Sunday, February 23, 2014

Our Stories Matter: World Rare Disease Day is Friday!

I was thrilled to share Regina and Luke’s Story in November during Diabetes Awareness Month, because our stories matter. As I wrote in the introduction to that post….

Our stories as mothers matter. It’s in knowing each other’s stories that we are moved to grace, empathy, and compassion in moments when we might otherwise be tempted to judge. When we share stories together, we open our hearts and we break down walls so that we can support one in another in this crazy thing called motherhood. Because as I’ve said before, mothering is hard, but it’s a whole lot harder if we think we’re doing this hard thing alone.

I look forward to highlighting stories from moms on a semi-regular basis. We all have a story. Maybe yours doesn’t have a diagnosis to go with it, maybe it does. But they all matter.

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February 28th is World Rare Disease Day, and I am thrilled to have a good friend sharing her and her daughter’s story. I’ve known this mother since we were both pregnant with our first children who happened to be due the same month. We met on a mommy message board, but our friendship has reached far beyond a computer screen. She is a dedicated mother who loves fiercely, researches extensively, and now advocates proudly. This is her story.

I encourage you to check out details about World Rare Disease Day and join the Wear That You Care Campaign by wearing your favorite jeans on Friday.

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As I write, I am watching Women's Figure Skating on the Olympics. Did you know that 1992 Olympic Gold Medalist, Kristi Yamaguchi, was born with clubbed feet? I didn't. Until 8 years ago, when my husband and I had our “routine” ultrasound for our first child, and we learned that she would be born with bilateral clubbed feet. After that ultrasound, we, along with our family, read as much as we could on the subject, including lists of famous people who had been born with the condition. Kristi (can I call her Kristi?) actually started ice skating as a form of physical therapy. And years later, those once-malformed feet carried her right to the top of the Olympic podium.

Over the next several months, we developed a plan. We met with the Chief of Orthopedic Surgery at our local Children's Hospital, and determined that he would be the doctor to care for her feet, using the method named after Dr. Ignacio Ponseti, a non-surgical method involving weekly casting, followed by use of corrective shoes connected to a brace. We would start her treatment about a week after her birth.

Childbirth went well. Aside from her feet, she was healthy, and she was beautiful. By the next day, however, the situation had changed. That afternoon, they came to us and informed us that they were having trouble keeping her temperature up, so they were going to put her in the warmer. By that night, they had taken her blood glucose levels, and she was at a 2. Anything less than 40 is considered hypoglycemic, and our sweet girl was a 2. They said they wanted to send her, by ambulance, to one of the two NICUs in the city. As it turned out, only one had room, so she was send to the NICU at the Women's Hospital. I was able to be discharged 36 hours after her birth, because the same doctor who had seen me that morning was still on-call, and could see that I was improving well enough to go with her. (I'm sure the fact that I would be at the Women's Hospital might have had something to do with this...)

Once in the NICU, she slowly started to make improvements with IV dextrose and the incubator, but she seemed to be hanging out just below the threshold that they prefer to reach for release. Five days later, on December 26th (yes, we spent Christmas in the NICU), we were finally able to take her home, but not before stopping at the Children's Hospital to get her first set of casts.

The next year passed mostly uneventfully. She had surgery at 6 weeks old to lengthen her Achilles tendons – the biggest step in correcting her feet. After that, it was 6 straight weeks of the same set of casts, then she was in her shoes/brace. And she had issues over Thanksgiving that eventually led to a diagnosis of infantile asthma, which was cold-induced. Any time she got a slight cold for the next 6-8 months or so, it developed into a full-blown asthma attack. She was hospitalized that May (just shy of 18 months old) when we couldn't get it under control at home, and we were sent home with a nebulizer. Finally, she started to turn it around, but she still had random “symptoms” that were enigmatic. She had no teeth until 15 months; her hair was very dry, brittle, and sparse; her toenails were pretty much non-existent; she was hypotonic (low muscle tone, unrelated – according to her orthopedist – to her being in casts and braces for her first 18 months...as a result, she didn't walk until she was about 2 ½); and she was falling off her growth curve. We saw a geneticist, a neurologist, an endocrinologist, and even a cardiologist, trying to figure out where the problems originated, but the results of her tests were inconclusive. We started early intervention to help with her hypotonia and gross motor skills, and she started to make improvements, but she was still far behind her peers.

For two years, we ran labs every 6 months or so for the geneticist, and each time, it was an ordeal. Many of her blood draws were lengthy and traumatic. She was a chubby baby, so her veins were very deep. We needed the IV team at the Children's Hospital every time, and they searched every vein possible – including in her head, and her feet (which she absolutely hated, because of everything she had been through with her feet). On more than one occasion, we had to leave without having completed the draw and return on another day to try again.

