When we received Madelyn's diagnosis just over 2 years ago, we were devastated. After becoming more connected in online support/education groups for other parents of atypical children, I quickly realized that we were very lucky to have a diagnosis, especially at just 4 months old. I saw people seeking out test after test for answers and guidance with little to no results. I saw people who had gone years without an answer, but who kept fighting and eventually got one. And then there we were who, only by God's grace and the recommendation of an educated doctor, followed through with genetic testing and got an answer after 6-8 weeks of waiting. A small time frame compared to the alternative. In fact, the attending doctor during the admission where we learned about her diagnosis stated that he wouldn't have even considered genetic testing given Madelyn's age and presentation and praised the doctor who did. I am grateful for that doctor and consider us very lucky. That same day....that awful, horrible, no good, very bad day, I was told that she had a genetic condition that was associated with "not good things." Brian and I later sat down with the doctors who shared information about her diagnosis. The information shared...well it was print offs from the CDKL5 website. The doctors couldn't really answer our questions. They told us it was very rare and that she was 1 of about 500 WORLDWIDE with this condition. And that not much was known about it. The doctor who was wise enough to consider genetic testing then told us to treat her like our baby, just like we always had. To love her and cuddle her and to do the best we could for her always. And basically, that was it. We were sent off with very little information and a significant amount of fear about what Madelyn's life and our family life would be look like. During the days ahead, we would grieve the child that we had thought we were going to have. Something I still do. But in the midst of this, we had to find time to research and learn from other families and from Maddie and learn to trust our gut. We interacted with providers who have never heard of her diagnosis and who admitted that we as parents would need to be the experts. Let me tell you, that's not the most encouraging thing to hear as a parent. We did our best to learn as much as we could as quickly as possible and tried to find providers that had some experience with working with complex kiddos. This is an ongoing process for us. Even if a provider has some experience with her disorder or with complex kiddos it doesn't mean that they know what is best for Maddie. Let me tell you why. Rare disease is terrifying. Imagine going to the doctor and being told you have a problem, it will cause lots of problems, and there is little to no information about it. Imagine being told that your child likely won't develop much at all and trying to not be completely discouraged. Imagine feeling the hope of having a diagnosis and the indescribable let down that there is no treatment or cure because doctors don't even know about it. Imagine being told that the outlook is unknown, that the life expectancy is unknown, and that every single thing is a trial. I struggle to think about the way doctors present tough diagnoses, mostly because I didn't have a positive experience with this. I truly believe that a doctor has the power to potentially make or break a parent's hope and a child's growth potential. We give doctors a lot of power and yet unfortunately sometimes that's not the best thing. I imagine doctors feel pressure to be the expert and provide a satisfactory answer and sometimes that is detrimental especially when it strips the hope from parents. Children need to grow in an environment that supports growth. The words of a doctor in the case of rare, even the most well-intentioned, can cause a parent to believe their child is not able or that they will be wasting their time or that they are being resistant to acceptance. Parents can feel inferior, discouraged, tired, and disempowered. When the reality is: rare means anything is possible. And when anything is possible, HOPE is alive! No matter what anyone says. What we have learned is that Maddie is writing her own story. I do my best to take in as much information as I can from other families, but that's what I do, I take it in. I don't necessarily believe their experiences to be truth for my daughter. Mainly because what I have noticed is that every child is different. Some medicines work for some families and some are nightmares for others. If I decided against a medicine based only on the fact that it didn't work for some families, I might be missing one that works really well for Maddie. Having a diagnosis of any kind gives the doctors at least a little information to try to make better recommendations. For example, certain seizures meds would be a waste of time for Madelyn based on her diagnosis, however without the diagnosis, they would be appropriate starting points though ultimately a waste of precious time in a critical developmental period. But rare means that we trust the process, take a wait and see approach for treatments and reevaluate regularly. And rare also means significant fear all the time with each trial and error. Luckily, a diagnosis provides SOME guidance. Unfortunately, even though we have a diagnosis, we don't have answers and we live in the unknown much of the time. I trust that she's doing well today, but that can turn very quickly at any moment especially since we have a very poor understanding of why the complications occur or when the risks are higher. So, because rare is rare, I do my best to "trust" the doctors and yet Iive knowing that they do not know and are making the best guess they can for what is best. And unfortunately for us, that's better than nothing. Sure, nothing is guaranteed with any disease, but mostly there is some good evidence for much of the guidance we receive for disorders that are not rare. So, tomorrow is rare disease day. Why do I care about rare? Because I love Madelyn. I love her spirit, energy, beauty and joy. I love how she has already progressed beyond what we were told was possible and I love that she is writing her own story in this life. Who knows how long her story is or how the story will unfold, but one thing I know for sure is that her story certainly is unique and rare. And that with rare, anything is possible. I care about rare because all people deserve answers and guidance in their treatment, especially when paying so much money for an expert opinion. I care about rare because I desperately want Madelyn and others with her diagnosis to not have to suffer any longer than they already have. Caring about rare means increasing awareness and education so that when we go to the doctor they can at least know what her diagnosis is and means. Caring about rare means that doctors are studying the disorder enough to have some good recommendations. Why do you care about rare? Is is because someone is waiting for a diagnosis out there? And without a diagnosis, they may never get the intervention that is necessary for the most effective outcome? Is it because it could be your child one day that has a rare disease? Or is it because you know the struggle personally? No matter why, please keep talking about rare until it is rare no longer. And take care to never strip someone from their hope. Because with rare, hope is everything and anything is possible. Will you move mountains with Madelyn and change your profile pic, educate yourself and others, talk about rare disease, wear blue jeans for rare disease day and keep encouraging her? She's waiting....
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AuthorHi, I'm Kristen! I'm a mother of a beautiful, but rare little girl and the wife of my best friend. I have decided to share my experiences on this journey in hopes to help others understand or help others in similar situations. :) Archives
October 2017
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