Our Daughter Died of Zellweger Spectrum Disorder and We Started a Nonprofit in Her Honor Ask Us Anything!!

Hello fellow bereaved parents

We learned out first child had a series of brain anomalies not compatible with life before birth and chose to have a late term abortion. We've since had two children who are doing fine, but there was a 3 year gap in between.

During that time, we were left with a problem: children who've lost all parents are "orphans", but parents who've lost all children have no title. We didn't feel right calling ourselves parents....but what were we? What was I supposed to say if people asked if I had any children or planned to have any (which happened a lot)?

What terms have you heard people use? What terms do you use? How do you answer these questions? I feel this would also be helpful to people who have tried and lost.

Parents that have lost children are Parents.

It doesn’t matter when you lost them your love for them matters.

You are a parent.

If someone asks you say what you feel comfortable saying but you are and forever will be a parent.

Thank you

hi. It sucks. I'm sorry to hear you went through such a terrible thing. I typically hear bereaved parents but I have this discussion with friends in the "dead kid club" frequently because as we say it's a shitty club often filled with some of the best people. I really think it depends on my mood. There are days where I just don't feel like ruining someone's day, especially if it's someone I'm never ever going to see again. Some days I word vomit. I wish I had a better answer. I don't It sucks. It's all terrible. I usually just call myself a bereaved mother, but tbh I didn't when I had just had a miscarriage so, idk. I want to think about this. You gave me an incredibly good question to ponder on. I have so many bereaved parent friends sadly and I would love to hear their input.

You stole some of those words right out of my head. Especially about not wanting to ruin people's days. The nice old lady at the register in the grocery store is someone I really don't want to regale my story to. She's just making small talk, and I don't want to make it big talk.

YES exactly!

Nothing kills the conversation more than talking about your late child. I am right there with you, some days I do not say anything, other times it just all comes out. I think it also depends on my state of mind and comfort with that person.

Yes. That is also so very true as well.

First, to answer this question, like you, the answer will depend on my mood. Sometimes I’ll say that I have an “angel baby”. Other times I will not mention my daughter that passed away. And other times I will tell her story.

I just want to tell you, that when I just read your story, my heart about jumped out of my chest. I lost my daughter 26 years ago to Zellweger Syndrome. Thank you for your dedication to other families with children that have special needs. It is such a lonely road.

Yes, ❤ I feel that.

Oh, goodness ❤ hugs fellow warrior mom! Thank you so much. It is an incredibly lonely road ❤

Ok you said no questions off limits, so I'm going to get a little dark... What do you think of the idea of ending life support in a situation like this? It's 100% that the child will not survive, both the child and it's parents are suffering, and for what? There's no quality of life, no experiences that the child and parents can share together. I guess I can't say how I would handle this situation when I haven't experienced it, but I think I would definitely lean toward letting my child have a quick and painless death instead of several months of pain and suffering.

Edit: OP says that Lily was not on life support, so I was mistaken in my idea that medical intervention was keeping her alive. According to OP she had comfort care only. Also, people in this thread have taken this deep emotionally and ethically touchy idea I brought up and ran with it and are being assholes about it. Please don't do that.

I think that this is a personal choice and that we personally chose zero intervening live-saving measures. so that meant no intubation, no resuscitation, no CPR, nothing. It was all about comfort for lily. Everything we gave and did for Lily was called comfort care. Her oxygen wasn't a life-saving measure it was a comfort measure. So when she was dying we actually Turned up her oxygen, to make sure she was more comfortable while she was dying and just let it happen. we could have prolonged her life by intervening but joey and I had chosen not to. So in a roundabout way, I guess I kind of answered your question. I hope

I'm sitting here at my desk crying because we had made the same decision for our son. I held him in my arms as he was passing. it still hurts to this day.

Hugs. It sucks. I'm sorry you are reliving this trauma and i hate you are i this club with is. I blows. It still hurts for me too. Sending my love

This will get downvoted but i would just kill the baby aka end life support. It's a no-brainer.

to answer a second question, she wasn't on life support when she was born.

What items are included in the boxes? What made you include them?

LABEL MAKER: to label organizers, whiteboard, and supplies.

CLOCK: to help nurses and parents accurately chart without searching on a watch or phone.

WHITEBOARD: to keep track of important information for nurses, doctors, and parents.

SURGE PROTECTOR: medical supplies need to be grounded to protect the child.

SET OF STRAW BRUSHES: cleans out gtube, trach, and oxygen tubing, as well as syringes.

BOTTLE WARMER: warms up food for children, most NICU and PICU are equipped with one.

SHOE ORGANIZER: hanging door organizer to organize all the supplies the child will have; gauzes, tubing, syringes, etc.

SET OF CORD WRAPS: to organize the different cords that the child will have.

FILE FOLDER WALL ORGANIZER: keeps medical documents and important documents organized.

GRASS DRYING RACK: a designated space for the family to dry the child's supplies.

BOTTLE BRUSH: cleans larger areas that the straw brushes can't.

