I’d Never Heard Of ALD/AMN Until The World Collapsed Around Us

By Satish, Adrenomyeloneuropathy, India, April 27, 2018

I had no idea there is such a thing as ALD/AMN though I am now aware.

My son Rohan, had started working after completing his BBA and within a few months he just could not walk. Around this time four years back, my son’s and our world collapsed. My son, became completely paralyzed waist down. 

He had Addison’s Disease since he was 5 years young but was okay with his life long medicines (steroids) which he had to take. A leading doctor in Pune, India (where we live) who was treating him for Addison’s did not even mention (wonder whether he even knew) that we should get his blood tested for ALD/AMN. In fact, we had to send his blood to the USA, where it was tested and confirmed that he had ALD/AMN (which is a gene defect and the mother is a carrier of this and only boys get badly affected).

Last year around Oct. just a few weeks after his 28th birthday, he was admitted to the hospital as he started vomiting blood. He was kept in ICU and had to be put on ventilator and then he went into coma. After a week, he came out of coma and was discharged later on, after being a month in ICU. 

He came home with Tracheal intubation (the placement of a flexible plastic tube into the trachea (windpipe) to maintain an open airway or to serve as a conduit through which to administer certain drugs. It is frequently performed to facilitate ventilation of the lungs, including mechanical ventilation, and to prevent the possibility of asphyxiation or airway obstruction) and Percutaneous endoscopic gastrostomy (PEG) — an endoscopic medical procedure in which a tube (PEG tube) is passed into a patient’s stomach through the abdominal wall, most commonly to provide a means of feeding when oral intake is not adequate.

He was home for another 3 weeks when he had started talking, eating and doing exercises (under the supervision of his physiotherapist) too. However, after this he started vomiting again and had to be readmitted, but sadly he passed away within a few days. 

Although it is a great personal loss, I did learn a lot from my son Rohan. He had an amazing positive attitude towards life.

  • Looking back, what truly amazed me was that my son never even once talked or complained about his pain and discomfort to me or to his friends. 
  • He was a foodie and I remember that just 2 days before he passed away, he told me that since I was now associated with an Indonesian company (Go-jek), I might go to Indonesia some day and whenever I go, I must go to these places to eat some amazing Indonesian food (he had gathered together many videos of these places on his mobile) for he would never be able to go there himself.
  • He loved playing games on his PS4, computer and mobile and would ensure that all these things were clean and up-to-date. Today, I use his mobile since he could only use it for a few days.
  • He was always up-to-date on whatever was happening in technology and loved to read. His room was always filled with books.

Unluckily no medicines exist as of today to cure this gene defect and I sincerely hope that Gene Replacement comes as a solution to this deadly gene defect soon. I was very lucky to have my student friends help me a lot in these very trying circumstances.

Wherever you are Rohan, I am sure you are in a better place. We will always love and miss you.

“No matter wherever you are people, go hug or call your dear and loved ones. Tell them that you love them. Life is all about the people we have.”

 

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