Starting a Family

On paper, my wife Krista and I probably looked like we had the ideal situation to welcome a child into the world. We had been married for six years, owned a home, and had graduate degrees, great jobs, and close families. Krista had a totally normal pregnancy and there were no complications when Mason was born. I quickly learned how to change diapers, warm a bottle and function on the minimal sleep an infant allows. Everything was going smoothly. Then around Mason’s four-month check-up, his pediatrician became concerned that even though we thought Mason was doing well, she did not feel he was meeting his visual or gross motor milestones and recommended Mason be evaluated by Early Intervention (EI) and by an ophthalmologist.

We had never heard of EI, but figured we would go along with it and if nothing else, it would be confirmation that maybe Mason was slightly slow to develop but that everything was fine. However, the EI evaluator quickly recommended Mason start receiving physical therapy and visual therapy twice a week. Around the same time Mason’s ophthalmologist requested we take him for an MRI since he wasn’t visually tracking well. So, in the span of a few weeks we found ourselves shifting our schedules to get Mason to his PT appointments, began learning PT exercises to do with a four month old, and got to see our first MRI machine.

The MRI came back normal as did a subsequent Flash VEP, and our ophthalmologist told us she had originally thought Mason was blind but the tests showed he clearly was not. At that point Mason’s rapidly growing medical team referred us to a neurologist and geneticist, both of whom wanted to begin genetic testing as they felt his lack of development was due to a potential genetic condition.

Finding a Diagnosis

Many doctor’s appointments, therapy sessions and months went by and we still thought Mason would eventually catch-up to his peers. The first round of genetic testing came back, but it didn’t reveal anything abnormal so our geneticist ordered a second round of more extensive testing. Before we knew it, it was Mason’s first Christmas. I will forever remember it because he woke up at 3:30 in the morning and would not go back to sleep. He was not hungry or upset, he was just wide awake. Eventually around 6am he fell back asleep for a few hours. I assumed it was just the excitement of Christmas, because why else would he be up for two hours in the middle of the night for no reason? But then it happened again the next night, and the next, and every night there on. We weren’t sure what to make of it, except to add it to the growing list of challenges to worry about.

A few weeks before Mason’s first birthday, Krista called me at work to say Mason’s geneticist had just called to say the latest genetic test came back positive for something called Angelman syndrome (AS). Neither Krista nor I had ever heard of Angelman syndrome, and all the geneticist said was that seizures could be a concern and that we should come in to meet with her. I scribbled down “Angelman syndrome” on a piece of paper (four years later I still have that note on my desk) and started Googling. Immediately symptoms like seizures, minimal speech, lack of mobility, reduced sleep, and extensive developmental delays popped-up. I tried rationalizing it to myself figuring the internet is full of false facts, but it quickly became clear that we were not going to magically wake up one morning and find Mason had caught up to all of his peers.

Our subsequent conversation with the geneticist was pretty un-informative as she didn’t know much but about Angelman syndrome…and it seemed like none of Mason’s doctors really knew much about it either since it only impacts 1 in 15,000 people. Luckily, shortly thereafter we stumbled upon the Angelman Syndrome Foundation and their network of Angelman clinics. Through the foundation we were introduced to a tremendous network of families like ours and were able to get Mason seen by specialists in Angelman syndrome.

Hope for the Future

Mason is now a very happy four year old attending a special education preschool where he receives twenty therapy sessions a week ranging from PT to OT to speech therapy to feeding therapy; and is on a slew of different medications to help with everything from seizures to sleep. After four years and thousands of therapy sessions, Mason can sit-up on his own, hold and drink out of a straw cup, shake a maraca to a beat, and give the world’s greatest hugs. We’re extremely hopeful that in the next year or two Mason will walk independently, will have conversations with us through his AAC device, and will be able to pick-up and eat solid food.

Four years ago, when Mason was born, I could have never imagined the challenges we would end up facing or that the rest of our lives would involve a rare disease I’d never heard of. However, I also could have never imagined the number of families we’d meet in similar situations that want to share their experiences with us, the incredible feelings of fulfilment and pride I’d get from seeing Mason do something as seemingly simple as drinking from a straw or the progress that the medical community could make in developing life changing therapeutics. I’m incredibly hopeful for what the future holds and excited to brag about all of Mason’s future accomplishments.

Written by Steven, Mason’s father

A father with his son sitting in his lap

Angelman Syndrome (AS)

What is it?

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.1

What causes it?

Typically, people inherit a working copy of the UBE3A gene from each parent (so they have two copies). In certain parts of the brain, only the copy inherited from a person’s mother (the maternal copy) is active. Angelman syndrome occurs when there is a mutation (change) or deletion in a person’s maternal UBE3A gene, so they have no working copies of the gene in those areas of the brain.1

What are some of the common symptoms?1

  • Developmental delay
  • Behavioral problems
  • Intellectual disability
  • Severe speech impairment
  • Movement and balance problems (ataxia)
  • Recurrent seizures (epilepsy)
  • Small head size (microcephaly)

How many people have it?

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people globally.1

Common names for Angelman Syndrome

  • AS1

1Angelman Syndrome. Nation Institutes of Health: Genetics Home Reference Website. https://ghr.nlm.nih.gov/condition/angelman-syndrome#. Published October 29, 2019. Accessed December 5, 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact patientadvocacy@ultragenyx.com.