Moving into unknown territory

I grew up around children, and a lot of them. My mother was a stay at home mom for most of my childhood and operated an in home daycare for many of those years. We were in sports and scouts, and had get togethers with families and children of all ages throughout my life. Before middle school I started babysitting regularly. My first job, although short lived, was at a daycare and most of my jobs since then have been working with children. I had been responsible for children as young as 6 weeks and up to 18 years old. I've worked with children with complex medical conditions and those with psychiatric conditions. Prior to Elliot's birth, my experience had me feeling pretty confident moving into my role as a mother. Despite all my experience, I still have moments where I feel utterly unprepared to be Elliot's mother. I know all parents question if how they are parenting is right, so there is some comfort in that. However, that doesn't always keep the doubts at bay.

Earlier this week, I was compiling a list of Elliot's specialists and requesting his records from Vanderbilt Children's Hospital to give to his pediatrician. In his 17 months of life, just at Vanderbilt alone he has had 56 appointments, this is a combination of doctor visits, surgeries/procedures, labs, and imaging. He has seen 9 different specialties, and continues to regularly follow up with 8 of them. He has recently been evaluated by Kentucky's Early Intervention System and has also started twice weekly feeding therapy. I'm thankful every day that we have medical insurance, but the bills are still very overwhelming.

The first months of Elliot's life, I feel like we were living in survival mode. I'm sure a lot of first time parents feel this way, I just think our feelings were compounded by way more what ifs. The answers we got early on were vague and didn't really explain what was going on with him. At no fault of their own, his doctors just weren't sure what was going on exactly. Without the knowledge of his diagnosis, most people would describe Elliot as an overall normal 17 month old. Nearly daily I mentally wrestle with the understanding of Elliot's diagnosis/prognosis and the fact that he appears to overall be very healthy. It's hard explaining to outsiders what is going on with Elliot.

At 7 months old, Elliot had an abdominal ultrasound that started the process for us to get answers. Due to Elliot's hemihypertropy, he is higher risk for tumors and requires frequent tumor surveillance. At that ultrasound in October we received some of the worst news a parent can get. They thought Elliot had a neuroblastoma, they thought he had cancer. They completed blood work and a CT scan after this ultrasound to confirm their suspicions, the oncologist and general surgeon were confident in their assessment that it was a neuroblastoma. In true Elliot fashion, he had everyone stumped. He went in for a right sided laparoscopic adrenalectomy the last week of November, and the suspected tumor and his right adrenal gland were removed. We opted for the removed tissue to go through genetic testing as his team felt it might give us more answers. After the tissue was taken for testing, we were told that despite their confidence in his diagnosis of neuroblastoma, he in fact did not have cancer and it wasn't even a tumor. He had something even more rare, a vascular malformation of his adrenal gland. It was an overgrowth of blood vessels, that if we had decided to biopsy instead of remove, may have very well killed him due to potential blood loss. I felt like we dodged a bullet and as low as I felt the month leading up to the surgery was as high as I felt hearing the news it wasn't cancer. The genetic results we received from the vascular malformation and the hand biopsy that was done during the same procedure finally gave us some answers. Elliot had a PIK3CA gene mutation, along with several other genetic mutations of lesser importance. He was officially diagnosed with PROS (PIK3CA related overgrowth spectrum.)

Why does this mutation matter you may ask? From the Understanding PROS (PIK3CA related overgrowth spectrum) website: The PIK3CA gene gives instructions to the cells in your body to make phosphatidylinositol-3-kinase. This PI3K protein is involved in the life cycle of the cell and making sure cells grow, develop, live, and die in the right way. When the PIK3CA gene is mutated, the instructions that the gene gives for making the PI3K protein are damaged. The PI3K protein does not work the way it should, causing cells to grow and divide abnormally, which results in the features of these PROS conditions. The mutation first occurs during embryo development, or the early stages of pregnancy. This means that it is not passed down from parents to children. The PIK3CA mutation is present at various levels in different cells and does not affect all cells in the body. As a result, PROS symptoms may occur only in certain parts of the body and affect those body parts in different amounts. Doctors may call this mosaicism.

PROS is a spectrum of conditions that are the result of this gene mutation and their clinical presentation is similar but can have some distinct differences. It wasn't another 6 months until Elliot's diagnosis was further specified. While it felt reassuring to have an answer, Elliot's future still seemed very scary to me. The website link provided to us from genetics about PROS sent us to a page that described PROS as a potentially life threatening, and disfiguring conditions. Again, my mind just felt it couldn't accept that my adorable boy may have this condition. Processing all this information in real time, while caring for an infant, and also trying to explain to friends/family what is going on takes a toll some days.

In May of this year, Elliot had a full body MRI to check for complications/malformations from his gene mutation. It confirmed some things we already knew (left sided overgrowth, limb length discrepancies, vascular malformations) but also helped to clarify Elliot's diagnosis. PROS encompasses about 14 different diagnoses with varying clinical symptoms. Elliot meets criteria for Megalencephaly Capillary Malformation Syndrome (MCAP.)

Megalencephaly-capillary malformation syndrome (MCAP) is a rare genetic disorder that causes the overgrowth of multiple tissues in the body, including the brain and skin. The main characteristics of MCAP include: 

• Large brain: Also known as megalencephaly, this is a primary feature of MCAP. 

• Capillary malformations: These abnormalities in the skin's small blood vessels are another primary feature of MCAP. The skin may appear marbled, which is called cutis marmorata. 

• Overgrowth of other body parts: Similar to fibroadipose hyperplasia (FH), MCAP can cause overgrowth of other parts of the body. 

• Brain function problems: The overgrowth of the brain can lead to issues with brain function, such as seizures, low muscle tone, and developmental delays. 

• Facial dysmorphisms: MCAP can cause typical facial dysmorphisms. 

• Asymmetry: MCAP can cause asymmetry of the body and brain. 

• Digital anomalies: MCAP can cause digital anomalies.

MCAP is extremely rare, with less than 300 people reportedly diagnosed worldwide. Due to the complications that arise from MCAP, the department of Social Security Disability added it to their compassionate allowance list in 2018, only 21 years after MCAP was first described in the medical field. At the mere age of 13.5 months, Elliot technically already met the criteria to be considered disabled. Finding this out felt all encompassing and overwhelming, and made me feel like there was a weight on my chest that threatened to keep out any air that I tried to breathe in.

As I researched and read more about MCAP, I started to realize that all the things Elliot's doctors had noticed that were different about him and all the different health issues he'd been diagnosed with were explained by MCAP. Unfortunately, there aren't longitudinal studies looking at the prognosis of MCAP over a person's lifespan and there aren't many adults diagnosed with it due to it being a relatively new diagnosis. MCAP gave us some answers, but only time will give us all the answers. We are in uncharted waters and are just trying to stay afloat.