Saturday, May 8, 2010

Chelsea's Medical Story

Chelsea was born on March 30th, 2002, at 7 pounds 5 ounces, and 19 inches long. As soon as she was born, it was really obvious that she was a feisty girl that knew what she wanted--and all she wanted was to be in my arms. I held her, she was quiet. I put her down, or gave her to anyone else, and she screamed. So I held her. All the time.

There were no medical problems at birth, she even nursed well at the hospital (but there was no milk yet obviously). But when we went home two days later, everything went a little haywire.

She was unable to breastfeed well, she started screaming all the time, and she spit up large amounts, even vomited, after every feed. I took her to a lactation consultant, and discovered she went from 7 pounds 5 ounces to 6 pounds 1 ounce. She gave me a nipple shield to help Chelsea nurse, but over time, it caused my milk flow to diminish to almost nothing, and she was still vomiting all the time.

She also was always congested, and she choked a lot on seemingly nothing. I knew something wasn't right with her, but I had no idea what it was (I knew nothing about medical conditions back then).

So I took her to the pediatrician's for help. Picture it--I was with Tim, and I was laying my head on the table because I couldn't even hold it up because I hadn't slept in weeks. She was screaming in my husband's arms. The pediatrician came in and said she was fine and that things would get better as she aged.

I wanted to hit the doctor, but I didn't--instead I said okay and tried not to feel like the paranoid new mom that I knew she thought I was.

Things stayed the same for the next 4 months--but when she was weighed for her 4 month check up, she still hadn't gained weight. I tried to pump milk and barely anything came out--so we unanimously started her on formula.

At that point I was relieved because everything about her first 4 months of life was so hard. I just wanted something to be easy at this point--I was just exausted.

The formula filled her up and she actually started sleeping more and screaming less--she was hungry that whole time {insert broken heart here}.

She still vomited the same amount but since she was getting more milk in her, she started gaining weight. She seemed more comfortable, and we thought that things finally were getting better--and they were better until she was 11 months old.

At 11 months, she got croup. Then it became bronchiolitis (RSV). She received steroids for 5 days and then she was fine. But then she got (just) croup again a couple weeks later.

And then again a couple more weeks later.

And then again a couple weeks later.

And then again.

And again.

It gradually got to the point where the croup was only gone for a few days while she was on steroids before it came back again when she went off of them. We were at the peds office all the time at this point, but we never saw the same person--and we never saw our ped.

She started screaming all the time again, like she did when she was a newborn--and this scream was a blood curling pain-filled scream that said, "I'm hurting big time.", only we didn't know why. The more she screamed, the more stridor she would have (wheezing on the inhale due to swollen vocal cords). She developed cough variant asthma--a hard, persistent, chronic cough that made her be attached to a nebulizer every 4 hours 24 horus a day.

Further, she started saying words on schedule but when the respiratory issues got worse, her speech went away.

So back to the pediatrician's we went--but every new person we saw blew us off like we were paranoid new parents.

This went on until she was 19 months old--croup, cough variant asthma, steroids, screaming, vomiting, breathing treatments at the doctor's office, no speech--for 8 months. Yet, no one was alarmed! Well, our speech therapist was alarmed; she felt that Chelsea wasn't talking because she didn't have enough air to comfortably speak.

We were so angry and frustrated--and we had an HMO at the time so our hands were tied behind our backs if our pediatrician didn't think anything was wrong.

Finally, in desperation, we went to our local pediatric urgent care when her stridor got bad again one evening, and God blessed us that night.

The doctor that was working there that night was a pediatric ICU doctor and he was awesome. He listened to her whole story (even though urgent care docs don't typically care about anything except giving you what you need in that very moment), listened to her, and told us that he thought she had Subglottic Stenosis (a narrowing of the airway between the vocal cords), and he referred us to an ENT.

Finally! Someone was listening!

We went to the ENT and he agreed with the ICU doctor, and scheduled a bronchoscopy to confirm the diagnosis.

The bronchoscopy revealed a mild subglottic stenosis but it also revealed that she had really severe acid reflux because her vocal cords were red, inflammed, and appeared to be burned.

He told us to have her ped start her on Prevacid and Zantac (and to this day I have no idea why he just didn't give us the scripts), but our good for nothing ped disagreed and refused to give them to us.

So now we were stuck with this HMO doc that we never got to see in the office, who didn't give a crap about our child, and who was ignoring a specialist's recommendations by not giving us the medications that our daughter needed.

She gave us Zantac, saying that Prevacid was excessive, and because we had no choice at this point, we took it and started it. I asked her if there was any dietary changes we should make to make it better and she told me no because it wasn't a dietary issue.

As soon as I got off the phone with her, I read about acid reflux on-line, and learned that lots of foods aggrevate it. I was so confused because the ped told me the exact opposite.

Meanwhile, Zantac helped Chelsea a lot for 2-3 days--and after that, it was like she wasn't even on it.

