Hello family and friends,
Welcome to our Caring Bridge site for our beloved daughter Harlowe Grace Ilse. We decided to go this route to have one place to update family and friends. Here is our story...
Jan 3rd, 2021 Harlowe had her first seizure. Then more to follow : Jan 14th, Jan 17th, Feb 14th, Mar 17th, etc. After many tests, ER visits, Dr visits she was finally diagnosed with Idiopathic Epilepsy with both Focal and Generalized features. The idiopathic part of the diagnosis was because they hadn't figured out why she was having seizures. In the process of checking all the boxes in trying to find the cause of her epilepsy we had a genetic test done on Harlowe.
On April 2nd, we got the genetic test results back. She was diagnosed with Late Infantile Batten Disease (CLN2). Late Infantile Batten Disease is a serious inherited disease of children, typically ages 2-4. It is characterized by seizures, loss of motor skills and cognitive ability, loss of vision and hearing, and a reduced life expectancy. Usually between ages 6-12.
It was more than a shock. It was unfathomable. This perfect, beautiful, smart little human growing smarter and stronger every day has this evil disease. It didn't and still doesn't make sense. We asked if it could be a mistaken diagnosis and our neurologist assured us it wasn't. She double checked with anyone and everyone that this was correct before delivering us the horrific news. We were also told we needed to take the next month or more off of work ( FMLA paperworks was already being processed). She explained what type of Batten disease Harlowe had been diagnosed with and that there is a new FDA approved treatment for her particular type. There were 3 Drs in our area ( 2 in Chicago and 1 Madison ) that administered this treatment. We needed to choose right then and there which area we wanted to go to. She said it was imperative that we choose and get this ball rolling because the longer we wait the more degeneration Harlowe would experience. Time was of the essence. We chose Madison. She then hugged us and cried with us. She was crying the whole time she told us. I love our neurologist, she has the very biggest heart. Needless to say we were heartbroken and in a massive state of grief as we left the hospital.
Out of every 100,000 babies born in the United States, it’s estimated that about two to four have some form of Batten disease that’s passed down through families. Since it’s genetic, it can affect more than one person in the same family. Both parents have to be carriers of the gene in order to pass it down. Each one of their children has a one in four chance of getting it.
Ryan and I both carry the TPP1 gene - which when both parents carry this gene it causes Batten Disease.
Essentially, Batten disease affects the function of tiny bodies within cells called lysosomes. Lysosomes are the "recycle bin" of the cells and regularly break down waste, proteins, and naturally occurring fatty compounds called lipids into smaller components that can be discarded out of the cell or recycled. Our brain cells clean themselves out nightly, this is not happening for her. The mutated genes do not produce the proper amounts of proteins important lysosomal function. These proteins are needed for brain cells and other cells to work efficiently. The lack of a functional protein causes the abnormal buildup of "junk" material in the lysosomes. Which in a nut shell will kill the cell eventually. This is what leads to rapid degeneration and short life span. The brain cells are slowly being suffocated to death.
Here is a quick youtube tutorial on it:
https://youtu.be/5_VdzpOa0zw (
https://youtu.be/5_VdzpOa0zw) ( the genetic cure part of this video is the future, not currently available. But it’s a quick video to explain how this disease happens & understand it’s volatile swift deterioration.)
There are 13 different types of Batten Disease and her particular version, CLN2, is the only that has an FDA approved treatment that can slow, if not halt her degeneration of motor skills, cognitive abilities, and hearing. Unfortunately not her vision loss. We are very fortunate to live where we do because we only have to travel to Madison to receive her treatments, so close!
The treatment is called Brinuera. It is an enzyme replacement therapy. It is the only treatment approved by the FDA. The clinical studies were started in 2015 and approved by the FDA by 2017. Which is really rapid, but they results were obvious enough ( and I would guess that the diagnosis is so bad that it couldn't get worse), so without 20 years and 100 clinical trials it was approved. It is administered through a port in her head/brain. It's a 5 hour infusion every other week life long. We will be traveling to Madison every other Friday future forward or until they find a cure. The reservoir sits under the scalp on the right front side of the head. It has a tiny, skinny catheter that weaves through he brain to release the enzyme treatment to the cells. It also has a hard rubber top that leaves the appearance of a little bump on her head. They use a skinny little needle to puncture into the rubber top and that's how it's done.
We feel we are very lucky she started having seizures. They were the signal that led us to a very early diagnosis. She has little to no degeneration yet. The treatments can slow/ halt any further degeneration, but they can not reverse any.
We keep giving many thanks to all these silver linings - That she has the particular version that has a treatment, that she had seizures that led to the diagnosis, that the treatments are so close. We recognize this is not the same story for many, so we feel we need to acknowledge the little blessings.
We are extremely grateful to all our family and friends who immediately showed up to hold us up when we couldn't ourselves, the kind cards, gifts and support. We felt the love. They say it takes a village, well we feel like we have a enormous city! Way bigger than a village. We are so blessed. There are not enough words to express out gratitude and appreciation for all the love. Thank you from the very bottom of all our hearts.
We will continue to update this site as we travel this journey. And again we thank you for joining us while we navigate our Battle with Battens. GoTeam Harlowe!
With all our love,
XOXOXO
Ryan, Erica and Harlowe Grace
