I have recently met another family with a sweet little girl just diagnosed with Gaucher’s type 2.  Like Addy and Olivia, I have really become attached to her adorable smile and touching personality.

Meet Stella, her mom Kara, and her dad Dave.

Our nurse had left early on Monday, so I spent Monday afternoon cuddling with my Little Miss Hannah.  I didn’t mind one bit.   Then I was watching the Oprah farewell surprise show, and when Rascal Flatts came on to perform their song “I Won’t Let Go,” I found myself bawling.

When I first heard this song months ago, I had always felt a huge connection to this song.  Almost as if it is my promise to Hannah that I will always fight for her, even when she is tired of fighting.

Daddy and I both have seen a pretty drastic deterioration of Hannah’s condition in the past few months.   She doesn’t crawl anymore.  She can’t control her hand movements enough to even work the special needs apps on her iPad.   Her strength and tone has significantly deteriorated to the point where she only feels “safe” lying on the floor or being cuddled.  She doesn’t feel very comfortable even sitting in her therapy chair these days.

She is just so very weak these days.  I don’t know what is causing all of this.   Since the decrease in Klonopin, we have seen Hannah become more alert and smile more, which is wonderful.   But she has no energy or confidence to do any type of activity anymore.

It is heartbreaking to see my little girl like this.   I have been having horrible thoughts about the “what if’s” lately, and it scares me to death.

I’m trying not to dwell on this and enjoy every day with her.  I am so thankful that I can still make her smile, grin huge, and just give her all the love that makes her happy.

I am just scared of what the future is going to hold for her…for us.

I’ve mentioned him a number of times over the past year.  He was Hannah’s therapy friend in Texas.  His mom has been a huge support on so many levels.  Many times when Hannah had PT at Texas Children’s, he would have OT (we had the same OT).  He was an adorable and sweet boy who dealt with his medical condition (mito depletion syndrome) better than anyone I ever knew.    My gosh, the pain this boy suffered due to his conditions, yet still just wanted to play with his duckie and his toys.

My heart is breaking right now.  There is a bit of me that is relieved that he is no longer in pain, but it had to come at the cost of him leaving his parents and three siblings as well as an entire community that loved him.

I keep going back to what a good friend said to me after her son passed away.   That now he can run and play and is not held back by his broken body anymore.   I find myself repeating this mantra so often during times like this.  Maybe it has become my way of dealing with it so it hurts just a tad bit less.

They just got back from the Disney World Make-A-Wish trip.  I keep thinking, thank goodness they had that time together to make those amazing memories.   Once in a lifetime memories and pictures that will always be cherished.

Cooper Knight.  I picture him running, driving his jeep, playing in the clouds with one of his best friends, Samuel, who passed away in September.

Where I wish I could be right now...

Sometimes I tell myself that I would be better off talking to a therapist about the things going through my head. But then I tell myself that I already know what the therapist would say. It is not that I need to talk things out, I just need other things to fall into place.

This past week, I have been going through a lot of issues that seem all be weighing me down — jealousy issues, frustration issues, disappointment issues, anger issues, fear issues, etc…major reality check, in what seems like, all areas of my life. These issues are taking the forefront in my mind, and it is really bringing me down. It isn’t just related to Hannah’s condition, although it is a good-sized portion of it. It seems to encompass so many different areas in my life. Much of it also sprouts from our financial instability at this time.

I don’t do the “why me” thing. It is more of the “I just don’t get why it is that…” thing. Similar, probably. But not exactly…at least in my mind.

Admittedly, I am just not a happy person these days.   Heck, I have not been a happy person for most of 2010.  There are certain things that I hope that once Daddy finds a job and we have an income that is more than our expenses that other things will come into a better light. There are also certain things I know that I will never understand “why” or “how come.”

I’m in my early 40s now, and my life is passing me by. I want to start to have fun again. I want to want to feel like a woman again (because right now, I am last on my list). I want to have some freedom to do the things that I love to do – scrapbooking, theatre, going to events. I want to have a job that I am truly passionate about and love to do, not one that I have to accept because we need the money. I want to have some sense of normalcy in my life. I want to not dwell and get depressed on why certain people are the way they are.

I want to be a better mom, better wife, better friend…a better me.

I want to be happy again.

