Courageous young lady who manages a rare genetic disease, yet so optimistic.

(C) Carolyn P Hartley

If you could define a caregiver’s life in two words, it could be: Helpless and Hopeful. And if I may add one more, it would be: Intentional.

  • Intentional about finding answers
  • Intentional about sharing what you’ve learned
  • Intentional about being amazed at the smallest wins.

I met Makayla Allison quite accidentally and was immediately swept into her caregiver story. Makayla and Lily’s dad Justin have found a treasure in their little girl’s syndrome and today are intentional about sharing their experiences.

For years, Justin and Makayla met with a host of specialists trying to identify their child’s disorder. Doctors treated a host of symptoms, but the combination of complex health diagnoses did not add up to a treatable solution. That’s one reason why the family founded a helpful tool: Some1LikeYou. The website helps patients and caregivers connect with someone like you to others who also have difficulty finding answers with a host of symptoms, without having to post their private information online. Once a member’s entry is matched in the database looking for the same health conditions, each member is given the other’s email address so they can connect and support each other.

Lily’s Story

Lily’s parents support her joyful approach to life.

At 20 weeks into her pregnancy, Makayla’s water broke when the top of her amniotic sac tore. Doctors at the hospital told the expectant parents that they only thing they could do was a D&C since the baby was still a fetus and legally could not be treated.

They refused hospital treatment and walked out, determined to spend the next 15 weeks on full bedrest, the medication Nifedipine every 4 hours, and a total of 27 ultra sounds to be sure the baby had enough fluid to stay alive. Makayla subsequently went into labor a half a dozen times, even once that Christmas morning. She prayed that the baby not have to compete with the birth of Jesus. “Jesus will trump you every year, sweet girl,” Makayla recalls telling the baby. Lily stayed inside the womb until mid-January and stunned the medical staff she was only 5 weeks premature.

Lily nursed really well, but she had difficulty maintaining her body temperature. At 2 months old, she spent 11 days at Rocky Mountain Children’s Hospital for respiratory syncytial virus and pneumonia. RSV is a highly contagious virus, traumatic for infants as their chest wall is not very stiff and cannot cough up mucus, especially children who are born premature.

Lily was 15 months old when she was diagnosed with global delays, hypotonia and hip dysplasia. They enrolled her in hippotherapy as well as more traditional occupational, speech and physical therapies. Now, more determined than ever, her parents sought early intervention.  She hadn’t been able to walk yet, because of the instability in her hips and low muscle tone. Her doctor recommended a walker and it gave Lily the ability to navigate her own environment. When she was 18 months, Lily began taking charge of her environment. When she first got her walker, Makayla took Lily to her toddler yoga class in Olde Town Arvada. Instead of carrying her as Makayla usually did, she allowed her to use her new walker and let her walk on the sidewalk next to all the shops. She used her walker to go straight up to the side of the brick building and rubbed her tiny little hand up down the textured wall for more than a minute. At that moment Makayla realized there were so many moments Lily could miss out on if she was the one carrying her all the time. Three months later Lily took her first steps on her own.

At 2½ years, Lily woke up one morning and couldn’t walk or talk. She was rushed to Children’s Hospital in Aurora where she stayed for 13 days. There she met Dr. Abigail Collins, a Neurologist at Children’s Hospital. Dr. Collins suspected a metabolic disorder complicated by chronic fatigue and low muscle tone.  Watching Dr. Collins care for Lily was like a scene from House, MD,” Makayla says. “She is an amazing doctor who always treats Lily from all angles of her symptoms and with a passion and drive that has made her into the incredible physician she is.” Previous to this regression, Lily tried to keep up with other children, but after 30 minutes, her energy was spent. Dr. Collins recommended the medication LevoCarnitine for her fatigue and it made a huge difference in allowing her from going to 30 minutes of activities to 60 minutes! She could now even climb a flight of stairs for the first time. For two years, Lily sought a long list of physicians to treat her conditions, gradually helping her gain strength.

When Lily was 4½, she regressed once more and was rushed to the hospital. She began having seizure like episodes and a multitude of other very concerning, some very private, symptoms. She then began complaining of bees humming in her ear, an ENT confirmed it was tinnitus. After ruling out a tumor with another MRI, another Spinal Tap, EKG, several EEGS and series of investigative tests, they continued treating the symptoms as best they could.

At five years old and at the instruction of her doctors, Lily started hydrotherapy swimming to help prevent the continued subluxing of her knee and hip joints, painful partial dislocations. In Lily’s case, her joints thankfully go back in place without manipulation.

