Help Baby Alex and Parents Fight Leigh's Syndrome

My name is Melissa and Alex is my nephew. This is a parent-approved fundraiser.

Please help us fund Baby Alex's journey through Leigh’s Syndrome and the accompanying treatments, supplements, travel costs, and Kallan & Jason's numerous days off work. We aim to lessen the burden they are feeling in the simplest way we can - financial support. Every day since Mother’s Day, 2021 have been fraught with tests, appointments, and treatments for baby Alex. With his diagnosis of Leigh's Syndrome and its affects on battling everyday viruses, it is vital that all options are exhausted, and this means major financial hurdles for the family.

The abbreviated version of Alex's story, as told by mom, Kallan, is here:

So, there’s been a lot going on “behind the scenes” since Alex was born. All my life, I’ve wanted to be a mom. I’ve always known in my heart and soul that I need to be and it would happen someday. Most people don’t think about risks or the possibility of devastating outcomes when planning to have a baby, but because of my (family's genetic background), I did. My biggest fear in conceiving a child was that I could potentially pass on the genetic mutation/issue that caused my sisters’ issues. Since we never knew what it was, there was no way to test for it. When Jason and I decided to start our parenting journey, we took a leap of faith, and I did my very best to have a healthy, happy pregnancy & baby. I did the blood test to determine if there were any of 200 various genetic/chromosomal issues present, and all came back negative. I was relieved and hopeful, but still a little weary and anxious. Our world was turned upside down when I suddenly developed preeclampsia at 33 weeks and gave birth to Alex 4 days later! Having a preemie is HARD... especially when they’re extra small like Alex was. In addition to being thrown into preemie life with Alex in the NICU, pumping breast milk every 3 hours, hardly sleeping, and still trying to manage my own high blood pressure, we were punched in the gut with news very soon after Alex was born. One of the nurses told us that a few things came back abnormal on his newborn (blood) screening, it was something genetic, and his results were sent to Dr. Hoganson (the best biochemical geneticist in Illinois) for evaluation. As soon as she told me that, my heart was in my throat. Dr. Hoganson is the one who’s tested and diagnosed (to the best of his knowledge at the time) (my sister) since she was a toddler. I don’t believe in coincidence and I just felt in my gut that there was a connection, and that my biggest fear was coming to life. I sat behind the curtain holding my 4 pound baby on my chest and crying my eyes out because there was already something wrong with him… we weren’t in the clear. We tried not to worry too much and keep our heads on straight until things unfolded and we got more information, taking in every moment with Alex and being so unbelievably, indescribably in love with him.

Several blood tests and a few meetings with Dr. Hoganson & staff later, it was determined that Alex has a mitochondrial disorder, which he inherited from me, and all three of us inherited from my mom. So, literally my biggest fear and worst nightmare has come to life and smacked me in the face. What we know about mitochondrial disorders is that they’re highly variable and can affect people in very different ways from one another and at different percentage levels, which is why my sisters and I all turned out so vastly different. The fact that my mom and I both carry the gene and are mostly unaffected by it is truly amazing. Mitochondrial disorders weren’t even known to exist until 15 or so years ago, so there was no way to know this when (my sister) was younger and going through the testing process. With universal newborn screenings and the advances in science present now, it was caught in Alex very quickly after birth. Learning all of this has been completely overwhelming, terrifying and heart breaking for us. I cannot believe the ONE thing I feared most about having a child is actually happening. We still had some hope, however, because maybe Alex would be like me and turn out okay. Maybe his early delays were due to being a preemie and not the mitochondrial disorder. We had so much hope and gave him benefit of the doubt, and things were looking mostly good for a while. Alex was developing slowly, but was making progress nonetheless.

Some time and more blood tests later, Dr. Hoganson informed us that Alex has the genetic markers for Leigh syndrome, which by its description, we figured out is what my older sister had and why she passed away from it. If it’s not Leigh syndrome, it could be N.A.R.P (Neurological ataxia retinitis pigmentosa.) Based on the profile of that diagnosis, we now know that’s what Kendall has. So, not only does my mom now have official diagnoses for both of my sisters that were never available previously, I now have a (non-specific) diagnosis of a mitochondrial disorder too, and of course so does my son. We know that 100% of his mitochondria is affected by it and the odds didn’t look great for him. Dr. H said the only way to know if he has Leigh syndrome is to do a brain MRI. He told us to look for signs of regression, seizures, negative changes in Alex, and if any of that occurred, it was recommended we get the MRI and confirm. We also started the Early Intervention process to get him therapies to help him catch up in his development, regardless of the reason.

Some time after Thanksgiving-ish, we started to see some concerning regressions. Alex stopped smiling, and then stopped crying. He gradually seemed to sleep more and have less energy in general. He used to “talk”/babble at us all day, and has been gradually doing that a lot less. He used to follow toys and people perfectly with his eyes, and he no longer does that. He no longer has good visual focus and doesn’t make eye contact with people like he used to. He doesn’t often look at me when he hears my voice, and worst yet no longer smiles when he looks at me. I miss his smile more than anything in the world. To top it all off, he started having seizures. Alex is 8 months old and does less now than he did at 6 months. He basically functions like a newborn in most ways. This gradual decline over the last couple months has had us in complete panic and distress, in constant communication with Dr. Hoganson and Alex’s pediatrician, and lead us to getting him the brain MRI and EEG last week. It has now been confirmed that Alex has Leigh syndrome. The prognosis for this is the worst possible outcome. What we’ve been told at this point is that there is no treatment or cure, and kids who show signs of regression this young don’t typically live past their first year or two. They often need G-tubes and seizure medication and basically just symptom management until they die. Dr. Hoganson recommended we take Alex to the Children’s Hospital of Philadelphia, where they have one of the best Mitochondrial Medicine clinics in the world and are more advanced than what he has to offer. Dr. H has had patients who’ve gone there and had success. With the diagnosis and expected outcome we got for Alex, it’s a no-brainer. We are literally fighting for his life now and we’d take him across the world to get him help if need be. Dr. H, as well as Alex’s neurologist both put calls in to CHOP to fast track an appointment for Alex, and we will be taking him there in a few weeks! We’re of course anxious about taking a road trip to Philadelphia with our baby, but we have hope that they can help him and come up with new possible treatments for him.

Needless to say, we have been absolutely heart broken, devastated, crushed with anxiety and depression, exhausted in every way, and not functioning very well with all of this. Watching our baby decline, knowing it’s possible that he might not even survive this, and not being able to fix him kills us. This is a parent’s worst nightmare and I wouldn’t wish it on anyone. Thank you from the bottom of our hearts to every single one of you, know that we appreciate you more than we can say, and your love keeps us going.

If you know me and Jason, you know we don’t back down and we DON’T give up. Our love for our son conquers all, and we stop at nothing. We are not taking this prognosis as a doom sentence and we are doing absolutely everything we can for him, including alternative medicine therapies. Alex has a cocktail of supplements (not cheap!) prescribed by Dr. Hoganson that he gets in two of his bottles every day. He also gets a multivitamin and probiotics in two more bottles. He eats small amounts of baby foods in between bottles. He takes medication for seizures. He gets physical therapy twice a week, occupational therapy once a week, acupuncture twice a week, and chiropractic adjustments once a week. I meditate with him laying on my chest. I massage and stretch him out. Jason and I do his PT and OT exercises with him daily, outside of his time with his therapists. CHOP is our next step, and then we figure it out from there. We are completely consumed with this, but we’re on a mission to save our baby and get him to thrive. What we need from everyone we know is to put out all the good vibes, prayers, love, support, etc. you can for Alex and us