Our Diagnosis Story
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- เผยแพร่เมื่อ 26 มี.ค. 2023
- Hi guys!! In this episode, we break down our daughters diagnosis story. Our daughters have a very rare disease called Congenital disorders of Glycosylation (CDG), and we dive in and talk about how we've navigated through that journey in hopes it may help someone or better guide you in supporting anyone who has gone through a similar situation.
Make sure you’re subscribed to the channel and follow along for some more exciting episodes coming soon!
Instagram ▶ / shannonwillardson
TH-cam ▶ / @willardsonfamily
#FamilyMade #podcast #marriage
Rare diseases are hard. I’ve just turned 50. I found out I had my 1st rare disease at 27. Added 2 more by 40. They know there is more going on. However it’s very hard to get diagnosed. So many things to rule out.
It is beautiful to see parents like you! Your love for your children shines bright! They are all beautiful children! Your advocacy for them & willingness to share is heartwarming! I’ll keep you in my prayers!!
Your story touches my heart! I have a son with Lennox Gasteaut Syndrome, which is also very rare and we are also apart of NORD (National Organization for Rare Diseases), we experienced over 100 seizures a day and it wreaked havoc on our family! Thankfully, we advocated enormously for our son and stood up when we thought certain medications were not helping him. We have currently blown standards out of the water and have become almost seizure free (which is unheard of with this disease) because we have tried different medication. When we thought we would never get past certain milestones, here we are now looking back in disbelief. We did not think we would ever get to this point.
Keep your head up, your hearts strong and full of love!! Sending you buckets of prayer!
I have a son with this as well. Can I ask what are you doing that has improved the seizures?
I hate when Dr.’s brush you off and don’t listen. Glad you guys advocated for your daughter and pushed.
Advocating for yourself is the new healthcare system for sure.
2 of my three grandchildren have rare genetic disorders. One has Rett Syndrome (around 8000 in US) and the other has Congenital Central Hypoventilation Syndrome (1200 worldwide). Neither were inherited. It has been a rough ride but man the blessings along the way!
No judgement just love sending your way. You two are amazing and wishing you all the best with your family. Thanks for sharing. God bless you both💜💚💛
I admire your fight for your children. They have such loving and patient parents. ♥️
ERs are horrible for not listening! I had a central line for a number of years, and I had numerous line infections. No matter what the exact bug was, my body reacted the exact same way. I would go to the ER, and when they asked me what I was there for at the front desk, I would tell them I had a line infection. Every single time they would ask why I thought that, and I would have to explain it, but I could tell they didn’t believe me. My accuracy rate? 100%. I know my body, and I know when something is wrong.
Completely agree about doctors caring, but distant at the same time. My transplant surgeon was amazing, he saved my life without a doubt several times and I was devastated when he retired. I am so glad he was my doctor. He literally came in to check on me sometimes when I was in-patient on his day off. But was I a project for him, in a way, because he was starting a new clinic for a type of transplant he had done before but the hospital hadn’t? (I was the first!) Absolutely, but I can’t let that bother me. He couldn’t have done better for me. I have beaten the odds because of him.
I am a health care professional we always need reminders of our humanity Thank you 🙏
Y’all are amazing, stellar, inspiring human beings and rock star parents! What a ride! One thing Tim told me long ago amidst his medical training was never to ignore a mother’s intuition. Your kiddos are so lucky to have you both. ❤️ Love your beautiful family.
We went through a very similar journey in trying to diagnose our daughter's infantile spasms and then eventually her rare disease diagnosis. It is crucial to advocate for your children!
Love your heart for your children and the community.
I have not had experience with this myself. Listening and watching your videos is inspiring. Makes me hopeful for the future - that there are lots of good parents and people out there. Your positivity is palpable.
God bless you.
You both are truly amazing! I am fascinated by all you have done to figure out what your girls have. I can't imagine how frustrating it has all been for you both. You are so articulate and thorough about what you have found out. Such a determined, hard working mama bear (and I'm sure dad, too) have worked tirelessly to get to where you are. I'm 73. Kids are grown but I still try to educate myself and I found your story very interesting and unbelievable. Thank you for sharing. You are both so incredible and I have subscribed, liked and personalized your Channel and plan to watch again next time. I pray that you find put a lot more information to help your sweet girls. They are so lucky to have you both. 🙏💖🙏💖🙏💖🙏💖
"Failure to thrive" is such a huge umbrella term and can be so hard to comprehend because it is so varied. We were told the same and it was never explained properly.
Failure to thrive is a subjective finding, not a diagnosis.
It’s a starting place to get insurance companies to pay for further evaluation.
That’s all.
There’s no judgement associated with FTT.
Awesome video, thankyou. We are a CDG family also, we have 3 kids our eldest daughter( 20yrs old)and youngest son (14 yrs old)both have PIGN CDG. It was along journey for us too to diagnosis, about 12yrs before we were formally diagnosed.
