Wow! I can't believe it's taken me this long to update this website. It has been a whirlwind of a year or so since I last was on. They say you have to put up with the rain to get the rainbow, but it feels like we've been drowning in the rain with no rainbow in sight, not less that pot of gold at the end.
Over the past year we found out that Alec and Emma have not only the calcifications in their basal ganglia of the brain, they also have iron accumulation. Alec's is actually more severe than Emma, and our Neurology team at Johns Hopkins Hospital believe he is further progressed than Emma. Because of the area of his brain that's affected, this has brought on some severe symptoms for him. We've had many hospital stays, and trips to Mayo Clinic and Johns Hopkins for treatment for him. Currently we are working closely with a Specialist at University of Michigan who the doctors at Johns Hopkins referred us to so we'd have someone closer to home.
Our dna is still in Spain for a research study. It will be 2 years soon of waiting. We are also having the genetics lab redo our whole exome sequencing. Thankfully through our team of doctors the lab is redoing it one time for free for us. Until the government and insurance companies get on board with genetic testing it would be about $40,000 per person. Know wonder why people go undiagnosed.
We are still hanging in there. Thank you to those who have stayed by our sides. This journey would be impossible without your love and support. We are hoping and praying that this genetic testing will bring answers soon. Then the team of scientists at Johns Hopkins can develop a treatment to help us.
We returned from our trip to Johns Hopkins this week. We are grateful and blessed to have such an amazing team of Neurologists, Neuroscientists, Neurogeneticists, and Genetic Counselors in the country working so hard to help find answers for us. It has been a rough year not only for Emma, but our son Alec as well. Alec has been exhibiting similar symptoms this year that Emma did at first. Mainly headaches and severe anxiety and depression. Emma's doctor ordered a MRI and CT for Alec to see if it was similar to Emma's. Alec's imaging revealed some abnormalties which we thought was only some changes in white matter in his brain. JH had is scan reviewed again by a Neuroradiologist and he does have calcifications in the basal ganglia. They are light and do not show up on imaging as dense as Emma's...but there. Unfortunately it appears Alec has the same unknown genetic neuro-degenerative brain disease. Because of Alec's extreme anxiety and depression the doctors are recommending we hold off on telling Alec about the calcifications. He is aware of his abnormal MRI and they feel that is enough for him to process at this point. Emma's team of JH doctors are seeing Alec as a patient as well.
Emma has finished 8 months of PT, OT, and Speech Therapy (for memory loss). Insurance will only cover so much, so we are on hold until it renews again after the first of the year. While at JH her doctor also diagnosed her with POTS (Postural Orthostatic Tachycardia Syndrome). Thankfully because of our trip to Mayo Clinic's Pediatric Pain Center last Fall and the precious kids we met there, we are well aware of POTS and the treatments to manage it. We also still have these kids and their incredible families support through this. They have been our extended family and we are forever grateful that Emma was in Mayo's program during the time she was.
Now since Alec has this as well we have a better chance to get diagnosed. Although this is a new disease that they have never seen before, we are in the best hands of Research Scientists and Genetic Labs in the world to find the genetic mutation and hopefully develop a treatment to halt the progression of this disease. JH is redoing the Whole Exome Sequencing but this time is adding Alec's DNA. Results will take about 3 months, and we have about a 50% chance of it showing the genetic mutation.
We are thrilled that a Research Genetic Scientist in Spain is willing to take our case in their research study doing Whole Genome Sequencing. We are unable to get this test done in the US. It may take us over 2 years for results, but we are blessed beyond words that we were given this opportunity to have our family part of this groundbreaking research. We can only hope and pray that maybe through Emma's extremely long and difficult journey that answers will come soon. Once this new disease is diagnosed and hopefully a treatment will follow, then other parents and kids will not have to suffer so long for answers.
We wish you all health and happiness into 2018. Sorry we are going to have to put on hold Emma's monthly subscription care boxes a little longer. With everything going on we don't have the time or energy to do it right now. Thank you to all who have supported, once we are able to set it back up we will.
Sorry for the delay in getting back with everyone on our last trip to Johns Hopkins for Emma's MRI. Honestly it's been a really rough summer and we are still waiting on test results. So unfortunately I don't have much to update.
