According to an encouraging letter she wrote in The FCS Foundation, the day that Melissa learned that her beautiful 3-week-old daughter had a rare disease- familial chylomicronemia syndrome (FCS), or lipoprotein lipase deficiency, was the day that changed her life forever. Melissa felt a mixture of overwhelming emotions that day: anger, disbelief, and guilt, and she allowed herself to feel them all.
On diagnosis day, Melissa learned that her daughter’s triglycerides were 24,000, when they should have been 150. A few weeks later, her daughter would go on to develop pancreatitis, a kidney infection and liver infection that would take a week long hospital visit to get stable.
The next few months and years for Melissa have been challenging and beautiful. Her letter gives hope and words of encouragement to her former self, and any other parent facing the first day of receiving a rare disease diagnosis for their child. Read her full letter here.
There are many important things to remember in the face of a new and scary rare disease diagnosis like familial chylomicronemia syndrome (FCS). These are a few:
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There will be many questions
At the beginning of a new diagnosis journey, there will be many scary times and many tears shed. There will be many unanswered questions at the beginning about your child’s diagnosis. You will also ask yourself many questions. A parent who has passed a rare disease to a child will likely feel guilt and shame. Parents may ask “why me?” Why do I have to go through this?” The day of the diagnosis marks a path of an angry, sad, exhausting, and scary road but…
- You are going to learn just how resilient you are
The parent of a newly diagnosed child will often find themselves calling doctors they never thought they would, pushing harder for the answers they need, and doing whatever it takes to take care of their child. Even when you think you cannot, you can! In fact, there is no one who can do this job or take on this journey more whole-heartedly or successfully than you can. There is no one who loves your child like you do. You are the perfect person to love your child, manager her diet, educate other people about her condition, and set her up with the tools to have the best life possible.
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It [you] gets better
With familial chylomicronemia syndrome (FCS) specifically, this diagnosis may mean recurring pancreatitis, abdominal pain, and a very low fat diet. It can seem overwhelming. If you have other children, your child’s diagnosis will inevitably take time from them. You will have to manage each day as it comes. By taking small steps, you can learn to manage to deal with the sadness and depression. Little by little, you will get stronger to successfully tackle the challenges of the day. Gradually, the roughest days will go away and you will become more adept at taking care of your child and her special circumstances.
No one can ever know how much a parent’s heart aches for his or her child with a rare disease diagnosis. You may wish you could replace her faulty gene with one of your good ones. But that is not possible. What you can do is teach your child to speak up for herself and educate others.
