Hudson is 2 years old and loves riding his scooter around the house, but just a year ago Hudson couldn’t sit up. That is because Hudson has Sepiapterin reductase deficiency (SRD) - a genetic disorder that affects neurotransmitters resulting in lack of muscle tone and delays in reaching developmental milestones.
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Often misdiagnosed as Cerebral Palsy, SRD is very rare with only 50 cases worldwide. Without the insistence of his mother, doctors may have missed Hudson’s SRD diagnosis. SRD is a progressive neurological disorder which means prompt diagnosis is important to prevent irreversible damage. Surprisingly, for an extremely rare disorder, there is a treatment for SRD.
The Path to diagnosis:
Hudson’s mother Shelbie has been a nurse at a pediatrician’s office for 7 years. So when Hudson’s development was delayed compared to his twin sister’s, Shelbie knew to reach out for help. Shelbie asked for a referral to Early Intervention about 5 months before Hudson received his diagnosis. One of Shelbie’s biggest concerns was that Hudson could not sit, and in fact seemed extremely uncomfortable being placed in a sitting position. She hoped that at home physical therapy might help make Hudson more comfortable.
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“The first goal we had for Hudson was to sit in a shopping cart at Sam’s Club,” said Debbie, MCBDD Early Intervention Specialist. “We would come to the home for visits and try to help Hudson with sitting and he would just scream, like he was in pain from being in the sitting position.”
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Shelbie asked for a hip x-ray and a referral to orthopedics, but tests showed no issues. Hudson also had brain and spine MRIs which also revealed no abnormalities.
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“I guess a mom really does know when something is wrong. I kept saying to the doctors something is wrong that is not allowing him to sit. Every single doctor was left puzzled by Hudson’s symptoms. They could tell us it was abnormal, but didn’t know why,” said Shelbie. Some doctors suggested autism or CP, but Shelbie was not convinced.
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Shelbie continued to push for additional testing and referrals, eventually asking for genetic testing.
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“We were told there was only a 40% chance that we would find anything. And then we got the call that he actually was positive for this rare genetic disorder,” said Shelbie. His parents were told that Hudson has Sepiapterin reductase deficiency (SRD) a rare genetic disorder, but there was good news.
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“You hear ‘genetic disorder’ and immediately think scary, like, oh my what’s going to happen,” said Shelbie. “And, it’s really rare, but it is weird because most genetic disorders don’t have treatments but this one does.”
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People with SRD have a deficiency of the enzyme sepiapterin reductase, which disrupts the normal synthesis of neurotransmitters like serotonin and dopamine. The treatment focuses on correcting the deficiency of neurotransmitters with a Parkinson’s medication combination of L-dopa/carbidopa and 5-HTP.
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Hudson will take this treatment three times a day for the rest of his life. The treatment will stop the neurologic damage and allow his development to continue typically. Hudson began treatment last February, at that time he was unable to sit unassisted.
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“About a month in we started to notice a difference,” said Shelbie. “He began physical therapy with a walker, and Early Intervention gave us a walker to use at home and he started walking in June.” By February the next year Hudson was enrolled in dance class, running around, and riding a scooter.
“In Early Intervention we set goals and slowly work towards them,” said Debbie, Early Intervention Specialist, “but with Hudson we saw such a massive change in a short time period. This diagnosis and treatment was so huge for his development.”
Looking towards the future, Hudson’s parents and Early Intervention staff agree that Hudson may not require an IEP for Preschool or Kindergarten, with the amount of progress he has made.
Finding help through a Facebook Forum:
“We go to Children’s for SRD but no one knows much about it,” said Shelbie of the rare disorder. So she looked for other resources and found answers in an unlikely place: a Facebook group for SRD.
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The Facebook group for the disorder had only 10 members, but one member was also the mother of a young child with SRD. She told Shelbie about a doctor in California who specializes in SRD.
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Shelbie convinced the pediatrician she works for to reach out to the specialist, Dr. Friedman, who responded to Shelbie within 12 hours and scheduled a chat.
