My name is Nancy, and I am a mother to a beautiful 3-and-a-half-year-old boy, Harvey. Harvey suffers from a rare disease called SMA (Spinal Muscular Atrophy) Type 1. Harvey was diagnosed at 4 months old after admissions to the ICU, and almost loosing him a couple of times. He is a fighter for sure.
Spinal Muscular Atrophy affects all the muscles in the body, they grow weaker in time to a point where he cannot feed or even breath on his own. We were discharged from the hospital after a long stay but on life support, Harvey needs 24-hour nursing care, daily chest physiotherapy and regular occupational therapy.
All these have drained us financially not to mention the cost of the ventilator, monitor and suction machines, which raise the electricity bill through the roof. We are appealing for assistance in any kind of way and help in raising awareness on SMA. The Prognosis for SMA Type 1 is usually poor with most cases not surviving beyond their 2nd birthday without medical intervention. Treatment is available in the US but being a new drug, it is extremely costly (at 750,000 USD for the first year and 350,000 USD the second year) but we live through faith that God will make a way.
My name is Patricia Karani and I suffer from hereditary Angio oedema which is a highly misdiagnosed rare condition whose global prevalence rate is approximately 1 in 30,000 which means that a quarter of a million people worldwide suffer from this rare and potentially life-threatening deficiency.
Hereditary Angio oedema is a potentially life-threatening condition that occurs due to defects in the gene that controls a blood protein called C1 inhibitor. It is characterized by episodes of oedema (swelling) in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.
It is a condition that mimics allergy and it has NO CURE. However, a patient can realize a more normal life with the right knowledge to better manage the condition and with accessibility to modern medications which are currently not available in Kenya. These modern emergency medications are also highly expensive.
I was diagnosed at 18 years old after my first swelling at the age of 8 years. Other HAE patients in my family are my grandmother who died from a HAE swelling to her neck, my father and my two brothers.
My childhood was nothing but bliss and fun. At the age of about 8 years, I was hit by the edge of a window while being my normal boyish self, running around the compound while playing hide and seek. I developed a swelling that was larger than usual, but I never thought of it as anything serious. Several other incidents occurred later, and a milliard of problems began once I reached puberty, which really brought down my once confident and free-spirited nature. I became conservative – a closed human shell. I became very selective about whom to interact with when I was feeling unwell. After a series of misdiagnosis, I met a doctor who called it
“Angioneurotic edema”. The next thing that came from his mouth was “There is no cure – you have to just learn to live with it”. My heart sank!
I met a lovely lady one day from the Hereditary Angio Edema support group in the Unites States who had children with HAE and who was looking for a HAE patient in Kenya. She advised me to look for a certain medication. I now realized that this illness requires one to be in control of one’s own health and in charge of one’s own happiness. Now I am happier, and I can manage my condition with a positive attitude.
I was appointed HAEi Regional patient advocate for patients in Africa and I am also the president of HAE Kenya support group. I never in my wildest dreams imagined that an illness that had plagued and tortured me for so long would one day make me have confidence enough to stand and speak in international gatherings and give hope to others. HAE Kenya was established as a member organization by the umbrella HAEi which is a patient networking organization.
Our journey into the rare community came in the form of a very handsome, very calm baby boy called Morgan. At the 8-month pregnancy scan, a visibly worried radiographer informed me he couldn’t see a part of the brain called the cerebellar vermis which mostly controls balance and coordination. The initial diagnosis at the time was labelled as Dandy Walker Variant. Information on the net was very scanty at best but the prognosis seemed good.
After his birth Morgan battled severe jaundice and needed urgent medical attention which included immediate blood exchange. With the surgery out of the way, he went on to later develop a serious intestinal disease called NEC. After a harrowing 21 days in both the ICU and NHDU we were glad to eventually take him home. However, the doctors noted he appeared “floppy” and at 4 months a brain MRI was done and we received the correct diagnosis of Joubert Syndrome.
