Your newborn baby is suddenly swept away for scrutiny by doctors. The diagnosis arrives and it is of a rare disorder unknown to you and to many medics. It's daunting, but it means a management plan is in place and the future is safe. 

by Sarah Donnelly

Loeys-Dietz syndrome; a condition I had never heard of prior to the birth of our baby.

In October 2021 my husband and I went to hospital to have our baby. We weren't at our local hospital due to capacity issues, I had a normal pregnancy aside from vomiting all day which left me in bed for 4 months. I was classed as low risk and was asked to go to Southampton General hospital to be induced. It was our first baby and we were both excited and scared. All the scans had showed a healthy baby and growing as expected.

As my labour began I unexpectedly developed pre-eclampsia and my baby came quickly, I wasn't allowed any drugs other than gas and air (so much for my Epidural!). My baby arrived and my husband told me it was a girl, "It’s Jessica" I said. She was our little girl, the midwife put her on my chest wrapped in a towel. My husband and the midwife at this point had noticed our baby's legs were different. After the first precious moments of us meeting our baby I had an unexpected major postpartum hemorrhage losing 2,500 mls of blood and underwent removal of a retained placenta and blood transfusions. I was quickly wheeled out of the birthing room to theatre leaving my husband with our newborn in his arms.

When I woke up my baby was not beside me. She was in Neonatal as she was having issues feeding and I was too poorly to look after her. The birth had gone from low risk to high. My husband in gentle words said to me about Jessica's legs and I said that I didn't care she was beautiful. Her legs were in a position that looked like she was doing the splits and her knees looked like they were on back to front. They started doing tests on our baby straight away. The geneticist went through our family’s medical history and ran blood tests on myself and my husband. They referred to her on the paperwork as a "complex baby".

After a few days, Jessica was allowed to be in our room on the ward. We were bombarded with different teams day and night, checking on Jessica. We began to be fed information about her which almost always sent me into panic once the doctors had left our room. It was overwhelming and a huge shock. They mentioned dislocated knees, talipes on both feet, her heart being more in the middle of her chest than to the left, a bicuspid aortic valve, VSD, PDA and multiple small brain cysts (now known to be benign). It was a lot to take in, all the medical terms, investigations and monitoring. I felt a bit lost in it all.

It was a few long months before we had the results back from hospital, when we received the letter, it was vague. Confirming no condition in me and my husband was found, but a connective tissue disorder was found in our daughter. We were told to come to the genetics department at the hospital and they would speak to us in person about the particular condition. It was that day, after what felt like a lifetime of waiting, we would find out that our baby has Loeys-Dietz syndrome. She told us it was serious and would require lifelong monitoring. I had no context for what this condition was,I felt confused and struggled to process everything.

Around 4 months old me and my baby sat in a room with her cardiologist - only one person was allowed in due to Covid restrictions. This was when I found out the full extent about our baby's heart issues. The cardiologist drew me a diagram showing a dilated aorta, which was his main concern and other heart defects. He told me that she would need heart surgery and would need to began medication. I cried my eyes out once I left the hospital, it felt like the bad news would not stop coming.

Jessica is now 2 years old and it's still scary coping with the uncertainty of her condition. As parents we feel we have had to "parent" on hard mode and have become more resilient in the process. We now are unphased by the fact that most doctors or health professionals have not heard of Loeys-Dietz syndrome and we have become advocates for her needs.

Our brave little toddler underwent knee surgery and at 1 and a half years old she began walking, one knee still dislocates but she doesn't let this stop her. She is no stranger to being in casts and splints since birth. I am amazed at her bravery, she's so determined and strong.

I am so glad that by chance we had our baby at a larger hospital where she was able to receive the right support and monitoring straight away. I feel grateful we know the name for her condition as it gives us so much power to gain knowledge and support. I remember reading some stories about children being diagnosed with LDS and I remember it making me feel hopeful, so I hope this may make someone else hopeful too!

There is hope after diagnosis, Jessica lives a full life and is like any other 2-year-old. Jessica has some great consultants that monitor her and I am relieved they're keeping a close eye on her as daunting as all the appointments can be. We are also lucky our baby was diagnosed so early. No matter what is ahead of us we have so much love and support from our family and friends we know we will get through it. Our little girl brings us so much happiness and we love her unconditionally.

Marfan Trust, a CIO registered as a charity in England in Wales with charity number 1198847 at: c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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