Friday, May 31, 2019

Answers for Allison, another rare disease for our 1 in a million girl.

We are home!!

Thank you all so much for your prayers, positive thoughts, and well wishes. We had the best trip to the Mayo Clinic and are home with answers and direction.

The doctors knew very quickly what was going on with Allison during her initial exam, we were able to get a diagnosis in the first visit before any additional tests were done.

Allison has a very rare autoimmune disease called Juvenile Dermatomyositis with Myopathy and Arthritis. 

She got an IronMan sticker after her diagnosis because she's pretty rock star like that!
She is our 1 in a million, literally. 

Keep in mind that we are learning with this as we go 😊 I’m listing here technical info followed by how this impacts Allison info and of course, where you can learn more and if you’d like to donate to help cure JDM, I have that for you, too. Along with some super crazy similarities between this and our FX world.

Before I start, I want to say we were blown away with how amazing the Mayo Clinic was. Every single person there is friendly, helpful, and they truly are the best of the best. Lifelong family friends, Dea and Neil Curry, were there as we were and took us on a couple hour tour of Mayo, the shops, tunnels, and skywalks. This was huge for us and helped us not only learn the ropes but calm our nerves before our appointment. I truly appreciate their time, kindness, encouragement, and friendship.

Someone is always playing, patients, doctors, staff... it's beautiful!

 Allison met with both a fellow (Dr. Catalina Sanchez Alvarez) and her new specialist, Pediatric Rheumatologist Dr. Amir Orandi – both were friendly, positive, encouraging, and flat out amazing. They never rushed us. They LISTENED to me. Truly listened as I told them everything. They answered every question and offered to meet with us again before we left so we left with the best understanding possible (while feeling a bit overwhelmed) and had already reached out to Allison’s local doctors with details of her diagnosis, treatment, and letting them know they are there to answer any questions and always available to us and them. The patient educator who taught Allison (and me – everyone else in the room already knew how to do this) how to give her injections was amazing, too. I cannot say enough about the Mayo Clinic staff to truly cover how special and incredible they are – but I will keep trying to because I want to shout it from the rooftops.

Allison and Dr. Orandi

Also - they have the coolest floors in Pediatric Rheumatology!! (see pics below!)

I did not know going to Mayo Clinic was an option. To say I was frustrated with local doctors and specialists is an understatement and they have seen the Momma Bear side of me as I pushed for more and more tests when they had given up. I give them a lot of credit for dealing with me and the doctors at Mayo stressed that they were not surprised that the diagnosis was missed because it is so rare to come across. Especially her general doctors – this is not something they would see but just like Fragile X we plan to help them learn and hopefully help others walking in our shoes.

We only ended up at Mayo Clinic because Jen suggested it. I, honestly, did not know it was an option – or that they did more than cancer treatment. If you take away anything from this, please take Jen’s knowledge 😊 If you cannot get an answer locally CALL MAYO and go. Everyone can. For us, we were extremely lucky as pediatric rheumatology is hard to get into – Allison was only accepted because she was seen by an ADULT rheumatologist who was not specialized in children and did not give her a diagnosis (other than saying she was malnourished – do NOT get me started on that, lol). In hindsight, I’m thankful he did not diagnose her with arthritis, or we would have stopped looking for answers and the long-term damage that would have been done to Allison’s internal organs would likely have not been reversible. Pediatric rheumatology is one of the few departments that is harder to get into – most are able to easily get you in. PLEASE know YOU can go to Mayo WITHOUT a referral. If you are struggling to find an answer, call them. And if you see Jen and want to hug her or thank her for speaking up and making this suggestion to Scott and I – please do. I will forever be thankful that she did. While I have already thanked her a hundred times, it doesn’t feel like enough.

And my mom – seriously. She is the person who always listens to me and was the first to say there 100% was a connection between the rash on Allison’s eyelids and what was going on with her joints. I was persistent in pointing it out to the doctors and they completely blew off the redness of her hands and eyelids making me feel a bit crazy (this was all so reminiscent of searching for an FX diagnosis) but my mom stood strong that there was a connection – and there absolutely is.  I appreciate that she took the time off work to go with us.

Scott, Jen, and I (and my mom) all were at Mayo with Allison. This is how our family works. We do everything as one. Like everything with our family - we are all in this together and all love and support Allison. I’m thankful that this is our family dynamic.

Juvenile dermatomyositis (dur-muh-toe-my-uh-SY-tis) (JDM) is a disease in children that causes skin rash (dermato) and muscle inflammation (myositis), resulting in weak muscles. 
JDM is a type of autoimmune disease. The immune system is a group of cells that protect the body from infections. In autoimmune diseases such as JDM, these cells fight the body's own tissues and cells, causing inflammation and, in some cases, tissue damage. 
JMD affects 3,000-5,000 children in the United States – on average there are only 1 – 3 diagnosis for every million people per year.

