Last week my daughter Lily was born. Two days later my world was turned upside down. My baby girl was diagnosed with Zellweger Syndrome, a rare (1:50000) genetic disorder that is incurable. Over the last week, my wife and I have been attempting to put our lives back together.

I am hopping this AMA will bring some awareness for Zellweger Syndrome and possibly help anyone that may find themselves in a similar situation.

More info can be found here:

Proof (if more is needed mods please PM me):

EDIT: Many people seem to be afraid to ask insensitive questions. PLEASE ASK WHATEVER YOU WANT.

EDIT 2: A couple of folks have graciously offered to help in case we would like to adopt. We do have a GoFundMe that can be accessed via the caring bridge link in the proof section of this post. I really appreciate everyone being so supportive.

Comments: 110 • Responses: 31  • Date: 

Duzlo39 karma

First, I want to tell you that I have the deepest respect for you and your family and I want to express gratefulness for your choice of doing this AMA. That said, my questions could and will probably be considered disrespectful or worse, but I ask them with no ill intentions.

If you and your wife had the opportunity to know in advance that your baby would be born with this syndrome, would you have aborted?

Did you and your wife have plans to have multiple children? Did they change?

ScheisskopfFTW61 karma

Thank you for your kind words. I appreciate the difficult questions. If no one asks then we don't learn anything useful.

My wife and I have been wanting to have kids since we met. Our first pregnancy unfortunately ended in a miscarriage.

If we were to know in advance I don't think I could abort the fetus. Don't get me wrong this process is incredibly painful. My daughter is blind, deaf, and has a severely underdeveloped brain, but she is still my little girly. We will only have her for a short time so we are trying to spend as much time with her as possible. I don't think I could judge anyone that would abort if they somehow knew ahead of time.

If my wife and I try to have another child there's a 25 percent chance this will happen again. Our dreams of having a family are effectively destroyed. Adoption in the US is roughly 20k. Fostering a child is also difficult because our current state doesn't favor military families because of how often we move.

Duzlo29 karma

Thank you for your honest answer. I can't even imagine how hard it is - life is strange, tomorrow the same could happen to me or someone I love - I hope that in such unfortunate case I find the strenght you showed here, opening this thread.

ScheisskopfFTW47 karma

It is an incredibly odd feeling. The diagnosis was established after an MRI. Before the test we were told there was probably nothing wrong. Then the doctors had us come to an afternoon meeting.

My wife and I immediately knew something was wrong. We were waiting in a conference room when around 6 doctors walked in. A few of the doctors were crying before they began talking. It felt weird like a movie. From that day on it's been a blur.

Some days are better than others. The hard part is wondering how we should proceed. Do we treat her like we are having a normal day? Or do we try to do something special? My wife and I are toying with the idea of having all of her "firsts". We have our camera so we will begin to buy her a toy car, a prom dress, a wedding dress etc. It feels odd but how do you live a lifetime in a few months?

llfmpt7111 karma

Oh, I had never thought about doing her "firsts" . That is a unique way to approach it (in a good way). I think you guys should just follow your hearts and it sounds like that is what you should do! I've never been in your situation so I cannot imagine going through what you two are going through. I work with special needs children, some with significant disabilities, but would never say I know what it is like. Enjoy the moments you have.

ScheisskopfFTW6 karma

Thank you. I appreciate the kind words. It will be sad but I hope it is fulfilling for her.

biznizexecwat8 karma

"It feels odd but how do you live a lifetime in a few months?"

Just wanted to say, this brought tears to my eyes. Me and my wife have had multiple late term miscarriages (not in anyway a comparison, but I find grief is relative and perspective is reality) and your question brought something up some familiar shit, man.

Our son is three now, and I've come learn every day you can spend with your baby is a gift. I'd take the hurt and the pain and the shit for one day with them, every time. Every piece of your soul it carves away it replaces with memories that are twice as strong as your soul ever was. Doesn't make it fair or right, and everyone will try to relate (grief is relative, right?), but if you can put the blinders on and focus... You can make a month feel like a lifetime. It will be for you.

Best wishes.

ScheisskopfFTW4 karma

Thank you so much for posting. My wife and I also had a miscarriage. They can truly be terrible.

