Don’t get me wrong. I have hope. I try my best to always live in the moment and enjoy each day at a time. I know doctors don’t know everything or the path my daughter’s disorder will run at this stage. I hear from mothers all the time who tell me their child is still alive even though some doctor said they would only live until such and such an age…
That said, celebrating the fact that my darling Katherine Belle is turning one year older is bittersweet. I also hear the stories from mothers who have lost their sweet angels. Some days it’s hard not to think about the future; some days the reality of our situation hits me especially hard, even at the most unexpected times, even something so simple as a party decoration can bring me to my knees.
Unbeknownst to me when I ordered it, this birthday crown is very clever and cost efficient. Instead of buying a new one every year, I can use the same one and just add a new number…you get the idea. Unfortunately, this little crown brought so many tears. Will she get to use every number? Please let her use all of these numbers. Once my tears dried, I knew that I had to give my girl the birthday she wanted. With the help of so many, including friends who opened their home and hosted a party, her birthday was everything she imagined and so much more.
I asked her what she wanted and she consistently answered the same: pink balloons, chocolate cake, cookies, and a mermaid doll.
She even received a very special chair of her own to enjoy while lounging by a friend’s pool this summer.
She received many birthday presents, messages, and greetings, even from people we’ve never met. Caring folks who just wanted to send her something special… Thank you so much for making Katherine Belle’s third birthday extra special. We are blessed beyond measure to know so many wonderful people who share our hope and pray with us. I look forward to many future birthdays with my princess.
On June 19th and 20th, 2014, Katherine had several different appointments and procedures at the Cleveland Clinic. These included a follow-up MRI, a spinal tap to draw spinal fluid for testing, an appointment with a genetic ophthalmologist to look for signs of metabolic disease that commonly appear in the eyes, an appointment with our neurologist, Dr. Parikh, and with a geneticist. As will be discussed below, an EEG was added at the last minute.
The MRI and spinal tap occurred on the morning of the 19th. The ophthalmologist was that afternoon. Our appointment with Dr. Parikh was set for the 20th, but we received a call a little while after the MRI that they needed to schedule it for later that afternoon. At that moment, we feared the MRI showed that something was wrong.
Unfortunately, we were correct. The MRI showed that the damage to her cerebellum had spread since her original MRI in August of 2013 and now impacted her “entire balance center.” Dr. Parikh then uttered the dreaded acronym: INAD (short for Infantile Neuroaxonal Dystrophy). For additional information, go to:
The appointment with Dr. Parikh immediately turned to chaos. Glenda started crying very hard, Katherine got upset and kept asking “mommy, you ok?” and I felt like I was falling into a hole. Dr. Parikh wanted to discuss our reaction and the MRI some more, including showing us the images, but it just wasn’t really possible to focus. I remember he kept putting his hand on Glenda’s shoulder to give comfort and reassure her, but she was inconsolable. I did manage to explain to him that we had hoped that her MRI had not changed and that we hoped it was not INAD based on the prior negative tests. I also said that we felt like this was a death sentence.
Dr. Parikh said that the other tests were not definitive. The genetic test that was normal is normal in 20% of the cases where other tests shows that the patient has INAD, the nerve testing (EMG) is sometimes normal in the early stages of the disease, as is the skin biopsy, and the eye test (done earlier that day and showed no abnormalities and that she has better eye-sight right now than either mommy or daddy) was often normal throughout the course of the disorder. While the MRI was also not definitive, he knew of no other medical condition that shows her particular MRI findings. He asked if we wanted to look at the images, but we did not have the strength. We may regret this, but we just couldn’t right then.
He went on to say that he is 90% certain that she has INAD. I guess that means there is still a 10% chance that she has something else. He wants to follow up with the genetic testing to see if that “something else” comes up. Dr. Parikh also tried to reassure us that even if it is INAD, there is still hope. He said these cases are so very rare, that we cannot assume that our daughter will follow the same course as those that went before her; they are constantly learning that these rare disorders have different types, different outcomes and different time frames. I replied, “but her MRI is showing that her condition is advancing.” He answered “yes.” I do not remember anything that followed during that appointment except for Katherine’s repeated question “mommy, you ok?” Glenda later told me that Dr. Parikh said, “I was hoping the MRI result was going to be different, but it is not.”