I keep telling myself I need to “get over it” and move forward. But I feel hopelessly stuck — There are just too many things I need to work on. I feel like there are just too many strikes against me — some I brought on myself, some brought on from the outside. I know better too — but it is almost as if there are too many things to try and change that I don’t know where to start, so I do nothing.

I need life to cut me a break and give me some hope.   Give me some good news that will help get our family back on track.   Something that feels as if we are going in a positive direction finally.

I just need some help getting those first steps taken so I can move forward.

She recently spent her first birthday in the hospital getting a trach.  If she did not get the trach, she likely would not be with us today.  

This disease is so horrible.  I could share more about Olivia and her mom’s fight for her, but with her mom’s permission, I will let her mom, Melissa, tell you herself. 

Over the past few months I’ve been posting positive thoughts, pictures of Olivia peaceful and smiling- and all of that is True… only its not all the time. I know that most of you understand the complicated reality that is Olivia’s life.

Recently I’ve found myself reaching again, attempting to make one more “Hail Mary Pass,” calling scientists at my job- maybe they might have something for me, and hopeful that there will be a miracle… maybe there will be. I have my mom setting up a Novena to Terrence Cardinal Cook- many of you have been praying for his intercession already… but I think perhaps a more organized attempt might work. I will let all of you know when/where that will be- if you are not Catholic and do not believe in organized prayer or intercessions- I ask that you just pray during the same time as the novena for a complete healing of Olivia and a cure for Gauchers.

Reality though, if there is not a miracle Olivia’s life will be cut much shorter than any of us had expected. Every day now I am hit with something- albeit a drop in O2 sats, a blue face out of nowhere, a fever, hand and leg tremors, spastic episodes. For those of you that may not understand what I mean by spastic episodes I will explain.

As a result of Olivia’s central issues, her brainstem is not functioning and is triggering episodes where her body completely tenses up (think charlie horse all over) causing her back to arch, and all of her extremeties to become so rigid she can’t control movement at all, also causing her larynx to completely tighten shut- a laryngospasm- preventing her from breathing. Now that she has had a tracheostomy- the laryngospasm no longer causes a breathing issue- but you can tell she still has them.

We have her on a medication that will relax her but in the last two days its not working… last night she had these spastic episodes every few minutes or so until she finally was able to fall asleep. (About two hours) During these episodes, she cries silently, because of her trache she can’t produce sounds yet. Tears fall down her cheeks- and holding her only comforts her briefly… there is no medication, no bath, no song, no book, no hug that will make these go away.

My fears are that sooner than later Olivia will begin to have respiratory issues. Just recently she has not been able to hold her saturation while she is sleeping- no matter how much O2 we give her. She seemed ok after she had been nebulized with Albuterol- but the worry is there. Her condition also threatens her ability to breathe… as the disease progresses the brain will stop telling Olivia to take in a breath… central apnea. My nurses have noted irregular breathing patterns while she sleeps- but she has had that for some time now.

I’ve been sad lately, my mind consumed by Olivia and trying to create awareness…but as I’ve learned over the years- and especially from Olivia… Smile- Always!

I know that this may be hard for some of you- but I wanted everyone to understand that Olivia, and babies/children with Gauchers, MPS, Pompe, MS, Cystic Fibrosis… all chronic diseases suffer more than most of us that are healthy could even fathom. There is no 6 mos protocol with a 99% cure rate at the end… there is no cure, these children are sick, and they are suffering.

But through it all- if we learn anything, although they are suffering they still know to laugh, play, sing, dance, and love. Live your life to its fullest, be grateful for what you have, count your blessings, and appreciate your friends and your loved ones.

Hannah and I love you, Little Miss Olivia.

Hannah had these hyperventilation episodes when she gets upset or frustrated.  It doesn’t happen often, although it seems to be happening a bit more now (mostly when we are driving long distances and she gets antsy or when she starts throwing a tantrum).  There were also about 3 episodes where she would start choking on a piece of food (cheerios, goldfish, or vienna sausage), and she would have what seems like a panic attack and stop breathing for about 30 seconds or so even though the food has been dislodged.  During both the hyperventilation episodes as well as the panic attack episodes, we would just hold her and cuddle her, and she would calm down.
 
This afternoon, she started choking on a cheerio while sitting in her high chair (I think).  She started panicking, and she went into another one of her episodes where she starts freaking out and stops breathing and acts as if she is choking.  I wasn’t able to calm her down this time, and a few minutes into it, she started turning blue around the mouth, so we called 911.

