ONCE UPON A GENE - EPISODE 021 - A Healthier Healthcare for All
Christie Olson is interviewing me and we’re firing up a conversation about the healthcare challenges along my journey with Ford in hopes that it shines a light on some of these issues that parents face regularly.
EPISODE HIGHLIGHTS
Effie, introduce the Once Upon a Gene podcast.
On October 31st, 2019 I launched my podcast, which I started in order to have conversations about raising children with disabilities and rare disease. I wanted to help create a community for parents with families like mine.
Let’s talk about how we know each other and how we met.
At our mutual favorite place, Kindering,our local birth to three center, there’s a program for kids around 16 months old where you can bring them out of the home setting and bring them into a mini preschool setting where the parents come to the class as well. We met because your son, Peter was in the same class as Ford for a few months.
Introduce you son, Ford.
Ford is my favorite subject. He’s the brightest light, so hard-working, so smart and so funny. His laugh is constantly in my head- I hear it all the time. He has this spirit about him that brings you down to Earth, He loves the comfort of his home and his stuff and being with family. He loves weather, being outside and the wind on his face. He’s really easy going and he just never gives up. He’s the hardest working person I’ve ever met.
Talk about when Ford began receiving outpatient therapies from Kindering.
Ford was admitted into Seattle Children’s at about three months old for failure to thrive. When we left after about a week, I think they set things in motion for us. I don’t recall making those calls, although maybe I did. I think Seattle Children’s played a huge part in connecting me to Kindering. They set up an evaluation for Ford and I brought him in and theses two therapists did a few different things with Ford. I was really emotional and not really understanding the scope of what was going on with Ford at the time and they were so calm with me and so patient. They confirmed that Ford definitely needed therapy services, that he qualified and that they would contact me. When they contacted me, they also said Ford qualified for home visits, which was the biggest relief. We were set up with speech therapy, physical therapy, occupational therapy and vision therapy. We then found our footing with which ones we needed to focus on more.
Can you tell me about what Ford’s diagnosis is?
Ford was diagnosed with CTNNB1, which is a gene that mutated. It’s a random occurrence and not something that Casey or I passed down to Ford. That gene specifically is in charge of producing a protein called Catenin beta-1 and has lots of jobs that has to do with cell growth, reproduction, cell adhesion and it affects many parts of Ford’s body. There’s cognitive disabilities, motor disabilities and speech disabilities. Ford isn’t able to sit or walk yet and he’s non-verbal. It creates a lot of difficulty in getting around and doing daily tasks. Random things also affected include his vision and a sensitivity to the sun. Most of the children diagnosed are really young, so we don’t have a lot of knowledge about what can happen later. CTNNB1 was found in 2012 and there are fewer than 200 people with the diagnosis so there’s a ton we don’t know yet. We’re growing a lot with the access to genetic testing, so hopefully we can keep learning more and connect it to similar diagnoses.
Are there adults with this mutation?
There are about three people older than 18. Yes, there are probably hundreds throughout the world who have never been diagnosed or who have been mis-diagnosed with Cerebral Palsy. If someone were tested before 2012, they wouldn’t have been tested and wouldn’t have been diagnosed. That’s the case for a lot of rare diseases where the science, innovation and genetic testing is coming out so fast that anything prior to that, a person would never know unless they were re-tested.
Were there any challenges or difficulties that you had accessing the genetic testing you needed?
At the time, I didn’t know what genetic testing was or that we needed it. We got referred to a geneticist by our pediatrician. She thought she knew what Ford had, but she wanted him to get a full exome sequence because she was positive that something genetic was underlying for Ford. I’m thankful that she took the initiative to do that so early on because I see so many families who’s doctor has never even brought it up and they learn years later from other parents to ask for it.
Discuss what a typical day with Ford looks like.
The first thing we do is give Ford his medications. He takes medicine for dystonia, which is the same medication that someone with Parkinson’s would take. After he has had his medicine, we hug, I open the window and we look outside. I get him dressed and get his food ready. Ford’s muscle tone also prevents him from swallowing well and he’s never been able to really get a meal down without gagging or vomiting. He’s g-tube fed, so I get his food ready, plug it in to his tummy and cross my fingers for about an hour and a half that it doesn’t come back up. Then I spend a few minutes getting his foot braces and shoes on, which are tough to get on.