Johns Hopkins is still in the process of comparing Emma's first MRI and MR Spectroscopy with the one she had done at JH a few weeks ago. They requested that our son also get a MRI because of some similar symptoms that have arose over the past 6 months (headaches etc). We had his done a couple weeks ago and Michigan is sending Johns Hopkins his imaging to compare to Emma's. They are both undergoing a genetic test at Baylor called global mapping. This will take about 4-6 weeks for results. Depending on results from our latest testing if there's no answers then Johns Hopkins is going to refer us to one of their research clinicians in Spain for genetic testing. Emma's Neurologist in Michigan has his team submitting her case to National and Global Medical Journals to see if they can get a hit. He is also going to start the application process to the National Institute of Health (NIH) Undiagnosed Diseases Program if we still don't have answers from this latest testing.
So all that to say, I don't have much to say right now. We are waiting and hoping and praying that answers will come soon. In the mean time we have 6 weekly appointments to try to manage symptoms. Thanks again for swimming with Emma on her journey.
Sorry for the delay in posting on our recent trip to Johns Hopkins. Emma spent her 14th birthday driving back to Baltimore. Even though her memory has severely deteriorated I'm sure it's one birthday she will not soon forget.
In Baltimore we saw a Mitochondrial Neurologist, Neuro Research Scientists, Neurogeneticists, and a Neuro Opthamologist. I'm blessed beyond words that these brilliant doctors have teamed up to find us exact answers and a possible treatment to slow Emma's progression. They are definitely not giving up on her. She has the best doctors in the world working with us....I'm grateful for them taking such an interest in helping my baby girl. Because they are almost positive we are dealing with a genetic disorder they've asked that our son gets a MRI as well. I have an appointment with Emma's Neurogeneticist in Michigan in July for him, his MRI is TBA.
Emma had a ton of blood work taken while we were there. Our JH Genetic Counselor is in the process of fighting with our insurance for some of the labs that went to Baylor. Some other labs that went to Mayo for testing unfortunately clotted before it got there so we will have it redrawn when we go back to Baltimore next month. Because of Emma's continued decline in mobility and functioning we are traveling back to Johns Hopkins the end of July for another MRI of her brain and they also want to scan her spinal cord. She will also have another MR Spectroscopy of her brain.
They ordered continued PT, OT, and Speech Therapy to help with memory at home. We are currently in our 3rd month of PT. They also ordered an EMG/Nerve Conduction Study which we did last week. The picture above is the portion of the test when the Neurologist put the electrodes on her arms, hands, legs, and feet and sent the electrical shock pulse to her nerves. I was holding her hand during the part when he shoved a long needle into her muscles while she cried....Absolutely horrific experience.
Once they have the new imaging completed next month, they are going to look into sending us to Baylor for a research study on people with basal ganglia calcifications. Obviously it's a very hectic time right now so unfortunately our care boxes are going to have to be on hold until further notice. I was hopeful that come fall things would settle down. Right now with Emma deteriorating and our multiple appointments in and out of state, I'm not sure if this fall is realistic for things settling down.
Thanks again to all those who have donated on this site, the gofundme page, and fundraiser. We would not be able to have gotten her the help, especially out of state, without your support. Please know you're a huge piece of our journey, and we are forever grateful.
A friend posted the link to this video on our Journey of a Jellyfish Facebook page. It was hard for me to watch at first. I guess it's a harsh reality of my life the past few years as well as the lives of so many...too many... other special moms I know.
In honor of Mother's Day I want to shout out to all the moms and mother figures...
But this year I want to recognize my fellow moms with chronic and terminally ill kids. To those who had to master "fake bravery". Those who have spent too many days crying in the shower. Those who scream alone in the car or into your bedroom pillow. Those who break down in a hospital or doctors office hallway so your child doesn't see you... Then suck it up, wipe your tears, and pull inner strength that can only be explained as divine. You are the pure example of a mother's love, strength, and courage. You are amazing. You are not alone.
Happy Mother's Day
Due to some unforeseen medical emergencies our care boxes will be put on hold. We will mail May's boxes for current subscribers. Unfortunately we are unable to take new orders at this time. Hopefully we will be back to making our self-care boxes in a few months. Emma will be at John's Hopkins again the end of May.
Please continue to keep her in your thoughts and prayers.
Thank you for swimming with Emma.
I'm going to expose insider information of parents of chronically ill/chronic pain children. During a parent meeting at Mayo Clinic's Pediatric Pain Rehabilitation Center the Pain Psychologist leading the group let us parents know what the medical definition of the word "FINE" is...
