My name is Kate, and after a whirlwind romance with my husband Marcus, we soon fell pregnant with our first child. Scarlett is a beautiful little 2-year-old girl, born with a rare genetic disorder. About a year ago Marcus and I set up a Facebook page for her called Scarlett’s Smile because, in spite of her challenges, she is always smiling and living life to the fullest.
Welcome Kate & Scarlett
Natalie: How did your journey begin with Scarlett? What was going on through your mind and heart during this time?
Kate: All our dreams came true when Scarlett was born on the 23rd Sept 2015. She was healthy, with an Apgar score of 9, and although she was born with a cleft palate and club foot, our life was complete. Of course, we put these two birth defects down to coincidence and were just the happiest parents in the world.
It wasn’t until we were at a paediatrician appointment for Scarlett’s reflux, that we heard a word that would soon turn out to completely change our lives forever. Scarlett was a “HYPOTONIC” baby.
What did that mean? What is Hypotonic? Does Scarlett have Hypotonia?
Scarlett was a very floppy baby and looking back, I wonder whether we were just too positive to notice, but in reality, I suppose we didn’t know any different, we never wanted to believe anything was wrong… Scarlett was perfect to us, even if she wasn’t meeting all the usual milestones. Anyways, at four months of age it was difficult to deny that Scarlett, although perfect to us, was different and we had to help her. We pushed to go back to the doctor and started physiotherapy.
Two false diagnosis’, more tests than you could ever imagine, and a year and a half later, we finally got our answer as to what was causing Scarlett’s challenges. It was a very difficult time for Marcus and I, when Scarlett was undiagnosed. There were many tears! We had our hearts broken over and over with bad results, only to be told every time that everything might be okay. There was so much uncertainty and that is a very scary thing.
Eventually I stumbled across ‘Whole Exome Sequencing’ available in America and we finally received confirmation of Scarlett’s rare genetic disorder. As weird as it might seem, when we finally received Scarlett’s diagnosis, all we really felt was relief. I also felt a sense of pride, from all our hard work to find the answer. We already knew Scarlett’s challenges were serious, but it was somewhat good news, her disorder isn’t thought to be neurodegenerative, we have certainty, and have also be able to connect with other families.
Natalie: What is the name of the condition(s) that Scarlett has? Can you share with us a little more about it?
Kate: Scarlett has a severe Neurodevelopmental disorder, caused by an abnormality on her GNB1 gene. Mutations in the GNB1 gene are thought to affect the signaling inside our cells, and this ultimately results in a number challenges. Scarlett has Hypotonia (very low muscle tone), epilepsy, cortical vision impairment, feeding difficulties, sensorineural hearing loss and global development delay. Scarlett is two years old, but unfortunately, she cannot roll, sit, crawl or stand unassisted, and although she has made great progress we are still working on head control.
There are only 31 individuals (including Scarlett) identified with the disorder so far. Thankfully we have been able to connect with many beautiful families from around the world, including a little 2-year-old girl from Spain, who has the exact same strand of the disorder as Scarlett. I knew from the moment I saw this little girl’s picture that she had the same GNB1 mutation as Scarlett, and instantly didn’t feel alone anymore. Unfortunately, Scarlett and her twin seem more physically affected than most with the GNB1 gene disorder, but I’m sure our amazing girls will blow us all away with their progress and pave their own destiny.
Natalie: What are some words to describe Scarlett? What do you love about her?
Kate: Scarlett is the sweetest, most smiley, sassy and strong little girl you will ever meet. I love everything about Scarlett! She is perfect in every single way, and I honestly don’t know how I got so lucky to be her Mum. I wouldn’t change a thing about this journey, because then it wouldn’t be Scarlett. She is easy going, affectionate, sociable and radiates a happiness that others would only dream of. She is my partner in crime and always the life of the party.
“She makes every day fun and always wakes up with a smile on her face.”
Natalie: What are your worries and wishes for Scarlett?
Kate: My only worry for Scarlett is that one day she will not be with us. It is the unimaginable, so I try not to think about it, and just focus on what I can do to keep her body healthy. All I want is for Scarlett to live a happy and healthy (all things considering) life. I want her to know she is loved more than anything on the planet, and that I will be here for her NO MATTER WHAT.
Of course, I wish that one day she could sit up all on her own and play independently, or communicate with us consistently using even just a few words, but really, I have only ever dreamed of a few simpler things. One day I would love to be able to carry Scarlett on my hip, and one day I would like to be able to take her for a bike ride. Anything else is a bonus. But number one I hope she is happy.
Natalie: I’m passionate about the special needs and self-care connection. Raising a child with a medical condition can bring some big challenges, how do you cope? Are there any self-care practices that helped you on your journey? How do you get through the tough days?
Kate: I try to stay active, and have had Scarlett at the gym creche since she was 6 weeks old. It is difficult nowadays with all our appointments, but I still try to go a couple of times a week, and go on walks the other days. I like to do bikram yoga every few weeks (especially after an admission or something traumatic) as I find it really healing and important to have some time on my own where I just focus on myself and my breathing.
On tough days I think of my Mum’s final words and try to remember that I can deal with, or do, anything for my little girl. I ‘pep’ talk myself (to put this in context, this is only when my husband is away and I am on my own with Scarlett ha-ha) by repeating inspirational quotes/messages in my head. I try to focus on the positives and think of Scarlett smiling.
“Even if she is unwell, and I haven’t seen her happy and smiling for a while, I will look back at old photos, remember the good times and KNOW that she ALWAYS comes back to me.”
Natalie: What advice would you give a mum who is beginning her journey after receiving her child’s diagnosis?
Kate: Take your time to grieve, and then realise there are so many beautiful reasons to be happy. Trust your gut and follow your child’s lead. Every child is different, and your relationship will allow you to communicate in a way that transcends words. Try not to be overwhelmed by the whole system and the “to do” list and just know that everything happens for a reason. They picked you for a reason! You are strong, loving, capable, and the best mother you could ever be. I promise it gets easier, just ENJOY!
Natalie: What are some lessons and blessings you have learnt since becoming Scarlett’s mum? How has it changed you as a person?
Kate: Having Scarlett has definitely made me a better person. I have an even greater appreciation for life, and zero tolerance for negativity. This journey has taught me how much I am already blessed with. Unfortunately, I have been through grieve before. I lost my Mother about a year before I fell pregnant with Scarlett. But this is different! And watching my husband experience that pain for the first time was hard. I have learnt how lucky I am for my mental strength and mental health. And for the first time in my life, I can completely understand how people could suffer from mental health issues. How people could be pushed to breaking point! Life is not fair, and bad things happen to good people.
But life is also beautiful! There are SO many beautiful people in the world and you have to focus on that. I have learnt how sensitive and strong my husband is, how strong we are as a couple and supportive we are to each other and Scarlett. Time is precious! I have learnt to cut unnecessary things from my life, not to procrastinate and I am probably a little bit more organised. I have learnt to be more patient, and accepting of people’s differences. I am also able to say harder things and confront conflict better than I could before.
Natalie: Do you have a favourite quote, prayer, or piece of miracle inspiration that you would like to leave us with?
“People will forget what you said, people will forget what you did,but people will never forget how you made them feel” – Maya
If you would like to share your miracle moments and special needs journey, please get in touch here.
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