"I have Fidelity's test results back, do you have time to talk at length or do you want to call me back?" Erin, from the Genetics department asks me on Monday morning.
"Now is fine, just give me 30 seconds to pass off the task I'm doing," I tell her, as I look for Gabby to finish up the pancakes. We take Mondays as our day of rest since we work on Sundays, so we were planning on an easy, family fun day.
Honestly, I should have known what Erin was going to tell me, but I wasn't expecting it. I remembered our last conversation in the NICU. She started off by saying, "I know that you have been looking up the test that we are running. It can be very scary to google, so I am happy to answer any questions that you may have. I want you to know that we fully expect it to come back negative. I'm actually here today to talk to you about the next test that we want to run after that, because you will have some choices and I want to make sure that you understand all of your options."
We had cut that conversation short, so when she asked if I could "talk at length" I thought maybe she wanted to discuss our options for Xome sequencing. Michael met me upstairs and we put Erin on speakerphone, "Oh good, Michael is there too." She said, "I'm calling to tell you that we did not get the results that we were expecting. Fidelity's test for Prader-Willi Syndrome was positive."
Prader-Willi Syndrome. The disease that is rare, and scary to google. That is what Fidelity has. It is a genetic condition where a 15th Chromosome is not expressed. Most of the cases are because that chromosome is missing altogether, 70% of Prayer-Willi patients fall in to that category. They tested Fidelity for missing chromosomes in the micro-array test, so we knew she did not fall into that category. That is why they expected this test to be negative, but Fidelity falls into the other form.
So, why is is scary to google?
Basically, the diagnosis and treatment has come a long way in the past 15 years. When you google Prader-Willi there are a lot of worst-case scenario descriptions and videos of children and adults in other countries where the treatments that we use in the United States are not available.
So what is it really?
As an infant, Prader-Willi Syndrome causes low muscle tone and problems with feeding. This is the extent of it for the first 2 years. That is what we have already been dealing with.
As an adult, Prader-Willi Syndrome characteristics include:
- Low Muscle Tone
- Low Metabolism
- Short Stature
- Insatiable Hunger
This is the dangerous combination and the biggest cross. Somewhere around the age of 2-3 years old, it is like a switch flips. Instead of poor feeding, they overeat. Their brain does not trigger the "satisfied" feeling, so they crave food. Low tone means that exercise is harder. Short stature and low metabolism means they need less calories to begin with. Undiagnosed Prader-Willi is a quick path to severe obesity and all the hazards that go along with that.
In the United States, they are seeing great success with using Human Growth Hormone to combat the short stature. It also seems to improve the low muscle tone. They have not been able to remedy the hunger, but the eating is controlled with a strict routine and diet - basically sheer will-power. Prader-Willi kids only need about 2/3 the calories compared to others, so this can be a real struggle. "Food Security" is the new buzz-word. It involves knowing that there will be food always there when it is a designated time and knowing that the temptation is removed when it is not the designated time. Most Prader-Willi families lock the food pantry.
Other symptoms of Prader-Willi are some things that you may recognize form other genetic diseases:
- Learning Disabilities (average IQ 70)
- Compulsive Tendancies (collections, needing a schedule, etc.)
- Slow to decipher social cues (repeated conversations, standing too close, etc.)
One of the researchers at the Cardinal Glennon Prader-Willi clinic stated that most Prader-Willi kids will fall on the Autism spectrum. Surprisingly, this is not on the heavily featured in a lot of the literature, but it seems to be without exception and a significant symptom. Some people even say that this is harder to manage than the food.
So, How do you feel about this?
Well, it's not best case scenario. I was really hoping that Fidelity would need some physical therapy, but would hit all of her milestones. That being said, it's not worst case scenario either. If her low muscle tone never improved, we cold have been looking at not hitting milestones at all - needing positioning seats or wheelchairs or something like that.
I think that this is a disease where it is absolutely helpful to know what we are dealing with early. I feel lucky to have a diagnosis this early. Starting the growth hormone and establishing good eating habits is key to successful management of the disease.
I think of it like having 7 kids. It is overwhelming to think about when you sit down and concentrate on all it involves. BUT - the truth of the matter is that you do not get all 7 kids thrown upon you at once. You get them one at a time. With each addition, you learn new skills, establish new habit, make a new "normal". Then you are ready to take on more.
For the next 2 years, Fidelity should be similar to how she is now. We have already adapted to that with some physical therapy and the feeding tube. We'll deal with the next step when it gets here. So, day by day. Until then this is our new normal.
I think Fidelity hit the Jackpot when it comes to cool families to join.