Ordinary Miracles

I've been trying to write this blog post over the course of four days - but more and more amazing things keep happening - so I've edited this many times.  Sorry if it is a bit longer than normal - there is just a lot going on.

After connecting with some of the other amazing  Krabbe Families, a few suggestions came to start a Facebook page to help spread awareness - so being that I am very familiar with social media, through my work, I decided to launch Miracle For Max.  I'm absolutely overwhelmed by the response - and it is all due to other Krabbe Families sharing the page with their own supporters.  Thank you for taking the time to follow our story...for all of the well wishes, prayers and support.  We are in the earlier stages of this disease from the looks of it, and we are grateful to have such a strong "team" uplifting our family in this time of need. Thank you.

I also wanted to share a few other pages of the families who have reached out or we've been following (I know I'm missing quite a few in this list).  Please take the time to say a prayer for each of these families and their little ones.  They need strength and support just like we do:

Hope for Hannah - Please uplift this family who just lost their sweet Hannah Bear to Krabbe on Dec 28th.  They helped in getting Krabbe added to the New Born Screening in PA.  Hannah's mom has just been awesome to me - even with everything she is dealing with right now.
Addilyn's Journey of Hope - A brave little girl whose health has been up and down recently - she needs extra strength and seems like an absolute sweetie.
Love for Lily -  A little girl out of MD who has had a stem cell transplant procedure and is doing well. She continues to provide hope for many who have this disease or who are diagnosed.
Baby Reesa Foundation -  This family is in our hometown who is pushing for NBS testing in AZ. They have a bill through to the decision makers. They also just recently welcomed a baby brother for Reesa who is Krabbe free!
Marshall's Mob - Promoting NBS awareness nationwide but out of OR.  Marshall has Krabbe - his brother Michael was tested for Krabbe and had a transplant at birth - so far no signs of Krabbe. Just another reason to get Krabbe added to New Born Screening programs.
Hope for Blaine - A little boy from OH who was diagnosed at 16 months - however it took awhile to be diagnosed (similarly to Max). He is such a cutie.
Embracing Emma - a little girl diagnosed but went through a stem cell transplant in OH and is doing really well. Another reason to get that New Born Screening in each state.
Miracles for Mabry Kate: A family out of TN with little girl Mabry Kate - this family needs lots of prayers and support.

Thank you for taking the time to support them as you are for us.

An update on Max.  After connecting with a lot of families, we are in the process of trying to get out to Pittsburgh to meet with the doctor who is the expert on Krabbe, Dr. Maria Escolar.  So many of these families reached out and asked...have you seen her yet? Apparently this seemed the right direction instead of just waiting for test results and DNA sequencing to come back so I reached out last week.  I'm hopeful that we can find out more on Max's current condition, options and how to help with some of the things that make him very irritable.  It is a shame that the doctor's at PCH didn't even provide this information to us.  We could have been on our way to getting more information by now.  I was told they would reach out to find medicine etc.  that was working well for these Krabbe kids but they hadn't heard back from the doctor (and I believe they said they were going to contact Dr. Escolar) - well that was a month ago and haven't heard anything - let alone get a call back. So I reached out on my own and within ONE DAY, I got a response and a lot of reassurances from Dr. Escolar's team. It just shows that these kids are stuck in a medical system that thinks there isn't much hope - keep them comfortable and send them home to die. It sounds harsh - but that was the news and the message that we received from the doctors who diagnosed him.  Time is of the essence with this disease and it upsets me that all we continue to do is wait for these doctors to get answers. I can't wait anymore - we are pushing everywhere we can to get some more info. I know I'm venting a bit here - but I think it is for good reasons.

I do have to say and highlight that even though our pediatrician has never treated a patient with Krabbe - she is our advocate and is doing everything she can ( bugging everyone she can) to help us get answers - I'm so incredibly grateful to have her on our side and so fortunate to be linked with her. She wants the best for us and has just been amazing. I'm hopeful we get an update next Monday from Dr. Escolar's office on when we can head to PA (doctors actually take vacations?!? We caught them on a bad week for us with them being out) - but we are ready to go when we get the green light.

