Bloom for Rare: Gifting List
Meet the people we are celebrating this month and sign up to make their Bloom for Rare basket!
We will continue to update this page throughout Bloom for Rare!
Before you scroll down and meet everyone, we want to take a moment to say thank you.
To everyone who has signed up to be part of our gifting list - thank you for your voice, your strength, and your trust. We know it’s not easy to share moments of vulnerability, and we’re honored to hold space for your stories. Your courage inspires us, and we’re so grateful to be walking alongside you in this community.
And to anyone who is reading this - thank you for taking the time to learn about these incredible individuals. Whether you're here to support, to connect, or to help us make a basket, your kindness means more than you know.
Each bio below is only a fraction of each person and their family's experiences with rare disease(s), stay tuned to hear their full stories on SARD Stories very soon!
Teddy
Scotland, UK
Teddy is 2 years old, he was diagnosed with TUBA1A shortly after his first birthday. We noticed he had a shaking head & erratic eye movements - 2 things that led us to meeting with a pediatrician who agreed something wasn’t right! In 2020 less than 200 people had been reported in medical literature as having TUBA1A - but we have since been in contact with many other families through online groups. The spectrum of this disorder is massive, and no 2 people are affected the same way! He is the happiest, most content boy. We don't know if he will crawl/walk or talk but he is the most determined boy.
Interests:
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Music
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Getting outside
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Meeting new people
@_teddyslife__
Noah
New York, USA
Noah is currently 3.5 years old. At 10 months old, Noah experienced a cardiac arrest in his sleep. Due to quick CPR by his parents and a fast response from emergency personnel, he survived and recovered quickly. Then at 18 months old after a bout of pneumonia he went into respiratory distress and experienced another three cardiac arrests. Again, he survived but he had a lot of internal damage and it took a long time to recover. After that we pushed for genetic testing and right after his second birthday we received the diagnosis - PPA2 deficiency. PPA2 deficiency affects energy production in the cells and can lead to sudden cardiac death when triggered by things like viral illnesses or consumption of alcohol. Noah follows a strict diet and we try our best to protect him from viruses, however we have an emergency treatment protocol were he to fall ill. Each day we wake up not knowing what our future holds, so we fight to raise awareness of rare diseases with the hope there will someday be a treatment or cure.
Interests:
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Dinosaurs
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Superheroes
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Stickers,
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The color purple
@get_to_noah_me
Ella
North Carolina, USA
Ella is 8 years old. In June of 2019 at the age of 2 Ella's doctor's at CHOP confirmed that she has Vanishing White Matter Disease, a type of Leukodystrophy. Worldwide there have only been around 300 cases of VWMD and in the United States Ella is just the 10th case with her very specific gene abnormality. This disease mainly affects children and symptoms are highly variable for each case.
Ella's motor skills, speech, hearing, vision, and swallowing are affected. The disease is progressive meaning Ella's symptoms will get worse over time. Progression of the disease comes quicker if Ella experiences head trauma, infections, or sickness. The typical life expectancy is 5 -10 years after diagnosis. There is no cure for Vanishing White Matter Disease. However, Ella has been accepted as the first child to take part in a ground breaking Fosigotifator drug trial that starts the first week of April 2025 (we leave in the morning) in Boston! We are hoping that this is the miracle we have been waiting for! The drug will hopefully be someday approved by the FDA as a viable treatment plan for the disease.
Interests:
Ella has a big heart! She especially loves animals, particularly her dog Ruby and cat Birdie. She adores her best friend and big brother Ethan, along with all of his friends. Ella enjoys watching Ethan play baseball and also plays herself with the Miracle League of Charlotte. She loves going to school, as well as spending time at the beach and swimming in the water. Pink is her favorite color, though purple and blue come in a close second. Ella is also a huge fan of all things Disney, especially the princesses.
@amiracleforellarose
Matthew
Illinois, USA
Matthew is 5 years old. He is a happy boy who has a very long list of challenges. Despite that he lives his life to the fullest. He was diagnosed shortly after birth and since then had to go through multiple procedures and thousands of hours of therapy. He is making progress constantly, and we are very proud of him. We're hoping to see him improve his communication, since that's very limited for him. Matthew thought us to live one day at a time and enjoy the moment now.
Interests:
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Music
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Animals
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Colors
@matthew8pjourney
Ezra
Utah, USA
Ezra is an amazing boy who has faced every hurdle in his life head on. He was diagnosed with Sotos Syndrome at 5 weeks old, the same time he had a g-tube placed. Sotos Syndrome is an overgrowth syndrome and causes rapid growth during childhood with several other medical and cognitive struggles. He was slow to meet milestones as was expected with hypotonia. He is so resilient and always works hard. Ezra also has epilepsy, GI difficulties, spine/bone abnormalities and dysphagia. One month after Ezra’s first birthday he was diagnosed with a low risk neuroblastoma tumor. Thankfully we were able to have it removed and has not required further treatment. This was a condition we were told he was at a slight increased risk for due to his syndrome. We monitor him closely for relapse now. Ezra spreads joy everywhere he goes and surpasses all expectations. We are proud of him and everything he strives to be every single day.
