Avery has Osteogenesis Imperfecta

The last few days have been a complete blur.

I am in a group on Facebook called “OI Parents” and it is composed of people who have OI, have children that have OI, etc… This group has been a life line of support for our family during the last few weeks.  I’ve made several connections with people on the group and was given amazing advice by several of the people who have actually been through the abuse charges! 

Last week after my post and my absolute desperation to try and save Avery, I posted in the OI group about how sad and heavy my heart was knowing that if the blood work came back negative there was a good chance that Avery would be removed from my house.  I just couldn’t imagine my sweet Avery Starr getting ripped out of our home and forced to live with someone else because of abuse that never happened.  In any case, I posted and a fellow OI parent (and Dr!) messaged me asking for information regarding Avery’s health history and her x-rays.  I quickly typed up everything I could think of, flipping through probably over a hundred pages of medical notes and paperwork, and sent it on its merry way. 

Dr Neel reached out to Dr Rush, a highly respected geneticist who works with a lot (A LOT) of OI cases, and gave him the information that I had passed on to him.  The two Dr’s discussed Avery and the case that we had and Dr Rush agreed to see Avery. 

You can’t even begin to imagine my overwhelming joy when I realized that we were going to be able to SEE an OI geneticist.  I called the clinic and asked for an appointment and was told that the soonest they could see me was January.  I, again, felt completely defeated. 

I swear, Avery has some absolute angels working miracles for her.  Dr Neel worked his magic and spoke with Dr Rush and told him about the urgency of our situation – that Avery’s case was one that needed to be seen immediately – and he AGREED!  I called and spoke directly with Dr. Rush and he said that he would be willing to see her the next day, in Omaha, at 12:30pm.  He wanted to do a DEXA scan, another skeletal survey, examine her and review her medical history. I literally cried.  It was the first time in a month that I cried tears of joy.

We packed faster than we’ve ever packed in our lives.  Kassi and I had to turn around because we actually forgot the charger for her feeding pump! Haha.

The car ride to Omaha was absolutely awful.  Avery had been not feeling well for the day or so prior to leaving for Omaha (Thursday).  She had been crying a lot since Tuesday evening and just really seemed to be miserable.  The car ride down she was screaming – non stop – and actually soaked her car seat in sweat in a way I had never seen before.  She was holding her left leg completely stiff and holding it with her left hand.  I had never seen Avery look so miserable and cry so loudly – I thought we’d never make it to Omaha.

But we got there, finally.

Omaha was the most amazing experience of my life.  The hospital and Rainbow House and people and just everything – absolutely EVERYTHING about Omaha was incredible.

 

Avery had a DEXA scan at 1130am.  A DEXA is a scan that works like x-ray but has lower radiation, and actually tests to see the bone density.  It helps to identify if the bones are weaker than they should be.  Avery’s DEXA revealed that her spine is substantially lower than it should be.  Dr. Rush actually said that it is low “even by OI kid standards”.  Her hip was also scanned and that appeared to be within “normal” range.  Avery had another set of x-rays.  During this process everyone was trying to find out what was in her pelvis.  Apparently when the g-tube was put in the surgeon put in a t-clip (I think!) to help secure it.  This was something that we were unaware of and I kept getting asked what was in her!  I was freaking out, thinking that the surgeon had unintentionally left something in her.  Thankfully, Dr. Rush identified it. 

Dr. Rush did a very thorough examination of Avery.  He tested her mobility, examined her physically, reviewed her history and the history of our families.  He noted that Avery’s low bone density in her spine, her blue sclera, her hypermobility, low muscle tone, short stature, failure to thrive, excessive sweating…and the list goes on and on…all contribute to her official diagnosis of Osteogenesis Imperfecta.

That’s right.  OFFICIAL.  Avery was clinically diagnosed with Osteogenesis Imperfecta – type 1.  As she grows and becomes more mobile, she may break more frequently, but for right now we are hoping that she will be a mild form of type 1. 