The hallmark feature of Joubert Syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain MRIs. It’s symptoms are delayed milestones in children, low muscle tone, abnormal breathing patterns, abnormal eye and tongue movements and sleep apneas. Additionally JS can include a broad range of other abnormalities to other organ systems eg retinal, kidney, liver and endocrine problems.
At 3 years, Morgan is still unable to stand independently but can sit well when positioned. He has regular occupational therapies (OT) every week to help him achieve his milestones. He is a jovial and easy child with an irrepressible fire, he works very hard in his OT sessions. It’s exciting to see him achieve his milestones albeit alot slower than most. He displays very advanced empathetic tendencies, and on occasion gets very affected by whatever is happening in his surroundings.
The journey for us as a family has been bittersweet – on the one hand there is the financial strain from medical bills, constant hospital visits and time away from work, coupled with the emotional turmoil. On the other hand he has qualities that a “normal” kid doesn’t have and he has a way of making everyone who meets him just beam with pure joy.
After episodes of frequent falls and difficulty in getting up from the floor and climbing stairs, we sought to find out what could be ailing our son Marvin on November 2015, then he was 8 years of age. He was then diagnosed by Dr. Makewa – Paediatric Neurologist at Kenyatta Hospital who gave us the diagnosis of Duchenne Muscular Dystrophy.
Other signs we observed were walking on his toes, difficulty standing from a sitting position, low energy levels and appetite, enlarged calf muscles, weak limb muscles, a bouncing dainty-like walk, tendency to avoid outdoor activities and poor concentration. We then sought to get further help and Googled available treatment methods.
After some consideration – we took a leap of faith and decided to travel to India and started him on stem cell therapy in December 2015. Stem cell therapy is a new technology where one’s own cells are harvested from the bone marrow, cells are then purified in a lab and good stem cells are re-injected back to ones body to boost affected areas. This therapy is used to treat other neurological disorders like autism, cerebral palsy, dementia, mental retardation, brain injury, spinal cord injury, stroke and other motor neurone diseases.
Within 3-6 months of undergoing stem cell therapy, he was already showing quite alot of improvements. He became more active and started playing with his friends outdoors instead of just watching tv the whole day. He could ride his bicycle longer than before, his concentration and handwriting in class improved, while frequency of falls reduced from an average of 3-5 per day to about 2 in 2-3 days.
Our son takes alot of supplements to boost his immunity an average of 9 tablets every day; in addition he does at least 45min of physiotherapy exercises at home.
Marvin has to undergo the stem cell therapy in India every 6-8 months as this is the only way medically available that can help in ensuring his muscles do not deteriorate.
We look forward to the day a permanent treatment will be available and a time when the world will be Duchenne-free.
Conn’s Syndrome /Primary hyperaldosteronism is a rare health condition that mostly occur due to unknown causes and some
as a result of somatic gene mutations, hyperplasia and Adrenal tumors causing autonomous production of Aldosterone leading to electrolyte imbalances in the body.
The condition affects 1 in a million documented patients and about 20 percent of patients with hypertension which is difficult to control thus exposing one to cardiovascular disease which is the leading cause of morbidity worldwide and many other health disorders. The affected population represent a full spectrum of ethnic diversity mostly affecting women more than men.
The main challenge facing patients suffering from this condition is lack of proper diagnosis and timely treatment. It equally takes long to get a diagnosis because of the various awful symptoms that mask the main condition, so patients end up managing symptoms instead of digging deeper to the root cause of the disease and these affects even those in developed countries therefore shortening their life expectancy.
My long and exhaustive journey began 8 years ago when i started experiencing extremely abnormal fatigue, muscular pain, numbness of extremities, tachycardia and much more which i assumed was due to my busy schedule but it persisted till i couldn’t take it anymore pushing me to seek medical attention not knowing I had started a long and tedious path searching for answers to the puzzle that am yet to unravel.
