Parenting Children With Rare Diseases

No parent wants to hear that their child isn’t developing normally. It is even more daunting when the diagnosis is for a disease that you’ve never even heard of. A correct rare disease diagnosis can take five years or more, making the journey a long one. Finding the right doctors, therapists, treatments and support networks can be extremely challenging. For three Atlanta-area families, a rare disease diagnosis has led to a path of acceptance, advocacy and love.

Colbie, 5 years old

KIF1A Associated Neurological Disorder

Colbie lives in Watkinsville with her blended family that includes her parents and four teenage siblings. She has KIF1A or KAND. There are 27 other children who have the same variant as Colbie. When she was 10 months old, she was missing some milestones and her parents wondered if she had a vision problem and sought medical treatment. “Her eyes would roll up when she was tired. She wasn’t crawling,” says mom Lisa Schueneman. “People were saying she’d catch up, but I just knew something wasn’t right.”

The eye doctor referred the family to a neurologist, then a hypotonia specialist. Genetic testing was ordered and that led to Colbie’s diagnosis at 18 months old. “While we were hopeful that her delays were related to more simple vision problems, having the diagnosis helps us to manage symptoms as they come up and we know what to look out for,” says Schueneman.

Genetic testing has been integral to the understanding of KIF1A, which has only been recognized since about 2017. “There is so much unknown, even still. We’ve learned about the symptoms, but we don’t know long-term how they will affect Colbie,” says Schueneman. “It’s taught me to take things one day at a time.”

Since there are so many mutations, kids with KIF1A present differently and many with the condition may have been diagnosed with another rare disease. “KIF1A kids are so resilient. They are amazing,” says Schueneman. “Colbie is my rockstar. She has an amazing spirit and energy and determination.”

Colbie can get around on her own either in her wheelchair or by crawling. She likes to be independent, and her family lets her do what she can as long as it is safe. Colbie can communicate with her family and others to a certain extent. “We are glad for that,” says Schueneman. “Water and music are her two favorite things. Right now, True Colors and Silent Night are her favorite songs. She plays on the piano and we make up songs together.”

The possibility of finding a cure gives Colbie’s family hope. “People being aware of and supporting rare diseases is so important,” says Schueneman. “There is so much happening in science and gene therapies that will help kids like Colbie with possible treatments and a cure, but time isn’t on our side.”

 KIF1A Associated Neurological Disorder (KAND): This rare severe neurodevelopmental and neurodegenerative disease is caused by mutations in the KIF1A gene. There are currently over 550 known families impacted by KAND, and over 100 identified mutations in the KIF1A gene, which can cause cognitive impairment, cerebellar atrophy, ataxia, spastic paraplegia, optic nerve atrophy, cortical vision impairment, peripheral neuropathy, and epilepsy. The set of symptoms and their severity vary depending on mutation type and individual patient. Learn more at kif1a.org.

Madison, 11 years old

Rett Syndrome

Madison lives in Carrolton with her mom and stepdad. She has Rett Syndrome. “When she born, I didn’t suspect anything was out of the ordinary,” says mom Erin Smith-Qu. When Madison was a baby, she only army crawled, she never pulled to stand, she would babble but couldn’t say any clear words.

“I noticed Madison wasn’t doing what other kids who are similar ages that I knew were doing,” says Smith-Qu. “I kept wondering why she was constipated and had acid reflux, low muscle tone, and constant respiratory infections.”

Smith-Qu’s background is in adult health and her husband is a physician, but they had never heard of Rett Syndrome until Madison was diagnosed. Madison’s first genetic panel didn’t show anything out of the ordinary. A visit to a specialist in Atlanta gave them more answers. “After about four hours with Madison, he said she has Rett Syndrome. We did a full genetic panel to confirm it. She was 3 1/2 at that point and had already experienced some regression.”

