Meet Our Families
Here are just some of the families of U.R. Our Hope that you are helping with each and every donation you make to our organization. We have helped these families find doctors, get the right testing, entered them in to research studies, and provided emotional support along the journey. Thank you for supporting our mission.
“This journey has been one of the most difficult things our family has endured. Every time an obstacle comes up we never know what the outcome will be because the doctors can’t tell us what’s wrong. He’s not the “typical case” so it has taken us years to find doctors who are willing to work with us to find solutions. We are so thankful to have U.R. Our Hope as a support system and to find other families on this same journey.
Tyler loves anything involving vehicles but specifically trains and airplanes. When you ask him what he wants to do when he grows up, you will get this response: well I’m going to have many careers such as: military pilot, police man, UPS driver, train conductor, dump truck driver, and then when I’m 35 I’ll be the president.”
Meet Lily & Kyle
“U.R. Our Hope and Dr. Mary Elizabeth Parker have been instrumental in helping find the right doctors for Lily and supporting our family through this journey. We focus on the present and hope that one day soon we will have an answer. We love that U.R. Our Hope has given us a place to go and have connected us to people who understand. It is wonderful to not feel so alone.
Lily has been undiagnosed for five years. She recently received a partial diagnosis and with that diagnosis came the surprise that her twin brother also has the same mutation on the ADNP gene. They are two of 33 children in the United States and 80 worldwide that are identified with Helsmoortel-Van Der Aa Sydnrome. We recently met with a new doctor regarding Lily and are hopeful we will have some more answers soon.
Lily loves dance and animals, especially horses. The one bright side to growing up around many medical professionals is that she says she wants to be a doctor and help babies when she grows up.
Kyle loves to sing and can match the pitch of any sound he hears. He loves minecraft and math. He says he wants to be a singer, actor, builder, football player, and vet when he grows up. He has a lot of big plans.
She has a rare, de novo STXBP1 gene mutation and her specific variant has not been reported before.
Emma was diagnosed in December 2013 through whole exome sequencing as part of a research study with TGen laboratories. The STXBP1 gene is required for synaptic transmission. In layman’s terms, Emma’s brain has a difficult time communicating with her body, leaving her non-ambulatory and non-verbal as well as epileptic. The gene was only discovered in 2009 so very little is actually understood about it and there is currently no treatment or cure.
We were introduced to U.R. Our Hope through Mary Elizabeth Parker before a diagnosis was found. We have made friends who can relate to our challenges and have continued to support us after the diagnosis. During the moments I wanted to give up searching for answers, MEP and U.R. Our Hope gave me the energy and encouragement I needed to continue. More recently, they have given me the opportunity to give back through sharing our story and offering hope to other parents as well as educating future health care professionals.
Emma is a true light wherever she goes. She brings joy to everyone she meets. She loves music, to be read to, watching her bubble machine produce waves of bubbles, swimming, and being outside. She adores her brothers, mommy and daddy, and her cats. Nothing excites her more than watching a spider crawl up the wall and having mommy sing ‘The Itsy Bitsy Spider’.”
“Maxi s 5.5 years old and has been undiagnosed since 9 months of age. We are from Australia and have had a long journey on the medical merry-go-round trying to find what’s wrong with our Maxi. His illness became gravely serious in 2013, he had regressed to non-verbal and limited mobility.
He has layers of issues including hypothalamic obesity, developmental delay and sensory processing disorder.
Our path led us to the States, where Maxi was (with the help of U R Our Hope) accepted into the Undiagnosed Disease Program at the NIH. We spent almost 3 weeks there. A totally foreign place and country for us, without the wonderful support of our U R Our Hope team, we would never have managed through that experience. The outcome of our trip was bitter sweet, the NIH were unable to diagnose him, however found a supplement he was lacking in Levo Carnitin and after only one dose, Maxi sparked up, walked, and talked and became active again. This treatment has continued and although has improved things almost miraculously, there are still many issues that go side by side with his morbid obesity and that is still very difficult to control. We continue to search for answers and treatments for Maxi in a desperate attempt to prolong his life, as this disease is unpredictable and impossible to diagnose.
Maxi has an older brother Jacob 8 who suffers from a hip disorder called Multiple Epiphyseal Dysplasia, both children are happy and play well together. Maxi loves to play with his brother, some of his favourite pasttimes are to watch Hobbie Kids TV on Youtube, playing with Lego and will soon meet his service dog a black labrador named; Tyson who will join the family later this year. He misses America and we hope to return again soon to see all our friends again at U R Our Hope.”
“We waited 12.5 years for a diagnosis. After doing literally every test under the sun (& everything coming back normal/negative), we underwent Whole Exome Sequencing in Sept. of 2012. Owen was diagnosed with PURA Syndrome in July 2014. At the time, he was 1 of 11 people in the entire world with this diagnosis.
