent for 5 years before her death, this is the most eloquent and accurate summary I've seen. I am so sorry for your loss. Hugs & warm thoughts from someone who's been a mile in similar moccasins.

Thank you for your kind words. Looks like we need to find a new shoemaker :)

Thank you for sharing your story and for your choice to use your daughter's short life to help others.

Is there anything you are willing to share that your family/friends did after finding out your daughter's condition that you found especially hurtful or especially comforting? It is hard as someone who has not had this kind of tragic loss to know what to do or say.

Great question. No one knows what to say and depending on my mood sometimes there's nothing right to say at all. Tay and I try not to take anything personally. Most folks mean well and that's all that matters.

There are some things that can cross the line. For instance, a certain side of our family continuously disregarded our requests. We needed to constantly remind them to speak softly around Lily, wash their hands, etc. Due to her condition all of these things could easily trigger a seizure or get her fatally sick. Our requests we're met with a judgemental adherence. That got to be a bit frustrating. Another mistake folks often make is throwing the "if there's anything you need" line. Don't ask "what can I do?" This forces me to give you a task to feel important. The helpful people found what needed to be done and did it.

The most hurtful comment was made by my mother. After several visits Taylor and I decided to minimize contact with my family due to their behavior. We couldn't risk getting Lily sick. After her death my mother called me and casually said, "I would've been closer to my granddaughter if you would've let me see her more". That one hurt quite a bit.

That's a hard one. I have definitely said, "If you need anything, please don't hesitate to ask."

I think if you haven't been through that level of trauma, it's hard to know yourself what would be actually helpful.

Would you mind sharing some of the things helpful people did that where actually helpful?

Thank you for asking I forgot to elaborate. A lot of folks donated money. We we're extremely fortunate that the military has TriCare otherwise Lily's hospital bill was roughly $2,000,000.

Meal trains were also incredibly helpful. Taylor and I couldn't cook. There just wasn't time. Dropping a meal off and not trying to start a conversation is a great thing to do.

Did you ever wish that your daughter would die so that she and you could finally have some peace? It seems to me that such thoughts would be common in terminal cases, but nobody would ever admit it.

Absolutely. After the first few days home from the NICU we received an "end of life" box. It contained several medications including morphine.

I struggled quite a bit with the idea of euthanasia. Obviously I didn't want to just kill my daughter; however, what if she was in severe pain while dying? How close to death does someone have to be before you give them a lot of morphine? Giving her any pain meds could easily kill her. How much suffering does she need to experience before I make her feel comfortable while risking her death? These were tough questions for me.

I rarely wanted her to die for a break from care. I wanted her to die so it would all finally reach a conclusion. Not knowing when she would die or how it would look was the worst. It was terrifying and having it be over would provide some sort of closure. Of course right after she died all I wanted was to have her back.

I've read and seen a lot of things on the internet, but this one absolutely is the most heartbreaking thing I've ever read.

Never thought I'd be that person.

Thank you for the frank reply. It sounds as hard as I'd imagine. I'm sorry that you or anyone has to go through something like that.

I appreciate you asking the hard questions. As someone that is fascinated with the extremes of human experience I know it can be difficult to propose tough questions.

I was my Mom's caregiver when she was in hospice, until the last week of her life. All this sounds so familiar. Seeing her suffer was the worst thing I've ever experienced, and I just wanted it to be over so she could be free. But when she passed, even with the wave of relief and even though she had been unresponsiven for a while, I just wanted her back. I just wanted to see her smile one more time.

Isn't it astonishing how quickly your wants can change? I'd give the rest of my life away just to give her one more kiss.

Do you ever talk to her? I sometimes talk to my mom still, but I also have the benefit of 33 years of memories of her. But it does help to talk to her.

Good luck getting pregnant again, and I hope all goes perfectly.

I talk to her every day like she is still here. I'll continue to call her my Lilypants and Wildabear until I see her in heaven. :)

Interesting that they gave you an "end of life" box... I imagine it must take a particular strong person to do the "end of life" themselves, especially if said person is the parent. My experience is only with my cat though, had my cat euthanized by the vet 7 years ago. He stayed pretty healthy until the end, when it deteriorated quickly. After a week of whimpering I was ready to end it for him. Brought him to the vet office and I still struggled like 2 hours to say yes to start the procedure. For me, the fact that it's terminal and he's suffering were what helped me in making that difficult choice. Yet if I was given that "end of life" box, even now, I'm pretty sure I wouldn't be able to do it myself. I opted for a private cremation for my cat, and I was given the choice to push the button to start the fire. I thought I could do it, on my way driving to the place I was actually happy to get to see my cat one last time (his body was sent to the cremation place already). HOWEVER, when the staff opened the bag that contained my cat's body, I just started bawling, like a car reaching from 0-60 in 2 seconds.

