Little Olivia, Sweet Olivia. Life with type 2 Gaucher’s.

This beautiful sweet face is Olivia.  She was diagnosed with Gaucher’s Disease type 2.  I have talked about her any times on here (including my last post, I believe).   She and Hannah have so many similarities, both in presentation of symptoms and, well, they just look very much alike!  I call Olivia Hannah’s “soul sister.”   She has totally captured my heart. 

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.

First ER visit for breath-holding spells

We made it 16 months without a hospital visit since Hannah was born. 

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.

My “person”

I read an article a while back that when you are going through this “special needs/life-limiting disease”  lifestyle change, you need to find just one person who you can connect with completely.  Someone who understands your fears, your chaotic thoughts, and your many stages of grief.  It can’t be your spouse or family member, the article said.  It had to be someone else who is invested personally in this journey.

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.

Difficult Transitions

I wish someone had given me a heads-up as to what parenting a special needs child with a life-limiting disease is really like.  I wish someone would have told me about how consuming this type of lifestyle becomes.  I wish someone would have shared that tears (happy and sad), fear and hope, and chaos would become just a normal part of daily life.   I wish someone would have warned me that paranoia becomes as commonplace in daily life as breathing air.

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.

Little Ethan McKown, you will never be forgotten

I haven’t been able to get Little Ethan out of my mind since he passed away last week from Gaucher’s Disease type 2.   When his dad caught me the morning after he passed and told me what happened, it has felt like a knife in my heart.  I know my husband is feeling the same way, as it has been almost a week, and he is still reeling from the reality and senselessness of his death. 

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. 

Good people

I feel so lucky to have so many good people in my life. 

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.

Whoever says “money can’t buy happiness” is full of crap

If we had the money…

• I would not have to worry about going back to work and would be able to take care of Hannah – talk about lifting 500 tons of stress off my shoulders!
• I would hire a part-time (12 to 15 hrs a week) ”special needs” baby sitter to take care of and play (therapy work) with Hannah while I could have a few hours every couple of  days to
  • get house stuff (bills/phone calls/research/cleaning) done
  • start working out and taking care of myself – can’t remember the last time I read a book or scrapbooked!
  • work on raising funds for and researching/organizing what GD, PD, Alz, and LSD research is out there
  • take time to plan out real dinners, organize coupons, and actually cook
• I would hire a cleaning crew to come to our house once a week so instead of concentrating on laundry/cleaning/etc., I could concentrate on all three kids yet not have the stress of a messy house
• I would try and find some kind of social groups that I could take Hannah to so she could learn to socialize with other children around her age

I have to admit.  The thought of having to go to work in a few months is killing me.  I WANT to be the one taking care of Hannah during the day, taking her to her appts and therapies and treatments.  I WANT to be home for Ethan and Abby when they get home from school.  I DO NOT WANT to put Hannah into a regular daycare setting where they are most likely not equipped to handle her special needs — what if she gets really upset for some reason (which happens), and she starts hyperventilating.  I am the only one right now who can calm her down…not even Daddy or the other kids.  It is killing me that she could have an episode like this — I don’t know what would happen if she hyperventilates too long. 

Not only that, but how can I get a job yet be able to go downtown every other Monday for her IV Cerezyme infusion?  What school administrator is going to say – sure, we’ll hire you as a teacher and no problem taking off every other Monday.  Home Health isn’t an option because of her age, so it has to be administered in the hospital setting, which is only available during the week.  And her doctor appointments of which there are many — who is going to take her to those?  Do I take more time off for that? 

So, whoever said “money can’t buy happiness” is full of crap.  It could buy me peace of mind that I can be the one to take care of my family, not stress about paying the bills, and it would relieve a lot of anxiety and tension in the house that is being caused by “mommy will have to go back to work.”

Vent over… back to real life…

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