10 Minutes With: Jennifer Bothe
Meet Jennifer, a nurse, and mom to Ella and Ethan. Below she talks about what it’s like to have a child (Ethan) who was born with Chromosome 18q Deletion Syndrome, the wonderful sibling relationship between Ella and Ethan, and how deciding to share her story publicly through her blog and Instagram opened up a huge support network.
MTEAM: Tell us a bit about yourself and your family.
JENNIFER BOTHE: My name is Jennifer Bothe and I grew up in a small town called Sherwood Park, which is located in Alberta, Canada. Sherwood Park was home for 29 years, and then we got an opportunity to move to the USA (North Carolina) for my husband's job which we decided to take, and we have been here since 2015. I have two children, Ella (3-years-old) and Ethan (15-months-old), and 2 dogs (Dexter and Maya).
MTEAM: Ethan was born with Chromosome 18q Deletion Syndrome. For those who haven’t heard of this, can you help us understand a bit about what it is and how it manifests itself?
JB: Chromosome 18q Deletion is a rare genetic condition which leads to a variety of medical diagnoses. It occurs in 1/55,000 children, and can be inherited from a parent or it can be "de novo" meaning it is unique to the child. Ethan's case is "de novo" meaning neither myself nor Kyle has any characteristics of the deletion. Just as the condition is rare and unique, so is its presentation in each individual child. Every case manifests differently, and therefore the doctors cannot paint a very accurate picture of what Ethan's future will look like. We are working mostly with % chance of him developing various medical conditions.
So far, Ethan has largely been affected by his deletion from a developmental and growth standpoint. He has hypotonia (which means very low muscle tone), which can make it difficult for him to achieve his motor milestones. The low muscle tone has also contributed to some swallowing difficulties, so he has dysphagia and needs to have feeding therapy. He struggles with a lot of difficulties with allergies, which present both anaphylactically and through severe eczema, and he has been diagnosed with FPIES (Food Protein Induced Enterocolitis). Most recently, we have found that Ethan has a severe growth hormone deficiency, and we are looking into insurance approval to start hormone replacement therapy. A lot of 18q- children have cognitive delays as well, but Ethan is too young for us to know the true extent of his cognitive abilities.
MTEAM: Tell us a bit more about Ella and Ethan (How old are they? What do they love most? What makes them happy? What makes them uniquely Ella and Ethan??)
JB: Ella is 3-years-old. She is fiercely independent, and firey. Her aunt describes her as an old soul because despite her free spirit she is undeniably caring and empathetic. Ella was recently diagnosed with childhood apraxia of speech (CAS), meaning she has problems with the motor pathways of speech development. She knows what she wants to say and has no difficulties with understanding, but she cannot make her mouth do what she wants in order to make her speech intelligible. She is in speech therapy 3x a week and has made incredible progress. My heart breaks for her when I know she is trying to tell us something and we cannot understand, but she is incredibly determined and has made amazing progress even in the last four months, so I know this is something she will be able to overcome. She loves her family, swimming, dancing, going to the park, playing hockey/soccer outside, horses, and Paw Patrol. She's also incredibly funny and full of personality.
Ethan is so different from his sister. He is cuddly and affectionate and a lot less fearless. He is without a shadow of a doubt the sweetest, most genuinely happy soul I have ever had the pleasure of interacting with. His big brown eyes and smile bring joy to any room. He spends most of his days giggling and smiling. He is social and loves to interact with people and has an undeniable ability to make whomever he encounters instantly fall in love with him. Since he started crawling, he gets into all sorts of trouble, it's amazing as a mother to see his natural curiosity blossom even if it keeps me on my toes! He loves Ella, his family, his puppies, The Wiggles, dancing to any music, playing in the water, and being cuddled.
MTEAM: What’s a typical day in Ethan’s life like?
JB: Every day is different! But a typical week involves a lot of therapy. Ethan currently participates in physical therapy, occupational therapy and feeding therapy on a weekly ongoing basis. It's funny how fast these providers work their way into your family, and we truly think of them as family now. Without their help and early intervention, I think it's safe to say that Ethan would not be nearly as far along as he currently is. We are so grateful for all their help. Between the regular therapy, we have a lot of appointments with specialists. cranial specialist (for his plagiocephaly, which is why he wears a helmet), GI doctor, urologist, allergist, orthopedic surgeon, endocrinologist, and more. When we are not at the doctor, we are busy playing together or with our friends or, practicing his skills.
MTEAM: What have been some of your biggest challenges and the best rewards along your journey with Ethan so far?
JB: I think the biggest of my challenges have been emotional. Yes, you become busy and it's hard to balance everything, but the emotional weight that having a child with unique needs brings is something that is impossible to understand until you are living it. It is so incredibly difficult to watch your baby go through such big challenges in life (especially at such a young age). I've said before that I think this is where the expression "loving someone so much it hurts" comes from, because seeing your children hurt makes you, as a parent, hurt ten-fold. No one wants to watch their child struggle in any capacity, so being forced to do this over and over can be grueling. It was important for me to find people to talk to, and to accept that Ethan is on his own unique timeline and shouldn't be compared to anyone else. Once I allowed myself this little bit of grace, things have been so much easier. As for rewards, I think every day I get to spend with Ethan is a gift. Having a child with unique needs comes with a lot of uncertainty about their future, so I try to see every single day as a blessing.
