It is also congenital heart defect awareness month
Feeding tube awareness month
My child is part of all 3.
• 80% of rare diseases are genetic in origin
• 50% of the people affected by rare diseases are children
• 30% of children with rare disease will not live to see their 5th birthday
Naylah rare disease even though is genetic is trisomy 5q - a rare genetic disorder
Trisomy 5q has given Naylah a heart defect , ( mild coarctation of the aorta, open heart surgery to close VSD at 9 months and tachycardia)
A feeding tube due to failure to thrive, poor weight gain, reflux, silent aspiration, coordination issues, ) she has many reasons of why a feeding tube was needed and none was because she was a picky eater.
Often we are asked why her tube is there if she eats some food orally. Truth is if it wasn't for her feeding, she wouldn't be thriving.
Chronic ear infection
Slow growth/ weight gain
Naylah is rare. Her rare journey started when cardiologist thought she had more than heart issues, at about 5 months old she got diagnosed with trisomy 5q.
That day our rare journey began.
That day a uncertain path started for us, fears took over. Fears of the unknown.
It started by therapies and early childhood intervention and countless doctors to see.
Each one of them finding an issue.
Naylah will be four years old in May, she had gone through 11 anesthesia, and 9 surgeries.
I wish I could say we are done, but we are far from it, every new procedure a new finding Is found.
This is rare, this is our lives. If we are not at the doctors, we are in therapy.
We live in a routine, either is for her medicine or feeding schedule through her feeding tube.
She found her comfort in the medical world, when at the doctors office, she will go to her nurses and doctors for a hug or to get entertained by them.
When in the hospital for a procedure, she plays with the nurses and wave happily goodbye before they take her away from us.
This is trust. This is her knowing we are always doing what's best for her.
It's Also my own comfort as her mother that she is not going in for a procedure in fears.
I have gotten the privilege to hold her twice, while falling asleep for anesthesia and my heart broke into pieces while holding that small human being grasping for air, looking me straight in the eye, while having to smile and sing to her until she fell asleep.
I have held her hands in a hospital bed while I couldn't hold her in my arms. I have waited for hours while they did a heart cauterization in a waiting room, or while operating in such a small little heart or placing her feeding in or all the others surgery she has gone through.
I have seen her heart beat at 250 and still see her happy clapping her hands leaving her doctors team mouth wide open.
Her little body is marked by surgery scars as I lift her shirt up, and I am reminded daily of what she has gone through at such a young age.
I have heard she will not be able to walk, talk or do much by many specialists and today she is defying the odds of the she will not do so by doing exactly the opposite.
We are still waiting for that voice but we are also communicating through a communication device, trying signs and doing anything we can as a parent for her to communicate.
I have stayed up for hours searching what else I can do and get ahead from her doctors so I could be the best advocate for my daughter. We have reached a point where our doctors listen to my concerns instead of by going by the book. Even tho there is no book to go by for a rare disorder. Doctors are as new in that subject as we are.
I have cried in silence for hours wondering why I couldn't find a similar case as hers and be able to know what is ahead for her, for us.
I have cried in fears of what tomorrow would be like and how her life growing up would be.
I have tried for hours to find another child with the same diagnosis and know That we are not alone. I still type trisomy 5q on the internet to see if anyone else is looking for a child like mine so we can share our fears , our stories, and what our tomorrow might look like. All I see, all I find is our story, our journey.
Our journey is also written for the next parent who will have a child with the same diagnosis and perhaps will feel less at lost like we once did.
It's good to know that you are not alone, that there is someone out there that knows exactly what you are going through.
We have that with our rare family community, different stories, different paths, some have no diagnosis at all and still trying to find what makes them so rare. But we share something in common, someone rare, and each one of us, are trying to raise awareness for our children. For their stories to be heard.
I have received countless emails from parents that has just found a diagnosis for their children and finding comfort in Naylahs website. Parents that felt lost just like we did even by the diagnosis being different.
Parents that have shared their fears with me and their moments of joy.
Parents that thought they couldn't do it.
I had gone through that. You don't know the love you have for your child, and what you can do for them until it happens to you.
You see the world differently , you want people to know the differences and you want them to accept it.
I have became my child advocate, her voice. I fight for therapies hours with insurance, getting referrals for new specialists, with our medical company to get the right supply.
Our home has been invaded by strangers, 'strangers' that now love my little one, and want what's best for her. Between our home nurses and therapists that stop by on weekly basis.
That is what rare looks like.
Rare is not knowing tomorrow .
Is fighting for your child's right.
Is often feeling alone.
Is crying in silent because you fear no one will get your pain because they haven't walked that path.
Is also crying of joy on your child's accomplishment and seeing that she is doing the opposite of what she was told on will not to she will.
Is feeling exhausted because sometimes you wonder what else you can do and feel like you have no more energy left behind.
Is spending most of your time in the medical world.
Is trying to find a balance for your child to experiment as much as a normal life that you can offer to her.
Is knowing exactly the meaning of loving unconditionally. Oh the love, oh the strength that unconditional word gives you.
Is knowing that your child is happy, and knowing you are doing the best for her. Is the rewarding cuddles and kisses and the trust she has in me/ in us.
You go beyond your limit, you do all you can for that human being.
So for rare disease day. I'd like for you to know a bit of my daughters journey. It's rare and it's our story.