Life with a boy and his Hypoplastic Left heart Syndrome, now Heart transplant and partial Liver from Aspergillius. Also, a girl and her Tethered Spinal Cord Syndrome, Neuro Endocrine Cell Hypoplasia, Lumbar Hemangioma, asymmetrical gluteal cleft, Pectus Carinatum and two Super Sisters and one yummy baby brother.

Wednesday, September 18, 2013

May's CT and results

MayLee has been on continuous oxygen since her cord release and it has stumped us so far. After doing the echo, swallow study, and Zpac with no changes, we finally felt like we needed to go ahead with a CT scan. It was surprising how quickly things were put together and ready. I talked with Doc U on Friday and had it all set up for Monday. He was wonderful to work with and doesn't do the usual hurry up to wait. We are really blessed because our Pediatrician Doc Mashkuri, cardiologist- Doc Su, and now Pulmonologist Doc Uchida are pretty much the most amazing doctors who work well with me and understand when to be delicate and when to be straight. I really really like them. They are on my Christmas card list.
So Monday came and bright and early we headed up to the hotel on the hill (PCMC main campus). We checked in, then played while we waited. This was a conscious sedation so three pokes for an IV and a little Versed later and we were ready. The whole procedure took like ten minutes or less. We went over to recovery. I forgot my ped wanted a set of labs so I had to wait around a little for orders to be faxed in and found. We always get the nicest nurses and they took care of us while we waited. 
After that I ran up to see a cute little heart friend waiting for an angel heart. Then went the the RMHFR to nurse May. 

Home again-
I ran to daddies shop to pick up Eden who spent the morning with dad.. What a treat!!!!! 

We heard later that night from Dr. M. She explained what she suspected but didn't want to over step. She deals with the child as a whole. So she wanted to let the specialist explain things in depth. While it stressed me out a little I didn't run to google. She advised against that. She did tell me that we need to run a few more labs that were missed. Also May is slightly anemic. A little iron supplement should fix that. 

This morning Dr. U called and I missed it. He called back when I was getting Gators meds at Target. He explained that May has a rare lung disorder called Neuro endocrine cell Hypoplasia in infancy... Ready for the acronym.... NEHI.... New to the medical world in the last 7 years... Basically it's a name for what they see... And because its new and rather rare, there are many unknowns... Like is it congenital or genetic. How does it come about.. Long term outcomes of patients with NEHI... 


Armed with a little more info I now looked it up... Here is the best article....

NEHI is a disorder of the lungs in children and is classified within the group of children’s interstitial lung diseases (chILD). This disorder is relatively rare and was classified and described in 2005. As a result, it is difficult to estimate the number of children with this disorder in the US.
Children with NEHI often have rapid and difficult breathing, low levels of oxygen in the blood (hypoxemia), and crackles are heard on examination with a stethoscope. Wheezing, although not characteristic, may also occur. Children may be initially diagnosed with asthma or prolonged respiratory infections as the symptoms may overlap with these. However, children with NEHI generally do not respond to asthma treatments and corticosteroids.
What causes NEHI?
The cause of NEHI is poorly understood at this point in time. Although we recognize the increased number of PNECs in NEHI, the mechanism by which they are involved remains unclear. NEHI has been found to run in some families so it suggests there is some genetic basis for this disorder. However, a gene abnormality has not been identified. Environmental causes may also influence the development of NEHI, but much more research must be done to answer these questions.
When any form of chILD is suspected, there are several tests that are commonly done to help with the diagnosis. Lab work to rule out other causes of these symptoms, such as cystic fibrosis or immunodeficiency, is often performed. A bronchoscopy with bronchoalveolar lavage (BAL) is often performed which can look for infection, inflammation, and signs of aspiration into the lungs.A high-resolution computed tomography (CT) scan of the lungs is often useful in the diagnosis of NEHI, showing a characteristic pattern called ground glass opacities. The lungs also show areas that are inflated to different extents, with some areas being overinflated and some underinflated, creating a mosaic pat- tern on CT. An Infant Pulmonary Function Test (infant PFT) has become more important in diagnosing NEHI. This test is not always used, because it takes specialized equipment that is not always available to the clinician. These usually show trapping of air in the lungs in NEHI patients. If all of these tests are characteristic of NEHI, the child may receive a diagnosis of NEHI Syndrome without a biopsy. However, if any of the results or symptoms are not typical, the only way to conclusively confirm the NEHI diagonosis is through a lung biopsy. The biopsy tissue typically has little or no inflammation and when stained with a particular bombesin stain, demonstrates an abnormally increased number of pulmonary endocrine cells (PNECs) within the small airways. PNECs are cells that are usually present in the lining of the airways, alone or in clusters called neuroepithelial bodies (NEBs), and are thought to be involved in lung development. In NEHI, the number of PNECs and NEBs in the airways is always significantly increased.
The treatment for NEHI is mainly supportive. NEHI children often have labored breathing, which uses more calories than normal and can be accompanied by gastroesophageal reflux (GERD). As a result, poor weight gain (failure to thrive) is often seen with NEHI. Optimizing the child’s nutritional status to promote adequate growth is important for overall health. Oxygen supplementation may also be required. The amount of oxygen needed varies in NEHI patients. Some need oxygen 24 hours a day, while others will only wear it at night and during illness, while some do not require it at all. Most NEHI patients decrease their need for oxygen over time and most eventually grow out of the need for supplementation. Common colds and flu can be more severe in NEHI patients, so limiting exposure to respiratory infections is also important. Seasonal flu shots and prevention of Respiratory Syncytial Virus (RSV) is recommended. Oral corticosteroids, which are used to decrease inflammation in other lung disorders, have not been shown to be helpful with the symptoms in most NEHI patients. This is consistent with the limited inflammation seen on lung biopsy.
There is currently limited information on the long-term prognosis, as NEHI has only been recently recognized. However, the symptoms of NEHI usually decrease over time and are not progressive in nature. No death secondary to NEHI has been reported so far.- See more at:

