Hi I am Darcy's mom, Beth and I would like to tell you our story. Darcy was born in January of 1994. We were aware that he could have Neurofibromatosis(NF) because it is genetic and his father's family have it. His grandfather is the first in his family to have NF. Of the 5 children he and his wife had, 4 have inherited it including Darcy's father. So it was not a great surprise when Darcy was born that he had inherited it as well. His brother who is older did not.
When he was born he was quite ill with an infection called Group B Strep and was hospitalized for 3 1/2 weeks. When he came home the Well Baby Nurse paid us a visit at home and advised us to take him to the doctor as he had a crooked lower left leg. I had not noticed but he had an extra fold in the skin of his left leg. His first Xray was at 2 months old and show anterolateral bowing of the left tibia. He went into a leg brace immediately and learned to walk with a brace on. He was followed by an Orthopedic Specialist in Saint John, NB Canada.
He had monthly Xrays and at 12 months it was noted that his fibula had suffered a fracture (in the splint). At 15 months, he went for the first time to Halifax, NS to see a Pediatric Orthopedic Specialist who dealt with NF and Congenital Tibial Pseudarthrosis (CPT). At that point it was felt that even though it was bowed they felt the tibia was not affected by the NF. He was taken out of the splint and did not wear one again until he was 6 years old. Perhaps if we had splinted him during that period of time he would have been fine but he was not and we have to deal with what we have now.
When he was 6, we noticed that his ankle was beginning to bend more and more and his foot was being pushed to the outside. His leg was also beginning to be shorter than the other. He went back into a splint and was splinted from then until he had his surgery in March, 2010. In 2006, when he was 12, he underwent an epiphyseodesis. This is where they operated and damaged the growth plate in his good leg below the knee to help make the legs the same length as each other. This operation had been planned for a few years and he had had many Xrays to establish when the optimum time to do it was. Did you know that they can Xray the hands and tell how mature your bones are? That operation went well and there were no complications.
When he was 13, we decided that the left ankle had twisted too far and we needed to make it straight again. At this point he was almost walking on his ankle bone on the inside. So he had a left Tibial Osteotomy which is where they took a wedge out of the tibia and brought the leg into line again. He recovered from the operation well and was casted for 8 weeks. 4 in a long leg cast and 4 in a short leg cast. Within a few weeks of coming out of the cast, before his splint was ready, his leg began to twist off to the side again. He was immediately restricted from walking on it until he got his splint.
A year later, in October 2008, he underwent his 2nd surgery on his left leg. This time they placed a temporary rod in his leg with a long leg cast for 7 weeks and then was in a short cast for 7 weeks after the rod was removed. He was not allowed to weight bear until he had his splint on. When we went back for followup in January 2009, at the time his cast was removed, his bone was about 1/2 way healed.
We went back for another followup in May of 2009 and found out then that Darcy's doctor had retired and we had to see another doctor whom we did not know at all. He had Xrays done and then the doctor came in and showed them to us. I am a nurse and when I looked at the Xrays I knew that there was a problem and that the leg had not healed. The doctor told us bluntly that in his opinion with this disease and 2 operations that we should amputate and get a good fitting prosthesis. We were devastated!! The 4 hour drive home was tear-filled and my husband and I talked so much about what to do. Darcy, when asked what he thought about amputation, stated "I just can't see throwing away a perfectly good foot!!"
When we arrived home and began to discuss things with my hubby's family and mine, we were still undecided as to what to do. My sister-in-law (who had an Optic-Glioma related to NF) encouraged us to get a second opinion. We found the Shriner's by posting on facebook looking for a second opinion. A several friends suggested going to them. In September 2009, Darcy and I flew to the Shriner's hospital in Montreal, QC, Canada and met for the first time with Dr Francois Fassier. He agreed that because Darcy had never had bone grafting or permanent rodding that it was indeed to early to amputate.
On March 28, 2010, Darcy and I flew to Montreal for his surgery on March 29th, 2010. In a 5 hour surgery, he had all the dead bone removed and bone grafting supplemented with BMP-7 (which actually stimulates the bone cells to grow and is of the Bisphosphonate group of drugs), a permanent telescoping rod (the Fassier-Duval rod)was inserted from the heel to the knee. The ankle joint had to be sacrificed because there was so little bone left at the ankle so it was fused and the rod was inserted through it. He then had an Ilizarov frame applied to his leg with compression on the fracture site. That was in place for 5 months to allow the anle to heal before we could proceed with the lengthening procedure using the Ilizarov that was already in place.
On August 26, 2010, Darcy had another surgery, this time another osteotomy and the lengthening was initiated 5 days later. At this point we have been turning the screws to lengthen his leg for the last month. We are at 2.4 cm and have another 2-3 cm to go. Once the lengthening is completed, he will have the frame on for 1-2 months for each cm that we stretch, that, in his case will be another 5-10 months afterward. He has had very little pain with the actual stretching but the skin, tendons and muscles are starting to feel very tight and uncomfortable. At the time of the surgery in March, he was fitted with toe slings which support the toes and prevent toe drop during the stretching.
We have found that his clothing needs to be accomodated and that snap pants are a Godsend. I have also taken zippers and placed them in the inseam of the affected leg with opening at the ankle. I made some fleece covers to cover the frame when he is out of our house (mainly to keep it clean and minimize the amount of exposure to contaminants).
Pincare is of utmost importance and needs to be done once per day. Darcy has a total of 13 different sites that need to be cleaned with a mixture of chlorhexidine and alcohol. Our doctor prefers that he shower before pin care to soften any crusting that may occur. We then take Q-tips dipped in the cleaning solution and clean the pins one at a time. We use 60-80 Qtips per day, since March we have purchased 11,000 one-ended wooden Qtips. We buy the unsterilized ones and have them sterilized at our local hospital.
Darcy has to do exercises twice a day, every day, to enable the muscles, tendons and skin to stretch with as little discomfort as possible. As he is 16 years old this is not easy for us to keep him motivated.... therefore we have had our share of disagreements and even tears on my part. Even though this has been the biggest thing I have ever had to tackle it is also going to be the best thing we have ever accomplished as well. We are hoping and praying that this is the answer for Darcy. Our faith in God has been a very real and sustaining presence in this experience.
Thanks for listening to my story and I will keep you updated as time goes on.
Written by B. O.R. 3.10.10