My son, Sean, is 10 years old. Diagnosed with a rare disease this summer, that could have possibly diagnosed and treated if he was tested as a baby for the disease. It was uncovered after an unfortunate event.

On August 9th, 2023; Sean was out playing in the park with a few of his friends. I went to check on him, as a typically do and also to call him in the house since I was leaving out and planned to be gone for awhile. 

I couldn't find him. I seen children playing but not my child. So I went to check by his favorite spot...by the creek. I did find him. Unresponsive. Once I found him and check to make sure there was no injury and that he was breathing. All the while alarmed but not trying to panic I called 911. 

While on the phone with the dispatcher, Sean began to seize. He has had no history of seizures. Only health issue Sean has had previously was allergies and asthma. Sean seized for 15 minutes. We got to the hospital and he remained unconscious until 9 pm that night once he stopped seizing...I found him at 1pm. 

It was found that he has a genetic disorder, X-Linked Adrenoleukodystrophy. There is no cure, only treatment. He was scheduled for bone marrow transplant November 2023. And after all the preliminary testing they found that the disease has deteriorated in his brain further, so the only treatment that could have prolonged his life could no longer be done. The advice from the doctors, make as many memories as you can while he can still function. 

What happens with this disease is it deteriorates the membrane that covers nerve cells in the brain. ALD ALD prevents the body from breaking down very long chain fatty acids (VLCFAs), causing these fatty acid chains to build up in the brain, nervous system and adrenal gland. The accumulation is thought to cause inflammation in the body, damaging the myelin sheath.

As a result, levels of these fatty acids build up in the brain and nervous system, preventing nerve cells from sending signals to the body. Symptoms of ALD may include difficulty swallowing or understanding speech, impaired hearing or vision, muscle spasms, and seizures.

It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs. The other forms of this disease are milder.

We have chosen not to tell Sean everything that is going on so he can just enjoy life. Pure and freely.

So this is why we are here. We are unsure of the time we have with Sean so we've (our family) been taking off every so often so we could just do fun activities and take many pictures. Sean is my baby boy, at this point I just want to take him as many places as he can go to just enjoy himself with his family. If it's a road trip through the continental US that can be great. Anything he has even as a thought in his head, I want to do for him.

 

He is such a wonderful kid. He's made so many friends in our neighborhood since we've been in Maryland. Children and parents alike always tell me how awesome they think he is. Sean deserves the world in my opinion just off of how caring he is towards others. He's such a gem, I just want to be able to take him to as many places in this world so he can experience whatever time he has in it.  When the time comes hopefully, we will have enough saved so I am able to be home more with him than the need to work.