Since her diagnosis, Madison has gone to occupational and physical therapy at CHOA and closer to home in Villa Rica, where she learned to walk with a gate trainer and could ride a bike. While Madison is mostly non-verbal, she understands everything that is happening around her. Today, Madison speaks with an eye device. “She’s very funny and communicates well with it,” says Smith-Qu. “She is in general ed with a one-to-one person who helps her. She will say when she’s bored or wants something specific.”  Madison still says a few words. “Her favorite is ‘bye-bye’,” says Smith-Qu. “She uses it to mean ‘this is not good.’”

Music has a calming effect for many children with special needs, including Madison. “She loves Taylor Swift,” says Smith-Qu. “On days she just doesn’t want to go to therapy, we play the music and it seems to set her mood right.”

Madison’s family loves to get out and about. “We visit the Beltline, we take her to the Fox Theatre,” says Smith-Qu. “We travel. The Atlanta airport is great. The bathrooms have adult lifts for changing. We’ve accepted she’s different, in a wheelchair. We like getting her out and letting people know Rett syndrome is real. While Rett doesn’t define Madison, it does identify her.”

Rett Syndrome: Rett syndrome is a rare genetic neurological disorder that affects 1 in 10,000 females (and even more rarely in males) and begins to display itself in missed milestones or regression at 6-18 months. Rett syndrome leads to severe impairments, affecting nearly every aspect of life: ability to speak, walk, eat and breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Learn more at rettsyndrome.org.

Tanner, 10 years old

CDKL5 Deficiency Disorder

Tanner lives in Woodstock with his mom, dad and two brothers. He has CDKL5 (CDD). At 3 months old, Tanner had his first seizure, and his parents knew something was wrong. “He was diagnosed with epilepsy first,” explains mom Courtney Froy. “They gave us medicine and sent us home, but I knew something else was going on.” About six months later, the medicine stopped working and other symptoms – not making eye contact, being non-mobile, hand-wringing – led the neurologist to order a genetic panel.

At 10 months old, Tanner was diagnosed with CDKL5. “We were lucky to get a diagnosis so early. It’s a benefit of being in Atlanta,” says Froy. “It’s super rare because this is already a rare disease and only 10% of cases are found in boys, so we were surprised.”

Tanner is in a wheelchair, cannot see very well nor communicate. He seems to love music. “Tanner is at peace when it’s on,” says Froy. “In the mornings, my husband and Tanner listen to 90s hip hop while getting ready. He is always smiling.”

“Having a child with CDKL5 has affected every part of our lives and family,” says Froy. “It gives us a different outlook on life.  When you spend so much time in medical facilities, you want the time you spend outside of them to be quality.”

The Froys focus on being kind, happy and healthy with each of their children. “We just want them to have a high quality of life,” says Froy. “That looks like something different for Tanner. It took some time for his older brother Carson to really understand that, since he was 6 when Tanner was born. He wrote a book about Tanner when he was 13 to help raise money for research.”

Fundraising is important for families of children with rare diseases because research for genetic therapies is expensive and the best chance for finding a cure. Every August the Froy family holds a fundraiser called Toasting Tanner. “This year is our 10th one and our community supports us so much with it,” says Froy. “We are on the cutting edge of finding a cure. For kids like Tanner, we need answers soon.”

Awareness around rare diseases is also important to the Froys. “We got a lot of looks when Tanner was younger,” says Froy. “We have spent a lot of time to get people to know him and say hi when they seem him. He loves hearing his name and feeling included. He may look different and need different things, but Tanner is also a person.”

CDKL5 (CDD): CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene. Impacting 1 in approximately 50,000 births (very few are male), the deficiency or deletion of this protein in the brain includes a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Learn more at cdkl5.com.

Rare Disease: A Definition

In the U.S., a rare disease is defined as one that affects fewer than 200,000 people. Cumulatively, there are more than 10,000 rare diseases impacting more than 30 million Americans. Approximately two-thirds of those affected are children. Typically, it takes 5 years or more to receive a correct rare disease diagnosis and this is most often accomplished through genetic testing.

Sources: cdkl5.com, kif1a.org, rarediseases.org, rettsyndrome.org

– Tali Benjamin