So I called our ped again hoping for the Prevacid prescription, but she told me it wasn't possible for it to help and then stop helping--so she decided we needed to stick with it for a couple more weeks. I wanted to strangle her at this point but obviously, I couldn't do that. So I took a deep breath and asked her about the diet again, telling her about what I read on-line.

Her response was maddening--"Well, of course foods that are acidic should be avoided"--and I was flabergasted. She just told me 3 days prior that there wasn't any foods we should avoid!

At this point, it was December--this pediatrician was going on maternity leave and her replacement was starting the next day. We also changed to a PPO during open enrollment and only had a few more weeks to wait. We started counting down the days....

The next day, I scheduled an appointment with the replacement doc--and lo and behold, she was awesome! Turns out her son had really bad acid reflux and saw a particular GI at our local childrens hospital. She gave us the Prevacid, saying that Chelsea "cleary needs it". She wasn't sure about combining the two, but instead of just saying no, she called the GI and asked him...and because he said it was the right thing to do, she gave us the script for both.

We stuck with this ped for months following--she was amazing. The prevacid helped but it didn't help enough. At this point, the ENT and the replacement pediatrician started thinking that the subglottic stenosis was aquired through acid reflux. She was still miserable and still screamed like a newborn baby all night long, unable to sleep.

About 8 weeks into being on Prevacid, in February of 2004, she suddenly developed stridor again. It was more severe than normal, so we took her to the ER. We were at our wits end with all this by this point, and we just wanted something to fix our daughter so we could all stop being miserable.

At the ER, they gave her a breathing treatment, and admitted her. She had never had an endoscopy before, so one was scheduled for the next day.

The endoscopy revealed that she had moderate to severe esophagitis (inflammation in the esophagus) and a moderate sized hiatal hernia (when part of the stomach moves into the diaphragm). The inserted a ph probe and it revealed severe acid reflux--a normal result on a ph study is under 8 percent, and hers was 16 percent even though she didn't have all the prevacid out of her system.
Since she had already been on Prevacid and Zantac for 8 weeks, still had inflammation, still had significant respiratory issues, and since a baby with a hiatal hernia can't outgrow reflux, a nissen fundoplication and hiatal hernia repair was scheduled to be completed during our inpatient stay.

In a fundoplication surgery, the upper part of the stomach is pulled up and around the esophagus, then sutured together so that it creates a tight hold on the esophagus, preventing reflux from coming up. The hiatal hernia repair brings the stomach out of the diaphragm and staples it back in place.
The surgery went well and we were discharged the next day, after what had become a two week stay. We were told to avoid certain foods, to avoid hard coughing, to treat any retching with Zofran, and that she would be unable to burp or vomit. We were also told about gas bloat syndrome.

It occurs after fundoplications because the movement of food and air going down slows down. Air and food can't come up because of the new wrap, so both gets trapped in the stomach and it's incredibly painful.
We had to treat with suppositories to help get the gas and stool out, but as the next few months went by, things loosened enough that the issue finally went away.

In the meantime, she continued to have a horrible, persistent, chronic, cough. We were warned that the surgery could come apart if we allowed her to cough so hard so often, but nothing we did helped it. Finally, June of that year came and she woke up with stridor again one morning. She started crying like she was refluxing she had another endoscopy and we discovered that the hernia repair ripped apart, went back up into her diaphragm and stretched the fundo wrap so far apart that it wasn't working anymore.
We were not happy.

All her symptoms came roaring back, so in October of that year, she had a 2nd fundoplication and hiatal hernia repair--just 8 months after the first one.

This one worked. The coughing went away, the stridor went away, the screaming went away, and the reflux went away. She didn't even have gas bloat syndrome because she developed dumping syndrome instead. While dumping syndrome (food dumps out undigested in watery diarrhea) can be dangerous because of malabsorbtion and weight loss, it wasn't painful--so we considered it better than the opposite that she experienced after her 1st surgery.

We managed the dumping syndrome with high protein, low fat foods. She developed dysphagia and painful spasms in her esophagus when she tried to swallow, and she started to retch (dry heave), so she was started on a medication called nortriptyline to stop all of it. It worked and things were finally calm.

A few months after the 2nd surgery-at almost 3 years old--she finally started talking. She stopped needing the nebulizer completely, she got stronger and she got happier. We finally fixed all of it and we were so happy!

Once this horrible reflux and breathing issues were solved, some other episodic symptoms became more obvious--flushing, itching, hives, mood changes, bone pain in her legs and neck, diarrhea--all masto symptoms, only we didn't know anything about masto and we hadn't even heard of it at the time. The bone pain was so bad that she didn't do any physical activity--even riding her bike or jumping was painful, so she never did any of it.

By this time, I was pregnant with Gavin and was looking for a new awesome pediatrician (the other one left that practice because it was awful and she went to work at the hospital instead). That was when we found Dr. Bev.

