Archive for the ‘Procedures’ Category

Hannah at 4 months old

Hannah at 4 months old

(New post at my daily life blog  – click to read)

Unless we hear something about Hannah’s skin biopsy, which I doubt, the only thing we have going this week is a meeting to come up with a IFSP (individualized family service plan) with Early Intervention.  Two people are coming over on Wednesday morning, and we were told it would last a couple of hours.  Being that she is only 4 months old, I’m really curious to see what they recommend.  However, I do plan to take them up on their posted services about finding support groups for both Daddy and I and for siblings if we need to take advantage of that. 

We pretty much had a complete denial weekend, and honestly, we didn’t talk about her condition much at all during the past few days until later this evening on the way home from dinner.  It was a nice mental break, I guess.  Denial would also be a good word for it.  But it was just nice being a family of five, cleaning the house after the carpet fiasco last week, and starting to get the holiday decorations ready.

I did receive the following email response from our genetics doctor.  His nurse told me about 10 days ago that she would check to make sure the skin biopsy is growing okay, but she has yet to return my messages.  So annoyed with that, and I will try again THIS WEEK and follow up on this.  If for some reason this skin biopsy fails to grow, I want to know as soon as possible, so we can get another one done and get some answers.

Anyway, here is part of his email…
The fibroblasts will be tested at our lab for Gaucher and also sent to the Lysosomal Disease Testing laboratory at XYZ where the cells will be tested for NPC as well as a screening panel for other enzyme deficiencies (a “full” workup).  These tests do not guarantee that we will have a diagnosis after they are performed, but we will have to cross that bridge when we come to it.

On a separate note…

 Hard to believe I was pregnant with Hannah at this time last year but didn’t know it!  Wow, if I knew then what I know now, I would not have believed it.

I posted a bunch of new pictures on facebook of Hannah, Big Boy E, and Little Girl A.  But here is my favorite one of Hannah! I’m still working on fixing my shutterfly account.


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Just got back from the Ear, Nose, and Throat specialist.  She had to stick a tube with a camera down Hannah’s nose, while she was wide awake, to check out her structures.  I’ve never heard Hannah scream like that before.  I actually started losing it during the 3-minute procedure, but I didn’t.

Apparently the sound she is making is called “stridor.”  She said Hannah’s structures were normal, but her tone was poor.  She made the diagnosis of laryngomalacia, “very common condition of infancy, in which the soft, immature cartlidge of the upper larynx collapses inward during inhalation, causing airway obstruction.”

However, because of Hannah’s possible diagnoses, the poor tone could also be (and apparently is likely to be) related to whatever condition she has.  We just have to ride it out.  She wants to see Hannah back in late January to reevaluate once we know what her condition is. 

If this laryngomalacia is related to her condition, then it will not improve, and it will only get worse.  We are talking possible breathing tubes and/or feeding tubes in the near future.  

I lost on the drive home from the doctor’s office.  Daddy came out to meet me in the garage when I got home, and I just started bawling.  I still can’t seem to shake it right now as I type.  I don’t know what to do.  I feel like someone is playing a very cruel joke on me.  Hannah is such a beautiful and smiley little girl.  She really just lights up my world.  Why do I feel like she is going to be taken away from me sooner than later?  This fucking sucks.

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Her eye doctor appointment went better than I expected.  I kept thinking how much I hate getting those eye drops in for dilation and sitting there staring into those machines.  How the heck would they get an almost 4-month-old baby to do that?

Well, they used drops that first numb the eyes that supposedly feel like water.  They must have been close, because Hannah was a bit annoyed at first, but then she got over it.  Then, about 5 minutes later, they did the dilation drops, and she took it very well!

We had to wait 30 minutes for the drops to set in. 

Good news — no cherry red spots!!!  Not sure exactly what this rules out, but I know it isn’t the NPC or Gaucher’s.  But perhaps it is another type of disease that they can rule out.  Her eyes are anatomically normal!