We will definitely cherish our time with our little girly. :)

MamaBear44853 karma

Good God man you two have courage. What a wonderful idea. There's no right and no wrong. Only you three matter.

ScheisskopfFTW3 karma

Thank you.

MamaBear44852 karma

I have no questions for you. Only love and support for your pain, she is a beautiful little angel and I am so deeply sorry you will only have her here for a short time. Even if it is longer than forecast, it won't be long enough for such loving parents.

I hope you have a good support system around you and that you find strength in each other to face your challenges together. When her time comes to be eased from her physical limits, she will soar free from pain and be with you forever.

ScheisskopfFTW3 karma

I appreciate that. Thank you.

RobToastie-12 karma

Adoption costs $20k, but so does raising a child for the first year of their life. Sure the cost is more upfront, but it's not outside of the realm of what you would be spending anyway, so it really shouldn't stop you.

ScheisskopfFTW17 karma

We've planned to pay for a baby over the course of a year. Adding an extra 20k upfront is a bit too much for us right now.

RobToastie-2 karma

Wait a extra year, and adopt a 1 year old?

Don't get me wrong, your situation sucks. It really, really does. You just shouldn't give up on your dreams of having a family. It's not be the path you wanted, but it's still attainable, and I really hope you get there at some point.

PrestigeWombat14 karma

Wife here... the main issue is it's much much harder to adopt as a military family. We aren't ruling it out but it's not easy. It also depends on the state we are in and who we choose to adopt from. We move... a lot. So that affects a lot of this process.

As far as the money goes... we don't pay for health care, it is all covered; except for a very few amount of things. So medical expenses is something that we don't pay for. All of our baby stuff was graciously given to us. So coming up with 20k isn't that simple for us or something we can do within a year.

RobToastie7 karma

Perhaps you can get some people to graciously donate towards adoption? If that is the path you decide to go down, I would be more than happy to give what I can.

ScheisskopfFTW7 karma

Thank you. That is very kind.

ScheisskopfFTW6 karma

It may be an option in the future.

CaesarNoBacon22 karma

As someone who recently became a mum for the first time, my heart breaks so much for you and I just can't imagine how difficult this all must be. My throat starts to close when I try.

I'm so sorry.

At the same time, and I know this might sound odd, but congratulations on your beautiful baby girl. Even with the pain of inevitably losing her, you have surely glimpsed the infinite pleasure that is meeting your child. I'm sure she is a special little girl to be carrying the heavy task of touching your lives for such a short time. I wish you every extra snuggly second you can have with her and then a few more.

My question is: do you have a belief system that is helping you through this?

PrestigeWombat20 karma

Thank you. Your kind words mean so much. My husband will most likely respond as well.

She's amazing and beautiful and we love her more than words can describe. I never knew I could love someone or something so much as I love her. And I will continue to love her even after she's gone.

To answer your direct question: yes we do. My husband and I are both Christians and believe in God. It took a lot for Lily to be here and I firmly believe God placed her here to teach us something. She was uniquely created by Him and we may not know in the moment why she came to us this way. But we have faith that God will get us through this and that she has a purpose even in her short time here on earth.

ScheisskopfFTW17 karma

Lol you're response is so positive and mine is terrible.

PrestigeWombat18 karma

I still love you ❤❤

ScheisskopfFTW7 karma

We sound like teenagers texting. :]

ScheisskopfFTW15 karma

Thank you! We are absolutely ecstatic to be new parents even if it is only for a little while.

Yes my wife and I are nondenominational Christians. This may make some folks point out that this seems incredibly unfair. I agree. It is a daily struggle to see terrible parents have multiple children while my wife and i suffer through this. I do get jealously and even angry.

What helps me stay centered is my religion. In Christianity God doesn't promise that life will be fair or even comfortable. Many seemingly good people are hurt in terrible ways. If all that mattered to me was this life, I would be a salty SOB. This doesn't overwhelm me because I know the goal is the afterlife.

CaesarNoBacon7 karma

Thank you both for your answers. It is good that you have your faith to guide you through a trial such as this, but also to help you see Lily in her own divine context, which is important. Your family will be in my thoughts.

Kia Kaha (be strong)

ScheisskopfFTW5 karma

:) thank you.

satansasshole21 karma

Let me start by saying this may come off as EXTREMELY insensitive, but I hope you realize it is not meant that way. Now for the question.