Now, are you wondering if this related to her Tethered Cord syndrome or her Hemangioma??? Probably not. Since this has nothing to with anything skin or spine.... Yeah she just has a jumble of unrelated issues. There is probably another case of the three together out there somewhere... Maybe she is the only one and they will name it something like... LTH or Mays syndrome or something like that....

Are you also wondering what it will be like for us with this news???? Well, it means we don't get to ditch the half child all that soon. And we most likely will need a couple more tests. Doc U is sending her CT readings to his buddies in Denver. They will help us determine without an evasive lung biopsy what we suspect. She will need a sweat test to rule out Cystic Fibrosis. But, nothing we can't manage. My eyes leaked a little in front of the Target pharmacist. Not my best moment... But, I hiked up my big girl panties and took a deep breath and it's really going to be okay.

Mostly I know Heavenly Father comforts us all and The Still Small Voice calmed my fears and I am able to see the bright side of this. Hey I get to have super strong muscles.... Right??? Right??? I get to expand on my ever growing understanding of our amazing bodies and not take things for granted. Our insides really are amazing. Everything is perfectly wired, and has big jobs to do. Down to the smallest cells. WOW!!!! We really put emphasis on the outside... but the inside is way better.

Don't feel bad for us or think I am something super... (remember eyes leaking at store) I am just a lady, who happens to be a momma of some kiddles who need a little extra medical support. I don't have any special training except I know a trick. The creator of us all knows. If I need help, there is answers... What I lack in faith, I borrow. So thanks... Besides... I will do anything I need to for my babies and you would too.

In Other News....

She stands.... Still on her toes most of the time, but pulling to a stand is huge.
Naughty cause she isn't that strong...

To end we just want to say... When life gives you Lemons... Wear this dang cute shirt and be happy happy happy! 

Check out the shape of Gators scab.. Did that on his bike... Crazy huh???


Cynthia said...

I am glad you have an explanation. Sometimes the unknown is the hardest thing because you aren't sure WHAT you'll be dealing with. It is heartening to know that the symptoms will most likely decrease over time.

We had to get the sweat test with Bethany at PMC when she was 3. It's pretty simple and the results come quickly. It was great to rule it out for us and I'll be cheering when they rule it out for you!

likeschocolate said...

I would be surprised if this was CF given you have three other children and no signs of CF. Wonder if higher altitude has anything to do with this. My girlfriends baby really struggled with SAT levels and eventually around 9/10 months were able to ditch oxygen. She also had terriable reflux, but today is a thriving three year old. They also live in a higher altitude-Colorodo Springs. Sorry you have to go through this as if you haven't gone through enough. However, if I know you you would rather go through these things than not have here. She is another little angel here on earth. Through trials we are made strong.