We’ve all heard it, “when you fall down, dust yourself off and try again”. It’s the definition of perseverance.
Four year old Olivia demonstrates that perseverance daily, at times falling up to 40 times per day. Olivia became ill when she was just eighteen months old, but was just diagnosed last fall with Episodic Ataxia Type 1. Because her seizures and symptoms would come and go, diagnosis was difficult…and during that time her parents watched and worried as her physical abilities declined.
Thanks to new medications she now has “good days” with very few falls. It was on one of those “good days” last October, her parents watched Olivia run for the first time. She is a very caring little girl, loves reading and artwork. She also loves getting mail, so recently she began mailing out pictures to people she cares about. She calls this, “sending hugs”.
Hand tremors, trunk weakness and falling down are still part of Olivia’s daily life – but her family is committed to not letting Olivia’s illness define her life! And what a life!
Olivia participates in gymnastics, dance, and loves to swim because you can’t fall while swimming. With all this, one thing was missing. Olivia wanted to ride bikes with her family and friends on the bike path near her home. There were two challenges with this. First, what kind of adaptive bike would work for Olivia and second, how could the family afford to pay for this specialized piece of equipment?
That’s where Variety KC comes in. With numerous resources, Variety will work with the family and healthcare professionals to identify the safest bike for Olivia. Then, following their mission of providing mobility for children right here in the Kansas City area, Variety will fund Olivia’s new “ride”.
Variety is able to make Olivia’s dream come true through the generosity of our donors and volunteers. If you would like to learn more about Variety and help a child to be active, be communicative or to be involved – please email firstname.lastname@example.org.
Aiyana has a wheelchair but sometimes her wheelchair is just too much to carry around especially when I am just by myself. So I had been carrying her in my arms during therapies and doctor’s appointments because we did not have proper stroller for her. The new jogger provided so much comfort to her and me. I don’t have to carry her in my arms all the time when I go to appointments.
Aiyana loves being outdoors when the weather is nice. She had outgrown her old baby stroller and we did not have a good way to take her outdoors for a jog or walk when the weather is nice. There were few opportunities when we could not take her with us because we did not have a stroller big enough for her needs. However, that changed after we got the new jogger. This winter has been unusually mild and we saw couple of weekends when the weather had been really beautiful for a walk. Aiyana and I went for a jog yesterday and she had a big smile on her face all the way while I was jogging. These smiles are rare and I loved that the new jogger gave us this opportunity to bring smiles to her face.
At home, she has been spending at least 30-45 minutes a day on her stander since she recovered from the buckle fracture. It is much needed therapy for her hips and legs to gain strength, prevent any injuries and avoid any surgeries in future.
Our family cannot thank you and other wonderful people at Variety KC enough to provide us with new opportunities to bring smiles on Aiyana’s face and help us provide a better quality of life to her and us with the equipment donated by the organization.
Thanks from all of us!!
Leslie Carto is a mom.
Before that, she was pretty darn smart. She even won an Emmy for her work as a television news reporter. Leslie served on the board of directors for the Kansas City chapter of Variety Children’s Charity for nearly two years.
Along with her (patient) husband, Rusty, Leslie is in charge of raising four-and-a-half year old, Will, and two-and-a-half year old Francie.
Besides writing, Leslie spends her time pondering important issues: like what 1980’s pop hit would be blaring from convention hall speakers if she accepted her party’s nomination to run for President of the United States…or what her wish might be if a genie ever popped out of a bottle.
Leslie hopes that each post she writes will someday serve as love letters to her children.
The following blog post was written by Dana Hunt about her youngest son, Carson Brady Hunt, who was born with a very rare kind of HCU that was not detected through newborn screening. When Dana shared her family’s story, she told me that at 3 months old, Carson was admitted to the hospital for a 3rd time with “failure to thrive.” The doctors told her and her husband to “take him home and love him as he only has about 6 months.” The disorder ate at his retinas, and he is legally blind. They also told the Hunt’s that Carson would never speak.
Carson is now 6 years old. Part of his treatment includes 15 syringes a day, 15 grams of Betaine, and weekly Hydroxycobalomin shots in his leg. He is the epitome of perserverance. Carson continues to inspire those around him with his strength and courage. I couldn’t think of a more fitting person to share my Boston Marathon journey with. I’m thrilled to share Carson’s story & to dedicate one mile to this amazing boy!