GTUBE FEEDING BRUSH: for children who have g-tubes; these are great for cleaning out their gtube connectors as they get incredibly sticky and sometimes clogged. This helps prolong the life of the connect. It is more flexible than the straw brush cleaners.

These are the items that we give the families to include in each box. Each family gets to pick what they want. That way they are not receiving items that they don't need. Some of these items were thought of by our home health nurses when we came home with lily. Some of them we didn't think of until later, like the gtube feeding brush, when reaching out and getting feedback from parents, nurses, and other caretakers.

over the past two years, we have been asking for feedback on our boxes. the one thing that isn't on this list that has been constantly changing the magnetic labels for our whiteboards that is customized for each individual child. This has been a huge learning process that has taken a lot of discussion with our board, nursing staff across the country, and feed back from our families.

the one thing that isn't on this list that has been constantly changing the magnetic labels for our whiteboards that is customized for each individual child.

For the changing magnetic labels, have you considered giving a roll of dry erase magnetic tape instead? They can literally just make their own as needed, and if they do it with a sharpie or some other permanent marker it won't be eraseable.

There's also regular magnetic tape that's somewhat cheaper; to make magnetic labels out of it you print out what you want on a home printer, trim it, and stick it to the tape.

There are a bunch more out there, these are just two. Either one seems like less hassle than the back and forth needed to customize a set of labels for each parent, but if that's what they need and you can do it for them, I'm sure they appreciate it.

Hi yes, we have!

" There's also regular magnetic tape that's somewhat cheaper; to make magnetic labels out of it you print out what you want on a home printer, trim it, and stick it to the tape. " I was doing this at one point, when you are shipping out 15 boxes at a time doing it this way, it takes roughly 5 hours.

The reason we are making the labels ourselves is to take the thought process out of it for the families. when you are in the moment, stressed, tired, and overwhelmed, you just sometimes don't know what to put on those labels. So we make them for them. We have come to what I feel is the best process so far and that's creating a refrigerator magnet that has the custom labels on it and then I have a volunteer cut them out for me. we have 6 pre-set custom label sets for our families and each set costs 2.00. I have only ever had 2 families turn me away for labels.

This sounds like a wonderfully useful set of items. Although I can’t speak from the perspective of having a medically fragile child, for my own newborn who was unable to breastfeed, we really really liked the BabyConnect app to help us log her daily feeds, my pump sessions, diapers, sleep, activities, meds, etc. it syncs across devices so multiple caregivers can use it, and can be voice controlled with Alexa. It sounds like there quite of bit of scheduling involved with caring for children like yours, so I just wanted to recommend adding a App Store gift card if you might find that helpful.

Oh wow, that's interesting and really something no one has ever brought to my attention before and you have my incredibly intrigued. legit just sent a message to one of our board members

I had a preemie with some issues and we used baby connect as well. I couldn't find a free app that did everything we needed. My child's needs were not as complex, but we were tracking meds, as well as everything the other poster mentioned.

This is interesting to hear. What helped you the most on the app?

Especially when we were back at work, but even before if I was like sleeping when my husband fed the baby, I'd know when the baby ate and how much, and which meds he had. We also could track his total milk intake over the day and make sure he was getting enough. Syncing between all the family members was key, and you can add other caregivers with less permissions also.

We had to feed on schedule because my kid didn't necessarily get hungry enough, so knowing that it was time to feed again was useful.

Ahh so you tracked this via an app instead of the white board

I’m glad my experience might be able to help just a little! Parenting is hard enough when everything goes right- I can’t imagine what you guys went through with your little one, and to have the strength and heart to help others after the fact! What an inspiration ❤️

Thank you!

Great list, include tracheostomy tube ties as well.
You can easily wash one after another if needed.

We have asked about these before but have been told they each parent chooses such customized ones that we have decided not to.

How are so many of these things just not provided by insurance... cleaning supplies for g-tubes and surge protectors for medical equipment and a file folder for medical documents, just like, how??? I'm only the 99 millionth person to say it, but this country and medical system is an absolute mess

I don't get it either. our insurance was incredible and still, none of this was covered. and in other countries its not covered either. We are a global organization. We have sent our boxes to 5 different countries outside of the US and those countries all had different healthcare systems from the US.

Wow. This strikes me as a very thoughtful list. I like it

Thank you so incredibly much!

What about washable/re-usable tubie pads to go under the gtube.

We have definitely thought about that. We however worry that broaches more into a care product and not an organization product. there is the also aspect that each kid is so specific that we do not want to be liable for a child reacting to something we provided that touched their skin. For lily, she needed split gauze and split gauze only, washable pads didn't work for us. There are a lot of organizations that provide these products as well as similar products for trachs.

This is very generous. Y'all are doing some real good here ❤️

Thank you!

I have a question about your future, actually.

How do you intend to broach this topic with your child or any future children? If odds are that they will at the very least be carriers, do you have any plans to let them know what to expect if and when they decide to have children of their own? That may be WAY too far in the future to even consider yet, but I'm curious!