Shelbie learned from Dr. Friedman that testing Hudson’s spinal fluid is required to ensure he is on the correct dose of medicine, something Hudson’s medical team wasn’t yet doing. They were instead basing the dosage off of his corrected development. Once his spinal fluid was tested, doctors realized his medicine needed to be increased.
“I’ve realized through all this that sometimes parents really do know what’s going on. I think sometimes you have to trust your mom instincts and keep pushing and advocating to get answers for your kid,” said Shelbie.
Now, to the future:
Since his diagnosis and treatment, Hudson has flown through his Early Intervention goals. His current goal is gaining confidence walking up and down stairs. Mom reported at his recent visit that Hudson is ready to check that goal off the list also.
The Early Intervention staff at the Muskingum Board of Developmental Disabilities can’t wait to see what Hudson accomplishes next!
Ohio Early Intervention:
Ohio Early Intervention is a statewide system that provides coordinated services to parents of infants and toddlers with disabilities or developmental delays.
The first three years of life are an important time for the health and development of all children. Starting intervention services early improves the child’s ability to develop and learn, and may prevent or reduce the need for additional services later.
If you have concerns about your child’s development contact the Early Intervention staff at the Muskingum County Board of Developmental Disabilities at 740-455-4177.
Dream, Believe, Achieve: London
Billy is a student at Muskingum University who recently participated in the school's Study Abroad Program. While Billy had always dreamed of visiting London to explore the city’s theater culture, he had been told that studying abroad would not be in the cards for someone with a disability.
However, that all changed when Billy attended the Muskingum Involvement Fair and stopped by the Study Abroad Program table. After chatting with the folks at the table, he learned that a disability would not exclude his participation and there were several options, including a trip to London. In fact, Billy found someone who was excited to make sure a person with disabilities had access to the Study Abroad Program: Professor Kekoa Kaluhiokalani.
Professor Kekoa and Billy immediately began planning. They worked to get financial aid in place and coordinated planning with the Muskingum Board of Developmental Disabilities.
“The Board helped to advocate for my needs and arrange my companion for the trip. Kat [Billy’s SSA] was there to bridge the gap from an accessibility standpoint,” said Billy. “She’s someone who has worked with me for years now, so she discussed what my needs are and helped start the process of finding my companion.”
Billy’s trip to London was the first time staff at the MCBDD helped to coordinate oversea travel, so it required extensive communication with the Ohio Department of Developmental Disabilities to ensure compliance. “DODD [Department of Developmental Disabilities] knew that we were on a strict schedule, so they worked diligently with us to ensure Billy would make the deadline to be able to go,” said SSA, Kat Burris.
The trip was also a first for Professor Kekoa. “London 2025 was the first time in my 16 years of coordinating overseas programs where we had a student participant using a motorized wheelchair, but once Billy was on board, I had two goals: [first] I’d do additional advanced planning to make sure I knew all the ins and outs of accessibility in London. [Second] If, due to accessibility limitations of a venue, Billy could not join in an activity, we would not engage in that activity. No compromises there,” said Professor Kekoa.
After many months of planning, the 10-day trip to London occurred in March of 2025. Billy’s favorite parts of the trip were exploring London at night, seeing Phantom of the Opera, and the V&A Museum.
“Billy kept high spirits and an optimistic attitude—and invariably Billy’s sunny attitude added to the energy of the group. It was a joy having Billy on the program. So, really, this trip felt no different than any other. Billy was an integrated member of the group, and it was a joy to see that gleaming smile at every new activity,” added Kekoa.
“Largely when it came to public transit everything we did was accessible. And London transit staff members were more than helpful,” said Billy.
When asked if he would recommend studying abroad to other students with disabilities, Billy said,“Just do it. If you have the right team behind you, I know it seems scary getting all the passport information and all the planning, but do it. I changed my major because of this trip because I'm now interested in working as a historian. This trip was life changing in every sense of the word.”
