I find that when things are moving along without a lot of drama that I don’t find as much to write about.   It is not for lack of anything really to say, but it is more that the “chaos” in our lives is more centered around moving to Las Vegas in June than Hannah herself.

But that does not mean that she has not made any strides this week!

• Hannah’s latest platelet count is 218,000 – normal!!!    For the first time in her life, her platelets are normal (150,000 to 450,000 is normal).  For a baby that was born at 6,000 and did not reach 100,000 until she was around 1 year old, this is great due to the Cerezyme!
• Treating her as a toddler instead of an infant.   Daddy and I have made a strong effort in the past few weeks to start treating Hannah less with kid gloves and more like a toddler.   Last night was our first attempt at putting her to sleep in her crib while she was awake (instead of falling asleep on one of us).  She cried and screamed for about 20 minutes before we brought her back to our room.  Tried again tonight — with the addition of a second paci and a little people in each of her hands, she fell asleep…in her crib!  This is wonderful!
• Screaming and crying.  We have noticed that she is learning to control her breathing much better during crying, laughing, and screaming.  Even though she does not have a normal “vocal” cry or laugh, she does not seem to hyperventilate anymore during her  tantrum episodes.  Her face will get bright red, and she will get very stressed out (as any kid who has gotten their way since birth and treated with ultrasoft kid gloves would be).  But she has yet to hyperventilate.  We have been pushing the boundaries of how long we can let her cry and tantrum, and we are very impressed with her tolerance now.   It is not quite “normal,” but it is a heck of a lot longer than before.  This is a huge breakthrough for us, both on the medical front and from a parenting front.
• Inability to go from stand to the floor.  Now that she is pulling herself to stand and cruise more and more now, she has gotten into the predicament that she does not know how to go back down to the floor.  She also does not know how to get down to the floor from a little chair as well.  She gets really freaked out, and when we try to move her through it to teach it to her, she stiffens up like a board and starts crying hysterically, as if she is scared of what we are doing.
• Curled toes and the W-sit.  She is also picking up some bad habits which we really, really need to start focusing on now.   Hannah does not know how to sit like a normal child.  She only knows how to get herself into a “W sit.”  This also allows her to go from lying to crawling to sitting and moving.  The W-sit is apparently really horrible on her knee joints, hip joints, and ankle joints.  Now that we are working with a gait trainer and a walker, we are seeing the negative effects of this sit on her walking.  Also, she has started to curl her toes under her feet when going from a sitting to a standing position to cruise or to be lifted up.  It looks so dang painful for her, as she winces as she does it.  We don’t understand why she does not put her foot flat out when she does it anymore.   We need to keep her in her orthotics and shoes much more often during the day to help with this.
• Cerezyme treatments in Vegas almost secured.  Finding medical services has been really, really rough for us.  Actually, finding a pediatrician in Vegas has been really tough!   However, thanks to the wonderful people at Genzyme and Amicus (who both recommended the same doctor), we are in the process of getting the paperwork in order so that Hannah will not have much, if any, of a disruption of her infusion treatments.
• Medicaid finally, sort of!   You know, this Texas Medicaid process has been over a year in the making.  We FINALLY got our medicaid number and Hannah is in the Medicaid system.  HOWEVER, because of a screwup with the person who processed our application, they forgot to put a guardian on Hannah’s Medicaid so the only person who can place orders on Hannah’s behalf is….Hannah!   Sure, just have a 20-month-old call, not a problem!  Such a pain in the butt!   But at least we have it, so even though we have to start the process over again in Nevada, we have the previous acceptance to the program to help our application.
• Formula issue.  I was so excited to get the Medicaid because I was hoping that it would cover Hannah’s formula since our insurance does not.   But guess what?  Medicaid will NOT cover it either?   Why?  Because Hannah does not use the formula with a G-tube or other feeding pump!  Because she drinks it in a bottle, it is not considered a necessity!   Unreal!!    So when we get settled in Vegas, I am going to work on appealing this with our insurance company.

Tomorrow is Abigail’s 6th birthday.  I can’t believe she is 6!   Both her grandparents sent her a check, so she went shopping for “girly” stuff — shoes, watches, lots of lip gloss and nail polish, fake kid nails, jewelry, purses, etc.   She LOVED it!  U was so shocked she did not want any toys!  She actually has some money left, and she wants to get MORE shoes with her money.   The two pairs she got earlier this week apparently are just NOT enough!   Happy birthday, big girl!

I just realized that it has been almost 8 months since I did the last general Hannah update!

Where Hannah is at (20 months 0ld)
Physically, Hannah is doing pretty stable since her last update.

