Learning Our Daughter Has A Rare Congenital Disorder
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- Опубліковано 15 тра 2024
- This is the story of our daughter's diagnosis, the heartache and struggle, but the ultimate love that we feel.
We're so excited to share more of our lives with you and dive a little deeper into our family. Hope you'll come along for the ride every Wednesday morning!
Learning Our Daughter Has A Rare Congenital Disorder
• Learning Our Daughter ...
00:00 - What's in this episode?
03:36 - How'd it start?
11:00 - The diagnosis process
24:31 - The prognosis
31:30 - Our second child
38:40 - Possible treatment
42:10 - Navigating the healthcare system
50:56 - Some key takeaways
56:09 - Thank you for listening!
#willardsonfamily #dontjudgejustlove #podcast
Ive been a registered nurse for 23 years. Early in my career I spent 5 years in a Neuro-Trauma ICU & I have dedicated almost the last 19 years to my #1 passion, emergency medicine (ER). I totally get what you were saying when you spoke on how some medical professionals come off as calloused or insensitive. I can't speak for all, but I can tell you from my own experience that you are 100% correct. When I first started working in the ER one of the hardest transitions for me was learning to not become emotionally invested with my patient/family & time management. Time restraints don't allow us to walk into the room & spend as much time as we want or as the patient needs. Being emotionally distant doesn't mean that we don't care, it's more of a coping mechanism. I often find myself in the employee break room (when lucky enough to get a break) reminding myself to slow down & have a little more patience, people aren't here because they're having the best day of their lives. The most important things I've heard you say is that no one will ever love your kiddo like you & that you have to be an advocate for your child. At times, being an advocate for them is just as important as being their parent. When C-19 hit my eyes were opened to a new harsh reality. I had spent 20 years thinking that we all entered the medical field with the goal of helping to cure or at least leaving the patient in a little better shape than we found them. That was perhaps true in the beginning, but it's just not the case nowadays. That may still be the goal of the person standing in front of you, but I can promise you that behind that person, there's a large corporation breathing down their neck & constantly reminding them that there is a bottom line & that line is ALWAYS green($)! Modern medicine has morphed into a business transaction between an entity & a person who is mostly willing to do what they're being told in hopes of improving or saving their life. It's geared more towards treating & less about curing. On March 5, 2021 I walked away from a job that I loved & had worked at for 20 years after I questioned motives & inconsistencies. It was an extremely hard & important decision , but the message I walked away with & that I'm sharing right now is far more important. If something doesn't feel right, trust your gut. If something doesn't make sense, question it. If someone is being rude, ask for someone else. If your needs aren't being met, go somewhere else. Our kiddos are our greatest assets & they must be treasured & treated as such! Your greatest service may very well be standing up against what's wrong & speaking out for what's right, even if youre standing alone & your voice quivers!
I've read so many stories from nurses that are similar to yours
Thanks you for your valuable comments.
Thank you for sharing this. ❤
Great comment! Thank you 🏴
Beautiful. Thank you.
I'm not in the medical profession, but I am very much the person who asks a million questions (not just about medical matters), and people treat me like I'm trying to be difficult, or give them a hard time, or not do/delay doing xyz. In reality, I'm asking questions because (and, yes, I _DO_ UNDERSTAND how completely ABSURD this is...) I want to know the answer/information. 😱🤯 SHOCKING!! Isn't it?! That the REASON why someone asks a QUESTION is because they want to know THE ANSWER?!? The number of people that I come across who DO _NOT_ seem to understand what a question IS and WHY someone would even ASK a question is extremely disturbing. And then there are the number of people who let me ask a question, but then they decide that they are going to respond with AN answer, yes, but NOT an answer to my question.
"How do I get to your house?"
"Ham. I had a ham sandwich for lunch today."
🤨 Good for you? Doesn't help ME at all, however...