Interests:
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Monster trucks
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Trains
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Baseball
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Bowling
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Parks/Playgrounds
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Zoo animals
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The colors blue, red, and pink
@_hannah.bean
Jack
Virginia, USA
My name is Jack and I am 4 years old. I was diagnosed with an ultra rare neurodivergent disorder called Warsaw Breakage Syndrome at 9 months old. I have cochlear implants, a feeding tube, epilepsy, and was born with a congenital heart defect that his since been repaired. I don’t let these things hold me back and am crushing my milestones in my own time. I have a twin sister named Charlotte (she’s a carrier for WABS) who is my best friend and biggest cheerleader.
Interests:
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Sharks
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Fish
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All ocean animals
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Puzzles
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Bubbles
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Play doh
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The color blue
@mrs.phillijt
Caiden
California, USA
I gave birth to my beautiful son Caiden 4 years ago and my world changed. My son was born 3 weeks early and in the NICU when he was diagnosed with a rare chromosomal disorder called chromosome 8p. I was informed that there were only 300 people in the world with the diagnosis. He has been in all therapies since he was 5 months old and he has made such great improvements. He is nonverbal and isn’t walking just yet. My son is such a warrior and continues to fight through some tough battles that lie ahead, but he is the light of my life.
Interests:
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Music
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Watching movies
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Warm weather
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Going for walks
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Laughing together
@dimedizzle
Stella
Texas, USA
Stella is currently 2 years old. At 5 months old, we were told that Stella’s seizures and ACC diagnosis were due to an extremely rare genetic disorder of the Tuba1a gene. This mutation is new in Stella, and less than 200 people in the world report having this disorder. Due to the rarity of this brain malformation, there is not much information to guide us along the way. It also comes with a wide spectrum of disabilities, complications and no known life expectancy.
Stella is such a sweet baby who gives lots of kisses and wakes up happy every day. She loves music, being social and giggles all the time. While she has a lot of challenges ahead, she is incredibly determined and already showing great improvement. Our most memorable milestone was when she learned to get into a sitting position on her own, giving us an amazing amount of hope. On the day she turned 17 months, she started crawling, which has been the most fun milestone to date.
We don’t know what her future holds and if she will ever be able to walk, talk, or will hit more traditional milestones. But we are doing all we can to provide her with the best opportunities and love watching our strong baby girl write her own story, while giving it her all. We are so very proud of her and can’t wait to see what our Super Stella will do.
Interests:
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Music
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Animals
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Colors
@summertimeluvins (Stella's mom)
@trav_ham424 (Stella's dad)
Trey
New Jersey, USA
Trey Arlo, who is from northern New Jersey, is 2 and a half years old. He is a social butterfly, has a smile that lights up any room, and brings so much joy to everyone around him.
Despite his disabilities, Trey works so incredibly hard in therapy and at school and is getting stronger every day. Trey’s best friend is his 9-year-old sister, Stella, who helps him so much and reads to him everyday.
When Trey was just 3.5 months old, we noticed some early developmental differences, leading us through a series of specialist visits, tests, and eventually diagnoses—including Duane Syndrome at 6 months, developmental delay at 11 months, Cerebral Palsy at 15 months, and a confirmed CACNA1A mutation at 16 months. It’s been a wild, unexpected journey, but each step has brought us closer to understanding and supporting him.
Trey is making progress but is globally delayed and still not meeting age-appropriate milestones. Trey is currently non-verbal, but we are working hard to help him in these areas. He can scoot around now and has some word approximations and hand signs.
Trey's friends think his medical equipment is so cool and the best part of it all is watching him connect with others in his own special way.
NJ Early Intervention has been our lifeline since Trey was 6 months old. He currently gets physical therapy, occupational therapy, and speech therapy twice a week, developmental intervention, and vision therapy. The combination of all of these has been so incredible for his overall development and his therapists have become like family. He loves them all so much!
Interests:
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Giving hugs
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Playing with friends
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Elmo and Blue's Clues
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Music
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Reading books
@one.rare.mama (Trey's mom)
@cacna1a_dad (Trey's dad)
Ryan
Arizona, USA
Ryan is a sweet 3-year-old boy diagnosed with SPG47, a rare neurogenetic disorder that affects movement, muscle tone, and speech. SPG47 is caused by mutations in the AP4B1 gene and is part of a group of conditions known as hereditary spastic paraplegias. Though Ryan is nonverbal and faces physical challenges, he expresses himself in so many meaningful ways. His smile, his curiosity, and his love for exploring different textures remind us daily of his strength and spirit. SPG47 is extremely rare, with only a small number of known cases worldwide. By sharing Ryan’s journey, we hope to raise awareness, connect with other families, and push for more research and treatment options for children like him.
