As many of you are aware, our eleven-year-old son Jacob has been struggling with an unknown progressive medical disorder that has been impacting his cognition and physical health for the past 4 years. His IQ has dropped over 40 points since then and he has been suffering with many unexplained physical anomalies such as seizures, heart blocks, respiratory issues, labile blood pressure, anhidrosis, and more. Despite working with a team of specialists at UCLA and Children's Hospital Los Angeles during these years, they ultimately referred us to the Mayo Clinic in Minnesota where they believed a diagnoses for Jacob's rapidly degenerating and complex condition could be found.
With nearly no resources other than the support of friends, Jacob and I left for Minnesota for what was planned to be a week of intensive testing at Mayo in early December. As the first round of results came in, the Mayo researchers then kept us there for the entire month of December for additional testing. Jacob averaged four very complex tests every day including biopsies, Autonomic and Central nervous system testing, a very evasive heat test to confirm his struggle with global anhidrosis, an endoscopy, colonoscopy, multiple mri's, blood draws and so many more while leaving barely any time to relax/eat.
We spent Christmas and the New Year there in the hospital every day, and our deepest thanks goes out to the Ronald McDonald house at Mayo, without whom we would not have been able to have a place to stay after that first week of tests, even though their waiting list is extremely long.
After nearly four weeks of relentless testing by over a dozen specialists and researchers at Mayo, the medical hypothesis is that Jacob may be afflicted with an extremely rare genetic disorder, in the family of diseases known as Childhood Cerebral Adrenaluekodystophy (ALD). One final series of major genetic testing needs to be performed to precisely determine the diagnoses, which involves genetic sampling and testing of both parents as well as Jacob, in order for the doctors to be certain of Jacob's condition. That testing takes three months to complete from the time of sample, and because ordinary medical insurance will not cover such high-level and high-cost genetic testing protocols, Mayo finally sent us home with some comfort-based medications for Jacob, while we try to figure out how to start this critical genetic testing right away.
Childhood Cerebral ALD is the most devastating form of ALD, it generally occurs between the ages of 4 and 10 years old. Normal, healthy boys suddenly begin to regress. At first, they may simply show minor behavioral problems, such as withdrawal or difficulty concentrating, vision problems, or start to have coordination issues. Gradually, as the disease spreads throughout the brain, their symptoms grow worse, and include blindness, deafness, seizures, loss of muscle control, and progressive dementia. This relentless downward spiral leads to a vegetative state, or in some cases proves to be fatal, usually within 2-5 years of diagnosis. Jacob has been suffering with nearly all of these symptoms, which have been progressing over the past few years now.
To say that we are devastated is an understatement. We have not explained the hypothesis to Jacob yet, in the hope that there is a chance that the complicated genetic test we need could reveal an alternative diagnoses. All of the "-dystrophy" family of conditions are without a cure.
There is actually a movie about another boy who struggled with this disorder. The movie is called “Lorenzo’s Oil”. Lorenzo's parents made it their mission in life to get their son some kind of treatment which he so desperately needed, as there is currently no treatment to halt the progress of this rare condition. Their effort yielded findings of an Oil that could possibly slow the progression down, and that Oil is now known as "Lorenzo's Oil". Sadly, Lorenzo succumbed to the disease despite their efforts. Lorenzo's Oil remains one of the only known treatments for this disorder, but researchers are continuing to try to find more possible solutions every day.
Once a person is diagnosed with this disorder, the protocol for starting the Oil, along with other medically necessary treatments to help the patient with all of the symptoms, are dependent on how far the disorder has progressed, what age it started, etc. Unfortunately, those answers will only come with the family genetic testing that Mayo has ordered for us.
I am asking everyone I know, and hope you will ask those that you know, to please send their most positive thoughts and prayers to Jacob, in the hope that he does NOT have this specific disorder, and may prove to have something more treatable.
Given the prognosis of the current diagnoses, and our need to find a way to start the final genetic testing (which itself costs over $20,000), we are doing our best to mentally, emotionally, and financially prepare for a devastating journey. Obviously, the last several months have taken quite a toll on us in all of these ways. It is incredibly hard. Thank you so much to all of you who have been supportive of us through these shocks, we could not have made it this far without you.
While Jacob and I were in Minnesota for the month, my husband Mike had to take medical leave to care for Jacob's younger brother Mason. Last week we were told that Mike's medical leave payments were denied because he was physically at home with Jacob's brother and not at Mayo with us. We are still devastated at that news, and even our State Senator could not override the determination from the State EDD office. A day later we were advised that Medi-Cal (Jacobs additional insurance) is not accepted for out-of-state medical bills. Therefore, we have suddenly inherited over fifty times the medical expenses we were anticipating, on top of the rejected medical leave income.
So on top of everything else, the effort to help our son has brought us to the brink of total economic insolvency.
❤️ Of course, we are completely devastated - but for Jacob, we cannot be too proud or humble to ask any entity, anywhere, for any possible urgent financial assistance, now just to be able to keep the roof over our heads. Every day we are persistently seeking, and receiving guidance to navigate the much broader financial aspects of Jacob's situation, but today we are in a sudden hole, and are literally desperate for any help we can find. The effort just to survive now has been physically and emotionally draining on every member of our family, and we are desperately trying to shield the children from all of this financial and medical anxiety and urgency. And without support, Mayo can't even begin Jacob's necessary genetic testing. It’s so difficult for us to understand why we have been put in this situation, but here we are... and as humiliating as it may be, we have no choice but to fight shamelessly to help our son in every way that we can. We are so embarrassed to reach out, but we hope that someone somewhere is able to help us continue the fight to move forward trying to help our beautiful child. Thank you all so much for caring and asking for an update. And thank you even more for helping in whatever way you or others you know may be able, to help our baby finally know and begin to get a firm diagnoses and treatment for what we hope will not be an abbreviated life for him ahead...❤️
DonationsSee top donations
- Lydia Arbizo
- Brenda Coleman
- Robert Woolacott
- Kerry&Kevin Rohrer
- Joanne Mello
Organizer and beneficiary
#1 fundraising platform
More people start fundraisers on GoFundMe than on any other platform. Learn more
In the rare case something isn’t right, we will work with you to determine if misuse occurred. Learn more
Expert advice, 24/7
Contact us with your questions and we’ll answer, day or night. Learn more