This is an AWESOME question. So we actually already know that Lucy is a carrier. And we will absolutely let her know that she is long before she is old enough to have children should she choose to do so, that she is. We hope that she will want to be involved in both the organizations that we work with, which means that she will probably have a great deal of knowledge on this topic.

I wanted to ask if you had any embryos that didn’t carry the gene? I know IVF is an incredibly difficult and expensive process, so if you didn’t have any non-carriers, that makes sense. But if you did have embryo(s) that weren’t carriers, why did you opt to transfer an embryo that did carry it?

We did. There were two make embryos that weren't carriers and both female embryos were carriers. Plain in simple both our females we of slightly better grade and we wanted another girl.

I know nothing about ivf, does better grade mean more likely to be a successful pregnancy?

yes it does. Technically. But i mean things can always go wrong.

How many families do y’all support right now?

Ooof I want to say we have supported close to 350 families. Which by far surpasses any goal we set. we set a goal of 40 in the first year. We hit 90. and we are now into our 3rd year.

I'm sorry there's such a need for your services, but glad you've been able to be so helpful.

it sucks but I'm thankful we can be here. And I'm thankful we are able to continue to support people

Wow. Over double your aim is really impressive. It looks like you've kept up your amount each year as well.

Yes, we have continued to double, and this continues to amaze me.

Hey OP. I did my thesis on peroxisome disorders including Zellwegers. I saw a little of the effects this rare disease can have on families. I just wanted to say thank you for the work you are doing. What a beautiful way to honor Lily.

Wow! that is awesome! Thank you. What was something that you were surprised by in your education?

Why wasn't your daughters condition spotted before her birth? Is this a failure of your care providers? Or is ultrasound unable to see it?

Unfortunately, it is not something that you can see by ultrasound. If you know ahead of time, it can be detected by in-utero genetic testing, but not by ultrasound.

You said that your daughter was missing a large part of her brain... how was that not seen in the ultrasound? Just curious how/why that wouldn’t show up?

Thank you for opening up and sharing your journey, I wish you the best.

You cannot see the fine structures of a brain on a fetal ultrasound. An ultrasound could detect anomalous head size or shape, but not if she was missing her corpus callosum or a loss of myelin (most likely the case, as this is Zellweger syndrome.)

correct on what was missing :) thank you

Was she missing the corpus callosum or myelin? I am currently going through this right now and am just curious.

So I know at the end she was missing myelin and if you looked at her MRI when she was two days old, most of the right occipital lobe/ cerebellum. From what i can understand by the progression of the disorder, the corpus callosum was more than likely degraded. But I don't remember them stating that in the MRI and I don't remember seeing it in the images. And for my protection her files have all been hidden from my online access (I can request them, but I have to go through that process)

You know, I asked this question time and time again. Like how could one miss this??? i just didn't get it. I later learned that you don't see that in depth on an ultrasound. You just can't see it apparently. Even on a fetal MRI inside the womb it's still hard to see as some moms have had it done. I don't know why. As I'm not a radiologist, I would LOVE to know the why.

Is there any preventative testing since the cause of the disorder is genetic? Also is there any in utero testing? As a father, I can't imagine what ya'll went through. Much love.

Standard genetic testing does not test for our specific genetic disorder. However, if you are aware that you are a carrier and your partner, you can get tested while pregnant to see if your child is a carrier or affected by the condition. If you are not pregnant and know you are a carrier. I personally think it is wise to have your partner tested for the same genetic condition to make sure they do not carry it. But the regular run of the mill stuff doesn't check for it.

Can I still donate outside of the US? ♥️

YES absolutely! I know FB and Instagram do international donations, our personal donation platform can do international donations, and Paypal can too :) Thank you for asking. It is incredibly kind.

Done via PayPal, I hope it helps ♥️

Thank you so very much! We greatly appreciate it. any amount helps!

How are you both doing?

What do you miss the most about your daughter?

I hope you find these questions genuine, I saw in a previous AMA that you didn’t get asked questions like this a lot. Hope everyone is doing well.

I am doing ok Joey is doing ok We have good days and bad days. Both of us take anxiety meds.

I miss cuddling her and smelling her skin. That might sound weird but I really really miss her skin. It was so so soft and smelled so good. And she gave the best cuddles. Thank you for asking me this. I greatly appreciate this.

I completely understand, your own child’s skin is so unique and almost like a drug. Hang in there, we’re all here for you.

Thank you so very much!

Verge of tears this whole time, and here they come. I hope to read more about your daughter Lily as I scroll down.my mom's parents lost their first child to this, and it is still unfathomable in the sadness 2 generations later. Hugs to you and thank you for your openness.

I'm so sorry to hear this. I don't know if the sadness ever leaves :( which sucks. But my sadness leaving means I would forget about her. And I don't ever want to do that. It just sucks all around

What are your opinions on modern eugenics? Not the evil racist stuff, the idea that we can catch, or even treat genetic disorders in vitro or during pregnancy. I suffer from a genetic disease and am often criticized for my support of genetic engineering.