My life took a drastic turn, as I became a constant visitor in the hospital corridors in search of answers that am yet to find. After running several tests results kept coming out normal but my condition was worsening by the day. With further testing we hit
the jackpot so I thought as i got the first diagnosis Hypokalaemia which ended up being just a symptom among the many that are the outcome of high Aldosterone levels in the body. My symptoms became unbearable which saw me running in and out of hospital even in the wee hours of the night which was quite draining. With the help of my doctor, we decided to have some of the tests done abroad and I finally had a diagnosis. I still thought I was there, but it was yet another new and different turn trying to find a specialist and finally put an end to the traumatizing journey.
This condition is curable all that is needed is early and proper diagnosis then finally surgical intervention or proper medical treatment for hyperplasia cases.
I share my experience as an awareness tool to help someone who could be suffering with similar symptoms not knowing what could be wrong especially if you are between 30 to 50 years of age
and experiencing the above-mentioned symptoms, episodes of hypertensive crisis and you have a long prescription to help manage your blood pressure kindly seek for a second opinion and don’t hesitate on finding all the answers to your health. There is hope in the end and we shall overcome and rise again.
As the rare disease’s community, we join hands to create awareness worldwide to empower support and positively impact lives of those affected. These health conditions affect a large population but due to their rare nature most remain undiagnosed. Come ride with us and let’s create a better caring and loving world. Together we are stronger alone we are rare.
My name is Maryanne Njuguna and I have been living with Narcolepsy type 1 ever since I was 14 years old. I was diagnosed with the condition when I was 18 years this was after years of misdiagnosis and receiving wrong treatment.
Narcolepsy is a chronic neurological condition that impairs the brain’s ability to regulate the sleep-wake cycle. A related condition, idiopathic hypersomnia, is a chronic neurological disorder marked by an insatiable need to sleep that is not eased by a full night’s slumber. Narcolepsy and idiopathic hypersomnia affect over 3 million people worldwide, yet the majority of people living with these conditions are currently undiagnosed, misdiagnosed or receiving wrong treatment. Narcolepsy is also unfamiliar to many doctors thus the prolonged diagnosis period.
In Kenya and across Africa Narcolepsy and other sleep disorders still remains unfamiliar to many and misunderstood by those who have heard about it. Some communities associate Excessive Day Time sleep with witchcraft thus many individuals do not seek medical assistance.
I used to experience sudden, uncontrollable sleep attacks at any given moment, doing just about anything, and I mean, anything. For instance, cooking, eating, writing notes in class, standing up,
in the middle of a conversation, at the salon when my hair is being done, while queuing at the bank or bus stop, while bathing or even walking etc. of which I still do up to today.
It was not easy in high school because I used to fall asleep during lessons and exams. I was always behind syllabus because if during preps or any time I held a book I fell asleep. The ripple effect was poor performance. There was a time I felt that I was bewitched, because doctors said I was healthy and could not explain my sleepy nature. Teachers thought I was lazy and rude because of the tendency of falling asleep in class and lack of taking notes got me to do a lot of punishments, which I also fell asleep while doing them. I used to take a lot of toilet breaks, which I used for taking naps. The toilets offered a safe space for me to avoid getting caught and being punished.
With the challenge I experienced in high school you can imagine what a person living with Narcolepsy goes through during employment and or a relationship.
Narcolepsy has no cure. Though expensive and scarce treatments are available today and can improve symptoms of narcolepsy. Symptom management varies widely by person and it often takes a long time to find an optimal combination of treatments.
Narcolepsy is a daily/hourly journey, for we experience the symptoms throughout the day and whenever we are emotional and apart from being out of treatment the other major challenge, we all experience is stigma. Raising awareness on the existence of sleep disorders in Africa is very important, Sleep Disorders are not a ‘mzungu’ condition and we are not cursed as some would say.
It will also assist in minimizing stigma and also reach out to those who have the symptoms and have been unable to be diagnosed by the doctors.
Narcolepsy being so rare only a handful of people know about it and are able to distinguish the symptoms. That is why awareness is very important and I’m happy that Rare Disease Day acknowledges Narcolepsy and helps to create awareness.