 

On our way out of the clinic I was handed a binder.  On the side of the binder it says “Osteogenesis Imperfecta Paren’ts Binder” and I clinic discharge sheet that says "Osteogenesis Imperfecta" as the main issue – I absolutely cried when I was handed that paper. 

 

That evening my sister and I had the pleasure of meeting another OI family that lived in the area.  Jessica and her family met up with us at the mall.  We were able to talk about OI, the diagnosis, the fracturing and all of the other tiny tidbits that come into play with OI.  She was an absolute angel and her entire family was incredible!  That night when Jessica stopped by she got to see Avery in full force.  She was crying and miserable.  I had told her about Avery’s leg earlier that day – and she saw exactly what I was concerned about.  She agreed that Avery seemed to be in pain and that splinting it was probably the best option.  She called another amazing OI mom (and Dr!) who gave her instructions on the best way to splint Avery.  Thank God I had already compiled a break box in the weeks prior to this, so we actually had decent(ish) material to splint with.  Jessica, Kassi and I splinted Avery’s leg and she slept better that night than she had slept in the two nights prior.  She still woke up crying occasionally – but she slept. 

We planned on leaving the next morning but I awoke to a phone call from Jessica saying that I needed to get up because Dr E was going to call.  Dr E is an orthopedic surgeon, and the ortho of choice for families with children that have OI.  He is incredibly knowledgeable and (because of Jessica!) was willing to meet us in the ER to examine Avery before we left to go back to ND.  Jessica told Dr E what she had witnessed in our room and was concerned about Avery being able to get the appropriate treatment and care in the city we live in.  Dr E agreed to meet us and we rushed to make it there on time.  Avery was not a happy camper when we were with Dr E.  He did get to see how she seemed to be reacting negatively to pain in her leg and movement seemed to bother her.  He agreed that it appeared to be fractured (despite a negative x-ray for fracture) and said that splinting it was the best option.  He created a splint for Avery and said that we should follow up with another x-ray.  He explained that OI kids don’t always show fractures immediately.  He said that even if the secondary x-ray shows no fracture it still doesn’t mean there wasn’t a fracture.  There are micro-fractures.  There are stress fractures.  There are all kinds of things.  He also prescribed Avery with pain medication to help her through the painful moments. 

The splint that he created for Avery was absolutely incredible.  She slept like an angel that night and has been sleeping beautiful since then.  The pain medication is given as needed, and when she needs it, it’s beautiful.  She actually has been sweating less (or so it seems) since her leg was splinted.  She is a much happier baby, as well.

 A few other great changes have happened – too!  Avery has started taking baby food by mouth with no issues.  She is willing to “drink” it off of the spoon or eat it.  She is also willing to drink from a cup.  She drank water, ice water, and even her Elecare formula straight from a cup.  If it’s in a sippy – she won’t have it.  If it’s a bottle – not a chance.

 

Avery is improving by leaps and bounds with the tube and now the splint.  It’s amazing how wonderful these small changes have made in her life.  And it’s crazy to say “Avery has Osteogenesis Imperfecta”.

 

I also had the pleasure of meeting Amy while I was in Omaha.  She has a son, Grayson, who has OI.  He just had rods put in his legs.  Poor boy!  He was absolutely adorable and just so sweet. 

On our way back to North Dakota, we got trapped in South Dakota by some bad weather.  I had the amazing privilege to meet up with one of the mom’s from my July 2012 group who lives in the town we were stranded in.  She invited us to her house and allowed my girls to play with her daughter, Jessa, who is the same age as Kailee.  She also has a son, Oliver, who is the age that Avery should be.  It was crazy to see what size Avery “should” be.  Oliver was substantially taller than Avery! 

 

The last few days have been amazing.  Knowing that Avery has OI is going to change our lives, but for right now the primary focus is on getting the investigation over with and being able to take control of Avery’s health care again.   

 

I just really want to reach out and say a very special thank you to some of the amazing people who have offered their support during the last few days.  Autumn, Neel, Jessica, Sarah, Mary, Amy, Dr Rush, Dr E, the entire OI parents group and all of my July mom’s.  Thank you all so much for being there when we needed support, encouragement, help and a place to turn.