How would you feel if she surprises you? One of my cousins was given less than a month to live at birth due to how underdeveloped his lungs and heart were. He managed to pull through and is now a pretty normal 6 year old boy. Given that your daughter is blind, deaf, and mentally impaired, would you consider it a blessing if she made it to say, 10 years old? I honestly only ask because I've always wondered what goes through a parents mind when faced with what many people would see as a burden.

ScheisskopfFTW39 karma

That's a great question. It's one I used to wonder myself.

I am seriously conflicted. On one hand I love her so much. I would absolutely be thrilled to see her live. Would it be a burden both financially and mentally? Yes. I still think it would be worth it for selfish reasons to have her around.

I don't think the best outcome for Lily is survival. Her disabilities are so severe that according to our doctors she will not be able to interact with the world in any meaningful way. Assuming this diagnosis holds true I think it could be considered cruel to keep her alive.

Again my opinions could change and my state of mind isn't the clearest right now. I would rather deal with the suffering and loss than watch her in pain.

satansasshole9 karma

Thank you for your reply man. Just thinking about what you are going through makes my heart hurt:(. All I can really say is I hope the time that you have left with her goes as well as it possibly could.

ScheisskopfFTW6 karma

Thank you. It's definitely a crazy situation .

realworldsealgirl5 karma

I work in a pediatric hospital with newborns and infants who often have significant life limiting conditions. I've personally worked with families on both ends of the spectrum as far as what their goals of care are. I have families who decide to forgo medical intervention in order to prevent their child from potentially suffering, even when it means having their baby in this world for a shorter period of time. I also have families who decide to pursue certain medical interventions that may extend their life, but sometimes result in suffering or perhaps a quality of life other parents wouldn't want for their child. Neither is right or wrong, these aren't easy decisions. A lot of the parents I work with express fear of being judged, so I truly hope you never feel judged by the medical team for the decisions you make because I promise we aren't judging you.

ScheisskopfFTW3 karma

Luckily the specialists here have been nothing but supportive. We hope to strike a balance between a comfortable life and helping research.

yllwrose18842 karma

I have worked with juvenile ALD and it’s absolutely devastating. It’s so rare most people never hear of it. I worked on a bone marrow transplant unit that specialized in ALD. Thinking of you and your family. I never had the opportunity to care for an infant with the same disorder, but I understand the depths of what it does.

ScheisskopfFTW2 karma

Thank you for what you do. The medical professionals here have been outstanding. The difficult situations they work in on a daily basis are absolutely amazing.

youGetNoLove16 karma

There weren't any tests that could be done before she was born?? I'm so sorry

ScheisskopfFTW22 karma

The standard testing that most women receive doesn't catch Zellweger. It's so rare that the specific genetic test is seen as a waste. Standard ultrasounds do not penetrate deeply enough to show any problems.

youGetNoLove8 karma

This has to be very hard. Are you going to try for another baby too?

ScheisskopfFTW6 karma

Right now we are unsure. There's a 25 percent chance it'll happen again.

drjonesdrjones10 karma

I am currently a 31 yr old man. My brother was diagnosed and died of ALD (adrenoleukodystrophy) when I was 4. As his brother, why did he die and I lived? We have almost the same genes. Sometimes life is weird. Take happiness as it comes. Laugh. Love truly. Be sincere, for it may be gone as soon as it is given.

ScheisskopfFTW10 karma

It's odd isn't It? Sometimes shit happens.

freedasayswut7 karma

What are the types of help friends could offer that would be the most useful?

ScheisskopfFTW7 karma

A lot of friends have asked that question. Most people want to help and I appreciate it unfortunately there isn't much anyone can do.

The doctors were very nice and helpful. They pointed us to caring bridge. It's a website that you can use to post updates on your situation. It allows you to post what's going on, what you need, etc. Here's ours:

Realistically money is one of the few ways friends can actually make a difference. Visiting is nice, but forces my wife and I to put more effort into organizing people and visitation times. Food baskets arrive in mass and then spoil.

carolinagirlbec5 karma

Is any part of you holding back in your love for her because you know how painful it will be when she passes?