Oh gosh, I think it's amazing. To me, it's a no brainer after watching someone suffer so badly. I don't see why not. I mean even for things like Lupus and RA but I know too many people with rare diseases that modern eugenics seems like a benefit to me to HELP people. I would love to hear the push back you receive from people if you are willing to share because I think I'm too much involved in the community that would only benefit from this to see the other side.

I donated $5.

I have a tough question since nobody else has the balls to ask it. I welcome the downvotes in advance.

You said in your last AMA that using IVF you had 2 female eggs who were carriers of ZSD and 2 males eggs that weren't carriers to choose from. So you chose to have a girl who is a carrier rather than a boy who is completely healthy. I'm assuming if your daughter ever wants to have kids she's going to have to do some extra testing and maybe even IVF herself.

1. Are there any other problems she is going to run into?
2. How did you balance the cost and burden of selfishly choosing an "unhealthy" girl over a completely healthy boy?

Now for a more lighthearted question:

I didn't know it was so easy (yet expensive) to choose your child's gender. I really only want to have 2 kids maximum but I'd really like 1 girl and 1 boy. To me, it makes a lot of sense financially to use IVF to pick my second child's gender. Since if I have 2 boys or 2 girls first, I might be persuaded to have a third child to have at least one child of each gender. $15000 for IVF is a hell of a lot cheaper than a third kid in the long run. 50/50 odds. Either spend $15k to guarantee it or potentially $500k+ for a third/fourth kid until I get lucky.

1. Are you going to tell your daughter you picked her gender?
2. Will you pick a boy next?

SO i'm not sure if you are watching the stream but my husband talked about this but I'm also going to answer your question. First, I appreciate your donation. You didn't have to, I still would've answered anyway. Second, thank you for being brave for asking a tough question knowing you are going to get hit. I admire you for going into and reading the last AMA and doing your research before asking this question.

I think saying completely healthy isn't quite the right way to phrase it. Lucy is healthy. Like REALLY healthy. Being a carrier of a genetic condition doesn't make you unhealthy. In fact, more than likely, you are a carrier of something yourself as well.

Yes, she will have to do more testing and so will her partner, and we are aware of that and will be here to help with that. we made that choice so we want to acknowledge and help with that.

1. In terms of health. As far as we are aware, no there are no problems she is going to run into.
2. I have felt like it was a burden because we actually have started the process of adopting those embryos out to other families. As we do not want any more children. I felt like it was a gift. I think it's a different perspective.

So once again I think your viewpoint might be a tad skewed. Our cost was DRASTICALLY lower (50-70% less) than most people pay for IVF like this.

1. Yes lucy will know.
2. No. We are done having children. We are choosing to adopt our embryos to other families at no cost because I cannot have another pregnancy for physical and mental health reasons. We also feel that our family is complete.

How do you acquire the items that go in each box? Purchased? Donated?

Great question! Most of our items are purchased. During our fundraisers, we get some items donated, but for the most part, we purchase 90% of our items.

Follow up, do you ever find it difficult to source much needed items like sanitizer?

Oh yes, we have found it difficult to source some of our more needed and requested items. Some of them, like our label makers or bottle warmers, has become harder and harder to find and have gotten more expensive during COVID.

What advice do you have for parents/caregivers faced with a similar situation?

oh, that is such a tough question because I think it is so individualized. I guess that the biggest thing would be is don't be afraid, to be honest in asking for the help you actually need. I didn't do that and I regret it.

I recently watched a few docs on CRISPR, so this is top of mind - How do you feel about germline editing to remove genetic disorders from the gene pool?

I am VERY excited about this. It's amazing what science can do. I think this would be a huge advance. This is what The Global Foundation for Peroxisomal Disorders is one day hoping would be the cure for a lot of our families. Lily would never be a candidate sadly because our variance affects the body at such a basic beginning molecular level that it would never be effective. However, lucy's gene could be edited for her to be no longer a carrier.

You mentioned pre-genetic testing for your 2nd go around. Would that be for you, your husband, and the fertilized embryo (sorry if I’m wrong with my wording I don’t know the IVF/REI discipline well).

Also is it easy/affordable for someone to gets this genetic testing for Zellweger Syndrome?

Lastly, congrats on your daughters healthy birth!

Edit: Added Syndrome. Edit 2: I’m reading through the links provided and also found another sister term of “Zellweger Spectrum Disorder”.

This is actually a really good question as it is really confusing! So yes. We had to know both the genetic variances my husband and I carried to make sure the genetic embryologist could identify them in the embryos when they were looking at the gene puzzle (that's how they explained it to us) they also took spit samples from our parents! they needed as much information as they could possibly get. Then they looked at the fertilized embryo to see which ones carry the "puzzle pieces" and which ones didn't AND which ones had chromosome abnormalities.

