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.

Kyle’s mom and I are off to get the researchers’ opinions of this hopeful breakthrough! 

University of Iowa scientists use blood-brain barrier as therapy delivery system
Enzyme delivered through the bloodstream corrects deficiencies in the brain

The blood brain barrier is generally considered an obstacle to delivering therapies from the bloodstream to the brain. However, University of Iowa researchers have discovered a way to turn the blood vessels surrounding brain cells into a production and delivery system for getting therapeutic molecules directly into brain cells.

Working with animal models of a group of fatal neurological disorders called lysosomal storage diseases, the UI team found that these diseases cause unique and disease-specific alterations to the blood vessels of the blood brain barrier. The scientists used these distinct alterations to target the brain with gene therapy, which reversed the neurological damage caused by the diseases.

The findings, which were published Sept. 13 in Nature Medicine’s Advance Online Publication (AOP), could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.

“This is the first time an enzyme delivered through the bloodstream has corrected deficiencies in the brain,” said lead investigator Beverly Davidson, Ph.D., UI professor of internal medicine, neurology, and molecular physiology and biophysics. “This provides a real opportunity to deliver enzyme therapy without surgically entering the brain to treat lysosomal storage diseases.

“In addition, we have discovered that these neurological diseases affect not just the brain cells that we often focus on, but also the blood vessels throughout the brain. We have taken advantage of that finding to delivery gene therapy, but we also can use this knowledge to better understand how the diseases impact other cell types such as neurons,” she added.

Lysosomal storage diseases are individually quite rare, but as a group they affect approximately 1 in 8,000 live births. The diseases are caused by deficiencies in enzymes that break down larger molecules. Without these enzymes, the large molecules accumulate inside cells and cause cell damage and destruction.

Enzyme replacement therapy has been successful in treating one form of lysosomal storage disease called Gaucher disease. However, storage diseases that affect the central nervous system remain untreatable because it has not been possible, to this point, to get the missing enzymes past the blood-brain-barrier and into the brain.

“Our discovery allowed us to test the idea that the brain cells might be able to make use of the reintroduced enzyme to stop or reverse the damage caused by the accumulated materials,” said Davidson, who also is the Roy J. Carver Professor in Internal Medicine. “In the treated mice, the affected brain cells go back to looking normal, the brain inflammation goes away and the impaired behaviors that these mice have is corrected.”

To develop their gene therapy targeting system, Davidson and colleagues used a technique called phage panning to identify peptides that hone in on the blood vessels surrounding the brain. Surprisingly, they found that peptides that targeted the brain blood vessels in mice with lysosomal storage diseases were distinct from the peptides that targeted brain blood vessels in healthy mice. Moreover, the peptides that targeted blood vessels in different diseases were distinct from each other, suggesting that each disease causes specific alterations to the blood vessels.

The team modified a deactivated virus used for gene therapy so that the virus expressed copies of the unique brain-targeting peptide on its outer coat, and also carried the genetic blueprint for the missing enzyme.

The study showed that the modified virus targeted the blood vessels in the brain and caused the blood vessel cells to produce the enzyme. Most importantly, the researchers found that the enzyme was secreted into the brain tissue in sufficient quantities to correct the disease symptoms and problems.

The team was able to use this approach to treat two types of lysosomal storage disease in mice, suggesting that the approach could be used for other types of lysosomal storage disease and possibly other neurological disorders.

Today was infusion day again.  Every two weeks sure comes up quick!

I took this photo today, as Hannah laid on a pillow on my lap.  During the 2-1/2 hour process, she fell asleep about 10 minutes into the infusion, and she woke up 5 minutes before the saline flush was done. 

I try to plan it this way.  Her infusion starts at 10 am, which is right around her first naptime.  If I’m lucky, I’ll get one meal into her right before she falls asleep.

So much is going on with Hannah, but nothing really dramatic.  We meet with the nutritionist tomorrow, late morning.  I’m VERY interested in how that is going to play into things. 

