Conversations:
Linda, thanks so much for speaking with you CONVERSATIONS today. Tell us about CTTP. What does that stand for? What type of disease it?
Linda Bonilla:
Thank you for having me. CTTP stands for Congenital Thrombotic Thrombocytopenic Purpura. It’s a form of anemia in which the body does not create or destroys platelets in the blood. Platelets are vital in clotting and bleeding. It’s an extremely rare blood disease which happens to be genetic.
Conversations:
How are were you when you were diagnosed with it, Linda? How did it manifest itself?
Linda Bonilla:
I was actually born with the condition. There were some complications when I was born, and since my brother has the same condition, the doctors were able to immediately test for Congenital Thrombotic Thrombocytopenic Purpura (CTTP).
Conversations:
Makes sense. How old was your brother when he was diagnosed? Do you know how it manifested itself to get to this diagnosis?
Linda Bonilla:
I’m not totally sure about the details of his diagnosis, but it was shortly after he was born. He was born in 1987, I was born in 1992, so there were about 6 years of doctors figuring out what Congenital Thrombotic Thrombocytopenic Purpura (CTTP) was in between. I believe they had been testing for multiple diseases when he started having complications, but I don’t know how they were able to diagnose him with the disease.
Conversations:
Yes, it’s crazy rare disease with fewer than 100 people in the US with it.
Linda Bonilla:
We still aren’t sure from which side of the family we got the disease from either. As far as we know, we are the only two in the family with Congenital Thrombotic Thrombocytopenic Purpura (CTTP).
I completely agree! It’s wild. Doctors are always amazed when I tell them I have the disease.
Conversations:
How old were you when you had some “understanding” that you had a rare disease like this? How did you doctor? Parents? Brother? Explain it to you . . .
Linda Bonilla:
Since I’ve had this my entire life, I never knew anything different, but it wasn’t until middle school when I was about 12 or 13 when I realized I would have this for the rest of my life. My mom was always the one to take me to doctor’s appointments and treatments, but my doctors and nurses were the ones who helped me fully understand the disease. The older I got, the more questions I asked. I also did a ton of research on my own, reading journals and studies I found on the internet. I’ve definitely become an expert in this disease.
Conversations:
We’re fortunate to be speaking to you today, Linda.
We’re you sick as a child? What type of treatment did you have then?
Linda Bonilla:
I had a relatively normal childhood. No major hospitalizations or anything, my treatments were done in a pediatric outpatient center where I would routinely receive fresh frozen plasma transfusions to keep my platelet count up. This is the standard treatment for those with Congenital Thrombotic Thrombocytopenic Purpura (CTTP).
Conversations:
Yes, indeed. How often do you get the plasma? Is it all covered by insurance?
Linda Bonilla:
I go in every 2-3 weeks. It’s covered for the most part aside from my co-pay. Having good health insurance is definitely a huge priority in my life, which is something not too many 26 year olds have to worry about.
Conversations:
Yes, it’s paramount. I know this disease like all diseases can be very variable with different “levels of sickness.” Does your brother have the same level of sickness as you? Are other folks sicker? Not as sick? What factors are involved in how people are affected?
Linda Bonilla:
My brother has had many complications with this disease, including being on the brink of kidney failure and having a couple of mini strokes. I’m not sure what factors are involved in how people are affected to be honest. I know others with this disease struggle on a daily basis and others live a normal life with no complications. I am lucky to fall into the latter category. I tend to view this disease more as an inconvenience more than anything.
Conversations:
You are fortunate with that, Linda. You had mentioned that you’ve hit the internet hard and become an expert in this. Take us through some more detail as to how you executed your research, where you turned to, what you’ve learned, etc.
