Prior to her daughter Avenly’s diagnosis, Lacy Biram had never before heard of Phelan-McDermid syndrome (PMS). Currently, there are an estimated 2,200-3,000 people worldwide who have this rare condition. For Lacy, sharing Avenly’s story and raising awareness is crucial. She explains:

I think the more we’re able to spread awareness about children like ours, the more people will come on board to help come up with a cure, a therapy, equipment, medicine. There’s too little known about children with PMS right now. Without advocating, they aren’t getting the diagnosis they need. Things aren’t being developed.

So Lacy has done her part to support her daughter. Lacy corresponds and advocates alongside other mothers within the rare disease sphere. She records videos about Avenly’s extreme hypotonia. And she’ll soon be taking part in the Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome, sharing Avenly’s story and helping to drive home the impact of PMS.

Recently, Lacy and I sat down to discuss what Phelan-McDermid syndrome is, her daughter’s diagnosis and their family’s journey, and advice for newly diagnosed families.

What is Phelan-McDermid Syndrome (PMS)?

Also known as 22q13.3 deletion syndrome, Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the long arm of chromosome 22 or a disease-causing SHANK3 mutation. While this disorder can be inherited, most cases occur spontaneously. In Phelan-McDermid syndrome, many children show symptoms at birth or within the first six months of life. As Lacy explains:

PMS causes global developmental delays, absent to very-late speech, epilepsy, difficulty sleeping, trouble toileting, and autistic-like behaviors.

In fact, around 75% of individuals with PMS have Autism Spectrum Disorder. PMS is a variable condition; symptoms and severity may vary between those affected. Potential additional symptoms and characteristics include:

• Hypotonia (low or weak muscle tone)
• Heart and/or kidney defects
• Epilepsy
• Behavioral difficulties
• Gastroesophageal reflux
• Difficulty eating or swallowing
• Nausea and vomiting
• Dolichocephaly (a head shape that is longer than usual from front to back)
• A flat midface with a wide brow, wide nasal bridge, deep-set eyes, and full cheeks

Lacy and Avenly’s Story

Lacy Biram loves her four children, ranging in age from nine to eighteen. She would do anything for them – and that means raising awareness of Phelan-McDermid syndrome, which her youngest daughter Avenly was diagnosed with at just one year old.

Avenly was born full-term; for the first few months of her life, she seemed like a typical happy, healthy newborn. However, after these months passed, Lacy became concerned. She shares:

It was pretty easy for me to spot the differences between Avenly and my other kids soon after she was born. She wasn’t meeting milestones. Avenly couldn’t hold her head or her body up, and she wasn’t following objects if you moved them.

At six months old, Lacy began bringing up these missed milestones with her pediatrician. The doctor ran some tests, but nothing came back. When Avenly turned ten months old, the pediatrician referred the family to genetics. Avenly underwent a chromosomal microarray and was eventually diagnosed with PMS the day after her first birthday. This diagnosis was somewhat unexpected. Lacy explains:

Our geneticist had actually seen Phelan-McDermid syndrome in other patients, but she didn’t suspect that with Avenly because Avenly presents differently than with other children. She’s on the extreme end of the spectrum. She also developed epilepsy very early, with seizures starting at fourteen months old and the diagnosis at two years old.

The Diagnostic Journey (and Struggles of Being a Medical Mom)

When the genetic counselor first called Lacy with the diagnosis, Lacy felt frustrated by the lack of information provided to her. She shared:

The GC didn’t even try to explain what PMS was. I was told to just Google it and then let them know if I wanted to be seen again. The geneticist was more helpful but it was still a frustrating experience. When I googled PMS, the information was also not very hopeful. It said that she would never be able to walk, talk, or live independently. Those things might be true, but there’s an easier way to learn about it.

As she came to terms with her daughter’s condition, Lacy also became aware of some of the struggles of being a parent in the rare disease space. She explains:

It’s incredibly tough to get anything to happen for your child. You need medical equipment, appointments, insurance to cover things that aren’t standard. It seems like everything is a struggle or a fight. I had no idea that parents had to deal with that. Luckily, I’ve met other PMS moms and other special-needs moms and they’ve been an incredible support system through this journey.

But, she explains, being an advocate is necessary:

You have to never give up to have anything happen for your child.

Avenly Today

Currently, Avenly’s most impactful symptom is her extreme hypotonia, or extremely weak/low muscle tone. According to Lacy:

Her hypotonia is really why she’s unable to stand on her own, sit up for any period of time, or get into a crawling position. Avenly is non-mobile. She sometimes struggles to even roll over and it’s really just from being hypotonic. There are no treatments for that. External bracing may help when she’s wearing them but they don’t offer long-term support, and there’s nothing really permanent out there.

Outside of that, Lacy describes her family, and Avenly’s care, as being in a “holding pattern.” They’re trying to reduce her seizures without overmedicating her. In some cases, a ketogenic diet has been found to be helpful. However, Lacy is waiting until she can speak with Avenly’s doctors to launch the diet. Until then, Lacy says:

We’re just trying to get through as best we can.

Lacy will continue to advocate for Avenly, and other children with PMS, for as long as she can. She will push for research into gene therapy; she will ask for studies into bladder issues, hypotonia, and how to treat PMS-related epilepsy. And she’ll encourage and support others along her journey because that’s what this amazing community does.

Advice for Phelan-McDermid Syndrome Families

In fact, this support is a huge part of the advice that Lacy has for families who might be facing a new diagnosis: always reach out for help. She stresses:

There are people who are willing and able to help you every step of the way. So never feel like you’re alone, because you’re not.