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Chris’ Story

Julie Boutilier is a mother from Indianapolis, IN. The above was adapted from an email she shared with us while traveling with her daughter to North Carolina. We are very grateful she offered to share her family’s story with us.

Chris is a teenager from the UK whose CAH is now managed using a pump normally reserved for diabetes. The following is his mother Kathy’s account of his treatment. We are very grateful that Chris and his family offered to share their story with us.

To those of you out there that know Shelby and know about our trips to Chapel Hill, I thought you should hear about our most recent trip. To give a little background, Shelby is participating in a clinical trial study for a new drug that could someday be very beneficial to those with CAH. It could lower doses of steroid, while promoting increase in growth and lowering weight gain—a very worth while effort by the doctors of UNC at Chapel Hill.

In order to participate, Shelby takes this drug daily and we make a visit to UNC once a month. The tests and the drugs cost nothing, but the trips can be quite costly. There are people that pour out their hearts and pocket books and skills to people they do not know. I want to tell you about these people, although I can not tell you their names—they wouldn’t want me to.

“There
are people that
pour out their hearts and
pocket books and skills to
people they do not know. I
want to tell you about
these people. . .”

From the Beginning
It all started with Shelby and me needing a flight. My dad knew a pilot who was part of an organization called Angel Flight. These people ARE angels. They fly kids in need to different hospitals around the country, free of charge. This pilot, that my dad knows, set up one such flight for us. However, due to bad weather, the flight was cancelled. Even though we couldn’t use Angel Flight for this trip, this gentleman, along with some other pilots at the Grenwood Airport, took up a collection for Shel. It was not a small amount of money and it is what we use to pay for food and expenses when we make the trip.

We were finally able to take one of the Angel Flights. It is two legs of flights, one from Greenwood, IN to Beckley, WV and one from Beckley to Raleigh, NC. Our trip home was the same. I was humbled by the kindness those men showed Shelby and me. They fly their own planes, with their own gas and time for total strangers.

About Our Pilots
Our first pilot was in his 60’s with grown children and a beautiful plane. He was active in volunteering for Ducks Unlimited and other organization and flew for us. Why? I don’t know.

The second man’s aircraft was much older and a little slower, but the man had the same background. He, too, was in his 60’s, volunteered for a soup kitchen and was on it’s board, had a wife of 40 years, grown kids and had cancer. Yeah, he had his own problems, but he wanted us to be his 45th Angel Flight.

Our Journey
This journey keeps getting more and more intense for us. We stayed at the Ronald McDonald house. In our room was a journal of those who have been here before us. They speak of little lives that are in one place—in God’s hands. No one else knows what will happen. Every one of the letters acknowledges a total lack of control.

So, that’s it. That is what I’m here to tell. This woman, who a year ago was in tears and panic stricken at the thought of flying, has now been on over 20 flights in 5 months. I’m not over it yet, but through the knocking knees and bloody noses I’m learning. Like each parent in the journal knows, we just aren’t in control.

Good News
Shelby has lost a pound and gained and inch as of this appointment. Hopefully, this is a sign of good things to come. Our flight going home on Angel Flight was cancelled due to ice in the clouds (SCARY), so we were left in Chapel Hill a day longer than expected. (It was 70 degrees there, and the cherry blossoms were in bloom, so this was not a hardship). We took a commercial flight home the next day. The people at Enterprise Rental knew we were with Angel Flight and waved any extra fees for our already reduced car rental, and the Ronald McDonald house is let us stay an extra night.

“In Chris’ words,
the pump has given
him back his life!!”

person has it to varying degrees and reacts to the medication differently, which makes it such a difficult condition to treat. Some children seem to have no problems and manage very well, whereas others do battle as my son Chris has. However, I would like to share with you all what I consider an exciting new treatment for CAH! It is a pump, which is used mainly for diabetics but delivers hydrocortisone subcutaneously at a continuous rate of infusion. My 18-year old-son Chris has SWCAH and has been using this pump since October 2004. For us, it has been nothing short of miraculous! In Chris’s words, the pump has given him back his life!!

Almost from the time Chris could first talk, he complained of very bad headaches. He would also always tire very quickly and continually battled with his weight. When he started puberty, things got even worse. Chris’s levels became almost impossible to control and his general health deteriorated significantly. He started to lose weight rapidly; had no energy and no muscle tone; often suffered from severe nausea and lived with a constant headache. At times, he would faint for no reason. During this period, I often had to stress dose him with hydrocortisone.

