I remember sitting at my computer in early 2004, sensing that things were not right with my then 4-month-old. A tumultuous birth was followed by months of colic. I was sure I was doing everything wrong. There were formula changes and pediatrician changes. Then in February of 2004, she was hospitalized with a cellulitis infection on her face. Ultimately we were released from the hospital, but I knew I would never rest too easily again.
We searched and searched as illnesses lumped on top of each other and bled into surgeries of odd growths. We started early intervention for Speech, OT, and PT. There was gall bladder surgery for “milk of calcium,” tonsils and adenoids, and so on. This slid right into an arteriovenous malformation in her knee, and the list just kept growing. We saw so many doctors I could not keep up. It was a giant game of “whack a mole” and there was no end in sight.
I buried myself in the internet, trying to find anything to help me understand why my girl was just not healthy. The internet in 2004 had a fraction of what is available in 2023, but it was a start. I learned to find credible sources and to look up words as I read the vocabulary in complex medical journals.
Although nothing could have prepared me for the diagnosis that came late in 2011 after our PT and angel Dr. Jill sent us to genetics because, well, “something isn’t adding up.” Dr. Jill was right, and it took the geneticist about 45 minutes of skillful conversation, some sneaky analysis of her motor skills, and a tape measure to declare, “I believe I know what she has, and I think you have it too, Mom.”
6 weeks later a genetic test confirmed a mutation on her PTEN (tumor suppressor) gene, and 4 weeks after that mine was confirmed as well.
And suddenly, at 8 and 38 we were members of a very tiny community that seems to be experiencing exponential growth these days. The numbers we got were 1 in 200,000, and the inheritance was “autosomal dominant” although we can not see evidence of it on either side of my family besides me. There were a lot of answers to a surgically rich history of my own that came with the diagnosis.
A good deal of our journey is chronicled in this blog which began in May 2012, and things I have learned along the way are peppered through the posts. But, as my girl turns 20 this summer I have a chance to look at things as the mom of an adult child with a PTEN mutation.
I’ll share this (unsolicited) advice with you:
- You ARE an expert on your child and you ARE a valuable member of their team. Go ahead, read that again. The team should be filled with brilliant and well-researched doctors. Who you choose to be the CEO of that team is up to you, as long as the parent, or the child as they age, are a part of the team as well. It is my opinion that a doctor who lacks confidence in their own ability is the one threatened by well-intentioned questions from those on the front lines-the family. If a doctor is upset by your internet searches, do not promise to stand down, ask for guidance as to how to seek reputable sites and worthy information. Most of them have searched your condition soon after they met you, or right before your first appointment. I have even found practitioners searching Google in the ER before seeing us. I do not fault them for not knowing everything. No one can learn about every rare disease in medical school. However, if they make you feel foolish or less than for seeking answers – FIRE THEM. A solid medical professional knows your disease well enough to ask the right questions and is comfortable learning for you and alongside you. You are parenting a zebra, a beautiful, perfect, rainbow unicorn zebra. They should be treated as such. Do not let a doctor who is uncomfortable learning new things, or thinking outside the box intimidate you.
- Your child knows something is up. Trust me. No matter their age, their IQ, their ability to verbalize, or their personality, they KNOW. They may not know the details but they know you are worried. Think about how many hours you are spending trying to find answers/ juggle appointments/ balance a job/ fit in additional costs/ care for their siblings, etc. There is no shame in your struggle. You endure what would level most and you push through on all cylinders from the depth of the love a parent has for their child. Just never assume you’re hiding it all. You never want them to interpret your quest for their health as a result of something they did wrong.
- Control the narrative when you can. I had an endocrinologist soon after diagnosis plow right through my wishes and explain the cancer risks in depth to my 8-year-old. In hindsight, I should have at the very least fired him on the spot. I did not because I was at “the best” facility. I was intimidated. We do not use that facility anymore.
- Tell the truth. I know this seems to go against what I said above, but the trick is simple. Answer the questions they ask you, honestly. I mean everything from, “Yes, the needle for the bloodwork will probably hurt when it goes in. Then, when it comes out and we, (insert something fun here) you will feel better.” Use as few words as possible. Do not restate or belabor the point. When they’re done listening you will know. But, if you are honest and basic with your answers, they will trust you and come back for more when they are ready.
- Nobody has all the answers. Take good notes. Bring another set of ears when you can. Establish ways your specialists can be reached if there are follow-up questions. If your specialist does not listen or value you as a critical source of information, fire them. Respect them for what they know. Keep them if they are looking to learn more. If not, move on.
- THERAPY. Start early. Search for quality. Hold on until you find quality. Then step away. Let your child have a safe place to work through the physical, mental, and emotional ramifications of this mess. They say they are fine. They seem fine. They are probably struggling. That is not your fault, and you can not fix it all. Truly some kids are just mean and by being different your kid is a solid target. This internet/ social media world is ruthless. They need to be able to say things that are on their mind without worrying about what you will think/ say/ do. And, if you lack a healthy outlet, consider therapy for you too. They are watching. Your ability to handle their diagnosis, and yours if you also are positive, will be something they are observing even when you don’t think they are. Make your own mental health a priority as well.
- Make the boring and stressful things as much fun as you can. Quirky selfies, a favorite lunch spot, a special trinket, and some of the best conversations you will ever have may happen on those trips to the doctor. Instead of waiting for the “storm to pass” choose to “dance in the rain.” You are making memories, just not exactly where you had hoped.
- Do not underestimate your child. With the right balance of love, acceptance, medical screening, therapy, and time for child-like joy, they will be the absolutely amazing human they were meant to be.
That is not an all-inclusive list by any means. Feel free to drop a comment here or on our FB page about the things you have learned about parenting a child with a PTEN mutation.
I remember in my earliest days after diagnosis there were a few kind souls who pulled me forward. I hope this blog, and knowing you are not alone provides you some comfort.
#beatingcowdens