But I just wanted to share this picture, my beautiful sleeping angel.  My fighter.  My baby girl.

Addison Bower Walk

Outside Hannah’s vocal cord weakness and laryngomalacia, our biggest issue for her is feeding-related issues.

I have to tell you.  Trying to feed Hannah by spoon each day, few times a day, is my biggest disappointment.  It is still an incredible fight to get her to eat by spoon, and she will still only eat stage 2 fruits by spoon.  We still feed the majority of her food through her Avent bottles, even pureed stage 3 foods.  She is now on whole milk and no formula.

HUGE accomplishment coming…

As for feeding by hand, she now will eat air-puffed foods.  Cheetos are her absolute favorite.   She will eat four or five of these at one sitting.  She actually will dig her two bottom teeth into it.  Thank goodness for Cheetos!  She also is eating the air-puffed Gerber-like air puffed foods like the wagon wheels, air tubes, and the little air-puffed stars.   She will also eat Vanilla wafers and gerber-like cookies! 

So, we are definitely making some strides.  We are dealing with two completely separate, yet both totally frustrating issues.  First one is that she will not be spoon-fed.  She also won’t eat it if we leave it on her plate, toys, or a spoon next to her.  Yet she will put EVERYTHING in her mouth that is not food, and she will chew like there is no tomorrow on those.  Yet, when she is willing to be spoon fed, we have to slip the spoon in her mouth, between her lips, at the right angle between her gums and teeth.  She does NOT open her mouth for it.  It will take 30 minutes for one stage-2 jar of food, IF we are lucky.

The other issue is that she doesn’t like chunks in her mouth.  We haven’t been able to get into real stage-3 type of foods yet because of this.  We are slowly making progress, as she will take thicker with micro-chunk stage-3 foods, like a blueberry-banana type that had tiny pieces of blueberries in them.  Anything else, she will either spit out or attempt to gag out any little chunks.

It is almost as if she doesn’t put “chewing” and “food” together.  She chews on toys.  She chews on non-breakable food (like beef jerky, carrots, etc).  But if it will be something that breaks off in her mouth.  No chewing.  That’s why the recent advancement of her eating Cheetos air-puffs and other air-puffed baby foods is such a big deal.  She doesn’t chew on them, but she does work them in her mouth and swallow them.

Anyway, why are these a problem, outside of the obvious?

Hannah now isn’t getting enough calories.  She has been around 20 lbs for almost 4 months now.  It isn’t that she isn’t eating, the problem is that what she is willing to eat is just not caloric enough.  In one day, she will eat about 7 to 8 jars of stage 2/3 foods plus about 18 oz or more of whole milk.  Plus a few air-puff sweets every now and then.  Five full meals a day.  She just doesn’t have the stomach space to add more.

She is just so active now, especially in her little walker.  She just zooms all over the house. 

I talked to Dr. Vartabedian about it, Hannah’s GI doc, and he recommended started to add Pediasure and Boost Essentials to her bottles in addition to the milk.  

Thankfully, we are meeting with a pediatric nutritionalist on Tuesday so we can come up with a real plan on feeding so that we can increase the calories, make sure she is getting the correct amount of protein, etc.  We have been just “winging it” for so long, and since she isn’t making as much progress as we had hoped by this point at 14 months, we have to work with what we are given.

For anyone around the Fisherville, Virginia, area, please consider participating in this event.  This event will DIRECTLY help children like Addison (for whom the walk is named), Hannah, and all the other children diagnosed with Gaucher’s disease, types 2 and 3.

You can find complete details here, but are some of the details…

Amanda Bower Walk
Sunday, September 20th

Wilson Memorial High School
189 Hornet Road
Fisherville, Virginia

Registration, 1 to 2 pm
Start time:  2 pm

Registration fee (day of event):  $35
Early online registration:  $30
Children 2 – 12:  $15
Registration Fees include a Tshirt