Osteoporosis and osteopetrosis: "I just have to listen to my body and do what it asks me to do"

Hi CintaA, thank you so much for agreeing to share your experience with Carenity.

First of all, could you tell us more about yourself?

My name is Cinta, I am 65 years old, mother of one son and grandmother of two children. I have been involved in education since I was 20 years old (girls and boys from 3 to 14 years old) and teacher training.

Since I could no longer work at the age of 55 I am part of a group of accompaniment to terminally ill patients who are in palliative care in a hospital and at the same time we are part of an association of meditative practice. I am also in an animal protection association.

You have osteoporosis and osteopetrosis, could you tell us a little more about these diseases? How is the evolution from osteoporosis to osteopetrosis? How long have you been suffering from them?

Actually, one disease does not evolve into the other; they are two different diseases.

Osteoporosis is a skeletal disease characterized by a thinning of the bone (loss of bone mass), accompanied by a deterioration of the microarchitecture of the bone tissue that compromises its resistance, producing a greater fragility of the bones and an increased risk of fractures in the spine and hip.

It tends to appear more frequently in amenorrheic or postmenopausal women, or those who have a decrease in estrogen production by the ovaries and other hormonal deficiencies that would affect bone metabolism.

Osteopetrosis is a genetic disease that, in most cases, is inherited from one or both parents. People with osteopetrosis have a gene that causes the body to produce too few of the cells that break down old bone, or they are abnormal. This causes dense and weak bones. It affects the base of the skull, vertebrae, pelvis and long bones.

Infantile (or malignant) osteopetrosis is fatal. Adult osteopetrosis, in principle and by itself, is not, although it can become so due to its consequences.

Both are asymptomatic in the majority of cases and are usually diagnosed by chance; although there are times, fundamentally in type II, when bone pain or a fracture brings the diagnosis forward and other times osteomyelitis or compression of cranial nerves manifest it.

Together, osteoporosis and osteopetrosis comprise a substantial proportion of the bone diseases that severely affect people.

What symptoms led you to seek help from a specialist? How long did it take to make the diagnosis? How many doctors did you have to see? What tests did you undergo?

I had already been diagnosed with severe osteoporosis since 2009 when I broke my heel, the base of my tibia and fibula, my shoulder and my humerus, all on the left side of my body, in a "silly" fall at home.

When I was admitted to the emergency room and they saw the X-rays, the orthopedic surgeons did not dare to operate anything because, according to them, they did not see the state of my bones clearly, they did not believe they could put any screw or plate without further deteriorating my bones because "with the osteoporosis you have ... better this weld alone ...". The recovery was very long.

The foot became very complicated. I developed a Sudeck's Syndrome that began to deform my foot. With a lot of pain and perseverance we managed to save it although it is not exactly the same as the other one and has left me with a permanent lateral stiffness.

From this first serious accident (falls due to Chronic Fatigue Syndrome I had already had many more), I was never able to return to work and my bad dream of going back and forth to the Medical Court began, which added much more stress to my daily life.

In May 2019, while standing in my dining room at home, I went to step sideways and fell with the result of hip fracture.

They do the x-rays, they do the CT scans, and the diagnosis is quick. From the way the bones have fallen apart, it is osteopetrosis. The operation is not so fast, since I am allergic to metals, I have to wait three weeks to undergo all the allergy tests again and ask for a plastic and ceramic prosthesis.

How did you feel when you were told the diagnosis and were you given all the information you needed to understand the disease?

When I was given the diagnosis I thought "another one on the list". They did give me the information, they explained what it was, although they did not tell me that it was hereditary and in fact, I do not know of any other family member who has this pathology.

But I was well warned that at any moment there could be a fracture of the vertebrae or wrists without the need to make any effort, and here I am, with broken vertebrae, with an orthopedic corset,....

What treatments do you follow, do you feel they benefit you, have you had any side effects?

There is no treatment for osteopetrosis.

For osteoporosis I have been treated for 3 years with Prolia (denosumab, group of monoclonal antibodies) biannual injection, which, judging by the last bone densitometry*, is not having any effect and it does have some side effects but, due to my other pathologies, I cannot be sure that they are due to this specific medication.

