Sarah - Apert Syndrome
Sarah, grade 2, has a rare disease called Apert Syndrome. Apert is classified as a craniofacial anomaly, but it affects every bodily system. Common problems include sleep apnea, chronic sinusitis and ear infections, trouble breathing, fine motor skills delay, cardiovascular issues, psychological/behavioral diagnosis, and skin disorders. This rare genetic condition is apparent at birth, according to rarediseases.org. “People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet.”
When Sarah’s mother and father found out that Sarah had this disorder, they cried together. They had no idea what they had to expect in the future of their daughter, and it was all scary to them. “We had no idea prenatally,” Sarah’s mother, Jeannie, said. Honestly, this is not the first time I heard of parents being scared. I don’t know the experience of having a child myself, but from what I’ve heard from other parents that I have interviewed in the past, it’s scary. Scary isn’t even the word to describe it. It’s more like terrifying is the right word for it. However, the love that these parents have for their children is unlike any other. Regardless of not knowing what to expect, these parents keep their children and treat them amazingly. They take amazing care of them. Jeannie is no exception. She has another child with OCD and ADD, and honestly, she is a role model, taking care of her children knowing that there is no way she can predict the future of her children, which is immensely terrifying. I commend her for her hard work, and it also goes to the other parents I have interviewed as well.
Like many other Rare parents, Sarah’s family’s life revolves around appointments, appointments, and more appointments. “Everyday something is scheduled, whether it’s a check-up, follow-up, initial intake, therapy/counseling, IEP case conference, etc. Sarah takes specific medications with breakfast and different ones before bedtime. She wears a CPAP (continuous positive airway pressure: a breathing therapy device). Because she has a lot of support in place, we have finally established a routine, but it’s still difficult to juggle it all with 5 kids.” Many parents have told me that taking care of a rare child is not easy at all. Kudos to Sarah’s parents for not only taking care of ONE child, but FIVE children.
I asked Sarah’s mother what this does to their family financially and she said, “During the first 3 years of Sarah’s life we had to do big fundraisers annually in order to stay afloat of the medical bills. She had the majority of her surgeries during that time. Then she qualified for the Indiana state waiver program called the Family Support Waiver. From that, she receives Medicaid as secondary insurance, which has greatly reduced the financial burden on our family.” Parents who have children with rare diseases usually struggle financially. I’ve heard a lot of stories of parents who have had to quit their jobs to take care of their children and that they usually rely on the government or on donations. I have a donations site set up in order to provide for those who really need the money, so feel free to check that out and donate! Anything helps!
Sarah wants everyone to know one thing: “Hi, I’m Sarah, and I love to make people smile.” Sarah, it is so nice to meet you. Although I did not get to meet you in person, just hearing about you through your mother makes me very happy and it makes me smile. I want you to know that I think you’re an extremely brave child, and you have the best parents in the world who love and care for you. I hope that when you get older, you read this message and know that you are extremely fortunate to have people who love and care for you very much.
So everyone has a support system, and Sarah has had many people who have been supporting her in her journey. Sarah’s mother tells me, “Actually, everyone in our sphere of support has been very, very accepting of Sarah. We have very rarely experienced difficulty with others in our lives loving Sarah as she is. I would say that it’s still a long, arduous journey when you have a child with a rare disease, because so few people truly understand it - unless they are living it. And it’s hard to find others who are living the same reality you are. To others who have kids with Apert syndrome, just take each day as it comes. TAhere will always be surprises - good and bad - but remember to love your kid and take the time to notice how she/he is blossoming in his/her own way.” Jeannie ends the email with a very inspiring message, not only to those who have children with Apert syndrome, but also to those in the Rare family. You are not alone at all. You have a whole entire family behind you who will continue to support you in all your endeavors. I hear of rare patients doing incredible things all the time. I mean, take a look at Isabel Bueso. She did not let her rare disease stop her from doing huge and life-changing things. Don’t let a disease stop you from doing what you are passionate about. Trust me, you will always have people out there who are going to stand by you, always. I’m one of those people, I promise.
At the end of the day, you matter. You are in this world for a reason. It doesn’t matter if you aren’t like the rest, because, I mean, who wants to be like the rest, right? You want to stand out and be your own person, am I right? Pursue your passions! Do what makes you happy! Ignore what anyone else says. You do you.
It’s been a while since I have posted on this blog. I have been so busy with just life. Now that I’m getting into college, and getting more used to it, I will be able to update the blog more often. I’m actually getting into rare diseases, such as Tay Sachs, and am trying to pursue a career in research. Thank you all for helping me find my true passion. Thank you for letting me be a voice for you all. It makes me feel so happy knowing that you all trust me to tell your story on this platform.
If you would like to read more on Apert Syndrome, please check out the following links:\