In a previous post, I mentioned that maybe we shouldn't advocate for early New Born Screening based on the doctor's message to us who diagnosed Max.  There may be research out there to tell me otherwise - but I have changed my tune significantly.  There are many cases where Krabbe was detected early and there was an option for a stem cell transplant with success! If we were told early that Max had Krabbe - our story may be very different at this point in time.  Why not test if there is treatment?!?! At LEAST give us the option and the information so we can make a decision if he is diagnosed!! The Krabbe families here in AZ have already gotten a bill passed to at least have the Director of Health take a look to see if they will add Krabbe to the NBS - I have since written an email with the same message - add Krabbe to AZ NBS and told them our story - I hope it helps. There should really be early testing in every state - especially since there has been a lot of success in these stem cell transplants so far.  I'm hopeful they will include this in our state in the near future.  It shouldn't matter where a child is born to have the option of transplant.  I know it is a rare genetic disease, but time is of the essence and if not caught early there is essentially no hope.

Max ended up having an ear infection which has since been treated, and he has been a much happier guy the past few days.  He's been giggling more and has more energy. It has been great for us to enjoy these simple moments with him.  With our daughter, Emma, and Max we've been dancing, singing and having lots of tea parties - time that is well spent with our kiddos.

The hardest part for me to contemplate is how Emma will handle all of this (she's making a picture for Max in this photo).  It will be so extremely hard for Josiah and I but for a little girl who loves her brother so much - I just have trouble writing about it. We passed a car crash on the road the other day on our way home and Emma asked me what happened.  I told her someone was probably going too fast and needed to slow down.  I hoped everyone was OK and that's why we have to be safe in the car and wear our seat belts, etc. etc.  She told me the crab got them.  I had no idea what she was referring to, so I asked her to repeat herself and she said the same thing but added, "The crab got them, like it got Max."  I was brought to tears. She's only 2 1/2 but clearly understands more than I think she does. I worry the most about her through all of this. Her "normal" has certainly been taken away, although we are trying to do everything we can to keep things going for her. We were able to escape, the three of us, to Disney on Ice this past weekend.  While it would have been great to take Max, it was important for Josiah and I to give Emma that one on one time because there hasn't been as much lately. It was a great time for all of us and great for Max to spend time with some other family members.

I ran across a song after we watched Charlotte's Web a few weeks ago (movies and music have been favorites of both kids as of recent) and it made me realize that I need to enjoy the Ordinary Miracles in life.  The song is called Ordinary Miracle by Sarah McLaughlin. The lyrics at one point say: 

Life is like a gift they say. 
Wrapped up for you every day. 
Open up and find a way. 
To give some of your own.

I'm trying every day to give some of my own.  And I'm enjoying these "ordinary miracles" that are given to me like smiles, play time, coos, and cuddle time to name a few.  I'm still waiting though for my EXTRAORDINARY MIRACLE.  It is just hard to stay hopeful at times.   I need to stay positive and continue to hope and pray for that miracle for Max but I'm also keeping my guard up - I can't be torn down again. This may be such a horrible outlook on all of this but it is my reality and some of the awful thoughts I deal with daily.

Thank you all for your continued support, love and strength.  You make us a better and stronger family each day.  I personally am humbled by all of this.  Max is truly here for a reason and I'm glad you are all a part of it.

~Allison

#MiracleForMax

Bring on 2015

I've been sitting here reflecting on the past year.  While there have been more trials than I've ever experienced, I'm also very grateful in a lot of ways.  The fun, family, friendships, love, and hope had been great. We still are here with the people we love and surrounded by more family and friends than ever before.  I gave birth to the most beautiful and perfect baby boy this year. ..so grateful to have him as a part of our family.

I started following a Facebook page for Hannah...a little girl with Krabbe...who would have been two January 15th and she lost her life this past Sunday to the horrible disease.  I read about her family's experience and it sounded really tough...live in nurses...breathing tubes...she couldn't open her eyes...didn't want to be held. I'm praying for this family because I can't imagine going through it...but it seems that it will soon be my reality.  I just keep praying for strength and hope.

Emma and Max were both sick for Christmas.  All of the fun family get-togethers we had planned were cancelled for us.  Josiah and I were so bummed but I think the kids were fine with it and didn't know any different.  We did make it up to our family cabin the day after Christmas and Emma got to play in the snow.  It was fun but also exhausting. ..Max barely slept. He hasn't this past week.  I'm lucky to have some time off of work to catch up on sleep and work with Josiah as a team to keep our sanity through the nights. Poor buddy lost his voice...too much crying with a cold. I feel for him. I want to take it away. But he's still eating from his bottle...still laughing. ..although my ticklish little guy isn't ticklish anymore. He's still cooing at Emma...loves peek-a-boo...watches tv...loving the colors...likes listening to books...can hear. ..can see....wants to be held every minute which is tough but a blessing to be able to cuddle with him. I'm grateful for all of that.

