CDKL5

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    I knew

    I knew the day would come.  I thought about it numerous times during her first year of life.  I wondered when exactly the moment would happen, how it would occur, the situation I would find myself in.  I never had a clear image of what exactly would transpire, but I knew after so many encounters that one-day things would be vastly different. I knew there would come a day when the small talk surrounding a run in encounter with a “baby” in a stroller would yield a different response than “how cute”, “oh, is she 1?”, “what’s her name?”, “she is so pretty”, “what pretty eyes”, and/or some other similar but positive and smile exchanging encounter.  I wondered at what point it would occur, always fearful of the day it would happen, but then of course forgetting about the potential on the day that it did.

    After all the years of hesitant exchanges standing next to her stroller, eager to just smile along and chuckle at whatever praising remark was made, the one time that I forgot it could occur, is of course when it did.  I knew she wouldn’t be a baby forever, I knew she wouldn’t be tiny forever, G-d knows she has enough tubes and medical interventions erasing the Failure to Thrive diagnosis as we speak.  I was never naive enough to think that she would always get positive head turns, but in the end, maybe I was.  I knew once she was bigger she would get noticed for her hand stereotypies and her abnormal flexibility.  I knew people would start to realize she wasn’t a baby, but in the majority of ways, she really still is, and ironically the phrase “look at the pretty baby” that used to make me grit my teeth because she wasn’t a baby, I wish would return.

    I knew her growing up would eventually happen, but I didn’t expect for the day to occur while walking down 68th Street in New York City.  I knew one day someone would act in a way that hurt me to my core, but I didn’t expect it to be a man walking a cute Yorkie named PJ, who (I can only assume) had zero intention to break a mother’s heart while he was out walking his friendly dog.  I knew one day it would be completely obvious that the little girl in the stroller with splatter colored framed glasses and a customized pacifier clip was not actually a baby, but I didn’t expect the silence after responding to the question about her age to be so deafening and feel like an eternity was passing by.  I knew one day there would be no words to fill the awkwardness that filled the air.  Yet the thing about preparing for the future with a diagnosis like CDKL5 is that there really is no way you can, because no matter how many dress rehearsals you have; when the curtains lift and you find yourself center stage, it is never exactly how you anticipated it to occur.

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    It’s Almost Time

    It’s almost that time. The time I have been anticipating, and dreading, since Bennett’s diagnosis of CDKL5 Deficiency Disorder. The time when strangers will know instantly that he’s disabled. The time when the stares, comments, and judgements will start.

    Up until now, Bennett is “just an adorable, sleepy baby” to the average person he meets. We get “Oh, isn’t he adorable!” comments from passerby mixed with big, smitten smiles. I’ve grown away from my feelings of insecurity and scrutiny when he was an infant and now we merrily go about our day, not giving a care in the world what other people may think or say.

    It’s almost that time to get a wheelchair. I knew it was coming. His therapist has been mentioning it for months. Every time I thought about it, I would feel a mixture of excitement for my baby boy to have the support he needs, and a feeling of pure devastation that this is WHAT HE NEEDS. I have a child with a lifelong, severe #Disability. He is most likely to never walk, talk, or feed himself. He also has daily seizures that seem to be getting worse as he gets older. At 2 ½, most parents are contemplating which preschool to send their children, not which wheelchair to buy them. I feel like I want to keep him in his little stroller, his legs hanging out, his head reaching over the top of the lining, until he can’t fit anymore. I want him to continue to look like a cute, sleepy toddler to the average person, not a disabled toddler who keeps his eyes closed because of his #Blindness.

    It’s almost that time. Do we just get an adaptive stroller and put off the inevitable wheelchair, or do we dive right in and get the wheelchair van so we don’t have to do it a couple of years from now, anyways? I want to do what’s healthiest for Bennett, his father and I, and his caretakers. I’m beginning to think that the best choice is sitting right there in a lump on my heart. I think that it’s time.

    Post

    Thoughts from a medically complex mom

    I get it, trust me I do.  I get it more than a large majority of the average population and I get it on a very specific level.  Doctors are not always right.  I would say without having taken exact statistics over the past 3 years 11.5 months that being right sits around 50% for medical professionals when it comes to Sonzee.  Ironically in a lot of our personal dealings, it is usually them who are presenting the more optimistic route and sharing the more “typical”.

    Since day one I was the one fighting for them to look deeper into my “mom’s intuition”.  It was me who was begging to be heard that “something wasn’t right”.  I had to fight so many times until she was 4 weeks old and had video EEG proof that my baby was not part of the “babies do weird things” movement.  The journey has been exhausting from the very beginning.

