Sophie has a rare lung disease called NEHI (Neuroendocrine Cell Hyperplasia of Infancy) which requires her to be on 24/7 oxygen. We have created this page to promote awareness and information about her disease. For more information about NEHI and other interstitial lung diseases please visit the ChILD Foundation website .
Neuroendocrine Cell Hyperplasia of Infancy 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 in 2005.
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.
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.
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.
Excerpt taken from ChILD Foundation website
Sophia was born at full term via c-section on December 9, 2011 at 6 lbs 9 oz and seemed a perfectly healthy baby; good Apgar scores, breathing on her own and comments were made in the delivery room about how good her color was. No problems there, it seemed!
the first month was a serious lack of interest in breast feeding and very small amounts taken via bottle. She wanted to eat often, but gave up pretty quickly. However, she gained alright and slept great. Generally she behaved, breathed, slept and met milestones like a normal newborn. Happy Mama here!
By two months old, I was getting very frustrated by her lack of interest in feeding, plus her continued reflux and started to worry. At her two month check, the pediatrician looked at me and point blank said, "Well, she is officially failure to thrive". Red flag #1 had been raised! Not so happy Mama! We stopped breast feeding, pumping, all that good stuff, and went straight to a high calorie formula with a higher dose of reflux meds.
By four months old, she had gained almost nothing more, weighing in at just over 10 pounds. The doc sent her for several tests (EKG, Echo, full blood panel and sweat test) to rule out heart problems and cystic fibrosis but everything came back negative, although they did find a UTI and slight ear infection which antibiotics cleared up. She seemed to do better with eating after that and gained again.
Just after her seven month birthday, she became ill. The pediatrician heard crackles in her lungs and a chest x-ray showed pneumonia in the right lower lobe. He commented that the rapid breathing and grunting she was exhibiting was all part of the illness. And suddenly, red flag #2 reared it's ugly head. Um, no, I told him, she does that all that time. I just thought it was a newborn thing. Except that she wasn't a newborn anymore, he said. Time to really worry. I was told we would watch her and reevaluate her in a month once the pneumonia had had time to mend.
But we never had time for that. Right at eight months old, Sophie, still tiny, caught a nasty virus and was rushed to the ER after turning blue with a temp of 105. Very scary. She was admitted and ended up staying in hospital for a week, recovering. During her stay, she was overseen by a fantastic pediatrician who was very concerned with her failure to grow and with her breathing issues, notably her O2 levels lowering drastically whenever she fell asleep. She was sent home with an NJ feeding tube and oxygen for sleeping but no one had any idea what was actually wrong with her. We were scheduled to follow up with a pulmanologist and GI doc within the month.
Enter PROVIDENCE! Well, I know our heavenly Father was already orchestrating each step of this journey perfectly, but he truly did an amazing thing here. My brother, Stephen, (pictured above with Sophie during her first hospital stay) read an online news article about a little girl who needed oxygen 24/7 and had a service dog to help her carry the tanks around. He called me immediately and said that the disease this child had, called NEHI, had symptoms that sounded just like what Sophie was struggling with and we should look into it.
Thankful to have a lead, we talked to the pediatrician and he got us an appointment with as interstitial lung disease and NEHI specialist in our city. The result of seeing this pulmanologist was a five day hospital stay during which Sophie underwent a series of tests (impedance study, sleep study, bronchoscopy and CT scan). The CT scan clearly showed ground glass opacities in her lungs, the classic sign of NEHI. This, combined with her other symptoms, led the docs to give her the NEHI diagnosis. We opted out of the lung biopsy, the ultimate way to confirm NEHI, due to her small size. However, she is officially NEHI according to the docs, at this point.
And so, by ten months old, our baby girl had a clear diagnosis and was on oxygen 24/7. After that second hospital stay, she was sent home without the feeding tube (Praise God!! I hated that thing!) but on a very specialized formula called Elecare. This formula digests quickly and easily and she seemed to like it, so the docs allowed her off the NJ tube "on probation"! She since has not had to go back on it and with the addition of solid foods has gained at her own little pace.
And we got to meet the little girl with the service dog! Alida and her family only live 45 minutes from us (how providential!!) and we are fast friends now :)
In some ways, this was the end of our quest to find out what was wrong with her. In others, its the beginning of our journey with NEHI. Due to the limited information we have about this disease, we take one day at a time. Sophie turned a year in December 2012 and weighed in at 15 lbs. She is still gaining very slowly but loves solid food and feeding herself. Thankfully, she does not have any of the eating issues often associated with NEHI, except the GERD. She has been receiving the RSV vaccine this past winter (shots once a month for five months) to help prevent illness. She does need the oxygen 24/7. If we leave her off it for more than 30 minutes, her levels drop to below 90 and her heart rate rises. Otherwise she is a lively little monkey!
We are so thankful for this little girl and the joy she brings to our family! God has formed her being exactly as He would have it and we know He orders each of her steps and holds her in the palm of His hand, tenderly and lovingly.
|Christy, Andre, Jack (3 yrs) and Sophia (1yr)|
We know how overwhelming this journey and diagnosis can be. If you want to email us for any reason, please feel free to do so: firstname.lastname@example.org.