JDM is a treatable disease, there’s no cure for dermatomyositis, but periods of symptom improvement (remission) can occur. JDM. Most children go into remission within two years and may have their medications eliminated.

However, some children may have active disease longer than two years, and some may have more severe symptoms than others.

Some children with JDM can have repeat episodes of the disease or may have the type of disease that does not easily respond to medications.

It is impossible at this time to predict how your child will respond. The most important thing is to take all the medicine your doctor prescribes and perform physical therapy.

This is not contagious. Her rash is not contagious. Nothing about JMD is contagious.

Despite the challenge’s children with JDM and their families face, the majority of children grow up to lead an active, productive life.

We have known that Allison has been living with significant pain. While we thought the pain was joint pain, it turns out that in addition to the joint (arthritis) pain, there is also significant muscle pain. If you’ve ever watched Allison try to get up from the floor, you know this is a near impossible task for her. We thought it was due to the joint pain, but it turns out this is due more to the muscle weakness. Allison is moderately to severely impacted by JMD. Her muscle weakness is significant which explains why she is so easily fatigued, her weight loss and loss of appetite.

Sun exposure makes this disease way worse. We must keep her covered and soaked in sunscreen. She is not to be in the sun from 10 am - 2 pm if possible but know at times she will be. We just have to be extra precautionary and observant of her during those times. We will be adding an SPF additive to our laundry to help provide more protection in all of her clothes and getting some sun protective long sleeve summer clothes and hats for her. *Allison is personally thrilled that she has permission to wear jeans and long sleeves or sweatshirts year-round* for real. If you know her you know this is basically her entire wardrobe already!

He started her on a high dose of prednisone that we will taper down on but she will be on long term and weekly methotrexate (the chemotherapy drug at a very low dose) injections which she has been taught to give herself.

She has lost 20 lbs in the past 2 months because of this disease, the prednisone steroid will put that weight and likely more back on her. The methotrexate will likely make her sick for the first couple of days but if that continues they will prescribe her Zofran to help with that.

Her immune system will be very low so we need to keep her away from anyone sick and be sure she always washes her hands and has hand sanitizer with her always. I’ve offered to buy her some cool face masks to avoid icky germs 😉

There is a more aggressive treatment regime if this doesn't help we can try if this does not work but 2 days into the prednisone she is already feeling improvements and we have complete faith this is going to be good.

We will be back at Mayos in August and then every 3 months for 2 years – after that, we will know more and how to proceed.

In 2 years when this treatment is finished either she will go into/be in remission (best case) which could last years or months... Or she won't go into remission. If it doesn't she go into remission she will be on treatment, continuously, her entire life.

Her heart and lung images were very good which is very good given how severe and advanced she is – this was a huge relief to us all.

We have a lot of crazy blood tests but all should even out over the next several months. She will be getting poked a lot over her life just to be sure everything stays in check BUT this is treatable so it is all worth it as her quality of life should return to “normal” (whatever that is, lol).

Within a couple of weeks, she should be significantly better with this treatment and back to herself which makes us all super happy! She’s happy to know she will be doing better for her trips in June (one camping with Grandma Colleen and one to Florida to see Grandma Paula) and we are all relieved she will be in much better condition for band camp!!

I'm sure I'm missing something but tried to cover as much as I could. It's been an emotional couple of days and we are all a bit exhausted.  Our sweet baby girl now has 2 rare disease diagnoses <3 We always knew she was very special.

Thank you so much for your prayers and thinking of her! Thank you to ABG, Uncle Randy, and Jeni along with Rylee and Michale and the Advanced Rehab staff for keeping Parker on track, in routine, and well loved and cared for. And my pets <3 We appreciate and love you all.

1: The next CureJM conference is in Chicago (in June – it’s going to take a lot of people helping me and everything falling into place but I will be doing all I can to be able to go).

The first Fragile X conference after our diagnosis (but we did not attend because we did not know about it) was in Chicago. :-O

2. The co-founder of CureJM is a mom, whose son was diagnosed right before his 4th birthday.. his name is Parker. This diagnosis led her to be an advocate and champion.

My Parker was diagnosed with Fragile X right before his 4th birthday. :-O This diagnosis led me to be an advocate and champion.

3. After our Fragile X Diagnosis, we saw Dr. RANDI Hagerman (who we love, love, love!)
Allison’s JMD doctor is Dr. Amir ORANDI (who we love, love, love!)

 Crazy, right?!?


CureJM  We think they will love us <3  If you would like to make a donation in Allison’s honor – please donate to them <3

On the 16th floor outside of Pediatric Rheumatology 

16th floor views


  1. So glad for answers! And crazy how the auto-immune diseases present so similarly - those symptoms and treatment are very close to what I had when I was given a lupus DX over 25 years ago....

    1. We are too! Yes, so many similarities! Hope you are doing well with your Lupus.