Yes, she did say the F-word...which was shocking, yet a needed icebreaker to a very emotionally charged meeting. I have heard "Freaked Out" substituted if you'd rather. So you ask a parent how they are doing and they respond with "I'm Fine"...now you know. ;-)
Dos & Don'ts
Chronic means the illness and or pain is persistent and lasts longer than 3 months. There's no cure for chronic illnesses, and symptoms vary in intensity and can change over time. Living with a chronically ill/chronic pain child can be beyond emotionally, physically, and spiritually taxing on the entire family. For the parents the days of uncertainty turn to weeks, months, and years. The endless doctor appointments, therapies, hospitalizations, and financial stress can filter quickly throughout the entire family unit. Parents generally feel pulled in different directions trying to prioritize your ill child's health and needs with trying to make your other healthy children's emotional health and lives as "normal" as possible, in a life that's anything but.
When a child is first diagnosed or the illness and pain initially surfaces the support floods in and everyone wants nothing more to help the child and family. At this time, everything is so fresh parents don't even know what they need or what people can do or say that's helpful. I've talked with several parents over the past few years living with a child with chronic illness and pain and I've complied a few things that seem to be helpful...and not. Hope you find some of this helpful. It's so hard in traumatic situations to know what's the right thing to do or say. Know, there is no right or wrong. Just love them and know that your love is needed and appreciated more than you'll ever know.
I think this picture below says it all... When flipped upside down it's an entirely different response.
My goal with this blog has been one post per month. It's been a challenging month for Emma and unfortunately my time and energy has been spent dealing with other things. I do have an exciting and informative blog topic I'd like to get out of my head, but it's going to have to wait until April. So March's blog is going to be more of an Emma update.
Her Neurologist ordered Physical Therapy at Children's Hospital twice a week. Her muscle pain and weakness has quickly deteriorated these past few weeks. Thankful for having an amazing team of doctors who are actively trying to help with managing Emma's pain and symptoms. She's an amazing patient though, and is determined to push through.
They have also diagnosed her with Aphasia and we are in the process of getting insurance approval for a Speech Therapist to work with her. They want to add Occupational Therapy at some point, but feel she's not strong enough now to do both PT and OT.
We received a script to get insurance reimbursement for a wheelchair...just in case we need it. This was a hard pill to swallow, but knowing that Emma could be restricted at doing or going to places she loves because of her physical limitations was harder to accept. Yesterday was my birthday and one of our favorite calming places to go is the Detroit Institute of Arts Museum. We were able to break in her new wheels...and I tried hard not to run her into the millions of dollars worth of precious artwork. ;-) We stayed hours and she had a great time. She still hurt every moment, but was able to be distracted with soaking in the beauty of her surroundings.
At the end of our day she thanked me... she thanked me for letting her use the wheelchair and pushing her for hours so she could enjoy my birthday with me.... No, baby girl...thank you. Your heart and and strength has pushed me through these past couple years.
I'm giving our insurance co. credit for all of my grey hairs. Wonder if I can claim getting my hair colored as a medical expense? Seriously though, dealing with health insurance companies can cause you to lose your mind....but then you'd be stuck having to deal with them to pay for the treatment of your mind. Unfortunately we've dealt with them way too much, but through it all I've learned valuable information that hopefully can help save you time...and your mind.
IT'S NOT PERSONAL...IT'S BUSINESS
First things first...remember that your health insurance company is a business. They are out to make money. Like all successful companies, they make a lot of it. Millions of dollars in premiums are paid each year to health insurance companies who make money by spending as little of the money you give them as legally possible. .
HAVE YOUR DUCKS IN A ROW
It's always best to have everything in writing. If you have a contact email...use that instead of calling. Although all calls are recorded, you will never get the same level of attention if it's not in writing. Having a paper trail is one of the best defenses you have if things go awry. If you do need to call make sure you are prepared. Here are a few tricks I've found helpful.
KILL THEM WITH KINDNESS
After you listen to a hour of smooth jazz, and press 40 prompts you finally get a live human to talk to. I know this may sound totally contradictory but although the random human who picked up your line works for your health insurance company and is doing their job....they are, in fact, human. It is not their fault your claim was denied, or whatever the reasoning it is for your call. Ever hear the phrase you have to give respect to get it? Yeah, unfortunately this applies to insurance agents too. That person is your only link to getting what you need. You will hit a brick wall if you call yelling and screaming. So what can you do?
