Monday, May 2, 2011

Yuri & Septo-Optic Dysplasia

This was written by my dear friend Lyndsay. Thank for doing the leg work!

Hi everyone! I am the Godmother.. Now that doesn’t quite have the same ring to it as The Godfather but hey, what are ya gonna do?

We have all been doing some online research trying to figure out what exactly this means. I want to share with you what we found.

Please feel free to let us know if you find anything interesting that we might have missed.

First off! It looks like this is THE diagnosis that we have been waiting for! YAY!!

Now we just have to figure out who the right doctors are that we need to see so that Yuri can get to feeling better.

For those of you who have not already Googled and found the definition of Septo-Optic Dysplasia here it is:

What is Septo-Optic Dysplasia?

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often absence of the part of the brain that separates the anterior horns or the lateral ventricles of the brain. Symptoms may include blindness in one or both eyes, pupil dilation in response to light, rapid, involuntary to-and-fro movement of the eyes, inward and outward deviation of the eyes, low muscle tone, and hormonal problems. Seizures may also occur. In a few cases, prolonged yellow skin discoloration may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairmentor neurological problems.

http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm

As you all know Autumn found out that Yuri is legally blind and everyone can see that he has rapid, involuntary to-and-fro movement of the eyes. He also seems to have some pretty seriousdevelopmental delays.

When Yuri was diagnosed NO ONE mentioned that learning disabilities and developmental delays are a part of Yuri’s diagnosis. Now after doing our own research we can see that there is reason for little Yuri’s behavior.

Yuri has two out of the three “signs” of septo-optic dysplasia.. The first major feature would be the severely underdeveloped optic nerves and the second major feature is the underdevelopment of thepituitary gland.

The pituitary is a gland at the base of the brain that produces several hormones. These hormones help control growth, reproduction, and other critical body functions. Underdevelopment of the pituitary can lead to a shortage of many essential hormones. Most commonly, pituitary hypoplasia causes growth hormone deficiency, which results in slow growth and unusually short stature. Severe cases causepanhypopituitarism, a condition in which the pituitary produces no hormones. Panhypopituitarism is associated with slow growth, low blood sugar, genital abnormalities, and problems with sexual development.

The signs and symptoms of septo-optic dysplasia can vary significantly. Some researchers suggest that septo-optic dysplasia should actually be considered a group of related conditions rather than a single disorder. About one-third of people diagnosed with septo-optic dysplasia have all three major features; most affected individuals have two of the major features. In rare cases, septo-optic dysplasia is associated with additional signs and symptoms, including recurrent seizures, delayed development, and abnormal movements.

http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia

Typically people with Septo Optic Dysplasia have abnormalities of the brain. These abnormalities may include how the brain is formed and or how the brain works. While both usually occur, sometimes a child has a problem only with the structure of the brain and at other times, a child has a problem only with the function of the brain. All problems with the brain can range from mild to very serious. When a child is diagnosed with Septo-Optic Dysplasia he or she will undergo a number of evaluations and brain function tests. A Neurologist can look at the brain structure through the use of CT scan or MRI. After these tests are performed your doctor should be able to tell if there are major problems with the brain structure.

Yuri has a perfectly normal brain structure. The problem is in the brain function which can be much more difficult to evaluate.

Now we need to find out what all is affecting Yuri and how we can help him. The pituitary gland pretty much controls all the glands in the body and all the hormones that those glands create. This can affect growth which explains Yuri’s small stature, metabolism and sexual development. Some children who lack growth hormone also have low blood sugar which we still need to test Yuri for. We already know that he cannot tolerate dairy, soy or wheat. Adrenal glands which are also controlled by the pituitary make small amounts of cortisol at various times during the day. Cortisol is necessary to help the body create energy, control the blood sugar and allow for proper heart and lung function. Also, with a poorly functioning pituitary gland, the thyroid gland does not get the proper signal to make thyroid hormone when it is needed. Thyroid hormone helps in normal growth and helps make energy for the body to function. Lack of thyroid hormone can lead to poor growth, slowing of mental and muscle function, weight gain, feeling cold, hair loss, hoarse voice, brittle nails, and dry coarse skin. The pituitary gland also produces a hormone called Anti-diuretic Hormone that is responsible for keeping water in the body by controlling the amount of urine that is created. If you know Yuri you know that boy always had a dirty diaper… Without enough ADH a person cannot control the amount of urine and he could become dehydrated. The person lacking ADH feels thirsty, has a dry mouth and yet continues to make large amounts of urine. There is treatment for all of these potential problems. Yuri has a doctor appointment next month with the Endocrinologist who will hopefully be able to grasp what is going on with Yuri and what his body needs to function. Yuri never seems to be able to stop moving and just relax. We are praying that the Endocrinologist can help with the right medications.

http://www.magicfoundation.org/www/docs/101.115/optic-nerve-hypoplasia-septo-optic-dysplasia

Below I have listed the symptoms that Yuri displays that until now we did not know the cause:

GI issues - throwing up, sensitive tummy – Underdeveloped Pituitary Gland which can create problems with metabolizing food

Small head and stature – Lack of thyroid hormone can lead to poor growth

Awkward/jerky movements – In rare cases abnormal movements can be associated with Septo-Optic Dysplasia

Mental delay - Intellectual problems vary in severity among individuals

Everyone please pray that the Endocrinologist has the knowledge to help Yuri progress to the best of his abilities.

