Living with a rare disorder can be a challenging experience, but for our family, we have discovered that it is vitally important to maintain a positive outlook. Easier said than done, but this mindset will help you navigate any difficult situation with at least a smidge more clarity.
Our story has an origin we aren't quite ready to dive into, but I will tell you that our perfectly healthy, beautiful baby girl began showing symptoms about a month after her arrival. At two months old I knew something was very wrong. At 6 months, she stopped growing. At 11 months, and weighing only 13lbs, our baby was diagnosed with Glycogen Storage Disease Type 1a (GSD 1a). This is a metabolic disorder that affects the body's ability to store and release glycogen properly.
I will never forget getting on the elevator at Nationwide Children's Hospital in Columbus, Ohio, hitting "4", only to be seriously disturbed by the man riding beside me.
"Nothing good comes from 4." He said in a depressed tone. His eyes had lost all hope and his body language was completely checked out. He seemed void of life itself.
"I rebuke that." I retorted. It wasn't the last time I was going to use that statement in the face of disease. God's will will be done here, and floor 4, the genetics floor, might suck, but I'm here for answers, not a dead end. There is ALWAYS HOPE IN THE DARK. Always. Sometimes you can't see it, but it's there.
Navigating the stroller off the elevator and down the hall, I embarked on a journey I couldn't have ever imagined. But here we are. I'll continue the personal side of this story at another time, but I wanted to offer some perspective through a parent's eyes as we explore the world of Glycogen Storage Disease Type 1a.
I will offer a bird's eye view in this post, because, like many disorders, there are nuances, and every person is different from another. So what I share here is the general consensus, coupled with a bit of our personal experience. If you or someone you know is living with GSD1a, it is my goal that this offers you insight, encouragement and perhaps what you need most, just a realization that you are not alone.
Understanding Glycogen Storage Disease Type 1a:j
I will begin by saying there is a very positive side to GSD1a, so while it may present unique obstacles, there are treatment options available and ways to lead a fulfilling life. Let's explore what GSD 1a is, its impact on daily life, treatment options, and the potential for healing. Ready? Here we go...
The super boring (but helpful) textbook definition: GSD1a is a rare genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase (G6Pase). This enzyme plays a crucial role in the liver and kidneys, allowing the body to regulate blood sugar levels and store glucose as glycogen for future energy needs. In individuals with GSD1a, the lack of G6Pase leads to the abnormal accumulation of glycogen in various organs and tissues, causing a range of symptoms.
Living with GSD 1a:
The symptoms and severity of GSD1a can vary from person to person. Common symptoms include hypoglycemia (low blood sugar), growth delays, an enlarged liver, kidney problems, lactic acidosis, and high blood lipids. These challenges may require careful monitoring of blood sugar levels, dietary restrictions, and regular medical check-ups. Again with the textbook definitions, my apologies if this is a snooze fest, but I am an artist and a homeschool mother, not a physician and I do not want to misspeak in this area. Bear with me!
While living with GSD1a may require additional attention and care, it is important to note that many individuals lead fulfilling lives. With proper management and support from healthcare professionals, individuals with GSD1a can pursue their passions, build meaningful relationships, and achieve their goals. Like anyone else with a disability, life just might look a little different. In our case I can attest to all of this. CONSTANT glucose monitoring and managing a feeding schedule! Some individuals will opt for a continuous glucose monitor, like a Dexcom, while others will stick with a handheld glucometer (we are the later as of this moment but have a dexcom we would like to put into action soon.)
Treatment and Management Options:
So....what do you do next? Is life always going to be like this? The management of GSD1a typically involves a multidisciplinary approach, including diet modifications, medication, and regular monitoring. Here are some key aspects of treatment:
1. Dietary Modifications: A carefully balanced diet plays a crucial role in managing GSD 1a. It often involves frequent meals rich in complex carbohydrates, avoiding foods high in simple sugars, and consuming uncooked cornstarch at regular intervals to provide a sustained release of glucose.
*Sidenote: The cornstarch. This is how we handle things in the United States. I know other countries may have different options.
2. Medications: Specific medications, such as cornstarch or cornstarch-based formulas, can help stabilize blood sugar levels and provide a slow-release source of glucose. Additional supplements may be prescribed to address specific nutritional needs.
3. Regular Monitoring: Close monitoring of blood sugar levels, liver function, and kidney function is essential. Regular visits to healthcare professionals, including metabolic specialists, dietitians, and genetic counselors, can provide necessary guidance and support.
Hope for the Future:
Research in the field of metabolic disorders is advancing, offering hope for potential breakthroughs in the treatment of GSD 1a. Yay! Scientists are exploring gene therapy, enzyme replacement therapy, and other innovative approaches that may hold promise for a cure or substantial symptom improvement in the future. Personal I have spoken with 2 individuals who have received liver transplants successfully. With any option so far, there is ongoing medication and continuous follow up to ensure the health of the individual and success of the procedure of course. Lots to consider thoughtfully with any route you take!