Ensuring accessibility on the trip was a joint effort between Billy, the Muskingum Board of DD, DODD, and Muskingum University. Professor Kekoa emphasized the work of the support team from Student Accessibility Services. “They went many extra miles, they were diligent in checking in about every aspect of London 2025, and they did spectacular work marshalling all the resources necessary to make this happen,” said Kekoa. “Truly, the success of this trip is due to the cooperation, dedication, and care that is emblematic of the spirit of Muskingum University.”
“Staff at Muskingum were so helpful and Professor Kekoa could not have been more inclusive! He changed the itinerary more times than I can count to accommodate Billy to ensure that he would be able to attend everything with his classmates, and worked hard to get all of the accommodations for the flight, hotel, transportation, etc,” said Kat. “
Billy plans to spend more time travelling internationally, and is already saving for his next trip.
Teamwork for Transportation
November 14th was a big day at the MCBDD. Cameron got his van.
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It was a day that MCBDD Service and Support staff, and the folks at Team Joseph, the Jett Foundation, and Stay at Home Vehicle Modifications had been working towards for a long time.
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The van will help Cameron to live a fuller life, be part of the community, and just be able to go. Cameron and his grandfather Wes have big plans for the van. “We’re going to go. It’s going to get us out of this house. We’re thinking Yellowstone,” said Cameron’s grandfather Wes.
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The van, which was paid for with a combination of funds from the Muskingum County Board of Developmental Disabilities and grants from Team Joseph and the Jett Foundation, is equipped with a wheelchair lift and has room to transport Cameron’s other medical equipment.
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Cameron’s grandfather Wes shares that the van will be a big improvement from the old van they currently drive, which is high on miles and has no air conditioning. “We have a silent prayer each time we pull into the Children's parking lot that we made it,” said Wes.
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The team at the Muskingum County Board of Developmental Disabilities, Ohio Department of Developmental Disabilities, Team Joseph, and the Jett Foundation, have all worked tirelessly to bring the resources together to purchase the van and ensure funding for the modifications. Stay at Home Vehicle Modifications completed the modifications necessary to make the van most useful for Cameron.
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Early Intervention: Support Early for Success Later
River is 3 years old and loves to climb and slide on the playset at the Colony Square Mall. This is where River and his mom, Cassie, sometimes like to meet their Developmental Specialist, Rebecca, who is part of the Early Intervention staff at the Muskingum County Board of Developmental Disabilities.
River and his family began with Early Intervention when he was 2 years old. Goals for River have evolved since that time, but have included adding additional sounds and words, and engaging in social interactions.
Rebecca shares different strategies and games during visits that River and his mom can use at home to work towards his goals. For example, naming objects while playing and waiting for River to name them back.
River is transitioning out of Early Intervention Services as he begins preschool. “Results like this are wonderful and a big part of what our program is about,” said Keely Kirkbride, Early Childhood SUpervisor. “When we can provide assistance and support to families early, this often means children will not need additional support later.”
Ohio Early Intervention is a statewide system that provides coordinated services to parents of infants and toddlers with disabilities or developmental delays.
The first three years of life are an important time for the health and development of all children. Starting intervention services early improves the child’s ability to develop and learn, and may prevent or reduce the need for additional services later.
If you have concerns about your child's development contact the Early Intervention staff at the Muskingum County Board of Developmental Disabilities at 740-455-4177.
March for Inclusion
MCBDD staff, Starlight students, and many individuals and organizations joined together for the 2nd Annual March for Inclusion on March 13th in downtown Zanesville. The Board appreciates the support from the Commissioners, Sheriff, and Prosecutor’s Office, who also marched along 4th Street with the group to the Courthouse.
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Commissioner Melissa Bell presented the Board with a Proclamation for DD Awareness Month. People First of Muskingum County President, Alyson, gave an inspiring speech.
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Many participants carried signs expressing their thoughts like: "Nothing About Us Without Us", "I'm Different, Not Less", "Once You Know Better, Do Better", and "Everyone Wants to be Include