Lucy was diagnosed with non ketotic Hyperglycinemia a month after she was born. We were told she was only supposed to live a week so take her home and enjoy her. Well. I sure am enjoying her! Everyday Lucy makes me laugh, remember what life’s about, and love so hard my heart might really come out of my chest! Through our NKH journey, we’ve met some incredible people who have given us such a vast amount if support along with our friends and family. We’ve been so blessed by Lucy. She’s more than a fighter. Lucy’s is pure love and the bravest kid I’ll ever know! Feel free to check out Lucy’s Facebook page here.
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Miggy: Kristen, thank you so much for participating in today’s spotlight and for sharing your sweet Lucy with us. Lets start at the beginning. Can you take me back to the day you knew your daughter Lucy was going to have special needs? Was it while pregnant during a routine ultrasound, shortly after birth or sometime after that?
Kristen: We found out that Lucy had Non-Ketotic Hyperglycinemia on May 25, 2013, almost a month after she was born. It was a heart breaking day. A day that forever changed our lives.
Our pregnancy with her was perfect. She wiggled around, I never once felt sick, in fact, everything felt great. Normal ultrasounds, normal heart rate, normal little girl.
Once Lu was born, she never cried. She never fully woke up. Her apgar scores were 8 and 9 and things just turned as the days went by. We were told she was just a “sleepy” baby, and we were sent home. At home, Lucy still never woke up. Never cried. She didn’t even wake up to eat! How many babies actually sleep through the night? So we took her to her pediatrician. Her doctor took a look at her and said that she’s going to call an ambulance and that Lucy needed to go start back to the hospital. Here, Lucy had EVERY test you can imagine, x ray, MRI, blood work, urine cultures, you name it and she did it. And everything came back, normal. No one had an answer for us. She was admitted in the PICU where everyday they did more tests and everyday we had no answers. Eventually we were told to expect the worse. Finally my husband, Justin, saw Lucy have a seizure so they did a 24-hour EEG and finally she had another while wired up. We finally had something! They started her on vitamins and seizure meds and we FINALLY saw Lucy’s big ol’ blue eyes. More importantly, she cried. A week old and we finally heard her beautiful voice. It was beyond incredible. It was 1am and I ran to our nurse and I said, “Do you hear that?! That’s my baby crying!!!” she ran into the room, picked up my husband’s cell phone and hit record. We were then sent home a few days later.
Yet, at home, something still wasn’t right. Lucy was still “off”. Her neurologist called and said her glycine level is very elevated (normal range is 100-400 and Lu’s was 1254). So he sent us off to the University of Michigan where she was finally diagnosed with NKH.
Miggy: Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Kristen: We were told that Lucy wasn’t even supposed to live a week and she more than likely wouldn’t live longer than a year. We immediately lost it. Everything was ripped out from under us. Our world was way past upside down, it was up down left right, you get the picture. Everything we’d prepared for was thrown out, we were started our lives all over again. There isn’t a specific word that describes this feeling. Its beyond unimaginable.
Now though. Now it’s different. Lucy is TWO! TWO TWO TWO and I could just shout it from the roof tops! Take that NKH! That’s how I feel! Haha! Hopeful, determined, and honestly, blessed. Lucy has taught me more than either of my parents, any teacher I’ve had, or life lesson I’ve learned, I’ve learned what LIFE is through Lucy. I’ve learned the happiness doesn’t mean normal or perfect. Of course, I’m still angry that it’s taken a lot away from Lucy. But everyday she smiles. So if she’s smiling, I have to too.
Miggy: Please educate us about NKH and explain what Lucy’s needs are and how they affect your day-to-day life.
Kristen: Non-ketotic Hyperglycinemia is a condition where sufferers cannot make an enzyme that is used to metabolise, ie break down, glycine. It is a genetic condition and a genetic defect will have come from each parent. There are some cases where mutations cannot be found in one or both parents but this is rare. Glycine is an amino acid and is essential for our bodies to grow and develop. By not being able to break down glycine and use it as we should, it causes two main problems. Firstly development, movement, intelligence etc. is severely affected as we need glycine for many things like cognitive function, learning and retaining information. As glycine is a neurotransmitter it is also vital in ensuring messages are transmitted correctly from the brain to other parts of the body. Secondly, because glycine is not broken down and used, toxic levels of it build up in the blood, brain, spinal fluid, organs and tissues. This causes brain damage, seizures which can often be difficult to control, muscle weakness and/or spasticity and a variety of other serious medical issues. There is no cure for NKH but there are treatments.
Therefore, Lucy cannot sit without assistance, stand, crawl, walk, or talk. She eats little by mouth (only pureed foods) otherwise she gets meds and fluids through her g-tube.
