Chromosome 18 Gene Dosage Map – Thank You

June 17 2025

This is the coolest, most useful tool! Thank you to The Chromosome 18 Research Center at UT Health San Antonio. I’ve been on a 2 year journey so far in trying to achieve a better quality of life for Lillian. Her quality of life has tanked to non-existent over the past few years.

(2014 photo of Lillian)

FINALLY getting to some answers and this gene mapping tool (for those of us enrolled in the C18 study) is incredibly valuable. It is a full time job keeping track of test results and staying on top of doctors and specialists to review results, and get referrals. Then referrals are denied. More phone calls, more work.

Recently, Lillian’s general practitioner referred Lillian to a hematologist for an iron infusion and to investigate why she’s anemic. They rejected it, indicating to try oral iron first. People. We are not idiots. Do they not think people would try the easiest option before the one that’ll be a headache and more work. Hematologist office wouldn’t talk to me about it. So I filed a complaint with Renown (did you know you could do that – you can!). Don’t take no for an answer when you know that you are correct.

I got a call today and they are going to have it reviewed again once the GP sends another referral indicating she has already tried the oral (she couldn’t tolerate it) and that she’s got a rare genetic condition and the anemia needs to be investigated further. GP will refer for iron infusion so we don’t have to wait.

Incidentally, they also denied my referral as I need my iron levels monitored so I don’t spiral down like has happened two times now. I also filed a complaint for myself and that’s being sent back with additional information. My dudes, I just need monitored.

All of this is so much damn work. I’m trying to get as much done as possible before fall semester begins. Hadn’t planned on sharing all of that. But, it feels good to share it!

Ultrasound to Locate Veins – Cool

November 15 2024

It’s a vein! What a blessing that they can use an ultrasound to find veins! No more traumatic experiences for Lillian. Three hours later and we were successfully outta there! Fingers and toes crossed that this CT with contrast gives us answers to the stomach and lower abdomen pain. 🙌🙌🙌

Happy 23rd Birthday to Lillian

September 13 2024

Tomorrow is the big 23 for Lillian Darnell!!! Damn! It just hit me typing that. I’ll post more tomorrow. For now, this is just to say that Lillian wants to continue the birthday tradition of a facebook live for family and friends near and far. Please join us tomorrow, September 14th, at 4:00pm PST.

September 14 2024

In honor of Lillian’s 23rd birthday. Happy Birthday to Fairy Queen Lillian! 🎉❤️🎉 We’ll be live on my Facebook at 4:00 PST for the traditional Facebook live for family and friends, near and far. Join us.

Be Seen and Be Heard – Go Lillian

April 13 2024

I need to turn the spotlight on Lillian Darnell for a moment, as I am super proud of her.

She had a nurse appointment for a shot on Thursday. The nurse asked Lillian if she would get onto the exam table. Lillian began to tell her that she needed the step pulled out. Nurse didn’t wait for Lillian to get out what she needed to say, assumed she didn’t want to get up there, saying, “Oh, you don’t want to get up there? That’s fine.”

Lillian raised her irritated voice, telling the nurse that’s not what she said, and pointed at the pull out step, saying again that she needed it to get up there.

I kept my mouth shut, letting her set fire to the air in that exam room. You go Lillian. You go! Be seen, be heard. (Also, we LOVE nurses. They are amazing!)

**For those who don’t know, Lillian is my 22-year-old daughter. She has a chromosome deletion (18p-), autism, anxiety, and mild intellectual disability. She has articulation difficulties and a stutter, making her difficult to understand. The past few years I have been guiding her to correct others when they misunderstand her.**

 

Monday Night Poetry – Mermaids of the Sea – Camilla’s Birthday

February 27 2024

My poetry friends sang me Happy Birthday last night, and treated me like a Queen. ❤️❤️❤️ Full house last night, with wonderful poetry shared.

Lillian wrote a poem for me; which I shared. It was a hit! (Lillian is my 22 year old special needs daughter) She totally understood the assignment. 😁

The mermaids of the sea bow down
To the queen of the oceans
Bravely dancing

In the seas of love and the heart of kindness
Dances the braveness of the mermaid
Of my heart of friendliness

Swimming into the dancing sea of stars
The mermaid dances to the song
Of life bravely and free
To the mermaids of sea
Lillian Darnell – 2024

I wrote a poem titled, “Me”. I’ll share that one in a separate post.

Lillian is Ready – Gonna Figure This Out

November 16 2023

There’s no stopping her now! Abdominal ultrasound slayed. Labs from two weeks ago are fine. GI next week, with more labs, and another (different) ultrasound to follow. We are gonna figure out what’s going on so Lillian can fully enjoy this life! I’m just so thrilled Lillian is ready to do this! ❤️🎉❤️

She is On Fire – Go Lillian

November 7 2023

She did it!!! After about 6 years, she finally had labs done! You on fire, gurl!

I found a place that does mobile draws, explained that Lillian has a needle phobia, a pediatric size body, hard to find veins, and a traumatic lab draw 6 years ago. They said they had the perfect person. And they do! Patrick Go is absolutely amazing, and he did a wonderful job! So relieved to have this done. There’ll be more after the GI visit in December. But at least we’ve begun!! Stomach ultrasound next week. 🎉🎉🎉