I would like to share with you all an exciting new treatment for CAH!  It is a pump, similar to what is used for diabetics, that delivers hydrocortisone at a continuous rate of infusion.  My 17 yo son has SWCAH and has been using this pump since last October.  For us, it has been nothing short of miraculous!  In my son’s words, the pump has given him back his life!!!!

 

Almost from the time my son 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.  His 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 and during this period, I often had stress dose him with hydrocortisone.  

 

As you can imagine, I became extremely desperate and changed endocrinologists to Professor Peter Hindmarsh (who is often mentioned on this board in connection with a paper regarding circadian rhythm dosing. We live in the UK.) Luckily, Dr. Hindmarsh took a special interest in my son. After a lot of testing, he discovered that my son was not absorbing the cortisol properly and was metabolising his medication extremely quickly. At one point, he was on a total dose of over 100 mgs of hydrocortisone, given over 6 doses a day, and 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 last year, my son 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 limits.  Even more amazing:  after several days, my son 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 as school and has just written the first part of his A levels. As I said, he was literally given his life back!!  

 

Because the pump is so efficient, we were able to reduce my son’s total hydrocortisone dose after two weeks. Over time, we have been able to continue to reduce my son’s dose.   Compared to the 100 mg that he was getting before starting on the pump, my son needs only 40 mg of hydrocortisone now and is in great control! 

 

The other amazing thing is that my son has also started to grow again, after starting on the pump.  He has even gone up a shoe size!   When he started on the pump at the age of 16, he was 5’ 7".  We thought his growth was finished.  He is now 5’ 8.5 inches. After years of battling weight....either too heavy or too thin...his weight is now stable at an ideal weight.  

 

Everyone is amazed at the dramatic improvement in my son’s health and his appearance!  The terrible dizziness he used to suffer is a thing of the past!  He had sinus surgery earlier this year and sailed through that.  His blood pressure is now stable and his heart rate has improved dramatically!  It is fair to say that he has never felt as well in his life as he does now on the pump!

 My son prefers wearing the pump to taking medication several times a day.  (I suspect that it is also because he now feels alive!)  He does have to change the site every few days, but he is now used to this.  As his mum, it is also reassuring to know that he is getting a programmed amount of hydrocortisone every day....we don’t have to worry about missed doses!  The pump also has a bolus button so that he can self-administer extra hydrocortisone, if he starts to feel unwell.   

 

The pump may not be suitable for all children with CAH but I am so excited and grateful for what it has done for my son that I wanted to share our good news with you!!  I am sure it will have a secure place as a new treatment for CAH!  I am thankful to Professor Hindmarsh (and my son’s endocrine nurse Sinead) for the time and work they have put into developing this method.  Prof Hindmarsh is going to publish a paper on this soon and once he does I will post the link!