MTEAM: Tell us a bit about Ella and Ethan’s relationship. What do they like to do together? Do you have any advice for parents on how to explain a special needs diagnosis to a sibling?
JB: Ella is an incredible sibling to Ethan. I really hit the jackpot with her as a sister. Ethan could spend all day laughing at her crazy antics and he is in complete awe of her. As a mother, it is so heartwarming to see them interact. His love for her is undeniable and to say he already looks up to her would be an understatement. Ella is the perfect sister for Ethan. She senses his vulnerability which allows her to be extremely empathetic and caring. She never hesitates to lend a hand with Ethan; she loves to feed him, help with baths, share her snacks and toys with him, help take care of him, and give him hugs and kisses when he is hurt (or even when he isn't). When he cries, she always tries to make him laugh to cheer him up. She also watches all of his therapy appointments very closely (she is fiercely protective). I can see their bond growing stronger every single day. He makes her a better person and learns so much from her.
As for advice on explaining a diagnosis to a sibling, I have none... does anyone have advice for me?! Ha ha! Truthfully, we haven't told Ella that Ethan is any different than any other child, and as a result she doesn't treat him any differently, and I think that's what most children with different needs want. They just want to be loved and treated the same as anyone else.
MTEAM: Share a memory of one time you were especially proud of each of your children!
JB: I know this sounds cliche, but I am truly proud of each of them every day. They both fight their own battles, but I'm so proud of who they are becoming. Ella is polite, kind and loving and her speech is getting more intelligible every single day. Every speech session she takes part in fills me with pride because she works SO hard coming up with the right sounds and words. And when she finally achieves something very difficult that she's been working on for a long time, she beams with the same pride that I do! I make a point of telling her how proud we are of her and all her efforts every single day.
Like Ella, I'm proud of Ethan every day. Every test, procedure ,and doctors appointment, no matter what they are doing, he meets it with a smile. He is already very patient, allowing clinicians to poke and prod him, and his positivity is contagious. Something that really sticks out to me is when Ethan started to crawl. It was something we were told he may never do, so after 14 months of working towards it, to watch him actually accomplish it filled me with overwhelming and intense emotions. It was so raw and real, I cried and cried. I was so unbelievably proud of him.
MTEAM: Your blog and Instagram are full of beautiful stories and photos, especially of your family. What role has this community played for you along your journey as a special needs family and why are these creative outlets important to you?
JB: I don't think I could possibly put into words how important the "special needs" community has been for us. After receiving Ethan's diagnosis, I felt broken and lost. Living in a different country with no family or friends really didn't help that feeling, so I started aimlessly searching around, desperate to connect to someone who knew what we were going through. I found a few 18q- groups and the research society, but it wasn't until about six months ago when I started my Instagram page and blog for Ethan that I really started to feel this sense of community.
Kyle and I had a long talk about sharing Ethan's story publicly, we had been extremely private people up to that point (except with our close friends and family), and in fact a lot of our closest friends didn't even know about Ethan's medical diagnosis... but it was those feelings of being lost and disconnected with the special needs community that spurred me on to publicize Ethan's journey. I think it was one of the best decisions I could have ever made. All my fears about posting publicly have been replaced by the overwhelming sense of community and positivity. I can truly say that some of the social media relationships that I have fostered as a result are now true friendships. It's also an incredible platform to raise awareness for rare diseases and conditions, and even as a nurse I am learning so much every day about different conditions from other parents who share about their children too. It's so amazing to find a group of people who truly get what you are going through on a day-to-day basis even if their child doesn't have the same diagnosis. We have expanded our cheering section by hundreds of people and I'm so grateful to everyone cheering Ethan (and Ella) on from afar.
MTEAM: What key changes would make this a more inclusive world for children like Ethan who have special needs?
JB: This is such a tough question. When you google the word inclusion, the definition that comes up is "a model whereby special needs students spend most of their time with non-special needs students."
Frankly, inclusion is a lot more than a child's proximity to children with different needs than theirs. It transcends just actions... It's an entire thought process. It's acceptance and welcoming. It's how you talk to families. It's equality and opportunity. It's appreciation, participation, and respect, and it's treatment. It's how you treat those around you who may be different in any way.
As parents it's really important to put information out there, to continue to advocate and be a voice for our children who can't speak for themselves. Doing interviews and articles like these are a great first step to raising awareness. A quote that I read a long time ago that has always stuck with me is, "I wouldn't change you for the world, but I would change the world for you.”
MTEAM: If there was one thing you’d most like the world to know or understand about Ethan or about Chromosome 18q Deletion Syndrome generally, what would it be?
JB: The message I would choose to convey about 18q or any medical diagnosis really is that you need to expect the unexpected. Children are so resilient and so much stronger than we give them credit for. Your child will do so many things that all children do, but it will be on their own timeline, so don't compare them to other kids. They are unique. Allow yourself to accept that things will happen at a different rate and you will be able to celebrate even the tiniest milestones as huge successes! Miracles happen every day, so never give up on your child!