It was just me with Abigail and Ethan.  Ethan was freaking out a bit, and Abby just sat there eating her chips almost trying to tune it out.  I felt so horrible for them, even though I was trying to act very calm.  By the time the paramedics and firemen came (a big truck and an ambulance) and it was decided to take Hannah to the ER, I sent the kids over to my neighbor’s house.  Looking back, I probably didn’t handle that the right way, but I was really scared at that point.
 
In the ambulance, her O2 sats were down a bit (I believe between 92 and 95), and she was still acting panicky and trying to catch her breath but also very upset.  The paramedics suggested we take her to the ER with lights and siren to get her checked out.  By the time we got to the hospital, she was calmed down, 02 sats were better, but she was a bit lethargic for about 5 minutes.  She calmed down completely while they gave her a breathing treatment (may or may not have helped) and came back to complete normal a few minutes after that.  Then she fell asleep for almost 3 hours there.  Chest Xray was clear.
 
The paramedic who was in the ambulance with her said it was almost like she was having a seizure, but she wasn’t.
 
Long story short, the ER pediatrician believes she has breath-holding spells with seizure-like activity based on her history and today’s event.  She also believes that because she has the weakened vocal cords and laryngomalacia, it may or may not have exacerbated this.  After reading this Webmd article, this sounds exactly like what we have been seeing for the past few months. 
 
The ER pediatrician put her on an oral steroid for three days because she was concerned about inflammation “just in case.”  Also, she believes Hannah may have croup, but she is not sure.
 
She is back to being completely normal acting now, back to her happy self with normal breathing.

I have absolutely no idea whether or not this is related to her Gaucher’s disease or perhaps it is just exacerbated by it.  Or maybe it isn’t even related at all to it, and it is just another something we have to deal with.

Regardless, because of the severity of what these spells can bring, we have had to prepare ourselves for more 911 calls and ambulance rides to the ER because of it.  We also warned Ethan and Abigail that she has this condition, and it may happen again.  We need to work on an actual plan in case something like this happens again.

I feel so lucky to have found my “one person.”  She is a mom who has a child with similar issues as we have been presented with Hannah. 

There are so many emotions that I have been feeling over the past few months, and she is the only one who I can come to completely about my thoughts, not worrying if I’m not being politically correct or not.  Just laying my feelings out there as they are — raw, naked, and the complete truth.  She gets me.  She is living the same thing I am to some extent, and she and I just have that understanding.

I think this relationship was solidified when we were able to meet in person.  She is no longer just an email address, but she is a mom who I can share laughs with about the ridiculousness of some of our situations, the fears that we both face with losing our children, and the stresses about transitioning to a special needs lifestyle from one where I was told my child probably wouldn’t live one year.

I am so so so so so so thankful for her.

For so many months, we didn’t think she would make it through her first year.  All the signs were pointing in this direction.   She presented with symptoms at birth, which is pretty rare even in a rare disease.  Almost everything I have read in the literature says that a child who presents within the first few months life rarely sees their first birthday.  Sadly, I have met families who have faced this horrible reality with this disease. 

But she is still here.  Thank god.  But why is she different?   She turns 14 months old tomorrow, and she is still here.  She is still smiling, still laughing, and still breathing on her own.   She is still growing, still developing, and still enjoying her life. 

I find myself changing my thoughts these days from not thinking about Hannah’s tomorrows to trying to prepare her for life.  All the multiple therapies each week, doctor’s appointments, procedures.  I do it because she is still here, and she is still fighting.   I do it because the specialists just have no idea what her prognosis is, which I interpret as, she is doing better than they expected her to be.

This transition in my parenting of Hannah is becoming much harder than I realized.  Trying to go from from the daily thoughts of losing my daughter every day to figuring out how to keep fighting for her and with her…it takes so much out of me emotionally.  She is so incredibly attached to me, and now I am trying to teach her some independence away from me…it hasn’t happened yet, but I know it needs to be done.

I’m finding it hard for me to realize her limitations and learning to adjust to this realization.  I see her doing so well in physical therapy, and I’m so excited that it is a real possibility that she will be walking by the time she is two years old.  But then I see how she really can’t crawl stil, no more than a few feet, and how she can’t get from a lying to sitting position on her own.  I also see the lack of development in her cognitive and adaptive behavior scores, especially in the past two months.  