NO SAY.... NO PAY
We actually had this situation come up 2ce with Emma last year. She had a muscle biopsy done that was ordered by our Neurologist to have some genetics testing done. The Anesthesiologist our hospital used wasn't in-network with our insurance company nor was the lab that did the testing. Our insurance was billing under out-of-network. This is a big NO, NO and your insurance knows it. If you chose a doctor etc that's out-of-network, then that's on you. You are not legally responsible for anything you didn't have a say in. They will try to pull one over on you, and unfortunately some people just pay up.
MAKE SURE IT MATCHES
Before you pay a dime of your bill make sure you have your EOB that goes with that bill. Make sure the bill from the provider and your patient responsibility on your EOB matches. Especially if you're dealing with thousands upon thousands of dollars of claims...things get messed up. Providers like to jump the gun before they get a response from your insurance co. Sometimes they guess you have a deductible that hasn't been met, or a co-pay. If your EOB has anything that shows it's a non-covered service...ask about it. Sometimes coding is wrong, or other human error. They can always resubmit the claim.
APPEAL...APPEAL AND APPEAL AGAIN
Your doctor orders a procedure, test, treatment, etc. and you get a denial form letter in the mail from your health insurance company with the typical denial jargon. According to the denial letter the medical expert that is hired by your insurance company that denied your claim found your claim not be medically necessary, or the test is experimental, diagnostic, or the test won't change your course of treatment. Here's some things that you can do to try and get what you need approved by your insurance or your doctor wouldn't have ordered it in the first place.
Most importantly, be persistent. You are your, and your child's best advocate. It seems unfair that with everything you are going through, that the added stress of health insurance is another burden to carry. Don't let it break your spirit. Persistence does pay off. Use the stress you feel against your health insurance company as fuel to fire your determination to fight for what is best for your health and your child's. Hang in there...I'm fighting along with you.
I was told by another mom while Emma was in the eating disorder partial hospitalization program a great example of the meaning behind the importance of self-care that will be forever engraved in my mind. She said.... "life as a care taker is like a flight attendant's safety instructions when you board a plane. You know, those instructions that everyone ignores...too busy with the other details of life...checking emails, sending texts, checking in on social media...etc. etc. etc. In case of an emergency and the oxygen masks fall the attendant tells you that if you're traveling with a child to put your mask on first before you put it on your child."
WAIT...WHAT?!? This goes against everything within our nature not to take care of our child first or anyone first for that matter...but the consequence on a plane is obvious. If you're passed out from no oxygen, you can't take care of your child....you both die. Self care is not selfish...it's a necessity.
Whether you're a caregiver, receiver of care, or just a human interacting with other humans...self-care applies to everyone. No matter what your life's journey looks like. It has been a LONG time that I personally have struggled with the concept of self-care. Yes, I'm learning to practice what I preach for self-care. It's easier said than done. I'm a work in process, but I'm proof if I can implement this concept anyone can. Emma's monthly self-care journey subscription boxes in her store are a great way to start. Little examples of what we've found to be helpful...hopefully we can help you too.
Fight or Flight
Why has self-care become such hard concept for us to adapt into our daily lives, and instead we seem to live fearfully and over-stressed? It's important to understand how your body and brain work together, and understanding helps make the adjustments in your life that best fits you. One of the main reasons self-care seems to be put on the back burner of life is because we live with our brains in fight or flight mode.
Your body's fight or flight response is your body's response to threat or danger. During this reaction certain hormones like adrenaline and cortisol are released, speeding your heart rate, slowing digestion, constricting blood flow to major muscle groups, and changing various other autonomic nervous functions. This gives the body a burst of energy and strength. Originally named for its ability to enable us to physically fight or run away when faced with danger, like running from a saber-tooth tiger. It’s now activated in situations where neither response is appropriate, like in traffic, during a stressful day at work, or dealing with chronic pain and illness. When the perceived threat is gone, systems are designed to return to normal function via the relaxation response, but in our times of chronic stress, this often doesn’t happen enough, causing damage to the body. We are so busy trying to "fix and solve" problems, situations, and other humans that we get stuck in a doing-mode. Our minds and bodies are in a constant fight or flight response.
So how to we switch this off...we must try to switch from a doing-mode to a being mode. We must be present, be mindful. You will continue to have difficult days....a lot of them. Practicing self-care allows us to practice self-compassion. Be compassionate with yourself, but be aware of your responses and it's effects on your complete self. Don't label your emotions as good or bad....accept them, all of them. Cry when you need to, laugh when you can, and love often.
Welcome to my daughter Emma's medical journey blog. Read updates on Emma and helpful tips for researching and coping with a child with an unspecified, rare genetic disease living in chronic pain. Click on the ABOUT tab to see how her journey started.