Seasons of change: receiving a difficult diagnosis

by Elizabeth Walby

When I left church that morning I felt strengthened. It was a deep strengthening, the kind that is difficult to explain. I felt it in my spirit, even though at the time I didn’t know why I needed it.

21 months earlier my third daughter Lily was born in the heart of covid. It was an interesting time for children to be born and develop. There were no visits from family and friends, and post natal visits were often virtual. So from the very beginning Lily’s development was different. And it was difficult to say what was causing the difference.

But at six months of age my “mama radar” was in full alarm. I was concerned something was wrong. Each time we visited the park and I had to stuff a blanket in the sides of the swing to support Lily or she would tip over. I felt something was different, but it was such a different time that I doubted my intuition.

Professionals were not overly concerned and I felt disloyal to my daughter trying to convince them that something was wrong. But as time went on our concern grew.

Lily started different therapies in attempts to see if she could catch up. Trying everything, not seeing results. Not having answers and not knowing whether I should be concerned or not. Talking to others, but still not feeling reassurance that everything was ok. Getting plenty of opinions, suggestions and advice but no real solutions.

At about 14 months of age we got a diagnosis- hypotonia and gross motor delay. Finally someone was recognizing what we were observing as parents. But the diagnosis was generic and still didn’t explain what was causing the delay.

So the appointments continued and our concerns and uncertainty grew.

That was how I was feeling the morning I walked into church. Alone and uncertain. I saw my friend Gail in the hallway. She asked, “how things were going with Lily?” I shared about all the appointments we had attended that week. About how 4-6 appointments a week really had become the norm for us. I told her, “I feel so alone in all of it.

I felt some guilt for complaining. Why did I have to keep focusing on it and make such a big deal out of it. Maybe the therapist was right and sometimes the third child is slower because the older kids cater to them. But something inside knew that was not the whole story.

I realized the service was already starting. So I found a seat in the back of the sanctuary where my husband was seated.

God Preparing My Heart for the Diagnosis

That morning Pastor Tim was sharing from Hebrews 4:14-16. He talked about how we never have to face things alone. That God’s presence, the word of God and His body are ways God is always with us.

“Therefore, since we have a great high priest who has ascended into heaven,[a] Jesus the Son of God, let us hold firmly to the faith we profess. 15 For we do not have a high priest who is unable to empathize with our weaknesses, but we have one who has been tempted in every way, just as we are—yet he did not sin. 16 Let us then approach God’s throne of grace with confidence, so that we may receive mercy and find grace to help us in our time of need.”—Hebrews 4:14-16, New International Version

The words I had shared just a few minutes earlier with my friend Gail were still circling in my mind. I feel so alone.

Although I had felt a tinge of guilt just a few minutes earlier I didn’t feel that as the pastor was talking. Instead I felt comforted, I am never alone. God walks with me and I can share everything with Him. Each appointment, each uniformed glance as we navigate situations differently than the norm, each day, He will walk with me.

After the service I was surprised when another friend approached me and asked specifically, “how is Lily doing?” We talked and as we talked, we walked.

Lily is a girl on the move. Often times my husband and I will tag team at church walking with her. It is difficult for either of us to have a full conversation with anyone unless they are willing to walk with us around the church building.

And that day my friend Stephanie walked with me and Lily. Then Gail walked with Lily and I and we continued to talk. I don’t think my friends understood what they were doing, but by walking with us that day they were strengthening my faith. They were reminding me and Lily, that we are not alone.

So that day leaving church I felt a deep sense of what Pastor Tim was talking about. I felt that I was not alone. I felt strengthened by God’s presence, his word and his body. And now looking back I know that it was in God’s perfect timing.

The Diagnosis

The next morning while getting my children ready for school I got a familiar ding on my phone notifying me of a message from our clinic. I didn’t give it much attention, but figured I would check it after school drop off. Lily was also going to a friend’s house that morning so when I sat down to check the message I was alone in my kitchen.

We had opted to do genetic testing for Lily after several consults with different specialities and clinics. We were not interested in Lily having an MRI because it would require going under general anesthesia. In fact my husband was quite adamant we avoid it. This was not the first time his intuition had helped us make beneficial medical decisions and I am sure it will not be the last (now knowing Lily’s diagnosis many children have adverse reactions to anesthesia).

So we opted for genetic testing which was less invasive. But I told myself they won’t find anything, mostly to manage my expectations.

Well on that Monday morning at 9 am we received the diagnosis: Phelan- McDermid Syndrome (PMS). It’s difficult to explain the feelings and emotions that come with your child receiving a diagnosis. It’s especially odd when you have never heard of the diagnosis.

As I read through the symptoms there was a sense of relief. Yes. Yes. Yes. It checked all the marks of what I was observing with Lily unlike the other diagnoses that had been suggested. The symptoms were spot on, and in a way it almost felt as if I was being re-acquainted with a long lost relative. Except I didn’t like this relative.

Facing the Road Ahead

My husband came home. We cried and embraced. Unsure of what this would mean for our child, unsure of what lay ahead.

The days that followed were filled with research, tears, conversations, appointments and embraces. We were on a new journey we had never expected and could never imagine.

But as I thought about the day before I knew we were not alone. I knew that God, His word and His body were with us. God was so kind to remind me of His presence the day before. To strengthen me in a way I didn’t know I needed.

Continued Reminders of God’s Grace

In the days following the diagnosis God sent other reminders that we were not alone. My friend Andrea called me and asked specifically about how Lily was doing. She told me God had prompted her to call me. And the following day right after meeting with the geneticist to go over the diagnosis we saw our friend Martha, and through tears and a quick hug, she was another sweet reminder of God’s presence with us. 

Shortly after receiving the diagnosis we also discovered there was an organization of about 3,000 families who had received a Phelan-McDermid Diagnosis. The doctor who had discovered Phelan McDermid Syndrome with colleagues, Dr. Katy Phelan, had advocated and worked to bring families with the diagnosis together. And through social media we were able to meet with families across the world that shared a PMS diagnosis. It was another way that we knew we didn’t walk alone. 

We had an opportunity to meet with Dr. Phelan on a recent trip to Florida. And we were able to ask her any questions we had. She was so warm and happy to meet with us. It was a special blessing to us!

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Elizabeth is wife to Damon, and mom to three lovely daughters- Annabelle, Emmie and Lilia. Damon and Elizabeth moved to Rochester from Minneapolis in 2018. At that time Elizabeth started craft blogging at A Well Purposed Woman as a stay at home mom. She believes creativity is a God- given gift that can glorify Christ, bring joy into  everyday life and BLESS others!