She's such an amazing dream.

Gavin was born with similar but slightly different issues and her and I became determined to figure out what was going on with my children. I started researching on-line to find diseases that have acid reflux as a symptom--and I came across mastocytosis.

It sounded like Chelsea, it sounded like me, and it even sounded like Gavin, but the info said it wasn't inherited. Nevertheless, I decided to ask our ped about it, and when I did, she smirked at me. I asked her why she was looking at me that way, and she said, "Mastocytosis is the first thing I thought of when I met you and Chelsea!".

She explained that she was waiting to see if Chelsea developed any skin lesions and she hadn't, so she hadn't said anything. I asked her if she thought it could fit Gavin even though his issues were different at the time, and she said she thought it could but that we wouldn't do any testing on either one of them unless some more concrete evidence presented itself.

Only a few weeks after that conversation, I brought Gavin in to see her because he had a viral rash. While she was looking over the rash, we both spotted a brown spot that was distinctly different from the viral rash spots. She took one close look at it and said, "Now that's mastocytosis!".

We thought it was so ironic because our initial conversation that made her think of it was about Chelsea, not him, because he wasn't even born yet--but here he was with the characteristic spots! So we found a new GI who was better qualified to handle our issues, and we started seeing our masto doc, Dr. C.

Seeing how the Lord connected the dots for us was amazing.

We felt so taken care of.

Chelsea doesn't have the characteristic brown spots that Gavin has although she has some atypical spots on her cheek, neck, and scalp that flush when you rub them (Darrier's Sign). All her other symptoms fit, so she was diagnosed with mastocytosis without biopsying those spots because of their location.

She had another endoscopy and bronchoscopy to do biopsies for mast cells and they came back normal. She had a bone scan and it revealed two mast cell lesions. Her bone marrow biopsy was normal though (thank God, we were afraid it was cancer!).

She was started on Gastrocrom--and she was already on Singulair, Zyrtec, and Prevacid (we chose to keep her on it). She also was put back on Zantac-all these meds are standard treatment for Mastocytosis.

The Gastrocrom took 4 weeks to work but the results were unbelivable. All the symptoms subsided and her bone pain decreased dramatically. She slowly became active for the first time in her life--and although it took a couple years to build up her endurance, she can almost be as active as a healthy 8 year long as she takes her meds and doesn't over do it.

Homeschooling full time has been great at preserving energy so that when she does do something extra that's active, she doesn't end up over-doing it.

Her fundoplication and hernia did come apart agin about 2 years after the second surgery. We were grateful that we at least got two good years out of it though, because in that two years we were able to find out that she had Mastocytosis, and that she had it all that time.

Because she was already on all the masto meds by the time it came undone, none of those old issues returned; she just needed a dose increase in her Prevacid--she went from 30 mg to 60 mg, but the 60 mg works really well.

It was disheartening to know that had we had Dr. Bev as a pediatrician back then, we would have found out she had mastocytosis way before things got out of control and so the two surgeries wouldn't have been necessary. She would have started all the masto meds, started 60 mg of Prevacid, and she would have never had 2 surgeries and years of painful suffering!

We try not to dwell on it too much because what's done is done--we can't change the past. However, we're thrilled with our 3 trustworthy doctors and thankful that she is doing as well as she is now--we hope that she stays this well for the rest of her life!


  1. Don't think about those years before Dr. Bev. When you know better you do better and now you know.

    Poor thing suffered so much, I'm so glad she's doing so well now.

  2. Thanks so much for posting! I was waiting to hear about her!!

    I hope you have a blessed Mother's Day with your two beatiful gifts from God!

  3. That was interesting to read, I'm glad you posted it. It makes me realize how I need to stop and thank the Lord for my healthy blessings. It seems like such a given that kids are healthy- but reading things like this opens my eyes and makes me more aware of all the "what ifs" in life. I'm so glad that you found Dr Bev and that Chelseas health is on the upswing- I hope it stays like that for a long, long time!

  4. Kudos to you for persevering and not just taking those initial peds' word for anything. I know it's so hard but in the end WE are the best advocates for our kids. My son had a speech delay and when I went to the ped at 15 months he pratically laughed me out of the office, telling me "boys talk like cavemen." When I went back another 3 months later and insisted something was not right he said "I'll give you a speech therapy referral if it will 'make you feel better' but there's nothing wrong with him."

    Well, my suspicions were correct, my child had a severe speech delay and sensory processing disorder. Once we were in the hands of good therapists, he made such great strides. I too, think about the months and months we wasted listening to a ped who didn't care.

    Very interesting story to read.

  5. Wow, what a journey you've been on with your kids. Thank goodness they have such a good mom to advocate for them. I am half way through medical school now and I hope to become a "good pediatrician" one day. I will take your story as a lesson and a reminder to always LISTEN to concerned parents! So glad to hear that Chelsea is doing well now. :)


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