Reagan has Doose Syndrome. That is what we have learned in June. Doose. A genetic syndrome that only 1-2% of children with Epilepsy have.
Genetic. That was the hardest part for us to initially wrap our heads around. Last year, we had spent a considerable amount of time and effort getting the Epilepsy genetic test done for Reagan. We were thrilled when it came back negative for all known genetic mutations that can cause Epilepsy. We had been in the mindset for almost a year that we were genetically in the clear. As it turns out, we are not. They know Doose is genetic, but they do not have any known genetic markers for it yet.
The way this news was delivered to us was not at all gentle. We had gone in for our Keto follow-up appointment to work out the logistics of going off the diet. While we were there, I made the grave mistake of mentioning that we had met with a well-known Epilepsy hemp oil (or CBD) distributor and had discussed using it for Reagan. I’m not sure if that is what triggered it, or if it would have come out either way, but suddenly the Dietician began filling us in on the fact that we needed to try other medications since her Epileptologists were leaning towards her having Doose Syndrome. As soon as she mentioned that, we were in shock. We had never heard of Doose; it was never even whispered in any of our appointments. We mentioned the fact that we had had a glowing negative genetic test last year, and that there was no way she could have Doose. And then we found out that it didn’t matter in the diagnosis of Doose Syndrome since the genetic markers are not known. She then began to fill us in on all of the potential outcomes for Doose Kids. And she was not delicate.
Needless to say, Blake and I left in complete shock.
I think it was either that afternoon, or the next day, that I climbed into Reagan’s bed to try to work. But really I was barely researching, and mostly crying about another diagnosis.
This happened on Thursday, June 1st. We had to wait until Thursday, June 8th for our appointment with her Epileptologists. I tried calling them on Friday to get some answers, basically just a yes or no that this is what they were thinking. When I received a call back, they told me that since it wasn’t an urgent matter, they would discuss it with us at her appointment next week. All I could think was that you don’t go to the doctor’s office for test results unless they are bad……
We did so much research, potentially too much research, on Doose Kids and developmental delays and regression, on how it can get worse, so much worse, and how very different every Doose Kid is. There was no good answer. No, “you have the diagnosis, now do this, and it is fixed,” answer. Doose Kids are completely normal developmentally, then, within the first few years of life, they have their first seizure and everything changes. Then they have more seizures, sometimes more of the same type and sometimes new types of seizures, all increasing in frequency, and typically not responsive to medication.
After the onset of their first seizure, they start to regress developmentally. Some catch back up when the seizures are under control or gone, and some never do. 1/3 have severe developmental delays, 1/3 have slight developmental delays, and 1/3 have no developmental delays. One statistic that we have heard and hold onto is that 68% of them outgrow it. Can you imagine? All of this and then your child just outgrows it. Spontaneous remission. I can’t imagine anything better, or that I want more, for Reagan in this world.
After speaking with our Epileptoligsts when we finally had our appointment, we learned that while it can be a very hard diagnosis for some, it is more of a spectrum for most kids. Because Reagan only has only seizure type, her myoclonic seizures, she is much lower on the spectrum. Also, because she is still developing completely normally, if not advanced in some areas (Mother bias speaking), she is even lower on that spectrum.
So, now we are on the Doose path. We have joined a study at Children’s Hospital of Colorado that is specifically for Doose Kids and their parents. They are doing genome sequencing on all the kids and their parents to see if they can find concrete genetic markers. The study won’t help Reagan, but we are hopeful that it will someday help other Doose Kids get their diagnosis earlier and hopefully get the seizures under control faster, so they can have a better outcome.
For now, for us and for Reagan, it looks like we are going to start our 4th seizure medication. After combing the internet, there are more studies supporting this medication than CBD. And, with Doose Kids, time is of the essence. The sooner the seizures are under control, the better the kid is in the long run developmentally.
Playing outside, enjoying the sun, putting our worries behind us.
We are 100% behind all three of you. What a challenge for you. But still the bright smiles continue.
And so you continue- one step at a time. The answers will come- or she’ll outgrow this. Reagan could never be diminished – she shines too bright. She is the sun and the moon and the stars! She defies all standards, exceeds all expectations, and continues to become more magnificent in spite of all the “experts” doom news!! Reagan, at her very worst, is still so far above the rest. Personality, with a capital P, gives her that unknown quality that sets her apart. She gets that from you and Blake. Just keep doing what you’re doing, and NEVER give into the fears that swim in the dark places of your heads. Reagan is keeping that darkness at bay with her joy and love for life!!