She is a bit delayed developmentally with her eyesight, however.  It takes her awhile to find a noisy object.  Sometimes, she just doesn’t find it and isn’t really looking for it.  But when she does lock into something, she definitely can stay fixated on it.  Definitely something to bring up to ECI tomorrow.

Another appointment down, another one tomorrow.  Oh yeah, she has her ENT (ear, nose, and throat) doctor on Monday to check out her breathing and swallowing issues.

What I would give for some answers right now.

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Great news — the Neimann Pick A and B tests came back negative!!!! HUGE relief. The doctor said that at this point he basically has a list of possible diagnoses, and he is just going down the list starting with the most likely…Gaucher’s is still on the list even though it seems unlikely at this point.

Bad news — Hannah had her skin biopsy today, and that was a huge nightmare! It actually went the way it was supposed to, but even with the lidocaine to numb her arm, she still screamed bloody murder. I can handle a lot of medical stuff, but her reaction was really getting to me. Fortunately it didn’t last longer than 10 minutes, but it seemed like a lifetime. (Basically, they take what is similar to an eyelet punch /hole punch and put it in her arm to get a full layer of skin and put that skin sample in a vial to be grown out for cells).

The next tests to check for her Neimann Pick C and Gaucher’s. Unfortunately it takes a month to grow out the cells and another 2 to 3 weeks for the results, so we probably won’t hear anything until after the new year. We have her opthomology appt next week to try and rule out some other possibilities and also to see why she has the blue tint to the white part of her eyelids. We also have early intervention starting next week so we can keep track of her development.

Oh yeah, and she is 12 lb 8 oz! She is growing like crazy! She has almost doubled her birth weight already.

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Where we are today…

Hannah is almost 3-1/2 months old already, can you believe it?

  • Skin biopsy on 11/12. This is so they can get a full DNA and enzyme test on Hannah without having to get bloodwork each time. Also used to rule out/rule in Gaucher’s disease.
  • Opthamology on 11/19. Meeting to do a full retinal exam on Hannah and also to check for cherry red spots on her retina (Neimann Pick disease). Also to get some ideas at why she has a blue tint to the white part of her eyes.
  • Early Intervention Services on 11/20. Dr. B, our pediatrician, wants us to get started with them right away so they can monitor her neurological and developmental milestones regardless of what we end up with.
  • Genetics specialist on 11/26. If the Neimann Pick isn’t back by then, not sure what we are going to talk about.

Gaucher’s disease is still on the table, but it may be close to being ruled out. Per the specialist:
“It would be very unusual for a patient with Gaucher disease to have 50-55% of the normal enzyme activity. It seems most likely that your daughter is a carrier and that her symptoms are not due to Gaucher disease. Testing for NP sounds like a good idea. If Dr. G does do a skin biopsy, the test for the Gaucher enzyme could also be repeated on the skin fibroblasts just to confirm the blood levels. There are also some other blood tests that indirectly can point to a diagnosis of actual Gaucher disease. THe most reliable among these is a test called chitotriosidase. This enzyme is usually very high in patients with Gaucher disease-moreso than in virtually any other disorder. However, 6% of the general population have a mutation due to which they do do not make chitotriosidase so it is not a test that is 100% useful. Additionally, patients with NP can have elevations of chitotriosidase but not nearly as high as those typically seen in Gaucher disease. Another blood test is CCL-18 or PARC but this test is not commercially available in the US as far as I know.

We are currently waiting on the results of the Neimann Pick A and B tests. Unfortunately, those aren’t due back for three weeks. Why the heck does it take so long?????

Emotionally, I’m having an extremely difficult time with this right now, especially having NP on the table along with Gaucher’s. Why can’t there be something on the table that isn’t going to take Hannah away from me in a couple of years?? There just has to be something else!


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Today was just a mess…

I left the house at 7:15 AM to try to make it downtown for our 8:45 AM appt for Hannah’s ultrasound and blood flow study. I was SO exhausted, as I don’t think I got more than 4 hours sleep that night before. We didn’t get checked in until 9 AM. However, we were waiting to be called, and Hannah was hungry because she hadn’t eaten since 6 AM. So, I started feeding her.