As you can imagine, I became extremely desperate. We then changed endocrinologists to Professor Peter Hindmarsh, who took the time not only to listen but hear all our problems and luckily took a special interest in Chris. After a lot of testing, he discovered that Chris was not absorbing the cortisol properly and was metabolising his medication extremely quickly. At one point, Chris was on a total dose of over 100 mgs of hydrocortisone, given over 6 doses a day, yet still his CAH was completely out of control.

Prof Hindmarsh then spent months developing a formula for Continuous Subcutaneous Hydrocortisone Infusion via a pump. He worked out the doses so that the pump could deliver hydrocortisone at rates which mimic natural circadian rhythm.

In October of 2004, Chris was started on the pump. Miraculously, his 17–OHP level came down to normal ranges within hours! His androstenedione and other adrenal hormone levels all also came down to within normal range. Even more amazing: after several days, Chris was headache free for the first time in years and his nausea disappeared. After missing 2 years of school because of illness and requiring a home tutor, he is now back at school and has just written his AS levels. As I said, he has been literally given his life back!!

The pump is so efficient, that we were able to reduce Chris’s total hydrocortisone dose after two weeks. Over time, we have been able to continue to reduce the dose and his CAH now is very well controlled! The other remarkable thing is that Chris has also started to grow again, after starting on the pump. He has even gone up a shoe size and after years of battling weight, either being too heavy or too thin, his weight is now stable.

Everyone is amazed at the dramatic improvement in Chris’s health and his appearance! The terrible dizziness and nausea he used to suffer is a thing of the past! Chris had sinus surgery earlier this year which he sailed through, whereas previously he was always unwell after an anaesthetic. Chris’s blood pressure is now stable, his heart rate has improved dramatically, and he no longer suffers the terrible headache that even painkillers would not touch. It is fair to say that he has never felt as well in his life as he does now he is using the pump!

Chris was at first apprehensive when changing the infusion site, (where the fine cannula enters his skin) however it is now part of his normal routine. It does take effort and discipline, which would make it unsuitable for people who are noncompliant with taking medication. Chris prefers wearing the pump to taking medication several times a day. (I suspect that it is also because he now feels so much better!) He also develops lumps under the sites, which I have been assured by a dermatologist will cause no problems; I believe this happens with some diabetics too.

As his mum, it is also reassuring to know that he is getting a programmed amount of hydrocortisone every day, as we don’t have to worry about missed doses! The pump also has a bolus button so that Chris can self-administer extra hydrocortisone if he starts to feel unwell. The pump allows you to switch to double dose or triple dose so that, even in sickness, you know that the medication is going into the body. Before the pump, Chris would have to be admitted to hospital if he was vomiting as the tablets would not have been absorbed.

When we need to fine tune the doses it can be done precisely, with no worries about trying to cut quarter tablets. Another big plus factor with the using the pump, is that Chris has been able to program it with different rates for different situations. For example, during his exam period, with Prof Hindmarsh’s help, we worked out a special rate to enable Chris to have more hydrocortisone during the most stressful periods of the day.

The pump may not be suitable for all children with CAH but I am so pleased and grateful for how it has helped Chris. I am sure it will have a secure place as a new treatment for CAH for those who need it! I am also indebted to Professor Hindmarsh for his time interest and hard work he has put into developing this method and for helping Chris and extend a special “Thank you” to Sinead Bryan, Chris’s endocrine nurse, for her unfaltering support, encouragement and help. 

To learn more about insulin pump hydrocortisone delivery click here.

Kid’s Corner

Hello, my name is Lillian Nicole Kelly. I am 13-years-old and I have salt-wasting CAH.

I think sometimes it’s not fun to have CAH, because I have to go to the doctor all the time and always have to have blood work done. Some of the kids at school don’t understand why I miss school so much.

In the summer, I have to be careful not to get too hot. One time when I was playing softball, I got too hot and passed out. When I play basketball, I get too hot from running.

I wish that all of us with CAH would have a place to go in the summer so we could get together and have time to know more kids our own ages with CAH. Maybe some day. I got to meet Kelly and her daughter once, it was great. They are so nice.

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