Sophia’s Medically Complex Journey
Donation protected
Hello everyone! We are Daniel, Lily, and Sophia Godfrey! Many of you have been following our sweet Sophie’s medical mystery journey that started well over a year ago now.
After countless doctors appointments, hospital stays, and lots of very expensive testing it has been discovered that our Sophie girl has an exceptionally rare genetic disorder called CLTC Related Neurodevelopmental Disorder. This disorder explains all of her symptoms and medical challenges she has. It is still very new so there is a lot that we will learn along the way. Sophie’s specific mutation is what’s called an inframe deletion which means that one whole part of the amino acid in the gene is deleted (there are 3 bases so one of hers is completely gone). This does mean we see a lot of the symptoms that can be caused by this disorder in Sophie. Sophie has a motor and speech delay. All children with this disorder have an intellectual disability and delayed adaptive ability (common sense and skills like independence in living and dressing and feeding etc). Most have a facial difference (Sophie’s is just the ridge on her forehead and a longer forehead). This disorder reports that at times patients have extreme Gastric challenges. Most of the symptoms for this disorder fall under what’s called neuropsychiatric which includes things like low muscle tone and the biggest symptom that Sophie has which is a brain underdevelopment of the corpus collesum which is the structure in the middle of the brain that sends messages across the brain to the other side. This disorder is caused by a deletion of the protein in her cells which their purpose is to communicate to other cells in her body. This means her body and brain operates much slower than normal. Sophies Geneticist has referred her for a full heart and kidney work up as this has been seen in kids with this disorder. Just to ensure there is nothing anatomically different with them. Currently Sophie makes the 30th person in the world reported with this disorder. The oldest people reported with this disorder are in their twenties and they both have tested positive for Parkinson’s disease. This is due to their genetic makeup however this does not necessarily mean Sophie will develop Parkinson’s it’s just information for us to to be mindful of for now.
She is currently thriving with drinking pedaisure and baby food pouches during the day while having continuous JTube night time feedings every single night. She has all the therapies every single week to try to help her continue growing in all areas of her life. It is such a joy to watch her become her own little person with a HUGE and beautiful personality!
However, with a medically complex baby we are always in a constant battle with insurance and DME companies originally because she did not have a diagnosis and now it is a battle due to its very rare nature. Not to mention the enormous out of pocket costs that come along with big tests and hospital stays and the expensive formula required for her JTube feedings (almost $1,000 a month plus 100 dollars a week in pediasure). We are trying to get her Medicaid however we have been denied many times already. This has left us with an immense set of medical bills. This has caused us to have to go through 3rd party payment companies and be faced with the possibility of debt collectors because the amount is just too large for us to feasibly pay off in a normal amount of time.
We have tried to conquer the HUGE battles we fight every week in getting medical supplies for Sophies needs on our own. Sadly, along with countless other families who have special needs, we have learned that the burden of the medical cost can be too much to bear. It’s not a fun topic, it doesn’t leave you with fuzzy warm feelings, but rather often leaves you with bitterness and anger that no one should have to experience. After sharing this with our friends and family many have asked if there is a platform they can donate and help cover some of these costs. Therefore, we have created this GoFundMe for those who feel led to help with medical costs as we go on this journey of Sophie’s genetic and medical complexities.
After countless doctors appointments, hospital stays, and lots of very expensive testing it has been discovered that our Sophie girl has an exceptionally rare genetic disorder called CLTC Related Neurodevelopmental Disorder. This disorder explains all of her symptoms and medical challenges she has. It is still very new so there is a lot that we will learn along the way. Sophie’s specific mutation is what’s called an inframe deletion which means that one whole part of the amino acid in the gene is deleted (there are 3 bases so one of hers is completely gone). This does mean we see a lot of the symptoms that can be caused by this disorder in Sophie. Sophie has a motor and speech delay. All children with this disorder have an intellectual disability and delayed adaptive ability (common sense and skills like independence in living and dressing and feeding etc). Most have a facial difference (Sophie’s is just the ridge on her forehead and a longer forehead). This disorder reports that at times patients have extreme Gastric challenges. Most of the symptoms for this disorder fall under what’s called neuropsychiatric which includes things like low muscle tone and the biggest symptom that Sophie has which is a brain underdevelopment of the corpus collesum which is the structure in the middle of the brain that sends messages across the brain to the other side. This disorder is caused by a deletion of the protein in her cells which their purpose is to communicate to other cells in her body. This means her body and brain operates much slower than normal. Sophies Geneticist has referred her for a full heart and kidney work up as this has been seen in kids with this disorder. Just to ensure there is nothing anatomically different with them. Currently Sophie makes the 30th person in the world reported with this disorder. The oldest people reported with this disorder are in their twenties and they both have tested positive for Parkinson’s disease. This is due to their genetic makeup however this does not necessarily mean Sophie will develop Parkinson’s it’s just information for us to to be mindful of for now.
She is currently thriving with drinking pedaisure and baby food pouches during the day while having continuous JTube night time feedings every single night. She has all the therapies every single week to try to help her continue growing in all areas of her life. It is such a joy to watch her become her own little person with a HUGE and beautiful personality!
However, with a medically complex baby we are always in a constant battle with insurance and DME companies originally because she did not have a diagnosis and now it is a battle due to its very rare nature. Not to mention the enormous out of pocket costs that come along with big tests and hospital stays and the expensive formula required for her JTube feedings (almost $1,000 a month plus 100 dollars a week in pediasure). We are trying to get her Medicaid however we have been denied many times already. This has left us with an immense set of medical bills. This has caused us to have to go through 3rd party payment companies and be faced with the possibility of debt collectors because the amount is just too large for us to feasibly pay off in a normal amount of time.
We have tried to conquer the HUGE battles we fight every week in getting medical supplies for Sophies needs on our own. Sadly, along with countless other families who have special needs, we have learned that the burden of the medical cost can be too much to bear. It’s not a fun topic, it doesn’t leave you with fuzzy warm feelings, but rather often leaves you with bitterness and anger that no one should have to experience. After sharing this with our friends and family many have asked if there is a platform they can donate and help cover some of these costs. Therefore, we have created this GoFundMe for those who feel led to help with medical costs as we go on this journey of Sophie’s genetic and medical complexities.
Organizer
Lily Godfrey
Organizer
Clemmons, NC