Is there certain equipment or supplies you’ve had to make work for you?
One of the biggest challenges that I had in the beginning was finding a way for Ford to sit. There are zero things on the market for a child who has low muscle tone that are under $1000. I spent so much money trying to find a way for Ford to sit, to sit safely and in a position for his body to do its jobs- and nothing really worked. This amazing woman named Trish at Kindering made a chair at her house with wood and screws. She made Ford a chair just for his body and we used that for two years until he grew out of it.
Have you found there’s any insurance reimbursement for equipment?
Medical insurance itself is a huge challenge. Eventually I was able to get a feeding activity chair for Ford. It took me about a year to get it and I still use it today. It takes a long time to get things like that approved, so you have to figure something else out in the meantime. You can wait a really long time and go through appeals and denials for a long time. And you have to actually have to know about it. My therapist didn’t recommend it or mention it. I actually saw other people using it before I even knew something like that existed.
What are the technicalities of the g-tube and feeding pump you guys use?
For the first few months, when Ford was very young, he used an ng-tube which went through his nose. His g-tube was placed, which is sewn into his belly and there’s a manually pump that goes with it. Some kids use a pump, some don’t and some the food is administered with a syringe. He receives 100% of his nutrition from the g-tube. It’s simple to use once you have done it a couple times. You measure the food, pour it in the bag, click it into his stomach with an extension that goes from the tube to the bag and you press play. Ford uses an infinity pump which seems like the easiest pump to use from what I’ve seen. It’s still a struggle for myself and Ford’s providers to determine what Ford will tolerate as far as rates and amounts. I think it has to do with Ford’s condition and we haven’t figured out the why or how to master it. He doesn’t gain weight much, he’s been the same weight for the last two years- maybe gained a pound. We’re constantly worried about his nutrition and whether or not he’s getting enough calories.
What do family meals and holidays look like even though Ford’s not eating food at the table?
That’s not as hard as it used to be. We have a chair that Ford sits in at the grandparent’s homes. He sits in his chair and we plug him up to his g-tube at the same time and most times, if not always, Ford gets to have his ipad while we’re at the dinner table and he gets to watch videos. Sometimes he wants a taste of food, which is exciting. Sometimes he actually can participate, but he mainly just wants to be around the family. Everyone is good about making Ford feel like he’s at the table. He joins us, just differently than most kids.
Does Ford utilize an ipad for communication?
We recently got an application called Proloquo2Go to go which we’re all still learning. Ford thinks it’s funny because he can push all the buttons and it speaks back to him. Ford’s means of communication for other people will probably largely be this app. It’s an amazing resource and Ford’s responding to it.
For people who work in healthcare, how can we come alongside you and provide you tangible help and validation?
What would have been really helpful for me in the beginning is a person or packet with every resource I would need- a comprehensive take home packet to know next steps. Having this packet would have been helpful to know where I was supposed to go. In appointment settings in general, the empathy from providers matters. It matters that we feel listened to, that they know the diagnosis and have read the chart before coming into the room, that they think outside the box. Including us in the care plan as a teammate would be awesome, but I know that comes down to how long a doctor has to prepare for a visit. I want doctors to give me hope and encouragement, motivation and I want them to have a positive outlook on their future- just being on my team on a human level and not just my doctor. It would also be helpful if there were better collaboration between providers.
What are things that you appreciate most about the healthcare system?
I’m appreciative for having healthcare. I’m grateful for the nurses involved in healthcare. They’re such a beautiful bridge for patients and families. They’re so helpful, empathetic, a lot of them go out of their way to make sure you know about something or to give you something that you can take home and find useful for your child. I’m grateful for doctors who take the initiative and want to seek out a diagnosis for your child. I’m grateful when doctors and healthcare professionals stop to think about it and they don’t just go through the motions- to look at the big picture. It’s helpful when doctors go beyond the appointment to help.
LINKS AND RESOURCES MENTIONED
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