*Currently UConn Medical in Connecticut is working on gene therapy specific to GSD1a.
This concludes my brief synopsis of GSD1a for now! I hope you have found it informative and personal as it's coming from my perspective. As a mother of a little girl diagnosed with GSD1a, I have been walking this road for 6 years. The glucose checks, cornstarch regimen and in our case, feeding tube administration every few hours like clockwork, 24/7, is overwhelming at first, but like anything, it gets easier with time. Remember, a supportive community, including family, friends, and healthcare professionals, can make a significant difference in navigating this rare disorder. You can do it!
Kinnen was diagnosed with Glycogen Storage Disease Type 1a (GSD Type 1A) at just one year old. She spent her first birthday at Nationwide Children’s Hospital in Columbus, Ohio, recovering on the Genetics floor. Despite the challenges she faced, we were grateful for her presence and looked forward to bringing her home.
Twenty days before her first birthday, we rushed Kinnen to the ER due to persistent vomiting and breathing difficulties. In the PICU, it was discovered that she had a severe case of rhinovirus. However, we knew there was more to her condition.
Between the ages of 2 and 6 months, Kinnen experienced intense seizures following routine check-ups. She was always upset, excessively tired, and stopped growing at 6 months old. Despite visiting various doctors, her symptoms didn't align with her ultimate diagnosis, leading to missed answers. Nevertheless, we all persisted quietly while doing our best to live life as normally as possible.
Our time in the PICU turned out to be a blessing in disguise as it revealed the root cause of her symptoms. Kinnen was diagnosed with GSD1a, a rare genetic disorder that affects the liver. Her enlarged tummy was due to her liver storing glucose it couldn't process, leading to a lack of energy for her cells to function properly. We were overwhelmed by the love and care provided by the hospital staff and our support network, allowing us to gather the necessary tools for her recovery.
At the age of 4, another challenge arose when Kinnen was diagnosed with Autism. Although receiving a diagnosis can be emotionally challenging, we found solace in having the information and tools needed to help her move forward and heal.
Today, Kinnen primarily receives nutrition through a g-tube, and her glucose levels are closely monitored to prevent hypoglycemia. Despite the rollercoaster journey, we believe that adversity always carries a seed of equal or greater benefit for those who embrace it. This belief led us to start Heartwork.
We began framing and hanging Kinnen's paintings as heart-shaped pieces in our home. As others expressed interest in these unique creations, we realized we had something special.
Heartwork provides financial relief from medical debt and supports ongoing supplies, therapies, and services. Moreover, it serves as an avenue for Kinnen to learn about entrepreneurship. Her passion for drawing and painting comes as no surprise, given her family's artistic background. However, Kinnen is never pressured to create, and sometimes special requests may take months to fulfill, as we respect her creative process and appreciate everyone's patience.
While Kinnen's parents, Blake and Chelsea, occasionally provide guidance on color theory and composition, she is learning valuable skills through this process. Art therapy plays a significant role in her development, as she becomes immersed in her creative world.
People often have questions about Kinnen. Aside from her medical journey, she is a sweet child with unwavering love and loyalty towards her family, particularly her little brother, Wesley. She finds joy in nature and can entertain herself for hours with a simple feather. Adventure and exploration drive her, and she possesses an incredible memory and impersonation skills. Kinnen is a truly remarkable child.
Regarding her medical needs, Kinnen can eat, but she relies on a g-tube for multiple feedings throughout the day and night. Her formula, Nourish, is an organic whole food blend made in Ohio by Functional Formularies. This has been the best medicine for her, considering her food sensitivities. She enjoys pizza, her mom's homemade sourdough, chips (without seed oils), rice cakes, and Lily's chocolate in moderation to encourage oral eating.
Her glucose levels are checked 4-6 times a day through finger pricks, and maintaining levels above 70 is crucial. Without food or cornstarch every 2-4 hours, she can experience dangerously low blood sugar.
Cornstarch helps stabilize her glucose levels because it's a complex carbohydrate that the body digests slowly, maintaining normal blood sugar levels for an extended period. This prevents hypoglycemia.
Kinnen doesn't require any medications; instead, we supplement her diet with vitamins, real whole food, chiropractic care, and regular visits with her genetics team.
We are a family business consisting of Blake, Chelsea, Kinnen, and Wesley. Each one of us plays a significant role in every aspect of Heartwork. From moral support and laughter provided by Wesley to graphic and packaging design collaboration with Blake, or handling social media, heart cutting, and communication tasks by Chelsea, we all contribute to navigate this journey together.
Thank you for joining us on this remarkable ride!
-Chelsea, Blake, Kinnen & Wesley (and Luna the cat)