Bruce and Katie's Store

At the age of 18 months, my youngest son was found in his crib lifeless and looking as though he needed CPR.  It was a very frightening event, but we were able to identify that he was still breathing­–– just very out of it at the moment.  We rushed him to the hospital where I worked at the time and testing there revealed that his blood sugar was dangerously low.

 Next we were sent to Children’s Hospital of Orange County for more tests. But the new tests failed to show us anything new, significant or helpful and we were left with no answers to his problem, which clearly was not going away.  Time passed and we coped the best we could.

Then his sister–– at the same age of 18 months­––presented with the same thing.

Now we knew there was an issue! We took her to the same hospital to see the same doctor.  Tests were run and quick results came back. Our daughter’s blood sugar was high—500+ but everything else about her seemed to be just the same as her brother at the same age.  Then the doctor compared her brother’s lab results to hers and noticed that they were identical with the exception of the blood sugar.  So now we knew there was something strange going on with both kids.  

We left CHOC (who treated us very well) and started looking for answers they couldn’t give us.  We knew from the results it wasn’t diabetes, and that it appeared to be a metabolic issue­­––we just didn’t know what.  We needed to see a specialist to get better information.  

And here’s where the nightmare of healthcare comes in. The insurance company figured we’ve seen the doctors, we’ve been to CHOC; that’s enough. Our insurance company pulled the plug. We have two children who need care but because of the rareness of it, we were at an impasse. We had only two glucose monitors, our own limited knowledge, and a feeling that more must be out there somewhere.

.  My wife is a savior. She stepped up and started to understand the better ways to feed them to help keep their blood sugar in check.  It’s not perfect and we are still dealing with low or high sugar on occasion––but through her tireless efforts we are managing. But any kids’ metabolism doesn’t stay the same forever and things started to worsen for both kids despite our efforts. We had to fight our insurance company once again and the original doctor and finally find our way back to CHOC and to see a doctor more specialized in this. That was great.  

We now know that what they have is still very new and unknown so there are no diagnoses as of yet. But the kids are being helped through medication and more testing. It’s been along time since those 18-month presentations of illness. Now the kids are 11 and 9 but we are still dealing day in and day out with the same issues in many of the same ways. 

Through all the testing and new innovations we’ve found out that they have an additional issue: The CHRNA7 Gene. Again, this is new territory for the medical establishment as well as for us. There are very few known cases of people with this in the world and no true diagnosis or help exists for this one as well. But there is a glimmer of hope—if not for treatment, then at least for answers to solve the mystery of our children’s health problems.

 Texas Children's Hospital is doing a study of the CHRNA7 Gene, and we have been asked to take part in it. This trip for our family is well out of our budget, both due to the economy and due to how many expenses we incur daily which our insurance never covered.

We are asking you to help us in any way you can. We are asking you to consider helping us defray the cost of some uncovered medications and the cost of taking our family to Texas for this opportunity to unravel the mystery of these disorders.   We are hoping to find a link between the CHRNA7 Gene and their Childhood Mitochondrial Disorder, or some answers that will help us manage their care more efficiently and effectively.

An established diagnosis will eventually help us to receive more help from the CHOC specialists, the constant doctors’ visits, and the kids’ medication expenses.

I’m sure if you’ve ever had to deal with a medical issue, you can understand our dilemma and the frustration and anxiety dealing with medical issues brings to a family. Our family budget is dictated by illness.  My wife cannot work outside the home as she has to be there for the kids 24/7 even when they are at school! Anything can happen at any moment in their metabolism and she cannot be too far from them in case something goes terribly wrong. I have been working hard to keep things going in the right direction and provide for my family, but feel the weight of all we have going medically has finally caught up with us.  

We are stressed to the breaking point, so I am starting this blog to let people know what we are doing. It’s time to include the community in our trials. We need to try and get to Texas and get our medical bills and medication bills under control. We don’t want to have to choose between a roof over our heads and life-saving medication for our children. It’s a choice no American should have to make. 

We have a wonderful church community that is planning a few fundraisers for our family. The first one is a yard sale to be held on February 9^th at the church (flyer of event below) . All proceeds from the yard sale will go to helping our kids with all of the above. There is also a PayPal link below for your convenience if you aren't able to travel locally to the fundraisers. Thanks so much for your generosity.  Your help literally will make a difference in our family’s health and happiness.