|Guest Blog Post 7: Our Family’s Story by Josephine Angst With this blog we are hoping to bring awareness and sensitivity to all People across the world big or small. We believe with knowledge comes compassion, and we hope to pass on the knowledge we obtain along the way.
Our Story about our daughter who just happens to be Growth Hormone Deficient as is relates to Ectopic Pituitary Dwarfism.
Our story begins with our 4 year old daughter Mikayla (AKA: MIGHTY MIKAYLA)whom I also admire and am so very proud of. I don’t think many would be as brave and strong as she, by four years old she has been through more than I have been in my entire 37 years.
Mikayla 4th birthday
Mikayla is the 3rd of my four children; she has been diagnosed with Pituitary Dwarfism/Growth Hormone Deficient due to Ectopic Posterior Pituitary at 1 1/2 years old (learn more about Growth Hormone Deficiency online at the Major Aspects of Growth In Children (MAGIC website). Our journey with Mikayla has been a long one and unfortunately with no end in sight but still we thank God everyday for the medical break throughs that have made her quality of life possible or even life at all. My pregnancy with Mikayla was just like any other I had prior (2) but right from birth I knew something was different (mothers intuition is never wrong). I was admitted to the hospital to deliver Mikayla a few days earlier than planned because my amniotic fluid was low so doctors thought it would be in her best interest to be induced. That plan did not work out because apparently she went into distress and I needed to have a c-section. All went well though despite the drama. A healthily (so we thought) 6lb 11oz beautiful baby girl was born. I knew something was different from the start I didn’t have such small babies, my two prior babies were 8lbs, and 8 lbs 9 oz (even my last baby after Mikayla was 9lbs,3oz) so I wondered from the beginning why she was so small, but everyone told me she was fine.
Throughout her first baby months Mikayla seemed little different to me as compared to my other two children. She seemed a little more tired, weaker and not as hungry. Mikayla would drink a 4 oz bottle and spit back up half of it. I was so worried but it was not until her 4month well visit that her doctors finally agreed with me. Something was not right; she had fallen of the so called CURVE. All mothers know what I mean by the dreaded CURVE. It is a national standard that all babies are compared to that guides doctors to know if your child is growing normal.
Normal what is that, four children later discovered there are many different kinds of normal? Mikayla’s pediatrician thought the best place to start out to find out why she was not growing properly would be the Feeding and Swallowing Center at St. Joseph Hospital. He thought that maybe it was nutritional being she was spitting up so much and eventually found she did have GERD.
He also suggested we make an appointment at and Endocrinologist at St. Joseph Children’s Hospital as well. I left that doctors office that day heartbroken. I was so scared and couldn’t believe what I had just heard “FAILURE TO THRIVE” what does that mean anyway, were they telling me she was dying? I know now they were. I made the first possible appointment at the FASC (Feeding and Swallowing Center) where I spent 2 days a week for the next year. They would watch me feed her through a double sided mirror window. Maybe it was me maybe I wasn’t feeding her correctly I thought. Oh my God how horrible this was. Mikayla also received OT (Occupational Therapy) there for her trunk muscles, her GERD had torn right through her stomached muscles and they needed to be repaired with exercise and she needed to have her abdomen taped with this tape that looked like packing tape. I would watch as this therapy went on through a window and I was instructed that no matter how much she cries I should not come in unless I am called. They told me this was going to be very hard work for her and I needed to be strong. Strong was an understatement, my baby would call for me and I would watch and cry behind the window because I know I couldn’t help her. They would tape her legs together so she could learn to crawl and so many other things that I couldn’t bare to watch. Although the therapy went well, it still didn’t solve her growing issue. Week after week they would measure her and weigh her and still nothing.
We finally got an appointment with an Endocrinologist (took a few months to get one) we were nervous but anxious. We needed to know what was going on and we were hoping she was our miracle. We went into the doctor’s office and she took Mikayla into her hands and called her “floppy” like a rag doll. I was in shock I haven’t even noticed this. The doctor pointed out her bossing forehead, and thought that the white of her eyes were bluish color (which could of meant she had x factor or Brittal Bone Disease) that would have been very bad. She couldn’t help us and referred us to a Genetic Counselor. The Endo had also suggested that we call in Early Intervention Services which is a program the state runs to help children receive all the therapeutic services they need. We followed her instruction and soon after Mikayla was receiving in home therapies such as (physical therapy, occupational therapy, speech therapy, and DI direct instruction) these service would continue until she was three years old several times a week.