*Densitometry is a diagnostic test that measures the degree of mineralization of the bone and that is applied both in the early diagnosis of osteoporosis and in the control of its evolution and therapeutic evaluation.

What are the daily symptoms related to osteopetrosis?

At the moment, and due to the fracture of the vertebrae, I have much more pain than I used to have.

You also suffer from chronic fatigue syndrome and fibromyalgia, do you think that the development of osteoporosis and osteopetrosis was favored by either of these two diseases? What do the specialists say?

The medical team that treats my pathologies consists of the internal medicine doctor, the rheumatologist, two traumatologists, the allergist and a neurologist.

What do the specialists say? That they don't know, they think it is not related.

What do I think? Osteoporosis can be related to the genetic lack of Vitamin D that I was detected at the time of the exhaustive analysis to rule out other diseases. When the normal range had to be above 30 and mine was always between 6 and 9, so the calcium could not be well coupled to my bones.

Osteopetrosis I don't think has any relation, but I don't know.

Do you suffer from any other disease? If so, how is your day to day life with all these pathologies? How do you manage them all together?

Apart from the four illnesses mentioned above, I have the following diagnoses:

• Major depressive disorder,
• Unspecified anxiety disorder,
• Dysthymia,
• Tension-type cephalalgia,
• Migraine,
• Insomnia,
• Iron deficiency anemia,
• Vitamin D deficiency,
• Fracture of vertebrae L4, L5,
• L3-L4 foraminal disc herniation with radicular compression,
• Canal stenosis at L4-L5 due to interapophyseal arthrosis associated with hypertrophy of the capsulo-ligamentous complex,
• Right and left knee chondromalacia grade VI,
• Algoneurodystrophy of the left foot.

I can't plan my day-to-day life in advance and it's actually quite easy to manage because I just have to listen to my body and do what it asks me to do.

If today it's bed all day, which is almost always, then bed; if my body says we can go out for breakfast today, then we both go out. There are no expectations, I live in the moment because I don't know how I'm going to feel in 30 minutes. Many times change happens in seconds.

Do you follow or have you followed any natural complementary treatment such as massage, acupuncture, food supplements... What do you think? Do you feel they are helpful?

I can say that over the years I have tried almost everything. I have tried osteopathy, physiotherapy, massages, spas, cellular biodescodification, phytotherapy... For the last 12 years I have been a vegetarian and I do Zen meditation. I believe that this is what has made me stay calm and accepting (not to be confused with resignation).

Some did help me at the time. For example when I got to the point of taking a lot of medication for pain and depression, I decided to stop it all and gave myself 4 months to do so while I did a detox with phytotherapy.

Then I managed to go almost a year without medication. In the end I had to go back on it but with minimal and of course I have never taken morphine again.

Do you talk easily to your loved ones about the disease, do they understand, do you feel they support you, and the medical staff?

Yes, I can talk to the people closest to me and I know they understand although I also know that it is very difficult to understand some of these diseases when you don't have them and externally you "look fine". It is easier to understand those of the musculoskeletal system since there are MRIs, densitometry, etc. to prove it and, of course, fractures.

"I have also been fortunate to have a medical team from the beginning that DOES BELIEVE in invisible diseases"

What is the impact of the disease on your private and professional life? To what extent has osteopetrosis disabled you? Are there things you can no longer do? If so, which ones?

The impact has been profound. My professional life ended 5 years before my expected retirement age because of my first multiple fracture.

My private life has been from that moment on, a constant adaptation to each new change that has occurred in my body. Return to full use of my left side after almost two years of immobility and rehabilitation. Hip fracture and start walking again.

Now, since January the whole spine issue and completely inactive, with orthopedic brace and waiting for the resolution of the medical team. I cannot make any effort, no housework, practically no driving, walking tires me....

What are your plans for the future?

None.

What advice would you give to patients who also suffer from osteoporosis/osteopetrosis?

First of all, they should ask their doctor to explain very well what type of osteoporosis or osteopetrosis they have.

And secondly, to be very well informed before starting any treatment, to discuss it with their doctor but not to accept it out of the blue, there are different options!

A final word?

Never lose heart. Let's keep going. A hug to all of us who are part of this community.

Cinta