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From the very first moment Harlow James arrived into this world everything completely shifted. We were gifted this beautiful baby girl, full of happiness, wonder, adventure and an instant owner of our hearts! We knew that she was going to change our lives forever and we were ecstatic to begin our family. Brand new parents with a bundle of love, life seemed to be perfect, little did we know that many hardships were right in front of us.
After Harlow was born the doctors instantly noticed a distinct birthmark that ran from the middle of her head to right above her eye. They had mentioned that this mark could be an indicator of underlying neurological complications. Being first-time parents with a minute old infant this news sent us into an instant panic. We were overwhelmed with questions and deep concerns. What does this all mean? Will her birth mark fade? Will she be okay? Will she have a chance to live a "normal" life? Frantically searching for possibilities and answers ,we came across a condition called Sturge-Weber Syndrome.
Sturge-Weber is s a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by a congenital facial birthmark and neurological abnormalities. Sturge-Weber is an incredibly rare medical condition characterized by a facial Port Wine birthmark and varying degrees of glaucoma/and or seizure disorder. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees.
At one month old, Harlow underwent her first MRI to give us insight into her brain and the severity of the condition. The Neurologist confirmed that she was showing early signs of Sturge-Weber Syndrome. We were advised to be proactive and start her immediately on low dose aspirin as a preventative for strokes and to keep a close eye on Harlow as she may start to have seizures. We then had an Early Intervention Specialist evaluate Harlow to determine if she was showing any developmental delays which are very common with this diagnoses. At the current time she did not qualify; however, from this day forward, we had to establish a team of doctors to develop a strategy plan for Harlow's health as she progresses. We took immediate action and found a Neurologist, a Dermatologist to start her PDL laser treatment, and an Ophthalmologist to check her for Glaucoma . Thankfully, Harlow was cleared from Glaucoma and any other optical issues that may have been caused or developed from this condition. We also visited a Sturge-Weber Specialist - Dr. Anne Comi in Baltimore, Maryland where she further clarified the severity of Harlow's condition. With this team we felt prepared for what we were told were possibilities for Harlow, and yet nothing could make us ready for what came next.
At 10 weeks , our worst nightmare happened. Harlow woke up for her morning bottle and drank her first ounce as she normally did. All of a sudden her eyes started to twitch and she was having her first seizure! Shortly after her eyes started to twitch her mouth, left arm, and leg started to move rigidly and rapidly for 20 minutes. Feeling frantic and helpless as she seized in our arms we called 911 and waited for help to arrive. Harlow experienced two major seizures as she was transferred to The Children's Hospital of Philadelphia from our home in Freehold. Once, stabilized and hooked up to EEG machines, we were then further notified that Harlow was experiencing multiple Sub-clinical Seizures. These seizures happen inside the brain and do not have any physical indication of occurrence. We were beside ourselves and felt completely helpless for our baby girl. We were admitted into the ICU unit of CHOP and stayed there for six days as the doctors tried many medications to control her seizures. After many days of monitoring and extensive tests, the Neurologists at CHOP diagnosed Harlow with epilepsy as a result of the Sturge-Weber Syndrome. We left with an understanding of her condition and a motivation to comprehend the life Harlow will live now being medicated every day in hopes of not having a seizure again. Unfortunately, we have fallen deeper into despair and heartache as the seizures have not stopped. Since that day in December and in the first four months of her life, Harlow has experienced five more seizures all ranging in time,movement and severity. We live each day in fear of another seizure and are crippled by the helplessness we feel for our daughter.
To say that Harlow's health has put a demand on our lives in an understatement. My wife, Carissa, who has endured each seizure with our daughter has struggled with her return to work. As her maternity leave has come to an end, Harlow's condition has seemed to peak. This devastation and intense need to be home with our child, has put us in a tough situation financially. As a family we had to make the decision for Carissa to extend her leave and not return to work. Unfortunately, this extension from work is not paid and not covered by our insurance. This option seems unmanageable but Carissa would not be able to maintain a working career with the amount of doctor appointments, EEGs and medical treatments Harlow endures weekly. It took a lot of humbling discussion and true concern for our family that we reach out and ask for help. These funds raised will help our family pay for current and future medical expenses, treatments, insurance premiums and any unexpected obligations that come with this condition. We realize and have come to terms with the fact that this condition will be with our Harlow for the rest of her life. We are working hard to be prepared to face this with our child but realized we are struggling at this time. We are so appreciative of any contribution and express sincere gratitude to all generosities that may come from this. You are helping our family navigate this difficult and unsure time with hope and we will be forever grateful to your support.