Finally got called in about 5 minutes after I started feeding her, and the ultrasound technician says that “she wasn’t supposed to eat for 4 hours before her appointment” and that I would have to either wait 4 hours or come back another time! EXCUSE ME! WTH? No one told us that she wasn’t supposed to eat 4 hours before, and believe me, I would have remembered that because she has always gone 2-3 hours between feedings and NEVER has made it to 4 hours!! I was friggin pissed off, believe me. But, what choice do I have? We decided to wait it out.

We still had about 90 minutes left until the 2nd-take of our appointment, and Hannah was absolutely miserable because she was so hungry. I have never heard her scream so much, and it seemed like nothing was consoling her. She isn’t much of a pacifier baby, but at least that helped for part of the time. It was heartbreaking seeing her like that.

FINALLY, we got in for our ultrasound appt, and Hannah was still miserable. The appointment took about 45 minutes, and I have no clue what the results are. I’m HOPING that we find out Tuesday morning at Dr. B’s office because the ultrasound tech didn’t even give me any hints, and I couldn’t even tell what I was looking at.

Tuesday, we have two doctor’s appointments — 8:45 AM with Dr. B for Hannah, and then I have my doctor at 11:30 AM to check my blood pressure (to see if it has gone down or if I am going to be put on more chronic medication).

I fell asleep at 8:30 PM tonight and woke up at 11:30 PM to take over the feedings from Daddy. I just couldn’t keep my eyes open tonight. And now, it is almost 2 AM and I’m awake. Tomorrow should be another fun one!

On a separate note, today was the first day of school for Mr. E (second grade) and Little Girl A (preK), and they both had fantastic days! Little Girl A even told me that she wanted me to pick her up at nighttime so she could stay longer 🙂

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Severe neonatal alloimmune/isoimmune thrombocytopenia. That is the working diagnosis for Hannah’s main platelet problem. The viral panel came back this afternoon, and thank goodness, her CMV (cytomegalpvirus) was negative. It also causes similar symptoms to what Hannah has, but it comes along with hearing, vision, and possible neurologic problems. So NAIT is the diagnosis of exclusion that they are working on.

Because CMV was ruled out, they are going to do an IVIg infusion tonight. From what I gather, this infusion will give her antigens to help fight against the bad antigens from my body (which apparently are fighting her platelets). Whatever will get her healthy, I’m all for it.

When we got there for the 1:30 PM feeding, the NICU nurse warned us that she had to put an IV port in Hannah’s head. To them, they say it is easier to use the vein in the head so that the baby can still have her hands to herself. If all goes as planned, they will start the transfusion tonight at 6 PMish, and it will last a couple of hours. Then, they will do an IV saline flush through the IV for a few more hours after that.

Because of the IVIg transfusion, they aren’t going to do blood work tonight, so we have to wait until tomorrow morning. Also, we won’t be able to see her until tomorrow morning, so we actually stayed 90 minutes during this afternoon’s feeding (instead of our usual 45 minutes during feeding time) just so I could have more cuddle time. Of course, she was sleeping the entire time, but I didn’t care. I just loved caressing her face, rubbing her hair, touching her cheeks, kissing her head, and just staring into her sleepy little face.

We also talked to our pediatrician this morning. He has been really on top of Hannah’s care and was even at the hospital earlier this morning because he had left a note with his personal cell phone number on her chart in case something happened this weekend. He definitely agrees with the course of action so far, and he explained to us that this is not a day-to-day basis type of situation but, more likely, a week-by-week basis. He can’t release her early because platelets this low are very dangerous for cerebral bleeding…same thing the neonatologist told us, but he has a way of talking to us like a “real parent” in layman’s terms.

So, we are keeping our fingers crossed that tonight’s transfusion goes well and that tomorrow’s numbers show some sort of improvement. We are also settling in for a longer haul than we had been anticipating (planning for her to be in for at least the next week and be pleasantly surprised if she comes home early).

Also, Hannah is one week old now! She was born one week ago this evening. Wow, where did the time go!

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