Based on the MRI, an EEG was added to Katherine’s appointments. Abnormalities in the EEG are an early sign of INAD. We got up early the next morning to put Katherine through this test. A few days later we received a call from the Dr. Parikh’s office. The EEG showed “no signs of concern.” Yet another typical finding for INAD is missing. Only her MRI appears in any way like this dreaded disorder.
Yet, it is the MRI that really matters. Regardless of the label or acronym put on the disorder, the bottom line is that it is damaging Katherine’s brain. Her higher functioning remains normal for now, but her ability to control her movements is becoming increasingly impaired.
For example, her intelligence seems unaffected. Her vocabulary is growing. Her sentences are becoming more complex. She understands ideas that we thought beyond her age, including a pun the other day on Bubble Guppies, which she proved was no fluke by immediately telling a related joke (though not a pun) of her own. Her memory is better than ours. In fact, we use her as our shopping list, telling her what we need to get at the grocery, sometimes a day in advance, and she invariably remembers to tell us to get it when we go to the store. Yet, she struggles with movement. She cannot walk. Standing without aid is rare now. Standing with aid is unsteady. She falls often when sitting or crawling. Her right foot is becoming tighter when manipulated and drags when she walks with aid. She is clumsy when using her hands to reach for something or feed herself. She is unable to hold a large popsicle.
While her language content and structure is getting better, her ability to communicate the words is becoming more of a struggle; she is slipping back into that stage that all parents know well when mommy and daddy can understand most of what she says, but other people have trouble understanding her. In short, she is a happy, smart and funny little girl, slowly (for now) losing her ability to control her movements. This is slow enough that we have been able to convince ourselves that we see no regression, only the result of someone trying to do more and to do it quickly, but with a problem in her cerebellum. We now know that this is not true. In the end, what we learned is that her condition is spreading damage through her cerebellum, leading to increased balance and motor problems; she is regressing.
We can continue to hope. We are re-involving a physician from Oregon who ceased to be part of the picture after PLA2G6 testing appeared to indicate that INAD was unlikely, but who is an expert in this family of disorders. She may offer additional opinions or ideas of how to proceed. Dr. Parikh mentioned something about consulting with INAD experts in other countries, but what he said is lost in the haze of that appointment. We are going to perform whole exome sequencing at the Cleveland Clinic to see if “something else” pops up – assuming that insurance agrees to pay for it to be done, which is far from given. We will discuss this testing in a future post. Whether it shows a known mutation that leads to a different diagnosis, a mutation that becomes part of the body of knowledge about the causes of INAD in those 20% of cases where there is no PLA2G6 mutation, or a new mutation and a new rare disease, the answer matters to us. It gives us our only chance, however slim, to find something treatable. It also may add to advancements in the science behind these rare diseases that one day may save someone else’s child, even if not our own beloved Katherine. Soon, we may be left with nothing that current science can offer and no more battles we can fight.
Following the devastating appointment with Dr. Parikh, we made a tear-filled, defeated walk across the Cleveland Clinic campus. We decided that a trip to the beach with Katherine would be good for all of us, which it was.
On our drive to South Carolina, we discussed our options, which are very few, and realized we were right back where we started last September.
And then THIS happened. Celebrities, friends, family, strangers, and even a few mermaids started sharing their “Hope for KB” images, reminding us more than ever there is always hope and we are never alone on this journey.
We hope you enjoyed a gorgeous Derby Day! We had a very low-key weekend with family and friends while enjoying some of our favorite Kentucky traditions. Katherine Belle always watches horse racing with her Daddy.
We hope you enjoyed a beautiful Easter weekend. Katherine Belle had so much fun…maybe a little too much fun. She experienced her first egg hunt on Saturday afternoon and woke up with a bad cough on Sunday morning. (In all the Easter excitement, I forgot to give her her daily dose of allergy medicine. Luckily, her sickness only lasted one day.)
Here are a few pictures from our weekend:
It looks like spring is here to stay. Fingers crossed! Happy Spring!
We have more good news to share with you. On Wednesday, Katherine had her hearing tested and all is normal. We also learned today that Katherine’s follow-up fasting acylcarnitine profile was normal. Normal is good. The next steps come in June as we told you in our last post.
Meanwhile, Katherine is enjoying the outdoors while helping me with our curb appeal projects. (I think she’s a future gardener.)
Good news always calls for a little celebration, so we decided some delicious cupcakes are in order.
As always, thanks to each of you for your love, support and prayers. We appreciate each of you.