I'm sorry about your kitty. It's actually surprisingly similar. Losing any kind of loved one is hard. We considered the morphine but she passed before we could give it to her. In retrospect I'm happy I didn't have to live with that.

How much did sustaining Lily's life for that long cost you? I know babies in general are expensive to care for, so this must have been a fortune.

I am so sorry to hear about this. I am currently struggling with the loss of an ectopic pregnancy at 9 weeks, which was my first pregnancy. I feel selfish for being this upset when you guys have gone through all of this with your baby.

Please do not feel guilty. We lost our first pregnancy as well. You are absolutely valid to feel any way you do. I'm so sorry for your lost.

Lily's hospital and follow on medical bills were roughly two million dollars. Luckily the military has outstanding health care. Lily had home health nursing 12 hours a day 7 days a week. We only paid $40 a month for the nursing. Everything else was covered.

If your health insurance hadn't covered so much, how would your experience have been different? Do you have anything you would recommend for people with crappy or no insurance?

We would've been seriously in trouble. I'd recommend either finding a job with great health care or leaving the US.

Is zellweger syndrome detectable by ultrasound? Would you have had an abortion if you found out early about your daughter?

Great question. In some cases ultrasound can diagnose the fetus prior to birth. In our case Lily seemed completely healthy until birth.

My wife and I are currently going through IVF to try to have our second child. In order to ensure this doesn't happen again we have paid a significant amount of money for genetic testing.

If by some chance we have another Zellweger positive child I would probably consider abortion. I'm still up in the air about it.

Is it detectable with genetic testing? My wife is 24 weeks right now, all the genetic screening and ultrasounds came back normal. So sorry for your loss, this is the type of thing that terrifies me.

Yes genetic screening could've helped diagnose Lily prior to birth. From what I understand, and Taylor can correct me if I'm off base here, Zellweger Syndrome is so rare (1:50000) that it is often not tested for.

Sorry for talking about money but what’s a ballpark cost on the ivf + testing?

For us it was 10k for genetic testing and 6k for the procedure. Luckily I have good health care in the military so it was much cheaper.

With this disorder, being so young and fragile what are the main causes of death so early on? Is it the seizures? What is the median lifespan of those suffering? I'm so sorry for your loss. I have a 3 year old and it would be absolutely devestating if anything happened to him . I will be donating to your cause.

Thank you.

Good question and thank you so much!

There are quite a few complications due to the Syndrome. Usually patients will have multiple broken bones and destroyed livers from the heavy use of antiseizure medications. They also suffer from enlarged or missing portions of brain matter. Often times the child will pass from suffocation. The central nervous system reaches a state in which it can no longer tell the lungs to breath. Oxygen saturation slowly lowers until they stop breathing.

On July 5th Lily had 40 seizures in an hour. The following week on July 19, 2018 she began to lose oxygen saturation. She went from 100% to 85% oxygen. This wasn't uncommon as Zellweger kids have apneas frequently. I went through all the procedures. I used a suction machine to clear her airway, spoke to her, held her, sternum rubbed her, and turn up her oxygen. 70%. Nothing seemed to be working. My wife and I continued trying to save her for about ten minutes until the suction machine started pulling blood from Lily's throat. 60%.

At that point I completely panicked. I've been in some pretty rough situations, but realizing she was dying was cataclysmic to my world. I ran into the spare bedroom and turned her oxygen on full blast. 50%. Nothing i could do would help. My hands shook violently and I begged her to stay. Lily stared at Taylor and looked absolutely terrified. 40%. It was time.

Taylor and I told Lily it was okay to let go and see Jesus. We turned on her favorite jazz playlist (what kind of kid likes jazz?) and held her. 30%. Her breathing became sporadic and short. Lily finally relaxed. She had heard our message and was finally giving in. Our dog Piper came and rested her head on me as I laid with Lily.

Slowly over the course of the next fifteen minutes or so my light went out.

Wow, that was deep. No family should ever have to go through the loss of a child. I'm so sorry. Thank you for opening up on such a tough subject. You are a brave family.

Thank you for the kind words. :)

How do you plan to package and ship everything in the love boxes? A white board is an awkward shape/size for shipping.

ETA: will you ship internationally or is it domestic US only?

That's a great question. So far we have assisted 15 families. Shipping can be a bit of a pain.

Currently we ship two boxes because the whiteboard requires it's own box. We are experimenting with the idea of replacing the whiteboard with a laminated sheet of the same size. Hopefully this will allow us to get the same utility while reducing costs so we can help more people.

We are currently based in southern California and ship nationwide. I would love to be able to expand someday to help anyone we can. :)

You've probably seen this already but these white boards would be much cheaper to ship than conventional ones.

What is special about the surge protectors you offer?

Those are the exact type we are looking for. Thank you so much!

