CDKL5

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    Community Voices

    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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    Community Voices

    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.

    Community Voices

    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.

    Randi Zaila

    CDKL5 Genetic Disorder: What I Wish I Knew When My Child Was Diagnosed

    In less than two weeks, we will be celebrating the one-year anniversary of our daughter’s diagnosis day. When she was 8 weeks old, after a month of being officially diagnosed with epilepsy, we learned the cause of her seizures was due to a genetic mutation known as CDKL5 (a rare genetic disorder that results in difficult to control early onset seizures and severe to profound developmental delays). In honor of this day, I would like to share a list of the eight things I wish I knew when my daughter was initially diagnosed with a rare disorder. 1. You will need time to grieve. Grief is not solely reserved for those who have physically buried a child. While you have not lost your child to death, you have lost the “healthy child” you anticipated you would have. It takes time to come fully to terms with your child’s diagnosis. Do not rush the process. Even a year after the diagnosis, there are still days that result in grief. Grief over the past, grief over the present and grief over the future life your child may lead. Grief comes in waves and you should not expect to just “get over it.” It is OK. Allow yourself time to grieve over the expectations you had prior to the “finality” of the diagnosis. 2. Do not be consumed by your grief. While it is more than appropriate to grieve, it is important not to let that grief overshadow the physical presence of your child. You never know how long your child will be here on this earth and you don’t want to waste your precious time with him/her missing out on the joys of parenthood that do exist. Live each day with as close to zero regrets as possible, so if God forbid you have to say goodbye sooner than you anticipated, you will not look back and say, “I wish I…” 3. Having your child receive his/her diagnosis at an early age will not necessarily change the outcome. Randi’s daughter sitting in her car seat. Not everyone is “fortunate” enough to have his or her child diagnosed when he/she is 8 weeks old. We thought for sure that our daughter being the youngest child diagnosed with CDKL5 would mean that she would surpass the other children in the ages she would attain developmental milestones. We thought since we had so many parents giving us advice regarding what they would have done had their child received their diagnosis early, that our daughter would be able to accomplish more and avoid more of the hurdles. In the end, you can be as “prepared” as humanly possible, you can think you can outsmart the disorder, but when your child has a rare disorder, the rare disorder will still run its course. 4. Having a diagnosis will give you closure in one sense, but will also leave you with doubts regarding the future. You will hear many times that “At least you know,” or “You are so lucky your child was diagnosed at such a young age.” This is true on one hand, as you have a support group available, you have a “projected route for your child’s journey”, and now all the symptoms your child displays make sense. On the other hand, you are seeing first-hand the ugly side of the diagnosis. You will witness the struggles that potentially lie in your child’s future. You will see babies and young children die along the way. You are seeing a glimpse into the potential life your child will lead. You can no longer hide yourself from the facts. You are no longer able to be blissfully ignorant. This can leave you feeling sad and defeated. It is OK. Take it all in and know that every child is different. Your child will write his or her own story and follow her own path. Just follow their lead. 5. You are not a failure. There will come times following your child’s diagnosis that you will look at other children and see their accomplishments and feel like it is your fault your child has not accomplished the same milestones. All children develop individually at their own speed and have their own unique strengths. What your child can and cannot do is not a reflection of how much time, energy, effort and love you are pouring into your child. 6. Do not judge the parents who have older children with your child’s diagnosis. When you look at children who are older with the same diagnosis as your child, your thoughts may wander to, “Well, if they knew early on, then they would have been able to do this and that by now.” You may think enrolling your child in every therapy imaginable will make all the difference. Keep in mind that all those children were babies themselves and their parents did what you are doing now, and they will always do right by their child as you will do for yours. Just because you do not see their child meeting milestones does not mean these parents are not working with their child every day. 7. Lean on the parents of other children with your child’s diagnosis for support and guidance. They will be your best tool. If you are as lucky as we have been to have an amazingly active and supportive online community that has children with your child’s diagnosis, become part of it. Immerse yourself, make friends and get to know the other children and parents. They will be there in your time of need. They get it. They will lift you up when you are down, they will sing praises when your child excels. No one knows what you are going through better than fellow parents. No matter what part of the journey each parent is on, each mom and dad will welcome you into their lives as if you are family, because you now are. 8. Trust your parenting gut. You will spend a lot of time in and out of doctors’ offices and hospitals. You will find professionals who have your child’s best interest at heart and others who will not. Regardless, no one is a better judge of what is going on with your child than you! Trust your intuition and trust your knowledge. You know more about your child than any doctor does. Always go with your gut! Follow this journey on Sonya’s Story or on Facebook. The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

    Randi Zaila

    Why I Don't Feel 'Inspirational' as a Special Needs Mom

    When I think about people who embody the definition of the word inspiration, the names of Helen Keller, Ray Charles, Stevie Wonder and others who have overcome substantial obstacles come to mind. I think about those who have made profound contributions to society, such as Bill Gates, Albert Einstein and Steve Jobs. I see the faces of those who have forged through roadblocks and were forced to defend themselves, like Rosa Parks, Mahatma Gandhi and Anne Frank. I think about countless others who put their lives on the line daily protecting our streets, our communities, our countries. I personally do not feel comfortable being placed amongst these prestigious ranks. The people I have mentioned have made a profound impact on billions of people. They have redefined industries and caused ripple effects that have lasted decades beyond their times. They are visionaries. When I think of myself, the word that comes to the forefront of my mind is “ mom. “ Randi smiling and holding her baby. Her baby is wearing a green headband with a purple bow. I am a mom of four beautiful children, three who are typical and one who has CDKL5, a genetic disorder that will leave her with a lifetime battling seizures and profound developmental delays. I will make decisions on all of my children’s behalves until they are old enough to weigh in. I will be an advocate for all of my children no matter their cognitive abilities. I will defend my children in all situations. I will love each of my children unconditionally — not because I am an inspiration, but because I am a mom. I am a mom who makes mistakes daily but tries her best each day. I may have to make decisions you will never have to in your lifetime, but that does not make me any more of an inspiration than you. I am sure you are faced with decisions I am not. Yes, I am a mom who is faced with tough challenges, but I am not alone. There are others on parallel journeys, others on journeys more difficult than mine. I am not special. I am a mom who will go to the ends of the earth, just like you, because that is what a mom does. While I appreciate your kind sentiment and am flattered that you hold me to such high esteem, I would like to ask, “Why am I considered inspirational?” Is it because I have to watch my child endure minutes of daily seizures? Is it because I have not publicly cracked under the pressures of raising a child with special needs? Randi and her daughter outdoors While your words of encouragement, praise and support offer me much-needed support during my darker days, I would like you to know that I am no more an inspiration than you, the mom of one or multiple children; you, the mom of a typical child; you, the mom of a child with special needs; you, the mom of a child who is no longer physically present. It may appear that I’m an inspiration, but I assure you, I am not doing anything differently than you would do if you found yourself in my shoes. I am just a mom. Follow this journey at Sonya’s Story. The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.