We weren’t sure what to expect from the appointment with the Genetic doctor but we couldn’t wait to get there, someone had to know why Mikayla wasn’t growing and was so weak. So many different theories were explored (Celiac disease, Hypo-Achondrplysia, Brittal bone disease, Cystic fibrosis). Mikayla had a full genetic screening done and no answer. I can say I have never been so afraid in my life. Time was going by and still she wasn’t growing and even though I would have dreaded to hear she had one of the horrific things, at least I would finally have an answer. Our lives were on hold how could I go on being happy if I didn’t know whether my daughter would live or die. From here we were told that she should be re-tested in 6 months to a year for Hypo Achondroplysia or Dwarfism. This is a kind of Dwarfism that isn’t the typical; you are proportioned correctly however you remain very small. This seemed like a reasonable answer but it could never be confirmed. We couldn’t just wait and see and let it sit. We saw a skeletal dysplasia specialist in NYC Cornell, she had x-rays of her long bones and plenty of blood work and there they found that she definitely did not have any form of Skeletal Dysplasia. The doctors there referred us back to the Endocrinologist. For the first time we heard the words Growth Hormone Def. they felt it fit the pattern of this and it should be explored. So back to the Endo it is.
This appointment with the Endo would be better and help lead us into the right direction. The doctor scheduled a MRI of her Pituitary gland. We waited for the results and then finally an answer. The doctor confirmed she had a problem with her pituitary gland. Ectopic Posterior Pituitary Gland with a small stem. The Growth Hormone that we all naturally produce she couldn’t make enough of. I didn’t know it at first but I soon learned that Growth Hormone does not only effect your growth (how tall you will become) but it also contributes to your muscle tone and your body’s ability to maintain its sugar levels (hypoglycemic). This explains a lot, Mikayla had very low muscle tone and was very Hypoglycemic she had even been hospitalized once for it. The Endo had to order another test before she could start treatment (this one is for the insurance companies) it is called a STIM test. What a horrible test, she couldn’t make it through the whole thing. This test requires a series of injections to raise and lower your blood sugar levels while they collect your blood samples. Mikayla’s blood sugar dropped to 32 that day and the test was canceled. The doctor saw all she had to see and we were told we had nothing to worry about the diagnoses was clear she was definitely Growth Hormone Def. The plan of action was that she would have to wait until she was two years old to start on her Hormone replacement therapy. I was told that I would have to learn to give her a daily injection of GH. This would continue at the minimum until puberty or longer depending on her situation it would be a wait and see thing. Mikayla had to have further x-rays called a bone age. This tells how old your bones are and usually determines how much growing you have, the longer the better. Mikayla has approximately 9 months delayed bone growth.
One day after Mikayla’s second birthday she started her GH Therapy. I had to be strong and give her these shots even though she begs me not to. Mikayla’s life depends on it. Most people do not understand and feel it is just a vanity thing. We have learned that it is so much more. Yes because of the Hormone replacement therapy Mikayla will be taller than her expected height of 4’2″ she will reach only her growth potential based on her on family genetics which anyone who knows her parents know that isn’t very tall any was she will probably be around 4’11” to 5’2″ . Mikayla will also have stronger muscles (includes heart muscle) and her Hypoglycemia is under control. This has affected many things along the ways and Mikayla has many physical and learning delays but she is THRIVING and for the first time since she was four months old she is on the dreaded CURVE!! She went from -5 to the 10% in two years.
Mikayla still receives speech and physical therapy and is in a special services preschool. It is hard for Mikayla to make friends with peers her own age as they see her as a baby. We see her doctor every three months to have her medication adjusted and to monitor her growth. This has also affected her teeth as they are also bones and do not grow properly. Mikayla has had a lot of dental surgery. Sometimes it seems like every year we discover something new that is affected by her condition, from her ability to learn to her physical health. We don’t know what the future holds but we do know how far we’ve come and are so very thankful to God for this chance he has given her to THRIVE to the best of her ability.
Thank you for this opportunity to spill my thoughts and thank you for listening.
http://mightymikayla.blogspot.com/ Meet Mikayla our little blessing. She is a vibrant and beautiful little girl. She will capture your heart and make you smile who just happens to be Growth Hormone Deficient as is relates to Ectopic Pituitary Dwarfism. We have finally learned the world must conform to Mikayla not Mikayla to the world.
With this blog we are hoping to bring awareness and sensitivity to all People across the world big or small. We believe with knowledge comes compassion, and we hope to pass on the knowledge we obtain along the way to all that stop her.
Major Aspects of Growth In Children (MAGIC) is made up of 25,000+ families whose children (and affected adults) have growth hormone deficiency or other medical conditions which affect their growth. While growth hormone deficiency is the most commonly known disorder it is not the most common cause of growth failure. We- the parents of MAGIC, fought to find answers for our children’s lack of growth. It was not an easy road. And because our children were finally diagnosed with growth hormone deficiency and a variety of other growth disorders, we are passionate about getting information “out there” for other parents.
Welcome Luci Magic Foundation George The Race Blog and Pics Donate Learn more about…
Donate Here! http://www.luciandgeorge.com/on The Magic Foundation web site. Please visit this site I know that once you read it you will feel as touched and eager to help as I was, having a child with a illness can be challenging and life changing but if we all lend a helping hand in some small way it will make a BIG difference to a family.