2014 Update

 

December 7, 2014 update:

Peyton Continues to go to Children’s hospital for a hemoglobin test monthly. She continued to get transfused every 3-4 weeks until Feb 27, 2014. In January 2014 just after she turned one, she started high dose steroids. She started the trial at 18mg (6ml) daily which is very high dose. She needed two transfusions during the first month of the trial. Peyton suffered many side effects from the high dose of steroid for an extended period of time. Her cheeks were very enlarged, she had a UTI, yeast infections, thrush in her mouth, high blood pressure, increased appetite and frequent dehydration. At one time she was taking about 5 medications to manage the side effects. Around 9 weeks of the trial and showing no real signs that the steroids were working to produce red blood cells. Peyton’s parents consulted the doctors about putting a stop to the trial and continuing to do transfusion therapy. The doctor encouraged us to give it til the next blood test and then make a decision. We agreed and at that next blood test we were all shocked to find that her hemoglobin for the first time ever had rose on its own without a transfusion.  We gradually started to decrease her steroid dose over the course of many months.  She has continued to respond positively with the decreasing in her dosage.    Today December 7, 2014 her current dose is under 3mg (.9ML) daily which is below the recommended maintenance dose.   After each monthly positive CBC appt we will decrease her dose by .1ml until we  are able to completely stop all together.  We will test her to see if she is able to produce red blood cells on her own without the use of steroids.  It’s possible that the steroids may have kick started her bone marrow into remission.  We will be able to know for sure if she continues to produce red blood cells on her own without steroids for a period of many months.

In June 2014 we finally got a positive test result for partially mutated gene RPS17.  It is not a full mutation so its unknown if this is what causes her to have DBA, but it is associated with DBA.  This gene is found to be mutated in approximately 1% of DBA patients.  The lab that conducted her lab work has only recorded finding this mutation in 2 other patients besides Peyton.  The lab for the purpose of research has agreed to test our blood (Peyton’s parents) to see if one of us carry the mutated gene.  We will find out by the end of this year whether or not we carry the gene.  If we carry the gene we will have a 50% chance of passing it on to another child.  However, it still hasn’t been fully determined as I stated before that this gene is for certain what causes her DBA.  There simply is just not enough research completed on all the genes associated with DBA to verify that no other mutation exists within her genetics.  This past summer just after we gave our blood sample for this study we were surprised to find out we were expecting baby number 2.  Peyton will become a big sister at the end of Feb 2o15 to a little sister, Charlee.  Although the risk is always there that Charlee may potentially be born with DBA there has never been any complications with the pregnancy thus far.  We chose to not worry about the “WHAT IF’S” and simply will accept whatever God has planned for us and Charlee.

Peyton has continued to hit every milestone on time if not ahead of time.  She even started walking before her first birthday.  She’s continued to grow a very large vocabulary and has even learned a few simple ways of communicating through sign language before she became verbal.  She understands everything now a days and always surprises us.  She recently has started potty training and has done a great job of excelling quickly.  She continues to show us that she is determined to excel at things on her own and trying to be miss independent.  She continues to be very petite weighing only 21lbs and being pretty short for her age.  Most people with DBA will always be smaller than the averages for their age.  She is looking forward to being a big sister and practices all the time with her dolls, feeding them bottles, trying to change their diapers, and rocking them while humming a song.  She will be turning two at the end of the year and we are so blessed for the way this past year has been for her.  We continue to pray that the steroids will keep working or that she will go into remission.  She hasn’t needed a trasnfusion since February 27, 2014 and we hope to keep it that way.  We know the road ahead of us is a lifelong journey that will probably bring many more ups and downs, but for now we are truly blessed with success.