    We did every possible typical testing that was provided to a pregnant woman while I was pregnant.  My husband and I had done genetic testing ourselves prior to having children when we were having difficulty conceiving in the first place.  My motto the entire time was always “I would never do anything, but I NEED to know”.  My husband’s motto was, “Since we aren’t doing anything, what is the point?”

    When it comes to my pregnancy with my medically complex daughter, I have reviewed the memories with a fine tooth comb.  “You have a perfectly healthy baby” the NICU team even told me during her last two days before she was discharged home.  I asked multiple times about the questionable eye movements and her shaking limbs.  I mentioned it again at her well visit appointments when she was 12 days old and again around 3 weeks.  It was during week 4-5 that we learned she was having seizures.  It was during week 8 that we learned she was diagnosed with CDKL5.  It has been 3 years 11 months and 18 days since we have been living with the life of a child diagnosed with CDKL5.

    Sure there are inchstones.  YES, we make the best lemonade there is to offer.   Are there amazing teachable moments that our family has experienced?  100%.  Will my children grow up “more compassionate, more loving, more understanding?”  Sure, and maybe it will have been because of our medically complex daughter, but maybe it would have happened regardless?  We are part of an elite club, one that we are so thankful there actually is, but one I personally wish I never knew even existed.  I wish my other children would not have to know the harsh realities of what life with a medically complex and disabled child really means.  I wish they did not have to know what it is like to see their parents come and go in the middle of the night with babysitters, neighbors, or family members running over at all hours of the night while their parents and sister leave for the hospital.  I wish my children didn’t have to see flashing lights outside their house or be comforted by the amazing team as their sister was being loaded into the back of an ambulance.  I wish my children didn’t have strangers come into their home every day who they know by “nurse xyz” and who they are used to seeing.  I wish I lived more nights at home than I have at 1919 E Thomas Road on the 8th floor.

    We never knew while I was pregnant what was or would mean.  We could never have fathomed what life would have looked like.  Even if a doctor had told us that string of characters and we would have googled we probably would have relied on the extremely rare minority of children who are physically much more able than our medically complex daughter.  Maybe we would have prayed and felt that G-d was giving us what we could handle.  Maybe we would have felt hope that the test was wrong and that the doctors did not know what they were talking about.  Maybe we would have decided to live the same life we currently are.

    The unknown becoming your reality taints your world.  There is only so much heartache you can ask yourself to take when it comes to literally watching your child suffer.  I can rationalize her smirks and occasional happier demeanor to meaning her life is content, and that she “doesn’t know any differently”.  The reality is she seizes multiple times a day, for minutes on ends, every single day of her life.  The reality is she is unable to hold her head up well, to sit unassisted, to walk, to see clearly.  She is unable to take care of herself by herself and no matter what potential genetic modifier comes her way, she most likely never will.  She will never be able to use her voice or really explain to me what is hurting her or how she is feeling.  She won’t ever go on a date, get married and have children.  She will never be a typical and functioning member of society.

    When we are faced with difficult decisions, I asked both of us one question, “Do you want to live the life she is living?”

    I know there are stories of children thriving after a doctor told their parents they never would, but there are also children who are not.  There are parents who were faced with a horrible situation and they made a choice to say “yes, I want to live the life no matter how difficult it may be”.  Then there are parents who made the choice not to live that life.  To those parents, I do not judge you.   No one should be judging you.  Your decision to take the baby you longed for and choose not to let suffer should not be looked down upon.  To the parents who didn’t get offered a choice and are not living up to the challenges presented and maybe they are living up to them but feel they can’t do this, or do not want to do this, I assure you, you aren’t alone, and you should not be being judged.

    Before we had our medically complex daughter I would personally not have had an abortion, but I never judged anyone who would.  After having her, with both the pregnancies that followed, I needed to know if the baby would have or any similar disorder.  I didn’t know in certain terms what we would do if the testing revealed he/she did have the diagnosis.  What I did know is that after raising our medically complex daughter, and watching her have to endure what she does on a daily basis, I would find it selfish for me to allow that life for another child.

    Medical professionals are not perfect, they are mom’s and dad’s, they are just ordinary people who wake up every day and go to work and do the best they can.  They are presenting the facts the best that they know how with the information they have at that moment in their hands.  You have a right to disagree with them, you also have a right to agree, and no one should tell you which answer is right for you.  Maybe you could call me weak, awful, or non-inspirational from this point forward, but really there is no room for judgment even if you live this life, even if you made a choice one way or another.

    I love my medically complex daughter with my entire being, as much as I do my other children, as much as any mother can love a child, but I would never wish her another moment of pain or potential suffering and I would never wish the life of having a mutation on another child.