A fight for a diagnosis of Blount’s Disease

The story of Sophie

My daughter Elsie has recently been diagnosed with Blount’s Disease after fighting for over a year for a diagnosis! Elsie started walking at the early age of 9 months. At 11 months I noticed both of Elsie’s legs were slightly bowed, I took Elsie to our local GP surgery and was told “Elsie’s legs are normal they will straighten in time”. We saw 5 different doctors by the time Elsie was 18 months old and was even turned away in A&E after seeing a doctor who did not even ask to get her out of her Pushchair, he just said go back to your GP. We then saw another 4 doctors over the next few months and they all said the same thing “it’s normal”.

By 22 months old Elsie’s legs had deteriorated greatly and she was complaining of pain every day and crying throughout the night. I finally found a doctor who agreed that Elsie’s legs certainly were not “normal” and agreed that she needed to be seen by an Orthopaedic. Elsie was sent for blood tests to find she had a slight Vitamin D insufficiency and was given a supplement. My daughters doctor referred her to Great Ormond street hospital whom after 2 months of chasing up the refferal and getting it sent 3 times rejected the referral! I was heartbroken! I could not understand why Great Ormond street would turn my daughter away. I received a letter from Great Ormond street explaining why they rejected the referral “I accept that your daughter has more bow-leggedness than you would like, she is falling and complaining of pain. Nevertheless I also note that she was vitamin D insufficient and has been treated but you have not let me know if this has “cured” her insufficiency.” They go on to say “I would simply watch and wait a little longer to ensure that as she grows the bowleggedness does improve as it does in 90%-95% of cases.

My doctor sent Elsie for an X-Ray, which was apparently normal! After paying £15 to my doctors surgery for Elsie’s medical records I could see this was not the case.

On October 2nd 2015 Elsie was just 2 weeks away from her second birthday. I took my her to Kings College hospital, they were amazing! Within the space of an hour my daughter had seen a nurse, doctor, paediatrician and had bloods taken. They also looked at the X-ray that my doctor had said was fine and pointed out that her leg bones are flared, the bones in her knees are squashed and that the bones are bowed. An orthopaedic surgeon looked at the X-ray and said it looks like Blount’s disease. I had already researched Blount’s disease and to me it looked like the most obvious diagnosis. Kings sent a letter back to my doctor to Refer Elsie to an orthopaedic.

I did some more research on Blount’s Disease when I got home and was horrified to find out that Elsie’s legs may need to be broken and pinned back together as this seems like the only treatment. Also Elsie will suffer with Arthritis for the rest of her life because of the deformity to her legs.

Elsie has been seen at the Evelina Children’s hospital by an orthopaedic. As soon as I took Elsie out of the pushchair the orthopaedic found a smartie on Elsie’s seat and picked it up turntable to his two colleagues (I don’t know who they were because he never introduced us) and said this is evidence. In the 10 minutes of being seen I listened to this orthopaedic say that Elsie’s problem was mechanical he did not go into much detail but kept saying she is clearly over weight, stop feeding it, she needs to go on a diet, stop giving her food, as soon as she looses weight her legs will straighten and I won’t help her till she looses weight. I was so upset I cried and practically begged for a leg brace. He agreed to it in the end.

A few weeks later I took Elsie to A&E because her pain. She was referred to the fracture and bone clinic. We luckily saw an orthopaedic who had worked in Africa with children who had Blount’s Disease! He said this is definitely what Elsie has and to get the leg brace and if it doesn’t work she will need surgery.

Elsie now has the leg brace but cries every day in pain as it is forcing her leg to straighten. If the Blount’s Disease was diagnosed and treated sooner then Elsie wouldn’t be in so much pain now. It shouldn’t take 9 doctors, 3 A&E visits and 3 orthopaedic consultants to get a diagnosis! We are praying that the leg brace works and that one day Elsie will be pain free. Elsie loves to dance! I would love to see her be able to dance and be happy without being in pain and constantly falling over.