We trekked to Phoenix Children's yesterday for blood work.  They are going to do dna sequencing to figure out what mutation is causing all of this... Also so that we know what to test Emma for. The last time they drew blood it took an hour to get it and they almost had to draw from his head but luckily found a vein in his hand. This time they called the IV specialty  team right away because they remembered him.  It took all of five minutes...thank goodness.  He cried longer just about being on his back than actually getting his blood drawn.   Now we wait...4 to 5 weeks for answers.

Josiah and I celebrated our 7th wedding anniversary on Monday.  We've been together for 13 years. We got to escape for a movie and dinner and it was one of the few times we weren't too tired to talk.  We both are feeling a lot of the same emotions...having some of the same concerning thoughts.  He's my rock and we need to talk more...it was hard to see a sweet baby boy about Max's age sitting near us...looking and smiling at us.  Sitting up on his own...it took everything in me not to start crying. ..happy anniversary. ..the focus continues to be our kids but it's hard to be brave for them.  We both agree however that we know we have to remain strong to help each other. I'm so grateful for this man every day and love him unconditionally.

Thanks to all of our family and friends for spoiling our kids this year. I think we can open our own toy store and library :-).  Your generosity, love, prayers and support are more than we deserve or could ever ask for and are so sincerely appreciated.

I'm ready to bring on 2015. While I know there are many obstacles ahead...I also know there will be a lot of smiles, fun, laughter and good times.  We continue to appreciate the simple things in life and live in the moment.

We wish you and your families a very happy new year and wish happiness and good health for you all.

#MiracleForMax

Changing Lives

Someone posted this quote on their social media page a few weeks ago and it really moved me:

There will always be a reason why you meet people. Either you need them to change your life or you're the one who will change theirs.

This is my new favorite quote and something that I truly believe. We have a lot of people changing our lives -  There have been some people recently who have shared their personal experiences or shared miracle stories.  There are others who know people that are somehow linked to all of this and others who have provided continuous support in various ways.  Sometimes the purpose of your life and seeing why things happen in the way that they do aren't always explainable. I don't think we are always supposed to understand why these challenges or changes come into our lives when it seems unfair or drastic or life changing. I do know that the reason that each of you got to where you are today is to have touched my family's life in the way that you have because we have needed the support and we very much appreciate it. You are changing our lives - making us stronger and surrounding us with more love than we ever could have imagined.

When I lost my mom so unexpectedly 7 years ago to a heart attack - I had no reason for why this had happened.  Why was her time up? I needed her here with me - for me, for my dad, my brother, for the so many people who were around her.  At the time, I didn't get it and I still don't entirely.  She was 53 years young. And it was tough. It IS still tough.  BUT in seeing the glass half full as I always try to do in my life...she helped bring a lot of people back into our lives that we had been missing - who are here for us now.  There are new people who are in our lives and supporting us more than we could have ever asked who may not have been in our lives as strongly as they are now.  Loss is never easy - I would ask to have my mom with me every day, but in a way - there was a lot of good that came out of the situation.  It's made me a stronger person because of it.  There may be a greater purpose for all of this.  I don't know what it is and I don't like going through this but that's how I'm trying to look at it.

We got the results of Max's DNA test back. We found out that the common gene mutation is not what we've passed to Max.  Of this rare disease...we have a rare mutation...really? So we go back to the lab and get more blood drawn and listen to our poor baby cry.  Then we wait for 4-5 weeks for the specific dna makeup...close to his first birthday.

The holidays have provided ways for us to get out and enjoy friends, family and different events around the valley.  There are some days that Max cries just to cry and other days are better and he cries because of separation anxiety like a normal ten month old would.  Emma has loved the lights and all of the fun.

We are still adapting, learning and loving each day and doing the best that we can.
Thank you for supporting us and helping us through this time. Your positive light and love can help do amazing things and we feel all of it. YOU are changing our lives...as is Max...in so many magical ways.

Laughter

Laughter is so important and something that I've continued to do through all of this, just laugh.  Don't sweat the small things and enjoy the simple moments.  We have our emotional moments - some worse than others...some where we just break which I think has been healthy.  Other moments are wonderful and we are cherishing these .  Yesterday it was as simple as looking at Christmas lights or playing in my daughters room with Max - he just adores his sister and watches every move and coos to get her attention.  Also the ABCs...Max doesn't like to be on his back for any reason...so during diaper changes I try to distract him by singing or making funny faces. The other day it was ABCs and I used goofy voices and faces (I think I get that funny gene from my dad).  At the end of the song I asked if he wanted me to sing it again and he laughed at me - so I did it again and asked if he wanted me to do it again - and he laughed.  Small moment to some but amazing to me. He wasn't crying, he wasn't in pain...it was just Mommy and Max time and I loved the 5 minutes that we shared before something else changed that.

