Archive for the ‘Diagoses’ Category

On his last email to me, Hannah’s genetic doctor said that they will be sending off her fibroblasts from her skin biopsy once the cells have matured (or whatever they do) for a “full workup.”  I looked up the website for the laboratory doing the study, and this is what they will be testing for.  I just need to find time to go through all of these and see if Hannah’s symptoms may match something else as well as NPC and Gaucher’s.  (Even though we know NPA and NPB have been ruled out via blood studies and Gaucher’s is “unlikely”).

GM1 gangliosidoses
GM2 gangliosidoses
Mucopolysaccharidosis VII
Metachromatic leukodystrophy
Krabbe disease
Niemann-Pick Types A & B
Multiple sulfatase deficiency
Gaucher disease
  Hurler-Scheie syndromes
Fabry disease
Maroteaux-Lamy syndrome
Sialidosis and Galactosialidosis
Sialic Acid Storage Disease and Salla Disease
Mucolipidoses II & III
Sanfilippo Type B
Niemann-Pick Type C (requires loading studies)
Wolman disease (chol. ester storage disease)
Farber disease (requires loading studies)

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Hannah is 13 lb 1 oz!  I cannot believe how much she has grown!  I mean, she was 12.8 lb when they did her skin biopsy last week!  Crazy, crazy!

Her liver does seem bigger to him, maybe by a centimeter or so.  Her platelets are holding stable at 103,000.  Her spleen is still enlarged at 6 cm. 

He also started her immunizations.  Better late than never.  He did the 3-in-1 shot, but he is going to do this slowly and not do all the 2-month-old shots just yet.  Because her spleen is involved, he doesn’t want to overwork it with all these immunizations, even though he got the go-ahead from the genetics doctor.

New symptom or not…she has this, I’m not sure how you would call it, like an rough-skin patch on both of her ankles.  He termed it lichen-something or other.  I have an email to him asking him for the name again.  So, he wants us to slather them in vaseline tonight and cover it with a sock overnight.  Kind of like Big Boy E’s eczema outbreak routine.  He says it could be something related to whatever she has, or it could be totally separate.

The breathing issue is getting worse, and he wants us to see an ENT (ears, nose, and throat) doctor now.  Not like she doesn’t already have enough doctors already (this will be #6).   He saw the gasping when he was examining her.  It isn’t like she is struggling to breath, because I do look for the signs of that (nostrils flaring, chest retracting, etc).  She just gets so riled up with excitement sometimes that it starts.  But usually, it just happens mildly — that is what he saw. 

He called her a medical mystery.  I hate that.  I called my mom after the visit, and she told me I sounded “deflated.”  Honestly, that was a good description of how I felt. 

Tomorrow is the opthamologist for a retinal exam.  I’m PRAYING they don’t see any cherry red spots in her retina.  If they do find it, it means she most likely does have one of the lysosomal storage diseases (like NPC or Gaucher’s).  If she doesn’t have them, that still doesn’t rule those diseases out. 

I wish we could get something concrete soon.  Off to cuddle her some more…. her smile just melts my heart!

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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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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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Everything with our gorgeous little girl was going well the first couple of days. She was able to room-in with me, and I loved having her right there. DH spent the first night with us, and I couldn’t take my eyes off her (My parents came into town and the kids slept over at their hotel). She did exactly as she was supposed to – eat, poop, pee, and sleep!

The second night, I was by myself because DH went home to sleep with the kids since they were missing us quite a bit. At about 12:30 AM, I asked the nurse if they could take Hannah to the nursery just so I could get some sleep. I slept a bit, but at 4:00 AM, I missed her so much, I asked the nurse to bring her back. I hated being apart from her and couldn’t sleep anymore without her there!

Later that morning, the pediatrician on call came to check out Hannah. He said she looked good except for an obvious case of jaundice, and he was going to have them bring up the photo therapy lights. He wanted to get some bloodwork to check out her bilirubin numbers.

Around late afternoon, they brought in the photo therapy lights and got Hannah set up on the machine. I absolutely HATED the mask they make the babies wear, and Hannah hated it too, it was clearly obvious. But I know she had to wear it. We were allowed to take her out to feed her, but she needed to be in those lights every other moment.

They also wanted to do some bloodwork and had to take three vials of blood from Hannah’s foot. She was NOT happy, especially since one of the vials had clotted twice on the way to the lab, so technically, her little body had to fill 5 vials!

I’m not sure how this next part really started, but DH spent that third night with Hannah and I in the hospital. About 1:00 AM, my nurse brought in this NICU nurse, and they started talking about the “mass” in my baby’s abdomen like I knew what she was talking about. DH had woken up by this time (still very groggy, he was exhausted). Then the NICU nurse made the comment about how “she only needs one kidney anyway” and then left the room. DH and I just looked at each other trying to figure out what the hell just happened, and I lost it. Call it hormones, call it fear, but I just became hysterical… what do you mean my daughter only needs one kidney? What mass? DH stormed out of the room and after the nurses to find out what the hell they were talking about.

