Please allow us to introduce to you our precious Ansell (Anse, Ansie)! Ansell was born in June 2017 and a week later we received a call from Children’s Hospital explaining her newborn screen had indicated she has a rare genetic disorder called Galactosemia. Before this moment we had never heard the word Galactosemia… and now it has changed our lives forever.
Ansell's life has always been interesting... from a turbulent pregnancy to being born 6 weeks before her due date. Because of her prematurity she was immediately taken to the NICU- and its in the NICU that we watched her life slowly decline.
Although Anse was VERY healthy and strong for a 34 week old baby, every day we watched her get weaker. Each day she was awake less, more jaundice, developing GI tract issues, losing weight, being less responsive. Our seemingly healthy baby girl at birth was becoming not so healthy... and we were naturally worried and frustrated. All we could think of was, how do we get her home?? She was born at 4lbs 15oz, and was losing an ounce or two each day, even though we were feeding her via. tube (Anse pictured at 4lbs with her feeding tube).
Day 7 of her life was a day that changed us all forever. Its the day we first heard the word "Galactosemia". Once we were educated on the diagnosis, we wept. We wept and struggled through the fact that 1. We had been poisoning our daughter by giving her breastmilk, the very food we thought was BEST for her, 2. We didn't realize we were watching her die slowly, and 3. We were able to save her life only because of the Newborn Screening that was run from a simple heel prick the day she was born.
Hearing that my child has this life long disorder that will affect her in ways I have never experienced shattered my heart. My beautiful, perfect baby girl is alive only because we found out about Galactosemia in time to save her life. There are many babies in the world today, and even in our country, that are not as fortunate as we were to find out by day 7. By day 10, major irreparable damage has been done in most Galactosemic babies and by day 14 its usually fatal. Imagine being seven days postpartum hearing this!
Not every family is as fortunate as us- and many families who are affected by Galactosemia have heartbreaking stories of infants with E. coli sepsis, where their child has been so poisoned so quickly (before the screen results come back) that they are non-responsive and potentially fatally ill.
Ansie turned 1 in June 2018, and we are already seeing many affects from her Galactosemia diagnosis. While always taking into account her prematurity, we are watching her development on all fronts very closely. She is currently behind by several months in all categories- motor, fine motor, cognitive, speech, etc. We are intervening through Tennessee Early Invention Services and seeing her make a lot of growth through her physical therapy! We are excited to start feeding therapy and occupational therapy shortly, and are carefully considering our next moves.
The awareness and financial support that has come through GLOW has been an overwhelming source of joy and hope for us. As I edit this we are at the Galactosemia Conference that is but on bi-annually to bring us close to other families who are affected by this disorder, and also give us the most up to date information on how to best treat Ansell.
Although a cure is complicated, we are hopeful that soon there will be one. We have an amazing set of doctors, dietitians, researchers, who desire to see this happen... and we are glad to partner with them in their endeavors! Thank you for helping us do that!
Haven't heard of it?! Us either until it hit home.
Galactosemia is a genetic disorder that affects approximately 70 babies a year born in the US (out of 4 miliion). It is rare and it has life long consequences for those diagnosed.
Ansell has the potential for a slew of problems, even though we caught the disorder "early" (day 7)- cataracts at an early age, developmental & motor skill delay or impairment, pre-ovarian failure (menopause by early 30s, increased chance of osteoporosis), infertility, liver and kidney damage, etc... If a child goes 10 days without being diagnosed, the potential for mental retardation and death are very high. Every bottle given to a child with mammal milk is poisoning their body more.
Just because this has been caught, doesn't mean the battle is won. Every exposure to something as little as 1 goldfish can do 3 MONTHS worth of damage, especially in the first 5 years of life when the brain is developing so rapidly.
Why 3 months?! In someone with Galactosemia, when the Galactose cannot be broken down it enters the Red Blood Cells. It takes 3 months for those RBC to die and new ones to form... when they die, the Galactose dies with them.
It seems a little more simple than it is. It seems like we restrict diet and all is well. And in some ways, it is, because that is all we can do right now. But all is not well. Unfortunately, our bodies make the very sugar than Anse cannot break down. So its impossible to eradicate her body of the poison... its always there.
There are several ways we wish for your help!
1. Help us raise money for research and for support of families who have Galactosemia
We are hopeful that research will change things for Anse and those like her, but first there must be money to fund the projects. The government gives $0 to Galactosemia Research because its a rare disorder.
We also want to help support families who are financially strained by Galactosemia. One month worth of formula can cost anywhere from $200- $500 for these babes, and there is no alternative. Breastfeeding is not an option. And neither is cows milk formula, the least expensive kind.
As children grow, many families are strained by the amount of doctor visits, blood draws, therapies, and other inventions that are needed. All of these cost money, and not all families are fortunate to have good medical insurance or state support.
You can help us by-
- participating in the race, and enlisting others
- donating through our PayPal button under the donation tab
- becoming a sponsor of our event (info under the sponsorship page)
2. Help us raise awareness and celebrate those who have Galactosemia
Join us on March 4, from wherever you are, and GLOW for Galactosemia. Share our event, share our social media posts on Galactosemia Fact Fridays, read our blog below about the faces of Galactosemia, pray for us and support our efforts to ensure Galactosemia is caught as early as it can be and treated quickly, etc.
3. If you, or someone you know is affected by Galactosemia, help us build community, even though most of us are far away from each other. Share your story and become part of the story of others. We are bonded in a special way.