"2:30pm on Thursday, April 16. We waited only 5 minutes for her to come in the room. To tell us again they only tested 71 genes, to tell us Sonya's positive result was on CDKL5. To tell us that with that positive result on this gene and her clinical presentation of seizures, she would most likely have: epileptic encephalopathy early infantile 2, x-linked infantile spasm syndrome, and or Atypical Retts Syndrome.
We asked our questions, I left there with some odd reassurance that just because she had a mutation with her CDKL5 gene did not mean she would have any of the ugly possible disorders assigned to the gene.
Then I went online and typed in those 5 seemingly innocent letters, that in combination are no better off than a death sentence to a parent of a 2 month old baby. And it was at that moment that I realized, sometimes it is better to be blissfully ignorant...sometimes it is better to not have all the answers, to not know the why." - Originally posted on April 19, 2015
4 years have passed since we were given an answer. An answer that over the years has been used and honestly overly abused to explain why she has seizures, why her stomach doesn't work, why she requires feeds directly into her bloodstream, why her eyes make wonky movements, why she has cortical vision impairment, why she does not sit, why she does not talk, why she does not have functional use of her hands, why she has low tone, why she cannot run outside and play with her siblings, why she does not interact with others in a typical fashion, why she has poor bone mineralization, why she is failure to thrive, and why one day I will have to bury my daughter.
I wish the diagnosis had explained why it had to be her, the best way to treat all of the problems it has brought into her life, and at the very least given her a voice to let us know if she agrees with our management decisions, how the medications make her feel, if we truly are giving her a better quality of life, if the procedures have been worth it, and if she wants us to keep doing what we are doing.
I have found myself wondering over these past 4 years, what good has knowing the cause actually done for her? We dove right in thinking knowing when she was 8 weeks old would actually make a difference for her. We clung to the (few) children we saw crawling, walking, and saying words, whose parents said that intensive therapy is what made the difference. I convinced myself that Sonzee was young enough, surely she could beat the odds. Except over these past 4 years, I have learned that no amount of intensive therapies, money, will power or determination can compete with her specific mutation. It's helped our family cope, but it hasn't healed our hearts.
While we have spent 4 years gaining an extended family that stretches around the entire world, we have mourned the loss of TOO MANY siblings. We have spent 4 years knowing that there is no cure, that there is no specific medication or treatment that can replace her mutated CDKL5 gene, that there is no way to stop her intractable epilepsy, and that there is absolutely nothing we can do to ease any of this for her. We have spent 4 years clinging to hope of what I am not even exactly sure, but I suppose hope that all of this will change?
Of all the answers that we were given on April 16, 2015, I wish one of them had been, the results of the infant and child epilepsy panel did not yield any results.