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HealthIAmA father of an 8 day old baby dying of a rare genetic disorder AMA.

Mar 5th 2018 by ScheisskopfFTW • 16 Questions • 141 Points

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: https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder

Proof (if more is needed mods please PM me): https://www.caringbridge.org/visit/lilycostello

https://imgur.com/MJhcBWc

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.

Q:

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?

A:

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.


Q:

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.

A:

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?


Q:

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

A:

Thank you.


Q:

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.

A:

I appreciate that. Thank you.


Q:

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.

A:

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.


Q:

Thank you ❤

A:

It may be an option in the future.


Q:

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.

A:

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.


Q:

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.

A:

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


Q:

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

A:

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.


Q:

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?

A:

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.


Q:

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)

A:

:) thank you.


Q:

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

A:

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: https://www.caringbridge.org/visit/lilycostello

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.


Q:

Thank you! ❤❤

A:

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.


Q:

Thank you ❤❤❤

A:

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.


Q:

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.

A:

Thank you. That's very kind.


Q:

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.

A:

She certainly has. :) thank you.