ONCE UPON A GENE - EPISODE 026 - How Our Rare Kids Can Shape Us
Molly D'Angelo is sharing her adorable son's story with us who has a rare genetic disorder of obesity. People can be very judgmental and cruel. Rare parents watch their kids struggle so much and we have fear about their futures on a regular basis. We grow a thick skin, but even we are not immune to the ignorance and unkindness we can receive. Stories like Josh's help spread awareness and educate us all to have more compassion and understanding.
EPISODE HIGHLIGHTS
Tell us about your family.
We're a blended family with three boys. My oldest is almost 16. My middle son is my husband's and our youngest is Josh. Josh, who will be 5 in a few months, has a rare genetic disorder of obesity.
What causes the obesity disorder? Is it a genetic mutation?
In rare genetic disorders of obesity, there's a lot of unknowns still. There's a lot of research being done on a lot of syndromes. Currently, we believe we've found Josh's mutation, but he is the only one with that specific variant chance. Because he's the first reported case, things are complex with regards to getting approval from the insurance company and getting services. The condition is related to Bardet–Biedl syndrome (BBS) which is in the rare genetic disorder of obesity family.
After your son was born, when did you realize something was different?
We had some idea when I was pregnant that something may have been going on, but we just didn't know what. We had spina bifida come back as a possibility when we did prenatal testing, which planted the seed for us that something might be going on. My husband and I recognized right after birth that Josh was fussy and needed extra care and attention than our other boys did. It wasn't until Josh was about 6-10 months old when I got the doctors to recognize our concerns and start referring us to endocrinology and genetics specialists.
How do you combat human stupidity and general unkindness in looks and comments geared towards you as a parent and also Josh?
It took a long time and lots of grace. I recall a time I went to the grocery store with Josh. At the time, he was in a medical grade stroller. I remember an older man approaching me and he used the r-word to describe Josh and relate him with someone in his family. I had to take a deep breath and consider this was someone who may be from a different generation or background than me. I shared that term wasn't one that we used anymore and I explained about Josh. I explained that Josh was very smart, knew his ABC's and 123's, even though he couldn't communicate it as well as other children. I try to use these moments as opportunities to educate. On the flip side of that, we went to the doctor today and as we were checking out, there were three lovely little girls that wanted to embrace him, they said hi and one was showing him her doll and it was so sweet. You have to take it one moment at a time, take it with grace and try to educate as many people as possible.
Does Josh also have an autism diagnosis?
He does. When he was about 12 months old, we had our first evaluation done. He was diagnosed officially when he was 18 months, which is the earliest marker where you can be diagnosed. The earlier we could get a diagnosis, the earlier we could get intervention and statistics show that the earlier you can get that intervention, the more helpful it is long term for your child. We went to early intervention with our local school district and then we did physical therapy through our state local hospital. Then we ended up at a private center, which is where we are now. They do the ABA, OT, PT and speech all in one location. He goes 5 days per week, only 3 hours per day right now. Eventually, I'm planning on homeschooling.
What are some of Josh's favorite things?
Josh is so happy and everything makes him laugh. We didn't know if he was going to be happy because he was fussy for so long, but now he's always happy unless he's feeling sick, tired or something is wrong. He's such a joy. He loves bubbles and watching his dog and brothers run around.
What's Josh's relationship with his brothers like?
His brothers are incredible. We really worried about them and how this was going to affect them. Last year especially, we saw a big shift in coming together as a family and really supporting and taking care of each other. Before that, they stayed out of his way and if he was having a hard time or a bad day, they gave him his space. Now, they just want to be around him as much as possible and Josh looks up to them because they're big brothers and super cool in his eyes. I see a transition in my oldest wanting to help and caregive in a way. Our middle son is the same way in that he's loving and supportive. I believe we were all blessed with Josh's presence in our lives for a reason and those boys, as much as they might miss out on going to the beach or other things people take for granted, they're not missing out and they've been given a whole new experience that's going to shape them into the men they're meant to become one day.
What kind of advocate has this made you?
I never sought out advocacy, it just happened, which means it's my purpose and must be some type of calling that I'm meant to do. I'm a parent advocate for Josh and I have fallen into a position of being a voice for the rare genetic disorder of obesity, spreading the word in a positive format. We share our story to educate that not all people with obesity sit around and eat all day.
What do you want people to do or say when they meet Josh?
When we're out and about, there's always someone who doesn't know how to act or respond. I think a lot of people were taught not to look at people who look different, but we're as a collective whole in the special needs community coming together to let people know to treat everyone how they'd want to be treated. Look at that person and say hello. And if you have questions, feel free to ask if the parent seems receptive. People with special needs are a minority and it's time for inclusion for all people. It's time to accept people for people.
LINKS AND RESOURCES MENTIONED
Molly D'Angelo Instagram (@mollyedangelo)
LEAD for Rare Obesity on Facebook (@LEADforRareObesity)
Love What Matters on Facebook (@lovewhatreallymatters)
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