Now there are about 50 known cases in the world. It is a de novo mutation of the 5th chromosome involving the pur-alpha protein. I want people to know that they should be persistent in seeking out help and to never give up. The answers are out there and the medical community is discovering things every single day. Fun fact about Owen – he LOVES music and books (we’re currently reading Harry Potter), plays baseball in the Miracle League (has since he was 4) and he has a great sense of humor! Here’s our website: www.purasyndrome.org ”
“We have been blessed to find URourhope family, and to know we are not alone.
He has a rare diagnosis of Costello Syndrome which occurs in about 1 in 381,000 people.
“Westin was undiagnosed until he was 5 months old. It was a LONG 5 months. We were actually the ones who asked his geneticist to test him for Costello syndrome after researching his results from a muscle biopsy and reading everything we could find on the internet. Never be afraid to question doctors and do research on your own!
Westin has undergone 7 surgeries (brain, spinal cord, Achilles tendon, feeding tube placement/closure, tonsils/adenoids, and supraglottoplasty) and faces many other medical complications and developmental delay. My coworker told me about a local group who helped those who were undiagnosed. We contacted Mary Elizabeth Parker and she invited us to a U.R. Our Hope meeting. We told her we couldn’t attend because Westin was extremely irritable and never stopped screaming. She assured us it would be OK so Westin had his first visit to a restaurant at 3 months old.
He is the only child in Austin with Costello syndrome. Westin LOVES the school bus, doors opening and closing, Elmo, and his little sister Haydon. He asked Santa Claus to bring him macaroni and cheese for Christmas. We tried to convince him to ask for a tricycle but he insists on macaroni and cheese. It is pretty amazing how much he loves to eat food now after only eating through a tube for a couple of years! We are so blessed!”
He has a rare diagnosis of Rubinstein-Taybi Syndrome which occurs in 1 in 100,000 – 300,000 people.
“Braxton was diagnosed via Whole Exome Sequencing in 2013. RTS affects nearly every system and he will have lifelong developmental delays. Our greatest challenge is communication. Braxton is not yet verbal, but making great progress with Augmentative Communication.
U.R. Our Hope was exactly what we didn’t know we needed. We finally have a ‘home’ and people who understand the journey. They have been a great resource and provided important emotional support along the way.
Braxton loves to listen to music, swing outside, and jump on the trampoline. He likes making trouble with his big sister, too!”
For more than a decade, my life has been on hold. This undiagnosed disease has stolen my life from me. I am alive, but not living. I have walked a path of destitution, near homelessness, and total hopelessness. It is an all-consuming despair that never fades. I have broken down, I have screamed at the top of my lungs, and I have contemplated suicide. For all of this to be agonizing would be a vast improvement.
I wanted so much for myself. I had ambition, goals, and an insatiable thirst for achievement. I wanted an education, a career, and independence. I had an ironclad will to succeed, and my undiagnosed disease ripped it all away. But still I fight.
Not knowing what’s wrong is bad enough. But it’s keeping me from working, too. So I can’t get health insurance through an employer. I’m too old to be on my parent’s insurance, and without a diagnosis, I can’t get disability or Medicaid. Without health insurance, I can’t even try to get a diagnosis, and without disability, I have no income. Hospitals and clinics can’t diagnose me, lawyers won’t touch my case, and there were no charity organizations for people like me. Even the Affordable Care Act failed me. The laws use tax credits to provide discounted rates. And since I can’t work, I can’t pay taxes. Additionally, each state decides whether or not it will participate in Medicaid expansion. My state chose not to participate.
On October 2, 2014, I met Mary Elizabeth Parker for the first time. The producer of Undiagnosed: Medical Refugees introduced us. I emailed her right away, more than ready to pursue a new lead. That day marked the beginning of an incredible partnership.
Since then, Mary has worked tirelessly on my behalf. She has been a pillar of strength and an invaluable resource. She has kept my sanity intact and my feet moving forward. Without her, I would be nothing. Without the incredible efforts of Mary and U. R. Our Hope, I would not have accomplished everything I have during my undiagnosed journey.
Then, about 6 months ago, I discovered that the blood test that could diagnose me costs $1,500 out of pocket. Thanks to U. R. Our Hope and Mary’s help, I was able to raise the funds. When my doctor refused to sign the paperwork, Mary stepped up once again, and helped me find a new doctor with reduced fees. The paperwork is now almost complete, and soon, I hope to be on my way to a diagnosis and a new life.
But none of this would be possible without donations and sponsorship. Just like all the undiagnosed patients in the world, U. R. Our Hope needs help, too. When we help U. R. Our Hope, U. R. Our Hope can help people like me.
We need you. Please support U. R. Our Hope and the undiagnosed community today.”
In Loving Memory