I just had a pretty serious surgery, and I had called and asked to talk to a nurse of the doctor who would be performing my surgery roughly a week or so before. I had questions about what recovery was going to be like.
(Not that it SUPER matters, but I don't drive, and I get my groceries and such delivered from Walmart every week. I don't pay a delivery fee if my order is $35 or more. I was placing an order that day. I wanted to know the answer to my questions, but I also wanted to know if there was anything that I was going to need, so I could order it that day, instead of needing to either pay a $10 delivery fee, or come up with like $30 worth of stuff that I DID NOT need.)
The answer to ALMOST. EVERY. SINGLE. QUESTION. was "I don't know. You can ask at your pre-op appointment." 😲 There are FOUR doctors in this department that are trained to perform this surgery in this manner, the doctor you work for being one of them. The same surgery can be performed in a different manner, and more doctors are able to perform it that way. Again, the doctor you work for is one of them. HOW IS IT that you don't know the standard length of surgery? HOW IS IT that NOT ONCE have you heard a doctor or a nurse talk about post-op, or a patient say, "I wish I had had..." "I had xyz go get me..." "...was a total waste of time/money."
I've also been dealing with this mysterious issue. New blood tests have been done. I had seen on the app that the results of one were WAAAAY outside the range of normal. I got a call from a nurse who read me a message that the provider had written that contained ALL KINDS of SUPER SCARY WORDS and said that I needed another blood test to confirm... whatever (I'm not entirely sure most of what she said). A lot of them were words that I had HEARD, but I didn't know what they MEANT. The nurse 100% REFUSED to answer any questions.
"Just wait until you do this other test!"
"BUT I DON'T KNOW WHAT YOU SAID!!! Can you please explain to me what scaryword#1 IS, what it DOES, and what kinds of things that can make it just SUDDENLY do this instead of that???"
"Just wait until you do this other test! We don't even know for sure what the problem is, so there's no use talking about it right now!"
... That's NOT TRUE. First and foremost, if YOU are going to CALL ME, then YOU need to be prepared to ANSWER MY QUESTIONS, _OR_ have information for where _I_ can acquire the answer myself. (The department that ordered the lab and was calling me is NOT the department that would do anything to TREAT this issue.) If you are going to SAY words that are - to the general population - words that aren't regularly used abd/or might SOUND scary, even if they end up NOT being scary, you should, AT THE VERY LEAST, BE ABLE TO EXPLAIN WHAT THEY ARE/MEAN. And if YOU can not, then _YOU_ should NOT be the one to make the call.
Both nurses were mean to me for having the AUDACITY to ask questions about MY BODY and what WAS GOING TO HAPPEN/MIGHT HAPPEN/IS HAPPENING TO my body. APPARENTLY, I'm just supposed to leave ALL medical decisions to people who have never even SEEN MY FACE or HAD A CONVERSATION WITH ME?!
(I finally got the first nurse to tell me something that most patients need after surgery. It was less than $4. I'm also 9 days post surgery and haven't needed it. 😏)
(I was able to go on the app and read the note that the second nurse had sped-read to me. I still don't know exactly what it DOES say (I haven't looked it up), but I understand enough to know that what I HEARD is NOT what it was saying.... I also got the other lab done... and a DIFFERENT nurse has made the following 2 phone calls about it! 😅 MUCH more pleasant!)
Thank you so much for sharing your story, information on rare diseases, advocacy process. I have a 5 yr old non verbal daughter on autism spectrum. Viewing your stories on IG and how positive and amazing parents you both are is really inspiring. Thank you for continuing to educate and share your stories with us other special needs parents ❤ 🙌
Definitely one has to advocate for their child.
Thank God you got the diagnosis and now you have clarity. May God bless you all and you should have the strength to continue 💪
I worked in a special school and there is nothing more fulfilling seeing your students milestones ❤
I don’t have any kids with medical conditions, but this was so helpful and informative in general and regarding the health system how it works as well. Thank you!!!!