After Harlow was born the doctors instantly noticed a distinct birthmark that ran from the middle of her head to right above her eye. They had mentioned that this mark could be an indicator of underlying neurological complications. Being first-time parents with a minute old infant this news sent us into an instant panic. We were overwhelmed with questions and deep concerns. What does this all mean? Will her birth mark fade? Will she be okay? Will she have a chance to live a "normal" life? Frantically searching for possibilities and answers ,we came across a condition called Sturge-Weber Syndrome.
Sturge-Weber is s a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by a congenital facial birthmark and neurological abnormalities. Sturge-Weber is an incredibly rare medical condition characterized by a facial Port Wine birthmark and varying degrees of glaucoma/and or seizure disorder. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees.
At one month old, Harlow underwent her first MRI to give us insight into her brain and the severity of the condition. The Neurologist confirmed that she was showing early signs of Sturge-Weber Syndrome. We were advised to be proactive and start her immediately on low dose aspirin as a preventative for strokes and to keep a close eye on Harlow as she may start to have seizures. We then had an Early Intervention Specialist evaluate Harlow to determine if she was showing any developmental delays which are very common with this diagnoses. At the current time she did not qualify; however, from this day forward, we had to establish a team of doctors to develop a strategy plan for Harlow's health as she progresses. We took immediate action and found a Neurologist, a Dermatologist to start her PDL laser treatment, and an Ophthalmologist to check her for Glaucoma . Thankfully, Harlow was cleared from Glaucoma and any other optical issues that may have been caused or developed from this condition. We also visited a Sturge-Weber Specialist - Dr. Anne Comi in Baltimore, Maryland where she further clarified the severity of Harlow's condition. With this team we felt prepared for what we were told were possibilities for Harlow, and yet nothing could make us ready for what came next.
At 10 weeks , our worst nightmare happened. Harlow woke up for her morning bottle and drank her first ounce as she normally did. All of a sudden her eyes started to twitch and she was having her first seizure! Shortly after her eyes started to twitch her mouth, left arm, and leg started to move rigidly and rapidly for 20 minutes. Feeling frantic and helpless as she seized in our arms we called 911 and waited for help to arrive. Harlow experienced two major seizures as she was transferred to The Children's Hospital of Philadelphia from our home in Freehold. Once, stabilized and hooked up to EEG machines, we were then further notified that Harlow was experiencing multiple Sub-clinical Seizures. These seizures happen inside the brain and do not have any physical indication of occurrence. We were beside ourselves and felt completely helpless for our baby girl. We were admitted into the ICU unit of CHOP and stayed there for six days as the doctors tried many medications to control her seizures. After many days of monitoring and extensive tests, the Neurologists at CHOP diagnosed Harlow with epilepsy as a result of the Sturge-Weber Syndrome. We left with an understanding of her condition and a motivation to comprehend the life Harlow will live now being medicated every day in hopes of not having a seizure again. Unfortunately, we have fallen deeper into despair and heartache as the seizures have not stopped. Since that day in December and in the first four months of her life, Harlow has experienced five more seizures all ranging in time,movement and severity. We live each day in fear of another seizure and are crippled by the helplessness we feel for our daughter.
To say that Harlow's health has put a demand on our lives in an understatement. My wife, Carissa, who has endured each seizure with our daughter has struggled with her return to work. As her maternity leave has come to an end, Harlow's condition has seemed to peak. This devastation and intense need to be home with our child, has put us in a tough situation financially. As a family we had to make the decision for Carissa to extend her leave and not return to work. Unfortunately, this extension from work is not paid and not covered by our insurance. This option seems unmanageable but Carissa would not be able to maintain a working career with the amount of doctor appointments, EEGs and medical treatments Harlow endures weekly. It took a lot of humbling discussion and true concern for our family that we reach out and ask for help. These funds raised will help our family pay for current and future medical expenses, treatments, insurance premiums and any unexpected obligations that come with this condition. We realize and have come to terms with the fact that this condition will be with our Harlow for the rest of her life. We are working hard to be prepared to face this with our child but realized we are struggling at this time. We are so appreciative of any contribution and express sincere gratitude to all generosities that may come from this. You are helping our family navigate this difficult and unsure time with hope and we will be forever grateful to your support.