A Diagnosis

For those of you who already got this email, sorry for the repeat:


This week Nora was diagnosed with Crohn's disease, an autoimmune disease that affects the gastrointestinal tract. It is extremely rare in infants and we owe a lot to our wonderful pediatric GI, Dr. Pickens for being stubborn enough to figure out what was going on with our poor little baby. Yesterday Tom and I met with Dr. Pickens and a nutritionist to talk about treatment options, which unfortunately are limited with Nora being so small and so young. It is very different then treating an adult patient or even an older child. Some doctors (Nora's included) believe that Crohn's starting in infancy is actually a separate pathogenic subgroup of the disease, one that unfortunately is still a big mystery in many ways. But the good thing is that research is being done and doctors are finding out more and more each year.

According to Nora's tests (endoscopy, upper GI and colonoscopy), the disease is, at this point, affecting her esophagus, duodenum and ileum (in the small intestine), and in every part of her colon that they took biopsies in. It is extremely painful for her, and it is making her anemic and deficient in various vitamins and minerals and stunting her growth due to the villi in her small intestine being unable to do its job (absorb nutrients) because of the inflammation. However, even among the painful disease and procedures and tests over the last 6 weeks Nora has for the most part stayed a cheerful, smiley, happy baby. She is a fighter in every sense of the word.

This week Nora started on prednisone, a steroid that will suppress her immune system and calm the inflammation. Because of the severe side effects of steroids Nora can only be on it for 4-8 weeks, at which point she will move on to an immunosuppresant called Imuran, which is one of two drugs that comes in a dose small enough for Nora. It has some scary side effects, but we will be staying up on them with weekly blood tests for the first few months, then every three months after we get her up to the right dose and feel good about how it is effecting her body and working on the disease. For the next few months we will have to be very careful in doing everything we can to make sure Nora doesn't get sick - because her immune system is suppressed she will get sick very easily, and because of her disease any diarrhea or vomiting or fever can be very dangerous for her. We love you all, but if you are sick STAY AWAY!!! :-)

We are so fortunate to live where we do and have two amazing children's hospitals withing 40 miles of our house. Dr. Pickens also used to work with the leading inflammatory bowel disease expert on the west coast (Dr. Heimlen in San Francisco), and he has already consulted on Nora's case. We are also blessed to live among so much family and such wonderful friends who have overwhelmed us with their love and support. Thank you!

Today's Update

I know, twice in two days - it's amazing, what can I say.

Just wanted to give a quick update on Nora. She slept relatively well last night and seems to be feeling a lot better today. She had some good laughs with Harper and seemed to be a little more of her feisty, happy self. She does seem rather fatigued and tires easily, that is probably from the anemia. But all in all I feel like I can get back to focusing on more important things like setting my sister up with Nora's doctor.

Nora

I typically like to keep my blog light and funny. No, my life isn't all rainbows and sunshine, I just like to amuse you all with a hilarious spin on motherhood, work, school and all that goes along with those things. Obviously there is some serious crap involved, but personally I think blogs should be funny so I like to turn that crap into lemonade....er something.



However, most of you know that my 9 month old daughter Nora has been struggling for most of her life with pain that we don't know the cause of, and many have asked for an update this week after several procedures and tests. That being said, this post will probably be a downer. There's your disclaimer.



At Nora's one month check up her doc decided she had acid reflux and put her on Zantac. It seemed to work for a few weeks but she was back to screaming and not eating rather quickly. After a change to Prevacid we thought we had things under control until about 5-6 months old. Nora has never been a great sleeper - she typically wants to be held and even then she really only sleeps for a maximum of 3 hours at a time (if I'm super-duper lucky), but around 5 months she took a turn for the worse and was up most of the night screaming in pain. Most nights I "sleep" sitting up in bed with Nora on my chest, or Tom walks her around. Finally at 7 months after insisting to her doc that there was something else wrong he referred me to the GI clinic at Mary Bridge. We saw Dr. Pickens for the first time a month ago today and at that point Nora was off all growth charts and losing weight. He ran blood work and some other preliminary tests to find her inflammtory markers high, white blood cell count high, and red blood cell count low. Although very rare in infants, Dr. Pickens suspected Crohn's and did an endoscopy and flex sig the next week, which showed villi loss in her small intestine, blood in her stomach, and unhealthy tissue throughout her stomach and small intestine.. Biopsies were negative for eosiniphilic disorder (a white blood cell disorder), celiac (gluten intolerance), positive for inflammation, pointing again to Crohn's.



This week he did an upper GI with small bowel follow through (drink barium contrast and take x-rays ALL DAY while it goes through your system), at which point he was convinced it was Crohn's and even started discussing treatment plans. Wednesday we did a colonoscopy to "confirm", but it looked normal. He sent in biopsies anyway and redid her blood work, which showed her still anemic, and her white blood cell count and inflammatory markers almost doubled.



At this point Crohn's is still an option, but it is becoming more and more unclear. We are waiting for more blood results and biopsy results to take the next step. Meanwhile Nora seems to be getting worse each day. Up until the last week she has had horrible waves of pain and bad nights, but other then that has always been very happy, smiley and easy going. If you make eye contact with her she will give you a beautiful, big open mouthed smile. However this week she is not a happy camper at all. She couldn't eat for most of Tuesday and Wednesday because of the procedures, she became very dehydrated, and her blood work on Wednesday had to be taken from a vein in her scalp after being poked twice in each hand and foot. She normally loves to crawl around, get into things, stand up and cruise, but this week she just wants to be held and doesn't even have the strength to pull herself up anymore. Last night she screamed from 9:00pm until 2:45am. I definitely haven't been in denial - I am the one who has been insisting to her doc all this time that there was something wrong - however, this week has been sobering and depressing to say the least.



At this point I feel like I could honestly care less what her diagnosis is - I just want to know so I can take care of her the way she needs. Thank you to everyone who has been a huge support this last month with helping take care of Harper during all the many doctor's appointments, your words of encouragement and your prayers. I firmly believe that Heavenly Father guides people to our lives to help us through challenges and I have seen that this month more then any time in my life.