The hardest part right now is not knowing what's wrong when he cries.  Is he testing me like a normal 10 month old would be?  Is he teething?  Is it gas?  Muscle spasms? What can I do to help and what is wrong?  And I don't know.  Holding him has been key and I treasure this time with him, but it is also hard to hear him cry if I have to put him down. I still talk with him if he's not in my arms - hopefully that is enough to cook dinner, get dressed etc. before I swoop him up again and make him a happy baby.

I can't express enough how much we value your time...your messages...your stories...your personal experiences that you have shared...your gifts...your thoughts...your generous offers...your support...your prayers.  They just mean so much and if I haven't reached out to everyone, I apologize - there is just an incredible amount of people that we have supporting our family and cheering us on.   We value it- whether near, far or a distant friendship, we still value it. We are loved and we are blessed - that is all we can ask for. Thank you.

One update I wanted to share after talking with Max's really intelligent genetics doctor at Phoenix Children's Hospital is the awareness of this disease.  I was initially shocked when I heard that only 2-3 states were testing for this in a newborn screening...why hasn't the word been spread...why aren't more states taking advantage - it shouldn't matter where you live to be tested!  I guess there have been some false positives with this test - parents thinking that their kids will go backwards in development and then it never comes (which was my hope in all of this but his development is deteriorating).  That would be difficult as well - how do you embrace that news and adjust your lives based on what you think may happen, based on a test that you trust - I guess you can't.  You need to take it a day at a time and continue to live in the moment - easier said than done...but something I am striving for every day. It was the way I was brought up and taught to live life...and now it has even more meaning. 

Along with the false positives is the treatment.  There really isn't a good cure or any kind of treatment.  The best chance is looking at stem cell or bone marrow transplants before the symptoms even occur but even in some of these cases, from what I've heard, there hasn't been a ton of success and the success is a longer life but not necessarily stopping the regression in development. I'm still learning so I could be wrong here but again what's been communicated to me so far.  There is research being done to inject these missing enzymes directly into the patient but it is still far from human trials - HOPE - again.

We get the results of his DNA test hopefully by the end of this week or early next week which should be the confirming factor for us.  Still searching for my miracle but trying not to dwell too much on the results.  From there we are looking to get Emma screened just to be sure she doesn't have a later onset of the disease which is highly unlikely (different gene mutation from what I understand) but this test and screening would give us peace of mind. And if she does carry it, this would prepare her in case she is blessed with children in the future.

We are so looking forward to the holidays and the time with our family and friends. Escapes to the snow...looking at lights...get-togethers...laughs...time to spend with all of you.  It will be our best Christmas ever - I'm convinced.  And I think the kids may be just a tiny bit spoiled this year...but you know what...that is just fine.

Thank you

I am more inspired and touched by how many people have contacted us.  You have no idea what it means to have the amount of support, love and good thoughts coming to our family. Family. .. friends. .. co-workers... neighbors. .. friends of friends. .. thank you all for your kind words, messages and actions.  It means more to us than you will ever know.

We found out that they are doing a dna test for Max at no charge because they want to just confirm this to be true.  Our glimmer of hope is here but he is showing a lot of the symptoms of krabbe. 2-4 weeks for these results.

We've had the support of our work places to take the week to comprehend this, and so we have tried to do things with the kids.  Lots of walks. .. outings. .. things to get is out of the house so we can breathe. The aquarium was a nice treat for the kids today.  Both of them enjoyed it.


We were talking about the crazy year we've had.  Josiah's mother was shot at on a freeway with a random act of violence a week before Max was born. Thankfully only her bangs were cut by the bullet and she was fine. Anyone else sitting in that seat wouldn't have had a chance.  Max was born on Feb 6... the same day my mother passed away seven years ago. My mom was with me on that day. ..I truly believe it.  The crazy parent that I am... we took Max to the er on the 4th of July thinking he may have whooping cough. .. turned out to be a touch of bronchitis.  Emma was in the hospital after a 5+ min seizure. ..febrile thank goodness.  Josiah was dehydrated and in the er in the fall. And then after Max's 9 month apt we rushed him to the hospital after recommendation from his phenomenal pediatrician which started the search for all of this.  I'm ready to say good riddance to 2014 but I also know that each of these situations prepared us for where we are today.  While it is not easy by any means sometimes these events can prep you in ways you never thought it could.