Carson was born on July 12, 2007, and almost immediately he began telling us that something was wrong. He was born with club feet, having difficulty feeding, significant congestion, and noisy breathing. We took him to the hospital, where he was admitted, treated, and released with having severe acid reflux and bronchiolitis. Over the next few weeks his condition worsened. Plus he was showing signs of failure to thrive, as he began losing weight and missing developmental milestones such as tracking and smiling. At that point we knew something else was wrong. We took him back to the hospital on September 10, 2007. That’s when the real tests began.
Carson spent several weeks in the hospital being put through just about every test you can imagine.
A genetics consult revealed that Carson had microcephaly, decreased white matter per MRI, feeding problems, and respiratory distress. In addition, laboratory studies revealed that Carson has an extremely rare genetic disorder called Homocystinuria. There are many variations of Homocystinuria, and initial findings suggested that Carson’s version was an MTHFR deficiency. This can be (although not always) associated with mental retardation, microcephaly, gait disturbances, seizures, vascular occlusions, and limb weakness. We began treatment immediately, which included a long list of daily and weekly medications, along with numerous physical, occupational, and eventually vision and speech therapies.
June through December 2008
Nearly 9 months passed and we continued to treat Carson’s genetic condition with the regimen mentioned above. However, we soon started to notice Carson’s eyes shifting and flickering whenever he tried to focus on something. This is called Nystagmus. Most kids have some nystagmus when they are babies, but they eventually grow out of it. Carson was not growing out of it. Over the next few months we visited several ophthalmologists in Kansas, Missouri, Nebraska, and Boston. They all concluded that Carson has Maculopathy (retinal degeneration). Basically, Carson has scar tissue in the middle of his retinas that, to him, appear like black dots in the middle of his vision that he can’t see around. Carson is considered legally blind, although he currently has enough peripheral vision to be mobile. But this is a progressive condition, which means these black dots could continue to get bigger and his vision could get worse. Therefore, he continues to have annual ophthalmology visits at the University of Iowa Vision Clinic to measure how much the degeneration has progressed.
We continued to treat Carson for Homocystinuria due to MTHFR. But in early 2009 his doctors began seeing some inconsistencies with other MTHFR cases. This led to doubts about the original diagnosis. We discussed our options and agreed to have some more tests conducted. However, we’d already done everything we could in the United States, so these new tests had to be done internationally.
We initially sent Carson’s bloodwork to Germany and Switzerland for tests, both of which came back inconclusive. Then we sent a skin sample to McGill University Health Centre in Canada. We received the results from that test in June 2009. These results suggested that Carson actually has a different version of Homocystinuria. He has a cblG deficiency, not MTHFR.
CblG, also known as methionine synthase deficiency, is even more rare than MTHFR. In fact, according to his doctors, there were only 27 other identified cases of this deficiency in the world (Carson is #28). The most common symptoms of cblG include poor feeding, vomiting, failure to thrive, cerebral atrophy, development delay, nystagmus, hypotonia, hypertonia, ataxia, seizures, and blindness. Carson has (or has had) almost all of these symptoms at one point in time.
The good news was that cblG is treated very similarly to MTHFR, so we only had to make a few dosage changes to some of his existing medications.
2010 – Today
We’ve continued to treat Carson with a daily, weekly, and monthly regimen of medications and therapies, and he has made progress. He still has developmental delays, vision impairments, speech issues, and several other concerns, but he’s doing much better than we had ever imagined. When Carson was first diagnosed the doctors said there were so few cases that they could not predict what his future could be. They said he might grow up with limited function, needing endless care and never leave our home. Or even worse, we might lose him before he even has a chance to grow up. Nobody knew, so we’ve continued to rely on Carson to tell us how Carson is doing…all along giving give him the unconditional love, support, and every resource he needs to thrive.
We are very optimistic because he continues to make progress, and we cherish every milestone he accomplishes. Carson lights up the room and is so brave and loving.
He loves to play soccer, swim, hang with his brother and play with his friends. He is fearless and loves amusement parks, water slides and all things “boy”. He amazes us every day!
Some might say he’s breaking all the rules, because he does so many things that they said he couldn’t do. But what would you expect…he’s 6.
If you’d like to make a donation to Nord’s HCU restricted research fund in honor of Carson, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
Find the original blog click here: Caron’s Story