Cool Tools

While at Children’s Hospital in Aurora, Colorado, Lily’s neurologist Dr. Collins ordered the Whole Exome DNA sequencing test, a costly and complex test that searches for rare diseases and variants. Previous genetic testing results had indicated Lily had a premutation for fragile X but that didn’t encompass Lily’s symptoms and is not regarded as significant data by most physicians in premutation values. Fragile X syndrome is a single missing protein vital for normal brain function, but the pre-mutation significance is still being researched. The Whole Exome DNA sequencing test did not have any significant results.

Lily’s developmental pediatrician, Dr. Edward Hoffman does an amazing job putting all the complicated puzzle pieces of Lily’s conditions together. “What I like most about Dr. Hoffman is that we witness him ‘doctoring’ at every visit. He taps his foot, thumbs through his medical textbooks and thinks out loud. He never once has disregarded any concerns we have had. He talks to Lily directly about how she is feeling. He tells it to me straight and evaluates every symptom. I trust him,” says Makayla.

At the suggestion of Dr. Hoffman, Lily’s parents compare a complete list of Lily’s symptoms and diagnoses that related to a rare syndrome called Ehlers Danlos Type 3, Hypermobility, or EDS-H. Lily had 19 symptoms commonly found in people with EDS, 13 additional symptoms that can occur more commonly in people with EDS, and 3 additional symptoms that are sometimes found in the EDS population. The puzzle pieces were finally coming together, and after a significant increase in joint pain, Dr, Hoffman then referred the family to Dr. Gary Bellus, a geneticist who diagnosed Lily with Ehlers Danlos Type 3 (aka EDS-HT), an extremely rare inherited connective tissue disorder caused by defects in the protein, collagen. Symptoms included global joint hypermobility, bruising and pain.  As of March, 2017, there are now 13 identified subtypes of EDS. Lily’s form of EDS (hypermobility Type 3 or EDS-HT) is the only subtype without an identified genetic marker, which is why it didn’t present itself on her genetic testing.

“Finally, we had a syndrome that we could begin treating for what it was. Lily’s data is in the genetic testing system and her story can help lead the fight to find a cure for this disorder,” Makayla said.  According to current research, about 1 in about 10,000 have been diagnosed with Ehlers Danlos Type 3 (EDS-HT), but the actual number is suspected to be more like 1 in 5,000.

Lily continues to be brave while her parents help her manage her health conditions. She has developed her own mechanism for getting through pain. She closes her eyes tight and whispers, “cupcakes and rainbows.” She told Makayla that in her mind she gives herself stickers BEFORE the doctor’s do at the hospital to help her be brave before she has to do something that scares her. Those “stickers” are pictures in her brain of the things that bring her the most happiness such as cupcakes and rainbows. Lily is homeschooled, an active Girl Scout, plays the piano, attends Little Medical School, and is on the Colorado Special Olympics Swim Team. She wants to be a Veterinarian when she grows up.

Lily prefers to walk short distances rather than use her wheelchair. On a good day she can walk up to 45-60 minutes before needing to use her wheelchair. If she has had a recent hip, knee or ankle sublux however, she will need to use it much sooner. “She will battle chronic fatigue, joint and muscle pain for her entire life. She is now learning how to best take care of her joints to prevent the pain from limiting the activities she does want to do.

One of the hardest parts as a parent is seeing how others treat her differently when she is in or out of her wheelchair because she notices it, too. She doesn’t look like she has a disability! So sometimes it’s difficult for people to see a child, apparently healthy, step out of a car parked in a handicap zone at the mall or at the zoo,” Makalya says. “But if they waited, they’d likely see her return, fighting pain as she maneuvers her wheelchair back to the car.”

Lily’s occupational therapist is high on using tools to help Lily navigate her own environment. For example, Touch and Learn Emotions is a free app that helps kids gain emotional awareness. Lily also is learning to manage her sensory processing disorder to better navigate her own environment. For example, her family includes joint compressions, weighted blankets, spinning board, mummy bags, among other experiences to help Lily connect feelings with objects.

Finally if it hadn’t been for a consolidated patient portal, My Chart, offered through Children’s Hospital, Makayla says it would have been impossible to remember all the diagnoses, medications, test results, and communication with providers involved in Lily’s previous and continued care.

Some1LikeYou

Lily’s parents are moved and amazed at the small wins that have helped Lily. A business idea to help others germinated as Makayla met weekly with other moms of children with special needs. Nearly half of the moms in her group said they wouldn’t post stories about their children on Facebook or Social Media, primarily for privacy.

“We created Some1LikeYou.com to help caregivers and patients maintain their privacy, and still offer a confidential way to find someone just like them to identify with. Physicians tell us they cannot refer patients to others like them for HIPAA privacy reasons, but they would feel comfortable referring individuals to Some1LikeYou so that patients can find each other privately.”

 

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