Apparently the night that Hannah spent in the nursery, the doctor’s palpated a pass in her abdomen. The nurse that night was supposed to tell us what had been found. We were NEVER told. Our night nurse was actually really apologetic for what had happened, as they thought we had already known, but we were more furious with the NICU nurse acting as if surgery was no big deal on a 2-day old baby and treating us as if we weren’t there! I need to get more details from DH on all of this because this really has become such a blur.

Long story short…

The next morning, Hannah’s bilirubin numbers still climbed even though she had been under the photo therapy lights and phototherapy blanket, which apparently is unusual. A new NICU nurse (who was very sweet) came in and told us that the doctor’s had decided the Hannah needed to be transferred to the NICU to be assessed and monitored.

They ended up putting her on a heated open crib in the NICU with the photo therapy lights going. It broke my heart to see her in there that first time. But, in hindsight, this was the best thing for her because these items needed to be figured out.

So, here is where we are…

1] Thrombocytopenia. Hannah’s platelet count is of our highest concern at the moment. Normal platelet counts are between 150,000 and 300,000. Her count went from 31,000 to 6,000, which is dangeously severe, and they were worried about intracranial hemorrages. They ended up having to give her a platelet transfusion on Monday because it was so low.

There are two thoughts as to why this is happening…either she has contracted a virus like CMV, which can have hearing, vision, and neurological defects, as well as attacking the platelets, or she has Neonatal Alloimmune Thrombocytopenia, which means that the proteins from my platelets in utero thought that her proteins in her platelets were foreign objects and attacked them (same philosophy as Rh factor, but much less common). Either way, her body wasn’t able to either produce new platelets or it was continuing to destroy the platelets that were growing…we aren’t sure at this point.

They take her platelet count every 12 hours, at 6 AM and 6 PM, each day. Her numbers have been like this… Pretransfusion 6,000. After transfusion, 86,000, then 79,000, then 61,000, then 54,000, then 44,000 last night. If they get to 30,000, they need to do another transfusion and would prefer to do it by tomorrow, as that is when her current bag of donated platelets expires (prefer to keep the same donor as she didn’t have any negative reactions to the tranfusion).

BUT, we got some good news for the first time today! Her platelets actually went UP for the first time since this all started! To 54,000! Still extremely low for normal, but it is a GAIN, which means her body is started to produce platelets and/or her body isn’t destroying the platelets she is making as much (or at all, we don’t know!).

We talked to the neonatologist and the nurse practioner today about this, and both said this is a great sign, but to be prepared because it can go back down again, as they have seen it do many times. But this is a positive step forward. When we asked what they are looking for, they said that they want to see a positive “trend” of increasing numbers to over 100,000, and then we can consider sending Hannah home for outpatient continuing treatment. So that is our goal — 100,000!

2] Jaundice. Unfortunately, Hannah’s jaundice is more stubborn that most newborns. But, like the platelets, we are finally seeing an improvement in the past two checks (check once a day). She went from 13.9 up to 16.9 (normal being 0.2). We have had ups and downs with this, but after three days of being on the “down side,” even though it isn’t down as far as they would like, they decided to try her off the photo therapy lights from noon today on and see if she can bring it down on her own. We find out that tonight as well, as they are going to do another check at 6 PM.

3] Enlarged spleen. After doing a full abdomen and head ultrasound, it has been determined that her spleen was quite enlarged, and that was the “mass” that had been felt. No one is sure why. However, today was the first day that her spleen actually started to shrink! No rhyme or reason, but this is great. The doctor’s think that maybe the spleen was eating up the platelets somehow, but again, this is just a theory.

So that’s where we are medically with Hannah. Still waiting and seeing, but today was such a positive day in terms of going in the right direction finally!

As for Hannah herself, OMG, she is just amazing. We try to do as many feeds as possible even though I’ve already been discharged, at least 4 to 5 a day if we can. I cherish that time so much, even if it is just being able to hold her in my arms and cuddle her. She is starting to open her eyes more, and I just melt when she stares into my eyes and watches me. She also has the cutest little facial expressions, especially her “smile” (you know, the gassy effect). She also has this “am I yawning or going to cry” look she gives us. I hate having to leave her there!

DH is completely smitten with her too. We almost have to fight over who gets to feed her and who gets to hold her (I usually win, but I let him have time with her too.). I love watching him just hold her and stare at her, studying her.

The kids have both met her. Ethan seems indifferent but happy. Abby just can’t get enough of her. Unfortunately, they haven’t spent really any quality time with her because she has been in the NICU for 4+ days, but it should be interesting to see how things work out after she gets home, which I hope is soon!

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