Our surge protector has rotating outlets for ease of use. It's not super fancy but it does a nice job.

Just want to say after using both to help track my girlfriends blood counts (cancer), I prefer laminated sheets as I can place them anywhere and can cut to fit spaces.

Thank you for your input. We we're hopping to get some insight from folks that have used the sticky boards.

Hi there! I wonder if something like this would help?

Americanflat 24x36 Poster Frame - Thin Moldings - Black https://www.amazon.com/dp/B06WLMB3ZS/ref=cm_sw_r_cp_api_2zh.BbPMFG8VB

The frame breaks down into 4 pieces and are meant to frame a poster. They weigh nothing and can be purchased from somewhere like Walmart for 5-7 dollars.

Ohh that seems like a good option. Thank you!

I am so sorry for your loss. I had a cousin who had some complications at birth which left her deaf mute And mentally handicapped. She made it till about two before she passed, hit my family hard, we were very close at the time and my mom ended up babysitting her most of the time and with me being home schooled it let her and I Bond as much as possible, so her passing was a very difficult thing for me to process as such a young age (I was about 7-8). The reason I bring this up is after her passing the family started to drift apart. Have you experienced anything like that? It's a bit different because you are the parents not a family member. Edit:grammar

We have drifted a bit. My parents became upset when we invited my wife parents over more often instead of them. Taylor's parents understood what we needed and helped. My parents tried but it seemed like we we're hosting them in our home instead of receiving help.

Knowing that your child is dying makes their remaining time a hot commodity. Somehow my wife and I'm wishes didn't matter as much to my parents as seeing their granddaughter.

The hardest decisions are the logistical dilemmas. How many days should I allow family to see daughter? She can easily get overstimulated or sick and die "early". Am I selfish if I keep her to myself? It's so hard to have people over. I'm so tired and hosting family makes everything worse. These are the type of issues I still feel bad about to this day.

Terrific parents and I commend you.

Had you known of her condition in early pregnancy, would you have continued to birth ?

I'm not sure to be honest. Looking back it was an amazing experience and also terrible. I know that doesn't make sense but it's difficult to explain.

How are you both feeling/doing? I wish you so much luck with your IVF journey.

Thank you!

I'm pretty drained. I've been back to work for a few months now. I'm always exhausted and really don't care about a lot of things that I used to. This situation has put things into a different perspective.

What were your first thoughts when you found out her diagnosis? Did you shift immediately into "okay, so how do we take care of her best?" mode or spend a lot of time trying to process it?

Thank you for everything you are doing. I've got a friend who has had a daughter in the hospital for the last six months and they only recently got to go home, and it's still going to be a long battle. Parenthood is hard enough without having medical issues associated with it.

We we're told to come to a meeting at 1300 to discuss Lily's MRI results. I knew from that moment something was wrong. I don't remember discussing it with Taylor until after but we both felt it. After a massive struggle to hold on to fading hope we walked into the conference room. 1255 February 27th. Seven doctors around the table some of them teary-eyed. Lily's pediatrician attempted to read the results but broke when she came across the phrase "gross abnormal brain structure". The geneticist told us it was the worst case scenario. Lily would not only die, but would never see, was deaf (this changed later), and "would never interact with the world in any meaningful way". If we were lucky we would have her for 6 months.

Taylor and I immediately asked to confirm our suspicisions. We heard the term "genetic" and knew. Any natural pregnancy would run a 25 percent chance of another Zellweger diagnosis. Our dreams of having kids would die with our only daughter.

Taylor and I balled for ten minutes. We got all the "Why God" questions screamed before we realized the world didn't stop. Our daughter still needed us and no matter how we felt this was going to happen. We didn't need to be strong or hold out because it simply wasn't an option. We had to move forward.

What can people do to help you?

We absolutely need donations. At the moment we have two families about to leave the NICU that need love boxes and we don't have the funds to make it happen. Even the smallest amount makes a huge difference. If you cannot give please feel free to share our site or follow us on social media.

https://www.lilyslist.org/donate

Hi! Did you utilize your local early intervention or something similar with Lily? Were there any other local supports besides your loved ones that you found helpful?

I also just want to thank you for everything you do. Turning your experience into support for other parents is immeasurable, as I'm sure you know. I'm an EI specialist and know so many parents that would appreciate what you do. Thank you!

Zellweger Syndrome is difficult to deal with medically. The severity of the diagnosis means we could only make her comfortable. Our Navy doctors were outstanding. Lily was treated by the following specialist for her entire life: neurologist, pulmnologist, geneticist, pediatrician, pediatric surgeon, gastroenterologist, cardiologist, and a opthalmologist. Each doctor gave us their personal cell number and was in frequent contact.