My daughter is the only one in the world with her two duplications on chromosome 5 so I feel you with the loneliess and weirdness do having a diagnosis yet no answers or Information
What doesn't kill you makes you stranger 😉💖
@@SilentSlept why would you call someone strange just because their child has a chromosomal abnormality?
@@GroundhogBaby… do you have any experience with medical impairments or family with medical conditions? You seem almost troll like with your comments. These videos are helpful for people who feel all alone and those with new symptoms/diagnoses.
@@GroundhogBabyI believe she meant to write Stronger, it is a known Kelly Clarkson song.
@@LarissaLifestyle0513 odd she hasn't corrected it 🤔 No she meant strange because these people are strange AF.
First time watching one of your videos. Thank you. Very informative. There is sooo much to learn in this world and in our life. Thank you. Thoughts and prayers with you and your family ❤
The 2 of you are absolute ✨✨✨ together/your love story is super 🆒. I've watched both of your videos and will continue to watch.
Prayers for your family and for healthy happy babies. You have a beautiful family, hope you and Chase can have many more of your heart desires.
Warm love and Hugs
Thanks for sharing
You are super parents
And
Yes
No Judgment
great episode!! thank you so much for sharing your story! i would love to hear further about the mental and emotional journey if you guys are up for sharing! ❤️
You two are a wonderful team, so glad your children have you both❤❤.
Wow wow this is so amazing! Crying! Hoping I can be as good as an advocate for my daughter as you guys are! ❤
Great podcast! I am a special mom also and it has been hard at times so thank you for this!
Thank you so much for this episode!! Super helpful! Would love to hear more about the drug repurposing.
That’s a crazy statistic 30%. I live in Canada and that is just slightly under the population of our country at the beginning of Covid. We were at 33 million now we are approximately 40 million. I am sorry for your girls, but you are amazing loving parents and you should be proud of yourselves. Much love and prayers to your family from Canada ❤
Beautiful family I wish you well
How are all these six steps financed for your child. Did your health insurance cover Charlie and then Ava? Your girls are truly blessed to have you as their parents. What wonderful advocates your children have. God bless each of you💞
Bless you both
My daughter was born with a very rare genetic recessive gene disease, Immotle Cilia Syndrome at age 4 at Childrens Hospital in Canada 🇨🇦. She had asthma at age 14 mths almost lost her, being misdiagnosed in ER, . She got pertussis at 3 mths hospitalized. Hospitalized at 4 mths for failure to thrive. 3 mths after lung disease dx 1 kidney dx. So first 5 yrs spent in and out of hospital. Cutting a tooth would put her in hospital with severe asthma attack. She received PT in home, at school, OT, breathing treatments. She did an essay on invisible diseases grade 7.
Now as an adult She has 4 kids and has found out she is a carrier another very rare disease KAT6B Ohdo syndrome of which 2 of her kids have, oldest and youngest, both girls. While doing the genetic testing BRCA1 showed up for mom and youngest now age 5. Two kids not tested ., no symptoms but BRCA1 not known at this time.
My Kids both went to Sick Kids in Toronto 🇨🇦! They both had a rare type of TB in their lymph nodes. (Non communicable) we all tested negative for TB. They both had major surgeries. It started with a possible non-hodgkins lymphoma with our son. Took awhile to finally get surgery. Went well in the end. We were told that our daughter (after our son’s surgery) wouldn’t have it. There were no recorded cases of siblings getting the same thing.
With our daughter we ended up driving the 3-4 hrs to the ER at Sick Kids & I had to advocate to even get her seen by the ENT. Then get past the resident ENT who thought he was going to put a needle in our daughters neck… bc it couldn’t be the same. If he had she would have been dead within a minute. Her surgery took longer than open ❤ surgery & we were told if I hadn’t pushed she would have died within days to at most a week or 2. We went through lots more afterwards, our kids now 25f & 27m are still on the registry for possible research. There have still been no other sibling cases…. Crazy life stuff. They still have no clue for sure where it came from & no other kids got it. I’m so happy your daughter had grown up & was able to have her own children. I hope each of them all grow up healthy as well!! 🇨🇦
@marciapenney2286 hi Marcia, did they do genetic testing?
Social workers help advocate and coordinate services. God bless you and your family.
Hello, I am listening/ watching for the first time.
It occurs to me that a member of staff who is specifically trained to share potentially bad news with families could be employed by hospitals so that doctors have guidance on how they relate the information! I have heard the strangest things personally and from other people!
Parents Courage👏👑💎🍀
Nine months of these type of spasms they thought were colic and yes thought it was my milk. Also sounds like she was having issues with the formula. My gitl couldnt handle. So i went to milk. Seizures from birth. Blind and deaf like helen keller at nine months. No eye blink from clapping no eye blink with finger almost touching her eyes. But the clapping issue got us to look further.
I got the bill combat autosm act i had enacted in Floridain 2005. Its q national bill changed with autism speaks as autism cares act. I used to push harder. Thanks
U didnt mention symptoms other than infantile seizures. That is important to know to help others.