• Hypotonia (muscle tone weakness), especially in her legs, is still pretty significant.  However, thanks to hydrotherapy, physical therapy, and lots of playtime with us at home, she has really gained in the area of gross motor development.  She is able to reciprocal crawl on her knees for more than 30 feet without stopping, she loves to cruise around furniture and really loves to stand assisted.  She is able to sit on her own, but she is only able to get into the dreaded “W-sit” on her own (sitting with her legs in a W shape, gives her a bigger base of support) which is not so good for her hips.   She has a gait trainer now (like a walker), and she has just started using that, which we hope will help give her the strength in her legs needed to walk on her own.
• Swallowing/Feeding issues. Her laryngomalacia (throat muscle tightness) and vocal cord paresis (weakness) has actually improved over the past 6 months, which was a great surprise to everyone on her team.   After our most recent visit to the NIH this past month, their swallow study (xray watching her swallow) revealed that she does not have the knowledge to chew her food before swallowing and also possibly has a hypersensitive defensive gag reflex, therefore, we are going to keep Hannah on a liquid diet (with a few cheetos as long as she does not choke!).  When we return to the NIH in 6 months, we will learn more about this swallowing issue and whether it is progression of her disease or immaturity in her oral feeding skills.
• Abnormal Eye Movements. She still has really poor muscle movement of her eyes both horizontally and vertically.  Basically, she has almost a webcam-type of vision.  However, she compensates really well by thrusting her head when she wants to look at something.  Her vision, however, is perfect.
• Cardiac issues. She still has a patent foramen ovale and a slightly dilated aorta, but there is nothing of acute concern at this point.  More like to keep an eye on things.
• No failure to thrive! Many type 2 children have failure-to-thrive issues, and all the doctors at the NIH at our recent visit were pleasantly shocked to see how healthy she looked.  She is almost 25 pounds and around 31 inches!   She had plateaued her weight for almost 5 months at 22 pounds while we were trying to figure out her feeding plan, but once we did, she is finally gaining.

Developmentally, she definitely has global delays.  Most of her doctors and therapists put her between an 8-month-old and a 12-month.  But, and this is most important, she is still learning new skills, they are just very slow, few, and far between.  Just recently she learned how to put things into a container (mastered taking things out awhile back), handing a toy to someone when asked (with visual sign language), and holding a bottle with handles on her own.   She is starting to learn tasks much quicker than she did in the past — whereas it may take a couple of months trying something new before she would get it, she will now get it within a few weeks if it is something she can comprehend doing.

Most importantly, she is an incredibly happy and smiling baby.  Now that her vocal cord weakness is starting to improve, we are actually starting to hear the beginnings of a vocal laugh and cry/tantrum now.  For so long, she was a silent laugher/cryer, sometimes to the point of hyperventilation.  But she is slowly learning to utilize her voice, even though all her communication is still babbling and her own unique gurgling sounds.

After our most recent NIH visit, we were finally able to get rid of the classic type 2 Gaucher’s diagnosis.  However, they don’t feel comfortable giving us a type 3 diagnosis.  Hannah is considered more of a spectrum Gaucher case.  What Dr. Schiffmann told us many months ago still holds true — Hannah is somewhere between a mild type 2 and severe type 3.

As for disease progression, we definitely see that it is affecting her much more than it was 8 months ago.  However, it is progressing much slower than everyone anticipated, which is a gift.  We finally get to do something that we did not believe we would get to do one year ago — plan her second birthday party!

Hannah had a rough day today.  She seems to have developed a cold and congestion, which wrecks havoc with her ability to sleep.   Last night was probably the hardest night in many, many months, as she and I were up much of the night.  Then, she had to go downtown with Daddy to get her Cerezyme infusion.   Apparently she was incredibly cranky there, more so than usual.  I think trying to get her back settled into a routine was much rougher on her than we had anticipated after being gone for 8 days!

But she is asleep now with her humidifier, her head on the pillow wedge trying to keep her from getting too congested.  We will see how long it lasts!

However, for the first time since Hannah started her infusions 13 months ago, she finally had an increased dose of Cerezyme.  I had been pushing for this for a few months, especially since she has gained quite a bit of weight since she first started at 6 months old.  (Cerezyme is dosed based on weight – 60 units per kg).   She had been on 400 units, and today was her first day at 600 units (she is 11+ kg now).

There is so much to do in the next 2 months to prepare for our move.   Even though I wish we could move today and just get it over with, I know having the two months is definitely a requirement just to try and get things done.   We really need to get on the ball and start getting ready, especially with finding a rental house so we have a place to move when we get there!

We have already narrowed down our move date.  We are going to leave the Friday or Saturday after the kids get out of school (which is on a Thursday).   Abigail, Hannah, and I are going to fly to Vegas and stay with my inlaws, and Ethan and Daddy are going to drive my minivan from Texas to Vegas and bring the two dogs and cat.   Also, Daddy is probably going to drive his car over in a few weeks and leave it at his inlaws as well as try to get some interviews going to see if he can find some kind of work.

Wow, what a whirlwind week this has been!   I will probably create a few posts to share about everything that went on this weekend because there is just that much that has gone on!  But first things first….

Hannah was a great trooper at the NIH this visit.  She was a lot more cranky than usual during the evaluations and consultations, but I think it is more that she is just tired of people poking and proding her.  But, she made it through.

