Mrs. Khairunnisha Usmanhaji Patel is a 58 year old woman with a rare heart disease ATTR-CM. Her husband Usman Patel speaks about the her early symptoms, the years it took to get a diagnosis, how her condition affects her quality of life and how she is coping.
What condition does your wife have?
My wife has a rare heart disease called ATTR-CM (Transthyretin amyloid cardiomyopathy).
Can you recall the first symptoms you noticed for which you connected with the doctor? How did the diagnosis come about?
In March 2011, at age 46, Khairunnisha has some difficulty breathing and was diagnosed with Non-Obstructive Hypertrophic Cardiomyopathy and a tiny ventricular septal defect by local Cardiologist in our town in Gujarat. The ECHO showed that her Left Ventricular function was good (Ejection Fraction was 60%), and she was put on Beta blockers and Calcium channel blockers.
In 2014, ECHO was repeated, and everything was almost the same.
In Feb 2016, she experienced some shortness of breath. Her Cardiologist did the ECHO, and saw that her lef ventricular ejection fraction or LVEF had dropped to 45%. CAG (coronary angiogram) was done and coronaries were found normal. He referred us to a Specialist in CIMS hospital, Ahmedabad. Ahmedabad is 200 kms away from where we stay but our doctor told us he was the nearest one that we could consult for special heart issues. In Ahmedabad, the specialist carried out a through investigation. My wife was put on new medications (beta-blocker, diuretics and vitamins) but there was no massive improvement.
It got worse in Feb 2023 and we met him again. This time ECHO showed LVEF had come down to 40% with increase in pulmonary arterial hypertension. This when her doctor suspected Amyloidosis. Advised us to do Serum immunoelectrophoresis, a lab test that measures proteins called immunoglobulins in the blood and cardiac PYP scintigraphy scan and Bone scintigraphy imaging.
In March 2023, Khairunnisha started having upper back pain, and we took her to a CIMS hospital again. ECG was done. LVEF had dropped further to 15%. This was alarming, and we were frightened.
On 10th March, 2023, the PYP Cardiac scintigraphy report came back and clearly stated findings of ATTR amyloidosis. The report was reviewed by her specialist Heart doctor. He advised her to continue her medications but to undergo genetic testing the next day to differentiate between wild-type vs mutant hereditary ATTR. The results of the genetic test came on 30th March, her condition was found to be wild-type. He told us about the new targeted therapy pill that had been recently launched and how it would work. Even though it was expensive, we opted for it. She was prescribed her first targeted therapy pill on 1st April 2023.
How did you take the diagnosis? Did you search online about symptoms or discussed with family or doctor?
Was alone in the room at the time when the Cardiologist told me about her heart failure. He explained the condition to me. We already knew that her heart had enlarged.
In 2023, she was found to have ATTR-CM. At that time, both our sons were present. The doctor has told us that there is no cure. The targeted therapy pill will only provide relief. We did what the doctor told us to do.
What was the initial understanding provided to you by the doctor about your condition?
Doctor said that the functioning of the heart had dropped from 45 to 15%. At our last follow-up, our Cardiologist suggested a heart and liver transplant as LVEF continues to be at 15% and there are low SGPT levels which means that the liver is also functioning poorly.
Do you recall which tests were done for diagnosis confirmation?
- ECHO had been done in 2011, 2014, 2016, 2017
- In 2017, ECG, blood test, urine test, renal function test, random glucose and ECHO
- In Feb 2023, ECHO, Cardiac MRI, blood test, Serum immunoelectrophoresis, and Bone scintigraphy imaging
- In March 2023, ECG. cardiac PYP scintigraphy scan, TTR Gene sequencing test
- In May 2023, ECG, ECHO, CBC, renal function, SGPT.
Did you face any challenges with reference to access/availability of diagnostic tests?
Most tests were done at CIMS hospital where my Cardiologist sits, some were done outside. The molecular gene test was a blood test that was then sent to Bangalore for testing and took few weeks for report to come back. Cardiologist is at Ahmedabad, CIMS hospital which is 200 kms away from my home. We have to travel by train to see him because my wife is unable to sit in the car for such a long journey. In the train, she can lie down.
What was the time taken between initial symptoms to confirmed diagnosis?
It took a long time because it was not clear initially as to what was happening. From start of first symptoms in 2011, the diagnosis of ATTR-CM came in 2023.
Do you have any family history of this rare disease?
No, but did inform the doctor that my grandchild in UK also has some heart problem. He is 15 years old.
Were you recommended any government support/welfare programs? Did you avail benefits from any government support/ welfare programs?
I was told to submit all Khairunnisha’s medical documents at KEM hospital in Mumbai for financial aid as per some new Rare disease policy. I went to Mumbai and submitted her file on 12th April 2023, but have not heard back from them yet.
Did you try to connect with any other support services, patients, or community either personally or virtually?
We have never seen or asked to meet with a counsellor to talk about the health problems. Since this is fairly unknown condition, we have never met any other patient in-person. I would be happy to connect with other patients and their family members to share and talk about our experiences and struggles.
How do you manage daily life?
We both live alone by ourselves. Our daughter lives close by. She comes in when required to help out. Normally, my wife can cook and we have household help for the top work. She cannot climb up the stairs to the 2nd floor, so we have moved to the bedroom downstairs. She has got some benefit from the medication but cannot walk more than 15 steps. Unable to do much work around the house. There is still shortness of breath while walking, has trouble going to shower, changing clothes, climbing stairs to go to the bedroom etc. We have stopped going out, we never go out even for a meal to a restaurant or a wedding or family function. However, we are open to people visiting us at home. This allows us to socialise and uplifts mood.
We did travel to UK few years ago to spend time with my son and his family there. We stayed in the whole time but it was a good change of scenery for us both. We used a wheelchair all the way for her from the car ride to the airplane.
Currently, she has shortness of breath even while sitting. I did take her for a check up to her Cardiologist in Ahmedabad. She also has pain in her upper shoulders and back. All of this is coupled with occasional trouble sleeping.
Do you have any suggestions for support or advice for other patients with ATTR-CM?
My advice to other patients would be to find the right doctor. Our cardiologist gives us good time and advice. He has been honest and straight forward about the condition, and its prognosis as well as treatment options.
