Meet Adonijah - An Awesome Doose Warrior
Adonijah Gadiel Musumba
Gadiel Adonijah Musumba (Ado), the youngest in the Family, was born a healthy boy here in Kampala-Uganda at St. Francis Hospital – Nsambya on September 20, 2018. Like all our kids, Gabriel & Gabriella, he was too active and grew up rapidly. On one fateful morning, when he was 1 year and 6 Months, Ado dropped to the ground and to us it was merely a ‘fall’, it happened concurrently throughout that week especially after sleep. Immediately we suspected something wasn’t quite right. Although we had an unclear picture of what was going on, we decided to visit a health centre III and we were advised to visit a bigger hospital as the issue with our son was suspected to be neurological.
A CT Brain Scan at Mulago National Referral Hospital came back clear showing no physical brain abnormality. Immediately we were instructed to carry out an EEG which came out positive. Our son was diagnosed with a rare disease called Myoclonic Astatic Epilepsy (MAE) or Doose Syndrome. We immediately searched for help and information about this syndrome but we couldn’t obtain any information locally but rather through online research. My wife and I were sick with worry, but we consulted the nearby Doctor to discuss the best treatment for Adonijah (Ado). She advised the ‘ketogenic diet’ as number one best treatment for MAE.
We looked for a dietician here in Uganda and failed to acquire any solely because they are too few and many of them are not in practice. I joined a facebook group page called Myoclonic Astatic Epilepsy-MAE – Doose Syndrome where a friend of mine directed me to an Organisation called Charlie’s Foundation. Upon visiting the page, i started communicating with Doctor Eric Kossoff from John Hopkins University who did a very good job of referring me to the Keilah Foundation solely because they do out reaches throughout Africa. At Keilah Foundation i linked up with a very wonderful Dietician called Katherine Megaw who allowed to take up my son pro-bono. we have ever since been in touch and she prepared me my son’s Keto which she e-mailed me a few weeks ago. We can assure you, the foods prescribed therein were expensive for us to procure in this economic period.
To take you a little back, Ado started with noticeable drop attacks, where he would have a sudden loss of muscle power and sometimes his arms fly out and could be accompanied by a squeaking sound, a grunt or an exhalation of air leading him to drop to the ground lasting for about 2 (two) seconds. These are the most serious and damaging form of attacks and could happen at any time without warning; We bought a helmet to prevent him from hurting himself. He could register over forty in a day. He was initially treated with Sodium Valproate Syrup (Epilim) and we began to see some light in our son’s life, little did we know that this was to last for a week. He registered absent seizures where he could gaze into space. These were accompanied with little jerks of arms, fluttering of eyelids/eyelashes, which numbered too many to count. By end March, with increased dosage of Sodium Valproate, the jerks and absent seizures stopped.
Then Myoclonic Jerks set in alongside, Tonic-Clonics which happened every morning as he woke between 7:00AM and 08:00AM, and then he could play normally with his siblings throughout the day until the next morning. By Mid-April the Tonic Clonics started increasing extending through the day and they could last 60-90 seconds.
We decided to visit our General Practitioner who advised on introducing a new drug i.e. Clobazam 10mg to make a combination with of Sodium Valproate. We praised the Lord for the good days, and thanked him that not every day was a bad day. His morning was very indicative of the type of day he would have – if he only had one seizure in the morning it would be a good day – if he had more than one, it would be a long day because he would be drowsy throughout the day.
On visiting the Doctor 2 months later, our son had reached a weight of 14.8 Kgs as usual; he adjusted the dosage on Sodium Valproate from 200mg to 300mg and maintained Clobazam at 10mg. The doctor however prescribed Epillim tabs as opposed to the usual Epillim Syrup. Our son never had a good day ever since we started administering these tabs to him. Our son again started suffering several types of seizure in the same patterns as before.
Firstly, tonic clonics (the standard seizures where he could become stiff) which currently occur during the night or during the day but mostly after sleep. They usually last 60-90 seconds as before and can be repeated. He has had hundreds of these Secondly, drop attacks. As before, there is a sudden loss of muscle tone where Ado will drop to the ground/table.
Thirdly, Myoclonic jerks Symmetrical jerking of the arms, indicative of deterioration. These really tire him. Can be accompanied with fluttering of eyelids/eyelashes Fourthly, Absence seizures gazing into space these are also regular occurring about 10-15 times a day. It is our belief that the ketogenic diet will give us the ability to reduce Ado’s medications and effectively bring back our son to us and remain (more or less) sane as a family. This amazing treatment, which has few side effects, needs to be offered to our SON in these early stages of the disease. Dr. Katherine Megaw has done us a wonderful job but as i said earlier, the diet sent to me is expensive to acquire coupled with the medication which is also too expensive to procure in this period of time; Transportation to Health Centers, Consultation fees to Nuero-paeds is also too high as it may require us to visit various Neurologists in different levels of the syndrome and finally Dietary fees.
From late 2021, Ado has never registered any seizures and has since started attending School. however, mid last year, i.e June 2022, due to the high price of his medication, we decided to wean Ado off his medication, little did we know that our rather unintended actions will later lead our son into a relapse. On one fateful night, Our son started Hallucinating, were he could start seeing imaginary beings which would scare him deeply, he spent over one month fearing every corner of the House as well as his own bedroom. Upon visiting the Doctor, we were advised to resume his Medication as per the previous Dosage. Untill today, Ado is still taking a combination of Clobazam and Sodium Valproate (Epilim) .
Ado’s class teacher has also been making reports to us that everyday Adonijah has been sleeping in class especially between the hours of 10:00am to 12:00pm, we made inquiries with the doctor and he informed us that we need to undertake a new EEG Test. This is solely to help him understand why our Son sleeps in class yet it is not a symptom of Epilepsy. He added that he requires the EEG test to see whether our Son seizes while sleeping which might be causing the sleep while in Class. We also realized that sometimes, Adonijah stays awake for longer hours before sleeping off at night. Also worth noting is that the LEVEL OF ACTIVITIES in various aspects expected of a child of his age have slowly reduced over time. Ado was active and he could play all through the day but recently, he is reserved and has developed a sense of attachment to particular items such as Playing Toys.
Adonijah in general, has failed to learn how to handle a pencil in class, his speech has also delayed. This is partly because his teachers do not know how to properly handle someone with his condition, were they shout at him leading him to develop a sense of resentment to various people. This has been solely because we have failed to get in touch with a perfect School and the Nuero-pediatrician here in Uganda. The available Pediatricians are extremely expensive and are too busy to schedule an appointment with once required.
I would like to use this platform therefore to humbly request for financial help from whoever is out there with the ability to help. This will help me overcome such financial constraints such that we also fully have our little boy back before he faces some extra developmental delays. I might be out of time but please try and understand that this COVID -19 Situation stalled a lot of activities here as I had to stay home and take care of our son amidst the tight economic situation here in Uganda.
Thank you so much