The other part of this which is just so crazy is that my brother is researching something very similar in his lab right now to get his phd.  It's not the specific disease but rather how certain things in our body work together to create some of these responses.

There is something much greater than I can comprehend in the works. Too many coincidences.  Everything happens for a reason no matter how hard it may be.  Max has already touched so many people with his incredible spirit. Even if his time on this earth is shorter than many. .. he has already touched my life in so many ways for the better.  That being said,  I still have a lot of hope for some medical breakthrough or miracle.

Each one of you have touched our lives with your incredible spirit and love.   Thank you for all of the support. They say it takes a village to raise a child. ..I have an amazing one influencing and supporting my children's lives. Thank you for being a part.

Miracles

I have to admit this is hard. .. hard to look at pictures of kids who are growing and developing perfectly.  Getting through milestones Max should be at.  I can't help but be jealous but I'm grateful for each of you and happy for your kids.  I just find it hard to see what Max won't get to do.  I'm trying to turn those thoughts around but it's been hard.
However the outpouring of love, support, prayers and kindness has been amazing.  I knew we had a strong support system but this just goes beyond what I ever thought possible.  I appreciate all of it.  We couldn't get through this. .. comprehend this. .. without the support.  It is why we decided to be open about this.  Not to gain everyone's sympathy but to help raise awareness and to remind those around us that life is precious and to be thankful for every moment you have.
Tonight was tough getting home.  Max gets so irritable at times and needs to be held to calm down.  Once we made it home from the long car ride he sat on my lap and just watched Emma. He adores her so much. He lights up when he sees her and laughs at what she does.  She's such a good sister to him and loves him unconditionally.  We got some amazing pictures of the two of them. Just made my heart melt. It completely turned his irritability around.  He wants to be happy but just aches.
I love my little boy so much. He's just the sweetest.  Everyone tells us he has the most piercing blue eyes.  It's those little laughs and smiles that I'm holding onto.  And pictures. .. Lots of pictures. He's still able to do a lot and I know it will get harder so I'm grateful for what we have now. I'm reminding myself to live in the moment and not dwell on the future.
And I'm still believing in miracles.

KRABBE

Writing is my way of getting through this.
It is something that I need to do to stay sane.  Thank you for reading and helping me get through this and fighting for hope for other families going through what we are.
Yesterday my husband and I found out that we carry a horrible mutated gene that we passed along to our son. Our kids have a 1 in 4 chance of getting this disease.

Max was a normal boy at birth. Learned to sit and roll over.  He babbled and had the best smile... the most smiley baby I've ever seen.  But suddenly he lost the ability to sit at about 8 months. ..lost the ability to hold his head... to stay smiling.  He became more irritable and something was wrong.

After a hospital stay and numerous tests we've found that he has Krabbe Disease.  A horrific disease that if not caught at birth is basically a death sentence.  Only 2 states even test for this genetic disorder at birth. If a child is born with it and it is caught in a newborn screening they may have a chance for treatment. .. for a full life.  I've found that the life span is 2-7 years. .. Max is 10 months on Saturday.
He will lose motor functions and potentially lose his sight, hearing and the ability to eat.

So many thoughts have raced through my head.  Why us?  Why him? Did I do something wrong? Could I have done something better? How can I help him? How can I survive each day? How do I support my husband?  How do I support my 2 and 1/2 year old daughter? Is there hope?

I have to think there is some glimmer of hope or I have nothing.  I truly believe everything happens for a reason.  That spirit chooses a family. Emma and Max are my world.  My bright light. .. my everything. They chose me to be their mother and I owe them the best possible life I can give them.

At first I felt sorry for myself.  For Emma... for my husband. .. for Max who has to suffer through this. Now I have been taking it a day at a time.  I can't change what is but I can change my outlook and love my kids and husband as much as I can. I can help in the fight to get this disease taught to more doctors and fight for the testing to be done in every state.  I can show Max the world while he can see it and enjoy the simple things in life that I've missed.

We are undergoing some more tests and things to make this little man as comfortable as possible.  We're also planning to reach out to the other families going through this for support.

Keep us in your prayers and good thoughts and help send positivity our way.  I'm letting my love radiate to my family and others. HOPE AND LOVE are getting me through each day.