What should have been a happy time in Penny’s life soon turned into one of the worst things she could imagine.
WORDS CHRISTEL GERALYN GOMES
When Penny and her husband first brought their baby boy, Silas, into the world, on a sunny November day, they were bubbling over with joy and filled with hope and dreams. “Silas was born in November of 2012 with fiery red hair and bright blue eyes. He was healthy and looked so perfect; we were in love from the first second we laid eyes on him,” she says.
The pregnancy was very healthy and Penny describes her delivery as “short and easy”. Life was absolutely perfect and many a day was spent in blissful snuggles with her precious bub. It was only two weeks after bringing their little one home that an unsettling feeling began to creep up on Penny… something was off.
At first, it was nothing obvious, just things that sometimes happen with a new baby. “He could not effectively breastfeed and was spitting up constantly. We noticed that he was not making eye contact with us and he had no interest in playing with any toys,” says Penny. That she couldn’t breastfeed her child made Penny feel like a failure, but there was nothing she could do but trudge on.
“However, as he failed to meet more and more of his milestones we started the journey of getting a diagnosis,” she says. Unfortunately, this would turn out to be an absolute nightmare of a task. It would be a long and arduous couple of years before any headway was made – doctors just didn’t know what was wrong!
There was Simply no Diagnosis!
“His constellation of symptoms does not match any known disorder or syndrome” – was a sentence Penny and her husband heard over and over again.
For two years, Silas was subjected to test after test,
countless needles and never-ending appointments.
Penny explains, “We saw several different Genetic Doctors and they were also not sure. They ran several single gene tests to rule stuff out and they all came back negative. Silas has an amazing Genetic Ophthalmologist who became really interested in his case. Eventually, he and his team were ready to give up. They ordered a ‘Whole Exome Sequence’ and gave us a 25 per cent chance of getting a diagnosis. They said we would get a referral to the National Institute of Health if there was no diagnosis.”
In the meantime, well-meaning relatives and friends said things like “maybe he’ll grow out of it” or “so-and-so didn’t talk until he was five, and now he’s a genius.” As hopeful as these comments were, they were also frustrating to hear. “There is nothing more painful than knowing your child inside and out, and not having anyone in the medical field who will listen to your parental instincts,” says Penny.
The End of a Long Road
Finally, just before his third birthday, Silas’s genetics team finally had an answer – he was diagnosed as having ADNP Syndrome and a mutation of Retinitis Pigmentosis; a Retinal disorder that causes gradual vision loss.
According to the ANDP foundation, "ADNP Syndrome is an extremely rare neurodevelopmental disorder caused by a mutation in the Activity-Dependent Neuroprotective Protein (ANDP) gene. […] It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, problems with hearing, growth, feeding and sleep. It can also cause mild to severe delays in intelligence, speech and motor planning. [It also] causes behavioural disorders such as Autism in a substantial proportion of cases.”
Penny and her husband were told that what Silas had was so
rare that he was the thirteenth patient in the world with it.
Naturally, there was very little information out there.
That said, to finally have a diagnosis was both surreal and comforting to Penny.
Several conversations were then had about what this meant for the family and their lives. “There is no treatment for ADNP Syndrome or for Retinitis Pigmentosis. The only advice that the doctors had for us was to start getting evaluations by different specialists and to be vigilant with all of the different types of therapies.” The couple soon realised that there were no doctors in the US specialising in the disorder. Instead, Penny had to go online and educate herself about it, and in turn, educate her doctors.
What was perhaps hardest, was the realisation that there wasn’t any hope of Silas ever living a normal life. His diagnosis meant that he’ll never get to move out, fall in love, or have his own kids. “There are certain things we just can't do as a family anymore, like going out to eat or family events with lots of people. Silas has a hard time with noise and large crowds,” Penny says. “It’s also really hard watching his brother want so desperately to play and get very little interaction in return,” she adds.
The couples biggest fear is not knowing what will happen to Silas after they are gone. Silas will always need 24-hour care.
Today, Silas is almost six years old. Life is pretty busy in the FitzMaurice household. Penny says, “Silas goes to preschool and has four to five therapies a week, plus doctor appointments. I also try to make life as normal as possible for his brother, Ramsey. Silas does love to do things most normal kids love. When the weather is nice, we spend a lot of time at the park. He loves water play and swimming. We spend time with friends and family. We try not to focus on the hard stuff but celebrate the lovely family that we have instead.”
Penny also tries to give Ramsay one on one time as much as possible. “Ramsey is so sweet with Silas,
but he does get frustrated sometimes about how much more attention Silas needs. We make time
for one-on-one outings with Ramsey to help him know how much he is loved as well.”
Despite everything the family has been through, Penny is deeply grateful for many things. Above all, for the incredible bond she has with her husband; “We are so lucky to have a strong marriage, it's made going through this so much easier.” She is also thankful for the community she’s found of other people who have children with rare diseases. “The most positive thing has been experiencing the love of this community. His syndrome has really opened my eyes to the rare disorders world as a whole and all of the different ways we can all support each other. I’ve met some incredible people along the way and made some lifelong friendships.”
You Don’t Always Have to be a Warrior
Sometimes things are hard, especially since Silas in non-verbal, and can’t really tell them how he’s feeling. Penny also knows that Silas will lose his vision at some point. She says, “We aren't sure about the rate at which that will happen. For now, he sees mostly fine and we are hoping it doesn't happen until much later in life. But we see him being pretty similar to how he is now. Just a larger version of a happy little kid. We have high hopes for some potential future treatments, but even if there is never a cure, he will always be so loved.”
Penny is now working on giving herself permission to be sad when she needs to be and thinks that others going through similar situations should do the same. She says, “There’s this expectation within social media and the way special needs parents are portrayed that can really affect how you allow yourself to feel. We’re expected to be strong warriors all the time. I am, but it’s also okay to be sad and cry at the same time. It’s okay to recognise that this is all really hard. You can find even more strength when you allow yourself to ask for help and really feel your emotions.”