10 comments:

  1. OH Autumn!! I hope and pray that you find some sort of relief for little Yuri. Just remember you are doing great!!

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  2. I will pray for Yuri that the doctors can help him. Imagine Yuri when he's feeling better and has more control over his body!! I have alot of hope for him. Many years ago, my daughter had an incident with her health. By some symptoms, they were suspecting a tumor on her pitutary gland. We spent weeks visiting an endocrinologist. I remember being very nervous wondering what this all might mean for her. I specifically remember the doctor saying we have replacement hormomoes for all pituitary functions. Even if we removed her whole pituitary gland, we could replace all her hormomes. That was not the road we traveled, she ended up having a normal pituitary, but I never forgot all the details about the endocrine system we learned through our journey that summer. I know by what you wrote, Yuri diagnosis is more than just the pituitary, but I wanted to share our experience because there is hope that there is much help out there for sweet Yuri.

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  3. My cousin had an overactive thyroid (hyperthyroidism). I have an underactive thyroid (hypothyroid). As far as how it FEELS, an underactive thyroid makes you feel exhausted, slow-moving, slow-witted and always just so tired. My cousin said her hyperactive thyroid made her always nervous, always moving, and hard to focus. She said she had such a hard time sleeping, because she had to keep thinking, keep doing. So if his thyroid is goofed up, I would guess it's goofed on the hyperactive side!!!

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  4. I will pray for answers and for your family. Keep us posted on what the endocrinologist has to say. Always good to have answers isn't it?

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  5. Hi

    I have been following your journey and although I am not sure if the can help you a great and probably the best resource for different types of growth hormone issues and short stature not due to dwarfism (which is what my son has) is the Magic foundation. Fabulous group of people their website is http://www.magicfoundation.org Hope that helps

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  6. I hope so much that that dr. can help Yuri. WHat a blessing that would be for all of you. Praying.

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  7. praying the doctor finds the right medication for Yuri to start feeling better and for Autumn to have some rest. Thank you for posting all that information.

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  8. Hi
    (A very well written posting, by the way)
    I know it seems scary but once you find all the meds to help you’ll get a regime down for times when you give the meds. You’ll adjust to a “new normal” just like you did when the boys came home. If Yuri does start GH it’s not the end of the world with having to give injections. It will be a good thing, and you’ll be amazed at what you are capable of doing for your child. We used Nutropin AQ with the pen for injections. We did our injections nightly before bed to simulate natural GH release. Injecting in the thigh muscles, alternating by leg, worked best. One person was the holder, one person was the injector. It does take some insurance hoop jumping to get the GH approved so don’t be disgruntled. We saw results within weeks and it was nice to see. He also grew in nice thick hair! And his appetite improved, and he slept more soundly.
    Also with the DI, it’s different from other kids normal habits but you already know that. My best advice for the DI would be to make sure he stays hydrated in warm/hot weather You can even use a water spray bottle to keep him cool on his skin. My son’s 1 partially functioning kidney caused my son’s DI (nephrogenic DI) a different cause from Yuri’s but still the same effect. Everywhere you go just make sure his water bottle comes with him and you’ll be ok. Like you said it’s all fixable with today’s medical world-thankfully! Thankfully Yuri is in the best place for help. Here are some additional links you might find helpful.
    Best wishes!
    http://www.diabetesinsipidus.org/whatisdi.htm
    http://www.nutropin.com/about/

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  9. Hi Autumn,
    Since we believe our soon to be adopted 13 year old son has SOD I have gathered some info these last few months. Here are the endocrine related tests that are recommended.
    Amy

    The most valuable piece of
    information that I can give you is making sure your little one has the
    endocrine work up (blood work) AT LEAST once a year even if the initial
    findings are normal. Dr. Borchert and his team at LACH, suggest the
    following test to be preformed on newly diagnosed patients

    Fasting AM glucose
    Cortisol
    Free T4
    TSH
    IGF-1
    IGF-BP3
    Prolactin
    *if the child is <6mo of age, also test FSH and LH
    For repeat lab tests, they recommend:
    Free T4
    TSH
    Cortisol

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