I’m in healthcare and agree that parent advocacy can be very helpful in many ways in providing the best care for medically complex kiddos
Ur short showed up randonly today on my feed...
Jesus..i can relate so much to u guys... my daughter was diagnosed with infantile spasms at 5.5 months. I wish we could have gone thru our journeys thru similar times cuz its so hard to find families that have been thru such an invovled medical process. Unfortunately my daughter never got a diagnosis, she was lumped into the CP umbrella.
The nurses referred to parents like us as honorary nurses... i wish we could correspond. It can be isolating.
You are such champion and such a great team watching you support each other is a joy! You guys rock!!!
Thanks for sharing your story so honestly and openly. My heart sank when you said your 2nd daughter was also diagnosed in utero with the same disease. But you are such an inspiration and you are the best parents these two girls could have hoped for.
Thank you for sharing your stories. I am worked in very very high risk delivery unit. And I see many different diagnosis some had great outcomes and some sad one. As a medical professional it’s very heartbroken to see all those cases. And as a person we would not service mentally. The load is too heavy to carry. Our job as medical professional to get all the answers and find the best treatment and care. And we have to focus on the patient, and sometimes we have to leave our emotions at home. And thank you so telling your store. As medical professional I will alway keep this information for my future cases.
It is sad but true that in many cases you need to push the doctors to pay attention to your medical concerns, and sometimes literally self diagnosed yourself and kind of help the doctors. Best advise you say, ask ask ask, and I will say read and research as well.
Thank you for sharing your story, it is so important to advocate for health!
You really are a perfect team❤
Thank you both for sharing your story! I’ve been a NICU/newborn nurse for 5 years and gain much wisdom from people like you ❤️
Wow you are both amazing! I never heard of this disease, but I can’t see it’s a very complex disease! Bless you both, 3 kids no down time! I think it’s great to put yourselves out there! You never know when your health or your children’s health can go in a not so good direction! Your attitude is amazing, people can get so hung up of un important issues, like my family, no one is getting along, meaning my adult Sibs, just realize how petty we are, thanks for your inspiration ☀️🫶
Thanks for sharing your experience.
You guys really amaze me. I had a lump in my throat bc I was imagining the early days of when you found out about the diagnosis for both your girls. Such beautiful advocates!
Thank you so much for sharing! Greetings from Germany from a fellow non mediacal professional and honor nurse! Keep going!
You both do an excellent job explaining these steps, advice for the steps etc. You make a good point about doctors being humans who can't know everything about every disease, while still being respectful to all health care providers.
Your kids are lucky to have you as their parents and advocates.
You are such champions and such a great team 🔥 Watching you support each other is a joy! You guys rock!!!!!
Thank you for making this, some of your points really hit different. I don’t have a rare disease, but I can relate to the diagnosis process. Getting people to actually listen to me for my diagnosis was so hard: and wasn’t even the hardest part. My grandpa has a rare form of cancer (I believe there have been under 200 diagnoses of his specific type ever?) and they had to take him to a really big hospital because nobody nearby really knew how to treat him. It has been about two years since his diagnosis and he’s off chemo now and he’s doing great! :)
Thank god for you❤❤
My now 8 year old son was diagnosed with infantile spasms at 5 months. I had no idea what I was witnessing, I just knew something wasn’t right. I took him to his pediatrician 3 times within a 2 week period and was told he was having acid reflux. And then was shown how to give him the Heimlich maneuver. It was finally after following our gut instinct and looking on Google we decided to rush him to the ER. Misdiagnosis of infantile spasms are too common among healthcare professionals. And most new parents don’t know what a seizure looks like in a baby. Early detection is so important in infantile spasms…I share my story with every new mother and father I know, and warn them to know the signs of a seizure in a baby.
It is amazing how doctors are so quick to discount things and not use their brains. The startle reflex should disappear by 2 months, so even if it was just a reflex it would still be abnormal to be seen at her age. Geez. She is so lucky to have you guys as parents for fighting for her!
