To My Younger Self After My Daughter’s Rare Disease Diagnosis
Well, this isn’t what you were expecting. Your mind is racing, you feel numb and you’re in shock. It’s OK. It’s all OK. Because here’s the thing: You’re going to feel a lot of things over the next few years. New feelings and recurring old feelings. Guilt. Anger. Denial. In fact, you’re feeling a lot of these things right now. And it’s all OK. Feel them. Let them sit in your stomach, breathe them in and accept them because it’s going to be OK. And the more you feel these things now, the sooner you can process it all, and the sooner you can be OK.
Today you learned your daughter — your beautiful, thriving 3-week-old daughter — has a rare disease called familial chylomicronemia syndrome (FCS), which is also known as lipoprotein lipase deficiency.
Her triglycerides are 24,000, and they should be 150. In a few weeks, she’ll develop pancreatitis, a kidney infection and liver infection, and you will spend over a week in the hospital trying to figure it all out.
No one will have answers for you. This journey will be just the beginning. You will cry more tears than you can count and you will be so sad. You will feel guilt for passing on this very rare recessive genetic disease, you feel guilt for not wanting this life, you will feel like you’re rejecting her through your guilt, which will create the greatest guilt. Today is just the beginning of a long, sad, angry and exhausting road. But there’s good news.
You’re going to feel all these feels. You’re going to call doctors you never thought you’d call, you’re going to push until you get answers and you’re going to take care of your little girl. You might think you can’t do this, but you can. And no one can do it better than you. You’re the one meant to love her, to manage her diet, to educate others and to provide for her the best life — the life she deserves.
Right now — recurring pancreatitis, abdominal pain, a 10 grams of fat a day diet — it seems like all too much to manage. Plus, you already have a 3-year-old boy, and in a few years, you’ll add on with another sweet little girl. But you’re going to take it day by day. And some days you’ll be so depressed and so sad and you just won’t want to anymore. And that’s OK. Be sad. Be depressed. Feel it. Because the next day, you’ll be ready to take over again and be the person you need to be. And before you know it, those sad, depressed, “can’t-get-out-of bed” days will be less and less until there aren’t anymore. Your daughter is going to grow and thrive and change the life of everyone she meets.
And you, Melissa, your heart will still break for her. No one will ever know how you worry and how you stress to make sure every holiday and every special celebration are as inclusive of her as it can be. The pain you feel, and the deep desire to trade places and take her faulty gene — replace it with your good one. But you can’t do that so instead you’ll do what mothers’ do. You’ll make up recipes, you’ll educate others, you’ll teach her to advocate for herself and even at 4 years old, she’ll do just that because no one is better at being her mother than you.
Right now, you’re at the start of this journey. Day 1. It won’t ever end, but it will never be worse than it is today. Diagnosis day. So hang in there and cut yourself some slack. Ask for help when you need it and know that she’ll become a vibrant, happy and beautiful little girl, and you will make it through this.
-Melissa Goetz, Co-Founder: The FCS Foundation
You story titled “A Mother’s Story” is MY story too. My son, now 26, was (according to the doctors) the 67th case of FCS diagnosed. He was 2 weeks old. His triglycerides were 27,000. His blood was pink like PeptoBismal, red blood so diluted with white fat that it turned it pink. I was such a young mother and there was no internet to turn to for answers. Or recipes. It was tough.
I was lucky when he was younger. Low fat and fat free foods were all rage in the diet fads. So, there were options that just aren’t produced anymore because the new diet is Keto, high fat low carb.
It’s been a long 26 years and my son’s diet effects him everyday.
I can relate to your son Ronnie, I have Hyperlipidemia Type 5 and struggle to control my diet on the daily basis. I was lucky to have an older sister that has a similar condition and don’t feel completely alone…
Oh, Melissa! Just read your story for the first time. I am flooded with memories of the day I received my daughter’s diagnosis when she was 12 weeks old. Our stories are so similar!! Thanks for sharing. Very well said.