Linda Bonilla:
My research started when I was in high school and was gifted a laptop. I remember one night googling TTP and got a ton of hits for the disease. I definitely fell into a rabbit hole of reading various journals and articles. I was able to find out that there was also the acquired version of this disease which is more common than the genetic disease. Since I was only about 16, there were a lot of science terms I wasn’t familiar with until I went to college and started taking medical terminology and biology classes. I find the disease pretty fascinating! I was also able to find out that the specific enzyme that our bodies fail to create is called ADAMTS13. I recently found out that there is currently a clinical trial in which scientists were able to create a recombinant gene and they are testing to see if those with CTTP can take this in pill format instead of having to go in for blood transfusions. This is all super exciting to me. I HATE having to dedicate an entire day for a transfusion which by the way always holds some risk of being exposed to blood transmitted diseases.
Conversations:
Yes, there’s some exciting development of treatment for Congenital Thrombotic Thrombocytopenic Purpura (CTTP) that has been going for years now.
Going back to an earlier allusion, there are likely many people who have this disease and do not know it?
What should a patient or a doctor be aware of ? To raise the possibility of Congenital Thrombotic Thrombocytopenic Purpura (CTTP)? And that they need to be tested for it? What other diseases are often confused with it? Diagnosis is such a crucial issue for rare diseases.
Linda Bonilla:
I guess patients need to be aware of any strange symptoms like bruising, red spots on the body (petechiae), and neurological symptoms like confusion or headaches. I have to say that these symptoms are pretty vague in that they can apply to many other diseases. I don’t think Congenital Thrombotic Thrombocytopenic Purpura (CTTP) is on the radar of the majority of doctors that are working on diagnosing a patient. I have been told on numerous occasions that I am the first patient they have worked with to have this disease and that they barely learned about it in medical school. It doesn’t make me feel better when they say stuff like that. I think it should be mandatory for doctors to learn about all rare diseases.
Conversations:
That’s a good point. Are there any expert doctors who specialize in Congenital Thrombotic Thrombocytopenic Purpura (CTTP)? If so, who are they?
Do any of these doctors have more than 1 Congenital Thrombotic Thrombocytopenic Purpura (CTTP) patient?
Linda Bonilla:
Dr. George in Oklahoma is known the be the “Father of CTTP” in that he is responsible for a lot of the research done for this disease and currently running a registry that accounts for everyone in the US who has the disease.
Hematologists are the doctors to go to when dealing with blood diseases. My doctors have never had any patients with this disease aside from my brother and I.
Conversations:
How many people does Dr. George have in the registry? Can you share a link so other people can sign up for it? Find it?
Linda Bonilla:
I’m not sure if it’s available online but I can find his information in a second. He is always more than willing to talk about the registry and provide more information.
james-george@ouhsc.edu
Conversations:
Yes, please because I want others to be able to find it if possible.
Linda Bonilla:
No problem! There are also a few Facebook groups I am a part of where many of us share resources. One of the groups is specifically for Congenital TTP.
Conversations:
CTTP is a congenital disease. What are the chances that you pass this on to your children? Is it 50 to 50?
Linda Bonilla:
I am not quite sure what the chances are. My brother has 3 daughters and none of them have it. I don’t plan to have kids, so I know I won’t be passing on the disease 🙂
I have also been told by Dr. George that he has had patients that have successfully had babies with no complications and they do not have the disease either. I think it’s a recessive gene, but unfortunately, I haven’t been able to find any more information.
Conversations:
You’ve been extremely helpful, Linda. One final other question. Any other resources regarding CTTP that you can share that other people with Congenital Thrombotic Thrombocytopenic Purpura (CTTP) should be aware of? Support groups? Websites? Research opportunities?
Linda Bonilla:
It has been my pleasure! I think the biggest resource I can suggest is speaking with Dr. George for sure. If you Google his name and TTP, you’ll find a plethora of his journals and even videos of him. The next one would have the be the Facebook group called “TTP (Thrombotic Thrombocytopenic Purpura) Supporters”. This is the largest group I was able to find, and most of the members are those affected by acquired TTP, but I have been able to find a lot of information through this group.
Thank you so much for speaking with me today!
Conversations:
Thanks for speaking with us, Linda.