Also, thank you :)

First of all my sincerest apologies for everything you went through. I can not imagine losing a child.

My question for you guys is what you think about parents choosing to have an abortion when they find out their unborn child is unhealthy/disfigured. Is this something you have always thought about in the same way, or has the process of having and losing Lily changed your view?

Thanks for your time and good luck with Lily's List, it seems like a beautiful initiative.

Thank you.

My view has changed a lot since having Lily. A LOT. I have always felt it is an incredibly personal choice however, I now feel this even more so and I do believe that people should be able to make this decision. Having to be put in a spot where you don't get to, because you are robbed of that choice and now you get to sit and watch your child live a life of misery, well I don't really think that's ok either. So, yes, it has changed my point of view.

Has anything in your boxes changed because of Covid? Like do you need more of a certain item or are there new items needed because of any changes in care that families might or might not be able to get because of lockdowns or social distancing?

UGH yes so much has changed because of COVID, we are no longer de-trashing our items, and I don't like that. This places extra trash on the families but also more bulk in our box sizes which increases our shipping costs. Our label makers and surge protectors are already the most expensive items outside of our whiteboards, but now they are even more expensive and even harder to get. I have to stay up and watch stores to see when places get them in to buy them in bulk, and that's hoping we have enough funds for us to do so. It's placed a unique strain on Lily's List that I didn't expect.

Any reason that adoption wasn’t considered to grow your family? So many children on this planet that need homes. Why bring more into the world with potential health issues? Asking sincerely, with no judgement at all. Also: I am so very sorry for your loss. It’s awesome what you are doing for these families with medically fragile kiddos.

Good question. I personally felt the need to have a biological child that was an infant. It's not actually that easy to adopt a child. It was more expensive, and it's REALLY REALLY hard to adopt when you are in the military especially in California. So yes, that's why we didn't adopt. there is a misconception that adoption is easier. It's not. and it's not for everyone. And there is no guarantee that an adopted child wouldn't have health issues either.

My wife and I lost our daughter to a congenital heart issue this year, and like you we found some comfort in starting a non-profit for her.

How did you find your niche? We are actively raising money and are working with a local hospital - but we want to find something that is “our own”. I think this is what we struggle with the most.

Ugh I'm terribly sorry. I found our niche because I saw a gap that wasn't filled. That's what I told a lot of people. I asked around a lot. Talked to a lot of nurses talked to a lot of friends. I posted a lot on social media. May I ask what you are working on?

Thanks for doing this! Is this something that standard genetic testing of parents would check for?

No this is not something that standard genetic testing would check for, unfortunately.

The Invitae comprehensive carrier panel tests for over 300 genetic conditions in a parent, including Zellweger syndrome. It cost us $250 without insurance coverage.

The Invitae comprehensive carrier panel tests for over 300 genetic conditions in a parent, including Zellweger syndrome. It cost us $250 without insurance coverage.

I'm assuming that this checks for only the most common mutations within each genetic disorder which could make you think that you're not a carrier, when in fact you might have something that is beyond the scope of the test.

I'm a carrier of a very rare cystic fibrosis mutation that I unknowingly passed onto my son, but the rare mutation wouldn't have even shown up on a carrier panel specific to CF which looks for about 90 mutations. The test which found it looks for all known mutations, of which there are currently over 2100, but the test costs a couple of thousand $.

The Invitae test would have given me a false negative result. It's better than nothing, but its not without its limitations.

THIS! This is the right answer here. Not all pex variances on every genetic test out there which is why its not fool proof

Thank you so much for sharing! I'm a 4th year med student going into child neurology. What would you like child neurologists to know about treating patients with Zellweger syndrome, or other life-ending neurologic conditions?

Oh goodness bless you! We loved our neurologist. He was so incredible. I would say, be open to listening to the parents. Especially the ones who are with conditions like PBD-ZSD or TD14 or others like that as they typically aren't throwing suggestions about medications and diets out there for nothing. It's because it's worked or helped manage symptoms for another child that presents like their child. There isn't going to be research to back this up. there just can't be. These parents are the experts on the children. so listen and be open to different options than the norm.

I believe you helped my cousin and am thankful. She's a Zellweger warrior now. She's taught me so much through her posts.

​

I know you've gone on to have children through IVF. How long did this take? Did it affect your fertility any?

Oh gosh wow! The whole process for us was about 4 months but this was much much shorter than most. We were incredibly fortunate. I am not sure if it affected my fertility because I haven't been tested since! We struggled for 18mos to conceive lily so IVF was oddly easier than regular TTC.

Have you told your second daughter about Lily? How do you talk about something so complicated with a young child?

We have. Lucy is very aware of Lily. There are pictures of Lily all over our house and even in Lucy's room. Lucy is in love with Lily. She calls Lily "Didah" not sure why but she does and she waves at Lily's pictures and she has little sister shirts and all the words. I think we just broach it as organically as we can. Kids are pretty good about just asking questions and we will just answer them honestly. Lily is always going to be part of our life.

