It's been a while since I posted about Breanna and for those who have been following me may recall that she has had several abnormal lab results. We had gone to see an endocrinologist that our family practice physician referred us to, with no success, so I called her previous endocrinologist at OHSU to determine if she could been seen, even though we now live 3+ hours away. Thankfully we were able too re-establish with her. Breanna had her appointment on January 18th at 10am. For those of you who live in the PNW may recall this was when the NW was hit with a nice winter storm and not only did I drive through that mess on Tuesday but we also ended up staying in Portland until Monday afternoon due to our house being without power until then. Anyway, enough about the weather, back to Bre...
On the 18th we reconnected with Breanna's endocrinologist Dr. Hanna at Doernbecher Children's Hospital who delighted to see how much Breanna had grown in four years and how much she had weighed. The last time we had been there Breanna's height and weight were not even on the charts and if I recall right she was about 11 years old weighing between 30-40 pounds. During our appointment, Dr Hanna explained how she had attempted to research some of the other GPS patients to see if they had similar lab results as Bre. She came across a female patient who is between the ages of 17 and 20 and lives in Finland who was diagnosed in 2007 who had in fact did have similar results. We discussed several options and concerns with Breanna's results and growth and without going into excessive detail determined the following plan: repeat lab work and add additional tests to check her pituitary gland to ensure it functioning properly, without having to Bre through another MRI to avoid sedating her; Dr Hanna will attempt to contact this other patients physician(s) to determine if the published lab results were her normal results and discuss the similarities of Bre and her to help determine current and possible future concerns and treatments; she would also contact Bre's physicians who 'published' her to obtain past lab results and inform them of the similarities of the two girls; and due to Breanna's eczema we needed to do skin tests, with bandaids, to determine if she would be able to use a patch for hormone replacement therapy.
Why would Bre, a 17-year old need HRT? (I know you are asking that...well maybe.) Okay here goes a brief and hopefully non-confusing medical history of Bre. She was born with multiple medical problems and had a specialist in about every field it seemed: orthopedic, brace specialist (he made her leg braces and worked with NIKE to custom make her shoes), geneticist, endocrinologist, urologist, cardiologist, ophthalmologist, neurologist, dermatologist, develop-mentalist (don't recall what he did, but he's on my long list of MD's, plus she had a nutritionist, speech therapists, and a occupational therapists. Boy, that was tiring! Needless to say I spent my 2 days off a week at a doctors office. When she was about 9-months old she developed large abdominal hernias, which were removed. After this surgery I was notified that she did not have a uterus and that there were development problems with her ovaries and those needed to be removed. So now the last 16 years (short version), she has club feet and spinal curvature, but not yet in a wheelchair, she falls occasionally and I know this is wrong, but she learned to 'cry' two years ago, so although she doesn't feel pain, she will cry when she falls...sad, but it's so cute! Due to her growth delays, abnormal bone growth (her bones are growing at different rates, her last bone scan 3 years ago (age 14) showed her bones ranged in age from 5 to age 10), not feeling any pain, and her occasional falls, it was recommended to start her on HRT to help increase her bone strength and prevent osteoporosis.
Fast forward two plus weeks. Dr Hanna calls to give me an update and Breanna's lab results. Most of her abnormal lab results, while still abnormal, are moving towards the normal ranges. Her pituitary gland is functioning normally so no MRI is needed at this time. She was able to speak with the Finland patients physician in detail about the two girls and the other patient has similar concerning labs with no explanation of what caused the abnormal labs, but that her lab work eventually returned to normal ranges over time. Breanna did well with the bandaid test, so she will sent a prescription to start her on a low dose of HRT, with the plan to increase her dose over time. SHHHH don't tell, but we haven't start this yet, I am having a hard time, although I understand why she wants to start HRT I don't feel comfortable starting her on this, especially after learning the plan to gradually increase the dose.
The last of our discussion was making plans for Breanna's future care. Dr. Hanna will be gradually reducing her patient load of the next year and a half or so as she prepares for retirement and Bre's geneticist has officially retired, yet still sees patients on occasion. She offered to assist on finding Bre another or a few endocrinologists and work with the geneticist team at OHSU to find a new geneticist within the Seattle area. By starting this process now, we would be able to continue treatment at OHSU and establish with new doctors. They would attempt to work together on treatment for the next year or so in order to familiarize the new doctors on Breanna's case, without her having to be scheduled with someone who doesn't truly care or understand, like we experienced with the last endocrinologist in the Seattle area.