During that time, I became unsatisfied with her pediatrician, so I switched her to a group that was linked to the Children's Hospital. We loved these new doctors; they were so proactive! On her doctor's recommendation, we started seeing a nutritionist, because her weight was continuing to increase, while her height was now below 0% on the growth chart. Then, one day, I got a phone call from a friend who asked for prayers, as she was going in for labs the next day, due to some symptoms she was having, which she thought might indicate hypothyroidism. As she listed her symptoms for me, the wheels started turning in my head, and I got that feeling in the pit of my stomach that mothers get when they just know. I googled “hypothyroidism in toddlers”, and our daughter had probably 7-8 of the 10 or so symptoms that were listed. That night, I told my husband that we needed to have our daughter checked again for hypothyroidism. (The last time she'd been checked, she was 14 months...her T4 was low, but her TSH was high, showing that, while her thyroid was slightly underperforming, her pituitary was pushing the thyroid-stimulating hormone to keep everything functioning.) We had already agreed not to do any more testing, but my gut just told me that we needed to do this one more test. If it showed up as nothing, great. But if we didn't do it, and found out later that we could have done something to help her, I would never forgive myself.

So, I made the appointment to see the endocrinologist again. As it turned out, they had wanted to see us for a follow-up a year after her first appointment, but because we were going through the transition with the pediatricians at that point, we never “got that memo”. We got the labs done, and this time, her T4 was low, but her TSH was also low, indicating the primary problem was not with the thyroid, but with the pituitary gland. At this point, everything started to move very quickly. I can't give an exact timeline, because everything from that time kind of runs together in my memory. There were several more tests done, including multiple MRIs, x-rays to determine bone age, and a growth-hormone stimulation test – a blood test, which took about 3 hours.

The final result is that she was diagnosed at age 3 ½ with panhypopituitarism.

PAN = all

HYPO = deficient

PITUITARISM = dealing with the pituitary gland

Through an MRI, we learned that she has an ectopic (out-of-place) posterior pituitary gland, which is crowding her anterior gland. As a result, her anterior gland is shriveled, and not producing any of its hormones, including growth hormone; TSH, which helps regulate the thyroid; ACTH, which tells the adrenals to produce cortisol in times of physical stress; and, we assume, prolactin, LH, and FSH, which are considered “reproductive hormones” (she has not been tested for these hormones yet). Fortunately, there are replacement hormones for everything but prolactin. Just a few pills a day, and a shot of growth hormone at night, and her body functions (nearly) as well as yours or mine.

The most serious issue of her PHP is her secondary adrenal insufficiency. As I mentioned, our adrenal glands are responsible for producing extra cortisol in times of stress – severe vomiting; surgery; or emergencies, like seizures, loss of consciousness, or broken bones. They get that message from the pituitary gland. But our daughter's pituitary isn't sending that message, so her body can't fight these things on its own. In those cases, it is imperative that she receives a stress dose of oral hydrocortisone (she takes what's considered a “maintenance dose” daily), and in extreme emergencies, she needs either an intramuscular injection or an IV of corticosteroids. Without these measures, she could go into adrenal crisis, and could die.

A sobering thought.

When I think about the 3+ years she went undiagnosed, and all the traumas that occurred during that time - surgery at 6 weeks, several bouts with stomach viruses, MRIs requiring sedation, the hypoglycemia at birth - we could have lost her several times over. I am so thankful that God was watching out for her over those years, and that my friend – who, incidentally, does not have hypothyroidism – called me that day, and planted the seed that ultimately grew into her diagnosis.

Today, nearly 5 years later, she is a bright, happy, healthy first grader, with two younger (non-PHP) siblings. She loves to draw, names each of her stuffed animals, and plays soccer in a community league. We have only had one instance of illness when she needed her IM injection of solu-cortef. She still gets PT through the school, but she is making great strides (pun intended). To look at her, unless you noticed the MedicAlert bracelet she wears, you'd never know she is “sick”. Ultimately, I am grateful for her diagnosis, because we no longer wonder why she had those earlier symptoms. Nearly all of them are attributed to her hormone deficiencies, and nearly all of them are completely gone at this point. I am grateful that her condition is treatable, because so many parents face much poorer odds for their own children. Also, I am grateful that we are not alone in this journey. I have “met” some wonderful parents (online) through an organization called The MAGIC Foundation, which is geared towards raising awareness about growth hormone deficiency and the conditions that cause it. I am looking forward to meeting several of these parents and their children – who are also affected by PHP – this summer at MAGIC's annual Children's Convention.

There are some questions that remain, not the least of which is whether or not she'll be able to have children of her own someday. But we're shelving those questions for tomorrow, and enjoying the beautiful girl God has blessed us with today.

Friday, February 28th is World Rare Disease Day. Panhypopituitarism is considered a rare disease, because fewer than 200,000 people are affected by it in the US. Please visit the following links for more information on how you can help spread awareness of PHP and other rare diseases.

http://www.rarediseaseday.org/

http://globalgenes.org/

www.magicfoundation.org/

Additionally, in many states, EMS do not carry those life-saving vials of solu-cortef in the ambulance, and they are not permitted to administer patient-carried medications. There is a petition on the whitehouse.gov website to work towards a national protocol for EMS to carry these inexpensive (and crucial) vials on-board. Please consider viewing/signing this petition at:

https://petitions.whitehouse.gov/petition/empower-ems-nationwide-administer-life-saving-drug-solucortef-emergencies-adrenal-insufficient/NvTT0h6b

2 comments:

  1. Beautifully written by a lady with a beautiful heart. So proud to be your friend.

    ReplyDelete
  2. My daughter also has PHP! Would love to follow your journey!!

    ReplyDelete

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