Could « Didah » be baby talk for « Sister » ?

I think so? or Willda which is a nick name we have for lucy. It's one of those but either way, it's adorable and I love it :)

I just want to tell you that I admire you and your husband so much, especially for turning your immeasurable grief into a force for good. I was in your bumper group (with a different u/) and had a baby at the same time as Lily, and your openness from the very beginning with living through your ordeal was truly awe inspiring. It was such a shock after a long, healthy pregnancy, when you got that diagnosis. How did you manage your anxiety of unknowns with your second pregnancy?

I’ll never forget Lily.

Oh, thank you. I'm sorry I kind of ducked out. I just couldn't keep up. It was too hard.

Ugh, it was awful I'm not going to lie. It's one of the 1000 reasons I'm not having any more children. I had to take it one day at a time but I was struggling HARD like really freaking hard. almost panic attacks daily. The only thing that helped was being open and honest with my husband and taking it one day at a time.

Hello. Why as parents did you choose to “sustain treatment” until she died? I don’t mean to be insensitive. My question is that if the quality of life for her was so poor, why pursue everything to keep it going?

So we didn't actually. It was more comfort care. She chose her path. She chose her death. I know this seems odd to say a 5 month old chose her death but she did. I know she knew what was happening. Everything we did for her was to keep her comfortable and happy not to prolong her life.

I am very sorry for your loss.

I am curious about starting your own nonprofit. Looking back are there things you didn’t expect? would it have been easier to partner with an established charity? Are there other Zellweger specific charities that you network with for help?

Thank you, Lily was a huge blessing and it's all been worth it. It's actually been easier than I expected. There isn't a single organization that does exactly what we do on the Non-medical side. Yes, we work directly with The Global Foundation for Peroxisomal Disorders, Zellweger UK, and PBD Canada. We send boxes to families all over the world with all different types of conditions. Some of them are preemies, some of them have CP or Spina Bifida, some of them have other rare diseases. We have quite a few different organizations that we directly partner with to network with. Some of them are NICU organizations, some of them are hospitals, and some of them are other Rare Disease organizations.

Are you planning on saving any money for your daughters potential IVF if she chooses to have children in the future?

My daughter has a genetic syndrome, although much less serious she would have a 50% chance of passing it onto her kids if she were to conceive naturally.

Just wondering if you had any thoughts or insight into that.

We will definitely pay for it should she meet a partner and choose to have children with the person AND they are a carrier for Zellweger syndrome as well. Although rare. It could still happen like it did for my husband and i.

I'm so sorry to hear about Lilly, but she had a great time on earth and was awesome to have you guys as parents.

I'm a statistician and I spent quite a few years with genetics. My question will be academic, and kinda insensitive. If they could test the kid, what is the rational that they be carriers, instead of not being carriers? As carriers yourselves I'm almost certain you must prefer your kid not to carry the recessive gene at all?

So I'm assuming you understand the basic genetics of an autosomal recessive condition. So a few factors played into our decision. One was that lucys embryo was of higher quality, meaning she was more likely to implant after the transfer. Secondly, selfishly, joey and I wanted another girl. We knew the sexes ahead of time and we had two girls. Both girls were carriers of the genetic condition. we knew this. However, we also knew that it is a possibility by the time she becomes of the age of wanting to have children (if that's her choice) CRISPR will probably be available. Meaning we can have her gene-edited. And if it's not, her partner or donor can be tested. So there are options. We loved having a girl. Was it that absolute right choice... hell if I know. But that was the choice we felt we should make and I don't regret it one bit.

Are you guys both carriers of the disorder or just one? I recently got tested and I am a carrier of the Zellweger condition and my husband still needs to get tested.

We both are. Zellweger Spectrum Disorder is an autosomal recessive disorder so both partners have to be a carrier of the condition for it to be passed to your child. I am sorry to hear that you are a carrier but most people are a carrier of something. I truly hope that your husband is not. If he is, please feel free to reach out to talk!

We lost my cousin last year. Due to life, none of us had the chance to grieve. Very different circumstances, she was 33, but our family is still shattered and my uncle, who was a single dad to just her, is having a very hard time coping. Aside from therapy, which we have been trying like heck to get, do you have any advice on how to deal with losing a child?

Talk to those you are comfortable. Say their name. Find a purpose. Fight for things.

What's your single best piece of advice for parents that might be going through a similar situation?

PS what a beautiful way to honor your daughters life. I wish all the best for you and your family.

Don't be afraid to ask for the help you actually need.

Thank you so much!

Are you Angels? I've seen you on reddit when we had our daughter. I couldn't get the form submitted at the time but was so happy to see you helping families like ours. I just got it to work and filled out an app this time. We were also blindsided with our daughters diagnosis.