You can tell how much you love and adore and respect eachother. This is the first full video I’ve watched. (My little one is currently 3 and has some delays but I’m still unsure why after a lot of testing) but the way you both apologize for cutting eachother off.. and laugh at eachother and just how you look at eachother is so sweet. Medically complex kids can really effect a relationship between parents. Im glad you 2 have survived the whole thing. My daughters dad “blames” me for our daughter.. I know that it’s no one’s “fault” it’s just how she is. It’s just sad though. And I think he is embarrassed of her a little bit
My 16 year old son has a rare genetic disorder called Syngap1. He was not diagnosed until age 12.
I would love to hear more about the research!
Good Luck for your family 🍀👍
Are you conscious that having another child could be a real trouble 👿 evetnthough it is healthy.Time goes by faster and we get older,who will take care of your children when you get older? It is not fair for anyone of your family.
Parents courageux 🌞👑
Yes, it seems as if you and your husband carry some kind of genetic mutation that doesn’t correlate with each other to cause your children to come out with these disorders, why would you go on to have more children and put them through that. All your children are a blessing and they’re beautiful and of course, keep the ones that you currently have. Why would you wanna go on to put their lives at risk? Maybe a male donor or a Sergeant who doesn’t carry those mutations I think would be better in this situation. There is no for sure way to say that the Gene
therapy will work.
It stupefies me what the hell..why would you do that you can adopt
I asked this same question. These people are nuts. It just seems so selfish and irresponsible and plain stupid tbh.
If I heard her correctly this is why they are pursuing IVF for any future children. The embryos can be tested beforehand and only the embryos without the gene mutation will be fertilized and implanted. This was their plan after they received their first daughter's diagnosis but they got pregnant naturally by surprise with their 2nd daughter. They know the risks and are taking the proper steps to keep this from happening to any future children.
New subscriber I can relate to everything you’ve been through
8:54 As a parent, any behaviors or concerns I've presented to a doctor have immediately been met with "do you have a video of it happening"
She didnt abort at 13 weeks because she and her husband discussed it and decided that they wanted to keep the baby because it was what they felt was the right thing to do.
Omg the same happened with my son it started when he was 4 months when he got he’s shots it though he was reaching for my husband to pick him up but long story short I had to push to get an eeg he stopped smiling sitting babbling I was so hurt still am but by the grace of god he’s doing better he’s delayed but the cause is a rare gene called DEAF1 now I’m lost there’s not olot of information out there god bless you and your family ❤🙏🏻🙌 I feel the same way you do
Have you done also this Maternal serum screening, at 12 pregnancy week? Did it show anything?
What about stem cell therapy? Maybe in a different country that’s further along with stem cell treatments??
Case Manager ( maybe)
What is CDG ?and how does it affect your daughters? what are the limitations associated with it?
Google it like she said
With modern technology I can’t understand why one of the first things done when a child’s diagnosis is unclear is NOT a thorough DNA analysis!
I guess it's quite expensive and you need to analyze each disease seperately
It’s not necessarily a completely computerized process. I believe a lot of it is done on a human level so that would use way too many resources
Hi 🍀👋
Amazing parents ..just seems like I missed exactly how this affects your daughters. What are their limitations?
they are on wheelchairs non verbal and lots of health issues
Birth control would have prevented the “surprise” pregnancy. If my husband or I had a genetic disorder taking it seriously is important. IVF would have eliminated much of the issues.
Eugenics is the answer then? Create humans in a lab and if they aren't perfect enough they are destroyed?
Did you read the book
The Doman Method: From Special Needs to Wellness? Maybe it will be helpful for you.
Are one of you Rh negative?
