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To the Doctor Who Searched Endlessly for My Son's Diagnosis

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Alison with her son, Gabriel.
Alison with her son, Gabriel.

Dear Doctor,

I have been meaning to write this letter for a while now. It is four years late, but I have only just felt ready to say these words to you. I have only just realized that they needed to be said.

Thank you.

I have a lot to say thank you for and also a lot to apologize for.

We first met when Gabriel was 5 months old. It was a neonatal follow up after his 27-day stay in the unit following his birth. At first, he couldn’t regulate his rapid breathing and then his heart dotted with holes was discovered. You weren’t there during that stay, so this follow up appointment was our first encounter.

I left that initial appointment feeling positive — you had swiftly arranged physiotherapy for his poor head control, referred us to a development center and said you would review again in three months. Already, we were mentally scarred from our hospital experiences and knew a rocky road was ahead. You were a breath of fresh air at first, but that was short lived. No one has come close to breaking my heart over and over the way that you did. I say break but I mean smashedagain and again.

As Gabriel got sicker and sicker (from undiagnosed celiac disease and a milk protein allergy), you became more and more concerned. The testing began. The first was for muscular dystrophy, then Prader-Willi syndrome. Before we had chance to count our lucky stars, you would shake your head and say not yet. Next was a sweat test for cystic fibrosis (CF), a MRI brain scan, a basic genetic screen followed by an in-depth array. The time between each appointment would be spent seeing new specialists, waiting on results and saying silent prayers of thanks each time one came back negative.

Each new appointment your face remained sombre. Your list was long and the diseases were getting worse. You never gave us chance to pause and reflect. Our baby was ill, getting worse each day and you felt compelled to get to the bottom of it. You pushed and pushed us down a horrific road, when all we wanted to do was dig a hole in the garden with our children and bolt a trap door shut across.

Metabolic testing ensued. Negative, negative, negative. I loved that word. At last I felt it was time to let out a deep breath, but no. You had saved the best for last — a condition called leukodystrophy (where the brain dies slowly) had been on your mind for a while, but for that to be ruled out we’d have to wait until he was 2 years old for a second MRI brain scan. That was months away. That period of my life was the worse I had ever known. I came to terms with a lot in those months.

How we blamed you for our pain. If it wasn’t for you, we wouldn’t be in this hell of testing. We even met the mother of another of your patients who said she hated what you were doing too. The irony that we met in the parent’s room of the pediatric intensive care unit is not lost on me. We were two scared mothers with very ill babies who didn’t like what our doctor was telling us.

Thankfully, Gabriel’s MRI scan was clear and I started to embrace, accept and understand this child of mine more. As long as he didn’t leave us, we’d face this new life with a brave smile.

Every appointment, I wanted to prove you wrong. I wanted Gabriel to show you he was not this boy you suspected. I longed for him to get better, to hit a new milestone so I could say “see I told you so.” The thing is, you knew this. You were always so very kind. You offered to sort out some respite for us. When I came with my lists of questions, you took them away and tried to answer them in his clinic letters. When I called, you came to the phone. When I pestered for results, you chased on my behalf. You called the same day you knew the outcome of any test. You banged on many doors for him to be reviewed by others and asked advice from all your colleagues.

You even referred him to a professor from outside your hospital trust. One you had heard speak weeks earlier about rare food allergies and wondered if he might have some different answers. He did, and we finally got the celiac/milk protein diagnosis. A dairy and gluten free diet turned things around and he started getting stronger day by day.

You kept Gabriel in your clinic until he was nearly 3 years old, a long time for a neonatal doctor, as you wanted him to have a good doctor overseeing his care. We get this with the professor, and his team have since uncovered new treatable things about Gabriel (like growth hormone deficiency). They were able to go down this route only because your devotion, your speed, your diligence left them at a different starting point with so much ruled out.

I knew you did all this and didn’t appreciate it at all. Not then. I do now.

I see friends with older children begging for tests, praying for one doctor to start thinking outside the box, and with many a cruel diagnosis still hanging over their heads.

I want to say thank you for all you did, for never giving up and getting us to the place we are today.

A place of acceptance and hope.

Once again, thank you.

Gabriel’s mum

Follow this journey on Complicated Gorgeousness.

The Mighty is asking the following: Tell us about a time someone in your community went above and beyond (or did the exact opposite) for you or your loved one with special needs. Check out our Submit a Story page for more about our submission guidelines.

Originally published: May 13, 2016
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