The good news:

• She surprised many people with how great she physically looked.   What they were looking for was to see if she had failure-to-thrive issues, if she was “cachetic” looking, etc.   She did not look like a baby anymore, definitely a toddler.
• She has gained in skills.  Even though she is very slow at gaining skills, she still has gained skills since we saw them 8 months ago.  She also has really not lost any skills either.
• Her EEG and Hammer test were normal.  No seizures! BAER was not able to be determined because Hannah has fluid in her ears.
• We got to spend time with Dr. Sidransky, Dr. Goker-Alpan, Catherine (the N.P.), and other members of the NIH team discussing not only Hannah but other Gaucher-related issues and even non-Gaucher related issues.   These are just some really amazing, wonderful people.

The concerning issues:

• Swallowing/Feeding issues.  This was our main concern going into this reevaluation with Beth Solomon.  Hannah had another swallow study done (last one was with Beth 8 months ago).  It has been determined that Hannah is missing a step in the chewing process and does not have the instinct to chew her food before she swallows it.  I don’t have the paperwork with me right now, so I will post the official terminology later.  Long story short, she chews with the front of her mouth but she does not bring things to the back of her mouth to chew smaller before swallowing.  So she just swallows things pretty much whole.  Hence the gagging.  So now it may NOT be the hypersensitive defensive gag reflex or it may be a combination of this gag reflex (we did not try solid foods with Beth) plus this premature swallowing issue.
• Clonus.  Many of the doctors noticed that Hannah has this shaking of her hands and body when she gets agitated.  We always thought it was just Hannah being shaky because she was upset, but now there may be more to it.  Ever since it has been brought to our attention, we have really noticed that it is more common than just when agitated or upset.  I am still not 100% convinced that it is this “clonus” all this time but may also be part of her hypotonia and poor tone.

The good news is that none of the doctors think she has classic type 2 Gaucher’s anymore.  But that does not necessarily mean that she has type 3 Gaucher’s either.   They believe that she is on a spectrum of neuronopathic Gaucher’s disease and that she is not clear cut in  type.  It all goes back to Dr. Schiffmann’s original thought about Hannah being somewhere between a mild type 2 and a severe type 3.

Dr. Goker-Alpan and Dr. Sidransky think that our next visit in 6 months is really going to be key in seeing where we are in terms of progression of the disease.    They are going to be looking to see if she still continues to learn new skills, keeps growing, how her swallow issues play out (whether she has an immature swallow which she will grow out of or whether it is progression of her disease), her eye movement problems, etc.   I know they are going to do another brain MRI and some other testing just to keep tabs on her, including keeping an eye out for hydrocephalus (water on the brain), which has been noted in the D409H mutation.

Being able to have these incredible doctors take such a personal interest and care of Hannah is such an amazing gift to us.  Even though we are technically there for their “research study,” we left there with such a huge piece of mind knowing what exactly we are dealing with, what we have to keep a close tab on, and what is looking stable right now.  After leaving the NIH this time, we left with a huge weight lifted off of our shoulders.  We just knew where we stood in terms of her health, and those questions that could not be answered are really those that just can not be answered by anyone.

We will see them back in September!

Hannah did pretty good her first day of testing!

The morning started with meeting with Dr. Goker-Alpan, Catherine (the nurse coordinator), and Dr. Sidransky. They all separately commented on how they couldn’t believe how much Hannah has grown! They all commented how she totally looks like a toddler now and lost the baby look. But the best part of all was just hearing their pleasure at how good Hannah looks in terms of appearance, size, etc. No failure-to-thrive baby here!

We had a really rough night last night, as Hannah woke up almost every hour on the hour. So by the time she had her appointment for her EEG, she was exhausted. She slept through her EEG, the BAER (two trials), and even the Hammer test (two trials). The technician, Mike, could not believe that she slept through EVERYTHING, and that he was able to get two run throughs of the BAER and Hammer test! At least we know that whatever results we get, they had good data to go through.

We came back to the hotel afterwards, and everyone played for a while.

Then, we had to go back at 7:00 pm for a neuro appointment. Hannah was just NOT in the mood, and she had such a tantrum when the neurologist was examining her that her face was bright red, sweating, and she was ready to start hyperventilating. Nothing would distract her, not even her Mickey Mouse Clubhouse DVD. That appointment lasted a whole 10 minutes.

We were able to calm her down enough for our 8:00 pm appointment with Dr. Goker-Alpan. Hannah was back to normal, and spent the time just watching her Mickey Mouse DVD. It was a great conversation, and it gave us a good basis to start the week in terms of what to expect from the tests, the visit, etc.

Tomorrow we start with her abdominal ultrasound, skeletal xrays, and then we have something else in the afternoon.

The interesting “add” to the list is that they are going to do some testing on Daddy, as they are very interested in study more about the D409H gene mutation that he has. So, they are going to do an echocardiogram on him as well, as D409H historically is associated with cardiac calcification issues and hydrocephalus (studied as D409H/D409H homozygous GD).