My baby’s brain is diseased, a neurodegenerative brain disease.   It isn’t going to get any better tomorrow than it is today.  Sucks.

When I was given such a short prognosis for Hannah, I didn’t even worry myself about her delays, as they were not important.   Now I find myself getting depressed as I see other children Hannah’s age doing things that she is not even close to doing.  Hearing the innocent comments from strangers who see me with Hannah say things like “Oh, she must be running all over the place,” or “Is she chatting up a storm now?” just feel like daggers in my heart, yet I put on a smile face and just say “We are working on it” or “She is getting there.”  I don’t feel the need to tell the whole story to strangers.

It isn’t just her developmental delays that are so tough to deal with, it is also knowing in the back of my mind that everything could change some day soon.  Without a treatment, this disease will win.  It may not be tomorrow or next month or even next year, but there will be a point that this disease will win and take her away from me.   Without a treatment, this is just a fact.  Just even saying it here is killing me.  There very well will be the day when the other symptoms of this disease — seizures, swallowing difficulties, breathing difficulties, etc., will make their appearance known. 

I believe in my heart that if I was just dealing with her special needs that I would be able to adjust to all of this better.  But now, after writing it all out, I know that this “unknown” is what is tearing me up inside.  I don’t know what is going to happen or when it is going to happen.   Living with this hanging over my head is killing me.  

Do we have a year or two or even more than that?

It is past 1 am.  I should get some sleep.  Another big day tomorrow, 3 appointments for Hannah.  I don’t mind, I love her.

I have received about a dozen or so emails over the past couple of months asking how he has been doing since his mom posted his story on my blog. 

His dad and I have chatted quite a bit over the past few months just keeping up on our kids.   The conversations were very open and sometimes brutually honest, especially between Darren (Little Ethan’s dad) and my husband.  I was grateful for their outlet to talk to each other, as my husband needed to reach out to another dad going through this disease.

I keep thinking about what my friend, Nicole, said after she lost her beautiful son, Greyson, to Krabbes disease at 11 months old.  She said that he finally was able to leave his “broken body” and be free to run, play, and soar.   I hope that he and Little Ethan find each other and run, play, and soar together.

I don’t think I have ever had such a reality check as I did with Little Ethan’s death.  We knew him for 7 months or so.  He is the 7th child to die of this disease since Hannah’s diagnosis that I know of.  

I go through periods when I think how different Hannah is going to be and how she is going to be the one to beat this disease.   Hope makes you believe this; the alternative is not an option at this point.  But then I also think back to Nicole’s comment and relating it to “Hannah’s broken body” because of this disease.

Little Ethan, you will always be in my heart.  I know that I will never, ever forget you. 

After my vent the other day, I have received such an wonderful outpouring of hugs and suggestions.   This is why I share my heart here.   I couldn’t even begin to list everyone because I would be afraid of not being able to list them all. 

• To people like Petula and Sarah, who gave me suggestions as to at home jobs I never even knew about and definitely am looking into.
• To people like Nancy and Christine, moms of type 1 older children, who shared their struggles before there was a treatment for GD and offered support.
• To people like Melissa who offered to help with legal advice.
• To people like Larry who care for Hannah is just immeasurable.
• To people like Heather, Julie, Tracy, Manette, Kelly, Misty, etc., who travel hundreds of miles just to spend Hannah’s birthday with us.
• To people like Cassie, my sister-in-law, who is one of Hannah’s biggest advocates, who has given us so much more than I could even begin thank her for.
• To people like Dr. Bhakta, Dr. Weinreb, Dr. Schiffmann, Dr. Goker-Alpan, Dr. Sidransky, Catherine, everyone at the NGF, Kathleen at Genzyme, and other “professionals” who are involved with Hannah’s care and show such a personal interest in her well being.
• To other “special kid” moms like Karen, Melenie, Jessica, Nicole, Laura, Cristina, Melissa, Amanda, etc., who have been my personal support group, understanding what I am going through, and having them there to share the day-to-day struggles
• To my neighbors like Jill, Lauren, Megan, Tasha, Maria, Paula, etc., who always seem to be there when I need them.
• To my hubby…the best man in the entire world…best husband, best friend, just the best.

The list goes on and on.  It really does.  This is only just a small portion of the wonderful people that having Hannah in my life has brought me.