First it was microcephaly. Then after a ct and mri we learned she has schizencephaly and polymicrogyria. We have gotten her seizures under control mostly and had to go with the gjtube because her meds took her appetite. During the pandemic nursing has been hit and miss. Lots of call outs, lots of people getting sick, lots of new nurses coming and going. I think the white board was a fantastic addition to the list. It really makes it easier to communicate with nurses and each other when it's all written down. I wish there was an organizer for medical equipment haha

Have you noticed a nursing shortage throughout the pandemic? I was told it's everyone having this problem. It makes sense.

Oh you are so sweet. I am SO GLAD you got the form submitted!!!! we have specific GJtube labels too. so we will make sure you get those as well.

our whiteboard was a lifesaver in communicating to the nurses! especially when she was having back to back seizures. The shoe organizer helps with some of the equipment. I know a lot of our families use the little target cart to organize things. we've wanted to supply those but they are just so large that shipping them just isn't logical.

There has been a HUGE nursing shortage. We have quite a few families that cut their nursing completely. because it was just too much. The constant call-outs were just way too much.

What's your favorite cheese?

hahaha I get asked this every year! I love it. Brie!!

My families situation is remarkably similar to yours. My niece named Lillie who I am very close with was diagnosed with Zellweger syndrome shortly after birth and is now 2 years old, she also suffers from seizers and has poor hearing/eye sight. She laughs and cries but for the most part is non communicative and everything we do for her is to keep her comfortable and happy, so we're constantly on the look out for new toys/entertainment for her. Do you have any recommendations?

Oh gosh I'm sorry but i'm glad you found us! Have they connected with the gfpd?

A good resource to check out is https://www.thegfpd.org/single-post/2020/06/05/building-our-little-room-e2-80-93-follow-up-from-e2-80-9cdiscovering-our-connections-g

A little room would be amazing for her! Light bars are great for this as well. This YouTube video would also be a great watch on different types of toys for her. This is directly from a parents perspective who has a child with pbd-zsd and the child is the same age as your niece! https://youtu.be/KfV2YIK0cc0

My 2nd child surprised us with an autosomal recessive genetic metabolic disorder as well called Medium chain acl-coA dehydrogenase deficiency. His odds were 1 in 15,000. What were Lily's odds?

Oh man, I am so sorry to hear this. Lily's were 1 and 50,000. How is your child doing?

I'm so sorry your family went through this. It's a common belief that marriages suffer after a child is lost. Was that your experience? How did you and your husband work through this?

This is very very true. I am very fortunate that we are not one of them. And I believe part of this is because we were in therapy together but also because we had been together for so long and we knew how crucial communication was. Especially when grieving. Learning how each other grieved was really important for us. we did not know how different each one of us grieved.

I cannot imagine being sent home with a medically fragile child and no support. Have your boxes evolved at all given the state of the pandemic and families being sent home without nursing support?

It's terrible. Like absolutely terrible. Our boxes have evolved a lot because of the pandemic. we receive our inventory differently. we don't de-trash our items, our boxes prices have increased because item prices have gone up because of covid and our demand has gone up significantly because there is a lot of families without nursing because it just isnt't safe.

Without knowing about the actual genetics, is there not a chance that your child (via genetically screened IVF) will have descendants with this condition? What do you think about this, or is it not possible (or only if the other parent also has a recessive gene for this??)

It is possible, and we will encourage all of those descendants to be tested.

/u/sstarlz gave a really perfect answer to this question.

but we will encourage them to be tested.

So these might seem like odd questions, or might be answered if I did more research so excuse the ignorance if that is the case.

Firstly, was there a noticable physical aspect to your late daughter after birth and during her five months with you? Or other than the medical attention needed did she appear normal? This is honestly more a curiosity about the condition than anything else.

Secondly, do you or would you regret having her if you had known about the condition prior to birth, it may sound harsh so I am sorry if its offensive. But had you of known in advance do you think you would still have carried her to term? I ask because friends of mine found out within their countries legal term for regular abortion, and obviously the extended terms for medically necessary abortions that their child was missing most of their vital organs and would only survive hours at most post birth, and they still chose to carry him to birth. Its something we have discussed on many occassions both at the time and in the years since, and while I respect every parents process and decision it also breaks my heart to picture myself having done what they did and their photos of him are always a stark reminder when I spend time with them that I just cant get my head around it and think it would break me. Obviously for some context your regular stance on abortion is something I would like to know to quantify your answer. I again cant stress enough that if I am asking anything too offensive or personal feel free to pass.

Thirdly, do both parents need to be carriers or is there still a chance with just one? Again this is more a hypothetical question but asking someone who has had to consider some of these things and been through the experiences of the worst case scenarios seems the only way to gain any true perspective. I assume your daughter has been raised fully aware of her condition and will take the sames steps as yourselves should she choose to have her own children.

The final question is kind of a two parter with a small assumption on my part.

Mostly, how do you get over something like that, losing a child were it my first just seems insurmountable, I have been physically apart from my son for 1.5years now and its killing me, honestly the only reason I endure is for him, and the future and even then its far from manageable. And that is knowing he is healthy, not wanting for anything and able to video chat with me whenever either of us want. If something happened to him, from day 1 to right now, given my reaction to our seperation I am 100% I would not be able to go on in any reasonable state.