As far as intervention goes we did whatever we could. There was no playbook for Zellweger Syndrome. My wife and I would read any viable study and make decisions off of that. Our docs found new therapies to try to help make Lily comfortable and we tried them.

In order to manage her symptoms we had her on the following meds: CBD oil, phenobarbital, topomax, ursidiol, keppra, a multivitamin, oxygen, and breathing treatments several times a day.

What is it actually like to deal with a baby having a seizure, or multiple seizures in a short period of time? What are different characteristics of seizures, and are there different levels of intensity? I’m sure you have to hold their head up but that’s all I can think of. How do you help him/her be as comfortable and safe as possible, and how do you get through it yourself? Were medical professionals around the first time it happened?

Thank you guys for the AMA.

Solid question. We weren't able to confirm Lily's seizures until a few days after diagnosis. In order to confirm his suspicisions our neurologist attached a "brainz" monitor to Lily. It is comprised of a bunch of needles that are inserted through the skull to measure activity.

Lily's seizures looked like a standard grandmal episode. Her body would flinch in synch for 30 seconds to 5 minutes. When she turned about two months old Lily began screaming during each seizure. Her cries sounded similar to a mountain lion's call, but somehow more desperate sounding. Luckily the screams didn't last longer than a few weeks.

Taylor and I would hold Lily's hands and be with her throughout each seizure. There wasn't too much to do besides time each one and write it on the white board. If things got too crazy we would call our neurologist and possibly give her more medication.

Jesus f*cking Christ, I am so sorry. Nobody should be put through this. In what way the loss change things between You ? I wish you only the best!

I would say we've become far closer to each other. I wouldn't have thought that was possible but it's true.

Taylor and I are highschool sweethearts. We've been together for ten years now. Combine that with the military lifestyle and you get a pretty strong marriage. This just made us rely on each other even more.

I'm terribly sorry for your loss... This really makes me sad. My sister has down syndrome and did have complications at birth, did they have to do anything special in the nicu after she was born?

I'm sorry to hear that. Lily was given an MRI and a number of tests to confirm diagnosis. Afterwards she was constantly put on a "brainz" monitor; large needles inserted into the brain to monitor activity. She was also on oxygen. Finally she received an NG tube surgery. They inserted a tube directly into her stomach for feeding because she couldn't swallow.

If it’s not too personal to ask, will you have more children/will they have the same disorder?

We are currently going through IVF to have another child. If we were to try naturally there would be a 25 percent chance our child would have Zellweger, 50 percent chance they would be a carrier and be unaffected, and a 25 percent they would not be a carrier.

What does a gift box run you guys ? I.e. if someone wanted to donate X gifts boxes worth ? Please ignore the question if you’d prefer not to specify. Thanks.

This also may be a rude question ? Sorry if so. New to this.

No worries. Right now each box is roughly $250. We try to contact the family prior to sending each box so we can find out what they prefer to have.

What was the single most impactful gesture someone did for you during this experience?

If I was to have a friend go through what you went through, how would I best comfort them?

My buddy came and took professional photos of our family. He set up a studio in my apartment and worked his butt off to ensure we had memories of our girl.

That same evening we had an emergency with Lily and he and his wife just started doing what needed to be done. They cleaned dishes, helped rearrange the house, and fed the dog. It wasn't that any of these actions were major, but that they were purely done out of selflessness that made the difference.

He's also a great photographer and Marine: https://instagram.com/denison_photography?utm_source=ig_profile_share&igshid=j5blq0an0ije

Was the syndrome diagnosed before of after pregnancy? And if so at what stage

Sorry for you loss

Everything seemed normal until birth. The doctor was concerned with how floppy Lily was. We we're transferred to the naval medical center in San Diego. Luckily a senior geneticist was able to diagnose her at two days of life. As far as we can tell this is the fastest Zellweger diagnosis in history.

I know my question is a little late but do you feel assisted dying would have been helpful to your daughter/family in this situation?

I struggle with that concept. On one hand Lily was doomed from the start. She frequently seized and had a somewhat low quality of life. As a father I wanted to stop that at all costs.

On the other hand Lily experienced life. Watching her smile when her favorite jazz tune played lit up my world. Watching her grin when our dog Piper laid near her made me feel warm inside. Her sarcastic huffs and soft whimpers as she slept made it all worth while. I wish she didn't have to suffer and luckily she wasn't in pain as she died, but I'm so grateful she got to experience happiness.

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Lol yes that's exactly it. I'm kidding.

Zellweger Syndrome is a proxisomal disorder. Remember the powerhouse of the cell mitochondria? In order for it to work it needs the proxisome to break down very long chain fatty acids (VLCFA) into long chain fatty acids (LCFA). In Zellweger patients the proxisome either doesn't work or exist so VLCFAs accumulate.

Unfortunately VLCFAs destroy nerve cells when in high concentration. This slowly kills the patient.