Life isn’t easy. She has a nurse that comes once a week. OT and PT twice a week, and “playtime” for her is also a bit of therapy. She uses a stander and AFO braces for help and with learning to stand. Lucy’s seizures are fairly controlled through her medications. She had uncontrollable seizures that put her in the hospital in December but lately (knock on wood) she’s doing wonderfully.
Miggy: All parents worry about our children, but there are usually quite a few extra worries when it comes to our special needs kiddos. What are the biggest worries you face for Lucy?
Kristen: Life as she grows. She’s going to get bigger and heavier and I pray that we have everything she’ll need to stay comfortable. I worry she won’t ever talk or walk, I hope she’ll one day to be able to tell us her wants and needs so we can care better for her.
Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Kristen: I always say ” if she gets up and walks away…video tape it”! or I need a sign that says “don’t feed the baby or give her coloring books” for restaurants when they offer the kiddie stuff. You have to find humor in life, otherwise, where’s the fun? Lucy makes her own jokes too. She’ll do something gross (throw up, fart, pee on her changing table when I’m changing her) and then smile. Actually, her first smile was after she pooped through her diaper, pants, and through my pants.. .and I leaned into her and said “Do you think it’s cool to s**t on mama?” And she smiled. Kids with NKH are told they’ll never smile or laugh. She smiled at 3 months old, which is super exciting.
Miggy: How can people best approach or respond to Lucy? Particularly when other young children come in contact with your Lucy for the first time, what would you like to tell their parents in regards to coaching them through what can sometimes be an awkward or hurtful situation?
Kristen: Kids are great with her. She has 2 cousins and 2 additional buddies that we see very regularly. They treat her no differently. My niece will bring her toys to hold, kiss her all over, hold her hand, sit next to her and ask Lucy if she’s ok…and my niece is only 3. No one treats her differently. Eventually they’ll understand how different she is, but I don’t think their love for her will ever change. With new kids/adults, it’s just a lot of “no thank yous” or “she can’t have that” and then explain why. So far, we’ve been really lucky with our responses to Lucy. I’m sure we’ll have a bridge to cross at some point, and I think i’m always mentally preparing for that.
Miggy: Before I had Lamp I had a lot of preconceived notions about raising a child with special needs, and to be honest most of those notions were negative. Over the past few years I’ve had to confront my own prejudices and of course my views have shifted dramatically. Are there some ideas you had about having a child with special needs that have changed since having Lucy?
Kristen: Of course! Having a special needs kid, I thought, meant you MUST stay home all the time. No sitter, no going out (she’ll catch something), no nothing. Shut ins. That’s it. But what I’ve learned is there’s no holding back. Lucy’s life is going to be short, that’s that. She’s going to experience EVERYTHING so she’s not allowed to just sit back and relax! She’s going to experience life and if she catches a cold while doing it so be it! Justin and I need to get out too. We need our sanity and our relationship. We need each other and bond without Lucy around, just like normal parents.
Miggy: What is the biggest lesson you’ve learned since becoming Lucy’s mom?
Kristen: The biggest thing I’ve learned–Smile. If Lucy can get through what she gets through everyday and still smile, so can I. If I’m struggling, I think “if Lucy can do _____, I can do this.” I’ve watched her fight for her life, do things we were told she’d never do, achieve what’s unachievable, be braver than me or anyone I know, she’s unstoppable. I’ve truly learned how to be happy and how to live life to the fullest. She’s made me into such a better person, she’s made me an incredible mom. She’s exactly who I hope to be one day.
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Oh Kristen, you had me wiping tears away and then laughing out loud–that was amazing! I love that you said you learned what life is through Lucy–it’s not normal or perfect, but if she can smile through every day, so can you.Yes to that! What a wonderful teacher and gift you’ve been given in your sweet Lucy. And TWO–yay for being TWO Lucy! Incredible. I don’t think there is anything more wonderful than a (little) human defying the odds. Take that NKH! Well she is lucky to have you as a mom and clearly you are lucky to have her. Big hugs and kisses to that beautiful, blue eyed girl and thank you so much for sharing your story.
You guys, once again just feeling so grateful to be a part of sharing these stories and these incredible little people with all of you. I learn so much from every spotlight and feel my heart lifted in love. So thank you. And PLEASE if you would like to share and participate in the special needs spotlight please email me! If you know someone who would make a great spotlight, send a link to this lil’ blog and then have them email me! thislittlemiggy at gmail dot com.
What a great article!
I have been blessed to have known Kristen and Justin for a long time. Watching Lucy grow and reach milestones is so uplifting. Lucy is such a fighter and inspirational little girl.
She's absolutely precious!
thank you for sharing your gorgeous girl.