I was born with rare congenital disease and stand for gene therapy. All diseases need gene therapy that shall exist
Eating a serving of lambs brain each day might help ALG 11 CDG due to the high GDP mannose-protein content of the brains. Animal brains have the same chemical composition as our brains.
it's crazy to me how you have to insist and maybe go to a lot of different doctors to actually get a diagnosis
What is kiddo ?
kid, a child
REALLY !!! Since insurance is nt touchinf this
They did what was right for them. I am sure they know the risks. It’s not right for you so I hope and pray your child or children never become disabled if u ever have any.
Bitte mit übersetzung
Deutsche übersetzung
let your husband talk please
She is probably the one who knows all about the girls health problems
You chose this for your third child??
Exactly
@@CosmicEremite that is just so wild to me I'm so incredibly sad
No why do you think that?
@@Riley_Dances339 didn't you watch it?
@@sweetsweatypeaches1328 yeah I did they did not choose to
Also why would u have had another kid after the first having this issue? Selfish....
Extremely selfish. And stupid.
The third was an accident and they chose to keep the baby leave them alone it’s their decision not yours
Did she have any vaccines? How many?
Source for your assumption?
Are you concious that having another baby could be a real trouble eventhough it is healthy. Time goes by and we get older, Who will take care of your children when you get older? It is not fair for anybody of your family.
The older the mother is the risk of the baby having this same disorder is 10x higher and keeps rising with age
I would say, If you have nothing good or decent to say, then just don’t say it at all. These parents do not need nor deserve derision. They need support and they are doing the best that they can do to advocate for their children and making sure there are new treatments to help their children and others that are trying to navigate this sort of genetic disease in other people as well. The value of what they are doing is really a beautiful thing. Their children are loved and cared for. This video was so I invaluable and help others so much. Great parents!🌟❤️❤️
Why pur your kids all over Internet knowing they get horrible comments? Predators also on here? What's ur reason?
Can you be a bit less obsessed with them? You've commented so many times nothing but hateful shit. Go kick rocks
PURE NARCISSISM ir Munchaussen sindrom
To enlighten others.
@@marywalker2896 enlighten who about what? You can inform people of something you think is important without being an asshole
@marywalker2896 and make money why not give the money they make to a disability charity then?
The older the mom is the risk of the of the baby having this same disorder is 10x higher and keeps rising with age
Is this case is your genetic mutation happen to be more the same within both of yourself because you guys are both Caucasians? Meaning if one of you guys was let say Latino descendent or African American will there be less chances that you both have that specific mutation?
It’s about DNA not race
Why they didn’t abort at 13 weeks? Second one seams worst condition
That is incredibly unkind and rude. These children are human beings that deserve life. Ok they have disabilities but that doesn’t mean they shouldn’t be here. They are loved for who they are. It would probably be a good idea that you don’t have children ecspecially since you seem to be all too willing to destroy a life that God created.
@@shaunalea823 u are delusional with the whole god and human being bs at 13 weeks. I have 3 kids and I would abort any defective fetus if it would happen to me. Any doctor would advise them do the same to everyone
@@shaunalea823 Yiure the one who’s unkind and rude. And not everyone shares the same beliefs; not everyone believes in a God.
@@orlandoromero22 I'm sure they have given a lot of thought to possible problems and still decided to do all they can to be a happy family; sometimes we worry too much about other when they know how to live their lives. There are many ppl in the world who have some disabilities and fight their battles for being willing to live and not die. Nick Vuicic is a great example here, disabled from birth, had amazingly loving and supprotive partents, wanted to comminit suicide. Look at him today, the positive impact he has made in the world is massive. You just don't know the future so just take a step back with projecting your worries on others who decided to fight for what they belive is the right thing to do.
@@shaunalea823 God creates perfect humans. Disabilities aren't God's creations, they are the ruins in God's creations. How can humanity ruin God's creations? With vaccines, GMOs, chemicals, drugs, psychiatric drugs and other medical drugs, unnecessary medical interventions, EMF(5G), etc. God is sad, because his children are harming his little children, his new creations with these damaging things, that are NOT natural! God is nature and natural! Synthetic things are unnatural, ungodly!