Interests:
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Music
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Ms. Rachel
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Going outside
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Snacks
Malani
New Jersey, USA
Malani is a 3 year old girl from NJ. She was diagnosed with a rare genetic disorder called BPAN (Beta Propeller Protein associated neurdegeneration). It is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron on their brain which makes it also a NBIA disorder. She also has epilepsy and she is developmentally delayed. There is currently no Cure. Malani has the most wonderful soul, Everywhere she goes she puts smiles on everyone’s faces. She is strong resilient and so full of life! We love her endlessly! ❤️
Interests:
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Music
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Dogs
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Purple
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The beach
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Warm weather
@malanis.mission
Yiannis
New York, USA
Yiannis is sheer magic and joy personified. He is 4 years old and lights up every room. He was born full term but was in the NICU for 2 weeks. Doctors knew something was very wrong but couldn't figure out WHAT. (Had they done a whole genetic screening in the NICU we would have had answers sooner) we had done all the genetic testing in utero and even pre conception. We always say we are grateful for answers horrified at the findings. We started a foundation to help the 50 give or take other kiddos with this horrific disorder including our Yiannis. Yellow for Yiannis IRF2BPL Foundation is raising funds to develop a viable treatment once and for all. And be a huge resource not only for IRF2BPL-NEDAMSS but rare as a whole.
Here is a short 8 min documentary about our family and what we are working on/what we are up against. Most kids don’t make it past 10 years of age!!
https://youtu.be/At2dfsB_0jw read/share
print story here: https://patientworthy.com/2024/04/03/yellow-for-yiannis-advancing-irf2bpl-research-understanding/
@venturing_rare
@superyiannisirf2bpl
Grant
Ohio, USA
Grant is 3 years old, he was born April 13, 2021 to Kyle & Lexi Kauffman who also have 3 beautiful girls (Sicily, Paisley & Lorelei) and little did they know their world would change as a family. Grant’s dad is a Police officer in West Jefferson & his mom worked at a daycare until these visits occurred. After numerous ER stays and visits at only 9 months old & a stay at Children’s Hospital & every doc coming in to evaluate him we had our answers, it was Grant had a rare chromosome disorder that no one really knew about. As Grant grew older we found out he had Developmental Delay, Cortical Vision Impairment, Cerebral Palsy Hypotonia, Eosinophilic Esophagus & would also need a g/gj tube to eat. He also attends many therapies (Occupational Therapy , Physical Therapy, Speech, Sensory, Cerebral Palsy Therapy & feeding). He doesn’t walk or talk so he has a medical stroller & uses an Eye Gaze Device to talk. He also attends preschool. But one thing for sure is with everything going he is the happiest boy you will ever meet.
Interests:
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Bumpy blankets, light up toys, watercolor painting, sensory toys
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The colors black and red
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Being outside in the spring, fall, and summer
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Visiting different states
Emmy
New York, USA
My name is Emmy and I love to laugh, snuggle, listen to music, watch crazy lights, and attend sporting events. I am 6 years old and I have CASK Gene Disorder. I'm one of only about 300 people in the world with CASK and it impacts almost every major system in my body. I have seizures, muscle tone issues, eat via g-tube, am non-ambulatory, and am non-speaking...but VERY verbal! I am on the Syracuse Women's Ice Hockey team through Team Impact and this brings so much joy to my life. I love when my teammates take me for skates on the ice in my wheels! I have a mom, dad, and younger sister who help me go out and see new places and do new things as often as possible. I may be medically complex due to my diagnosis, but that doesn't stop my family and I from making the most of this life each day!
Emmy is turning 7 on April 7th!
Interests:
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Lights
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Funny repetitive sounds
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Music
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Sports
@emeliasstory
Jose
Virginia, USA
Hi, my name is Jose; most people call me Cito. I am 8 years old. I was diagnosed with a rare chromosome deletion at 9 months old (#18 world wide), and autism at 2 years old. I also have spinal bifida. Drs said I would never walk, BUT GOD had other plans for me. In 2024 I began to walk independently! My parents and therapist would describe me as a sweet, strong willed boy! I love music, and counting! I enjoy swimming, splashing, and reading books! My favorite tv show is Super Why from PBS kids! I’m a PBS KID kid 💙I love all the shows and songs! I enjoy going for walks or bike rides on my adaptive bike. I also enjoy being outside and watching other kids.
Interests:
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Water play
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Swings
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Music
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Counting