Do you feel having another child became your "purpose" or the light at the end of the tunnel, or had you processed the situation and accepted it before you began that journey? And if you couldnt have conceived a healthy child do you think you would have been able to push on?

I mean I am glad you did, and what you are now doing is amazing, but in your shoes I dont think I could of got there, and ultimately my questions are all kind of related to that fact.

Yes, her tone. she was super floppy. like a rag doll. and then her head was super wonky in the back. but other than that tbh... she looked pretty normal. I'd like to say she's pretty cute.

I don't regret lilys life. Joey and I have had this discussion a lot. I don't know. It's hard because I would do it all over again. Honestly. Every moment with her was amazing. even with the awful things. I think in the moment you have no idea what you are going to do. You always think you will. But you don't. The one thing i would say to you is dont be scared to talk about him to your friends. He is still their baby.

For our specific condition both the parents need to be carriers. Yes lucy will be raised to be fully aware of her carrier status.

I don't think you ever get over it. It just isn't possible. But just keep going. Keep moving. find a new normal. I felt like i didn't have any other option but to make her life have a purpose.

Lily gave me purpose and made me a better person. Lily's List fuels that purpose and Lucy kind of soothes my soul. I think it would have honestly been a heck of a lot harder to push forward without having a healthy child. She is was kind of completed my circle. She is pure sunshine in human form. I never thought it was possible to birth two daughters who radiated so much light in my life but I did, and I am so incredibly lucky to have that.

Thank you so much for doing this AMA. I find it very informational as I am also a carrier of ZSD. My husband still needs to get tested to see if he is also a carrier but I am curious about the cost of IVF. If you don’t mind, how much did it cost for you guys?

I saw someone mentioned $15K but I wasn’t sure if that was true.

Hi! great question. so for us, it was $15K because of the military health system that we use. Typically it is our $30K . I hope your husband comes back that he is not a carrier.

Did you ever have moments where you were angry at the universe?

Gosh, all the time. Especially in the beginning but I will say the I think Joey struggled more than I did with this. And that's possibly because I have always been more of a half glass full person.

How were you unaware? Would this not appear on a screening or ultrasound?

No it does not

Sorry for your loss.

I'm trying to start my own non-profit biomedical research group to build life saving materials and devices. How did you go about raising the initial funds for for such things as the tax filing documents?

Thanks.

Oh wow that sounds incredibly interesting. I did it via social media and I was very honest about what I was asking for money for. I stated that I was raising money for lily's list to file our tax documents.

Thank you for sharing your story. What advice would you give to the family of someone who has a child with a lethal genetic condition? How can family members best support the parents of the child?

Sorry if someone’s already asked this but I didn’t see a similar question. My SIL’s baby has a rare genetic condition and the baby has only a small chance to live after birth. It’s very difficult to know when it’s “okay” to talk about it and when she just wants to talk about anything but. I don’t want to upset her by talking about sad things, but I also don’t want to ignore the existence of my nephew who is already so loved by our family. Thank you!

Say their name. don't just ask how to help, give them options. listen to them when they actually do ask for specific things. Try REALLY hard not to do what YOU think you want because often it's not what they want. Some people want food some don't. Some people want help cleaning up, for others that sounds like just the worst thing ever. I would just ask. and Listen. try really hard to listen to her cues. you'll kind of start to feel when she wants to talk about your nephew and when she doesn't.

When it comes to terminal illnesses, sometimes people struggle with what to say and do for the caregivers. What are some especially helpful and kind things people said or did while you were navigating Lily's illness? What things did people do or say that maybe seemed helpful/sympathetic to them, but weren't so much for you?

This is a hard question for me. Some of the best things where doing the simple things like taking out the trash, doing our dishes, walking our dog. y husband and I coined the term with our therapist of "well meaning morons" during this time where someone asked what they could do to help and I would ask for something specific and then it would just fall flat. That wasn't helpful. If a person is being brave enough to ask for something intentional, follow through with that. It was really hard for me to do that. I had a friend who knew I needed to take walks and get out, so she would simply offer that. That was all and nothing more. it might seem small to others. but for me that was so much more than a stinking casserole that i didn't want anyway. My group of friends remembered me talking about how much cooking kept me going, so when lily died, instead of a meal train, they got me a instacart gift card. so i could keep cooking but didn't have to go to the store. Listening is HUGE here. I think i mentioned that once. but boy did they listen and I will never, ever forget that.

I know people are never really over death, but how long did it take you to get to the new normal?

oh man, this is a great question. I really would say 3 or four months. It took me getting lily's list up and running full time and working in another job part-time. it took me learning my grief swings and knowing what times were ok and which ones were. But I know not everyone is the same. Having something to focus on was crucial though.

Does this disease cause you to die or can you stop it?

This disease does cause you to die

Why are you so excited about your daughter dying?

What makes you think we are?

[deleted]

no