Yes I know this is a year later but it popped it in my suggestions and it must have been a God thing as it’s 1am and I’m sitting here listening to this while working on my diamond painting at the Ronald McDonald house. Thank you!
Please let Chase speak.
What he has to say is important, too.
WEX test? Wes test? I am still searching for a diagnosis with my high functioning 19 year old son with CP. Where would we go to find answers? We have a Pediatrician that found a damaged strand of DNA...and wanted us to go for further gene testing. We get dismissed as they see so many concerns on the first visit...then the tests come back negative...and we are back at square one.
Just look up full genetic sequencing.
If your MD does not think it’s indicated, any geneticist will begin your diagnosis journey with a full-genome sequencing.
Of course. CP is not genetic, but that doesn’t mean there cannot be additional concerns.
You don’t have to tell me, but is your son exhibiting symptom set that leads you to think he also has a genetic anomaly?
Dang your my story!!! Couldnt hold head up or sit. Also she is about 5 mentally but 34. Back then only diagnosis they could give was autism. Non latching is now a syptom of disabilies or autism
They’re very informative but I feel bad for the husband whenever he goes to say stuff she interjects and takes over
I wish she would have let her husband talk. He is as involved as the Mom.
I suspect she has some respect for him, but it really appears that she has none.
What he has to say may not be of value to her, but it is to us.
🤩 I have a lot of Special Needs one of them is epilepsy.
❤❤❤❤❤❤❤
They tested my daughter forfragilex syndrome. And the language they used in her records bothered me. Because i didnt know my father and said things wbout my mom. They were far reaching at times my girl hasnt taken seizre meds in over 15 years. Only has them rarely and at monthly periods. If she gets dick shes had six in one day but the meds were preventing her from functioning right. Now i have a happy,unconstipated,trying to talk everyday and eats everything. Just i know that she has flare ups at times with acid reflux!
It is just "Medical Practice"
Did you breast feed and how did Charlie react
Thanks 🙏
I don’t know if it’s arrogance, ego, or both. But I’ve seen so many occasions of Drs discounting people who come in with possible self diagnosis. Drs need to realize the internet has opened up a whole new world of education & information not available in the past & they need to be more open to actually listening to parents & patients.
Agreed, let alone the idea of instinct and that you know yourself and your kids better than anyone.
I am a health care provider.
If the “self-diagnosis” includes enough actual indications, further testing is always provided.
My field is neuro, and we never discount parents’ observations. Never.
Wow and cerebral palsy too they have her diagnosed cause she has seizures.
Two autism walks and they video taped her for educational purposes they said. Never saw video. They said she was the severest they saw in 2005
I am curious what this gene mutation actually does.
Advocates
I don't see how you can smile, laugh and joke when talking about passing on a horrible mutated gene to your daughters. I would feel so guilty and be in tears. Wow, just wow. This is their life forever.
What a horrible thing to say. I'm sure these parents have cried more than their fair share of tears. This is also their life forever, caring for their girls. Nobody needs you trying to bring them down when they have done such an amazing job of coming to terms with their children's diagnosis and doing their best to give them a wonderful life. Be a better human!
@@travisvirgoe1310❤Well said.
How many times did you say kiddos in this video ? Not kids or children, but kiddos , kiddos, kiddos .
So what's your point
Seriously she sounds so dumb "kiddos". They are your children. Treat them as such.
Kiddos❤❤❤❤love this husband and wife team. Hey, they love their kiddos!
@@GroundhogBabyI would suspect she treats them better than you ever would, wow...no patience.
Have you tried keto diet for seizures ?
I hate that doctors place the blame of weight loss on breastfeeding. There are so many other reasons and moms should not feel the need to wean automatically.
Don't care for neurologist I find most don't know anything. My mother saw one in cleveland Ohio who misdiagnosed her and caused her to develop distonia from meds she never should have been on. No dr here in Tennessee can diagnose her.
Really?
Twelve years of intense education to be a neurologist and you “find they don’t know anything?”
Maybe you should be a neurologist? Since you know so much more.
Oh, have you self-diagnosed your mother, since no MD in Tennessee can diagnose her?
Join NORD.
They told me at first she had atrophy of her brain and body!
STOP SAYING KIDDOS!!!
You just typed it, lol.
Perhaps it’s regional.
Where I live, New England, “kiddos” isn’t a term I hear.
I hear it only on social media, with people living in the south and southwest.
If a term is used where one lives, it doesn’t sound odd to them.
@@JaimeMesChiens she doesn't live in the South. She lives up north and I am a full fledged southerner rebel and we don't use that term down south.
I admire your ability to articulate the stages you went through to get a diagnosis for your first daughter, with respect I didn't watch to the end.
I'm sorry but I found your constant need to interrupt your husband from sharing his point of view, distracting.
I have noticed this on the several occasions I have watched you on TH-cam
I don't think your channel is for me tbh.
I wish you only the best for the future. 🙏