ScheisskopfFTW3 karma

I would be lying if I told you I hadn't thought about it. Honestly my mind is going a mile a minute over here. I've thought about everything.

Even I if I wanted to forget her I couldn't. The second I see her my world is happy again. She's just too sweet for me not to be enamored by her smile.

carolinagirlbec3 karma

I admire you and your wife’s honesty so much. And your response is wonderful. I’ll be praying for you all.

ScheisskopfFTW2 karma

Thank you so much:)

arbitrary_rhino55 karma

I am so sorry for what you're going through. I can't begin to imagine how difficult this must be for you two. I have another tough question meant with the most respect...if it's a possibility, will you donate her organs?

ScheisskopfFTW12 karma

I don't think it's possible because her disorder has destroyed most of the organs. If I could I absolutely would.

We are trying to include her in every study possible to help others. We won't be able to save her, but getting information for doctors could help prevent this in the future.

arbitrary_rhino510 karma

All of that is incredibly selfless and noble of you and your wife. To choose to help during the worst time of your life, leaves me speechless. Peace and blessings to all of you.

ScheisskopfFTW6 karma

Thank you. That's very kind.

gummydemilo6 karma

I'm so very sorry. I've always thought our goal as humans should be to leave the world a slightly better place than when we came into it. It sounds like she has already done so.

ScheisskopfFTW3 karma

She certainly has. :) thank you.

man_0fbass2 karma

Are you spending time with your daughter? What is she like?

ScheisskopfFTW2 karma

Yes my wife and I spend as much time with her in the NICU as possible.

Due to her condition she is pretty lethargic. She sleeps quite a bit. We hold her and often read to her. Since she can't hear I rest her on my chest while I read so she can feel the vibrations. She is very quiet and calm. She also really loves snoop dogg, probably because of the bass :)

Superkoop1231 karma

You taking another chance?

ScheisskopfFTW1 karma

We may try IVF or adoption but it's just so darn expensive.

scaryterence1 karma

What are your guys' favorite ways to spend time together with sweet little Lily? Based on her reactions and responses, what do you think her favorite things that you do together are? Do you know when you'll be able to bring her home? What are your plans if/when you do? Will you have a nice little housewarming party for her (not necessarily with other people around), or do something particularly special? She sounds truly lovely and you guys are doing an amazing job at everything. A+++ parenting. Sending lots of love and positive energy your way! You guys are doing great. :)

Also, in regards to adopting (and all the extra burden that comes with it being military), having another kid and risking that 25%, I don't think you guys should think about it yet. Just focus on Lily and enjoy her while you have her. You guys will make that decision someday, but it isn't a priority to stress right now, yanno? And I hope you two have a wonderful weekend. 💖

ScheisskopfFTW1 karma

We love giving her kisses. Two days ago she was on a monitor for her brain activity. My wife and I were able to see which interactions Lily reacted to the most. She seems to like kisses and raspberries on her tummy.

Thirty minutes ago she went into surgery. If everything goes well we should have her home in a week or two. Idk if we will have family over or not. It may be too much.

scaryterence1 karma

Aww, that's adorable. And I wish you guys and Lily well on the surgery! Sending prayers and blessings, always. c:

ScheisskopfFTW1 karma

Thank you.

jwagg821 karma

Is she in constant pain? If so, how do you know?

I just want to say I am so sorry you are going through this. I SOMEWHAT understand what you are going through in the fact that you had a child with a rare genetic disorder. When I was 20 weeks pregnant, my daughter was diagnosed with CCAM (Congenital Cystic Adenomatoid Malformation). It affects 1 in 30,000 pregnancies. She was my third pregnancy but my first living baby. I had 2 miscarriages before her. So, I understand how heartbreaking it is to be given a grim prognosis after trying so hard. I was advised to have an abortion or a stillborn. Abortion was never an option. I ended up going to CHOP (Children’s Hospital of Philadelphia) and I now have a happy, healthy 4 year old little girl who is just missing a lobe of her lung. Best of luck to you guys and I am so sorry for your circumstances. I will keep sweet Lily in my prayers. Good luck with surgery!

ScheisskopfFTW1 karma

She isn't in any pain but that could change as her disorder progresses.

I'm so happy for you. It's nice to hear of kiddos beating the odds.