ONH / SOD

On Jun 18 2008, Rachel Steen Wrote:
Hi Everyone,
Just wanted to take a moment to encourage all of you to please consider coming to the convention in July. For those of you who have not been to a convention I can tell you the first year I went I cried the whole time. It was so wonderful to meet people who knew first hand what we were experiencing. We have an amazing line up of speakers this year and our first ever ONH panel made up of adults with ONH! They will be avaiable to share their stories and answer any of your questions. If you want more information please let me know, also look on the website at the convention brochure, it gives all the speaker details and other convention information. I promise it will be a weekend you will never forget. (In fact, I can even remember what I wore to my first convention, it was a weekend that provided me with more hope and information than I ever could have imagined!)
Rachel
ONH-SOD Division Consultant
The MAGIC Foundation
sod-onh@magicfoundation.org

On May 27 2008, Maddie Wrote:
Hi my name is Maddie, I have a beautiful little girl named Mackenzie. She's now nine weeks old. Three weeks ago I took her to her primary physichian for a check up at which point her doctor noticed her nystagmus (which I just chalked up to week eye muscels). Two days later we were at CHOP getting an MRI and the next day we were seeing a neurologist who diagnosed her with SOD. It was the hardest thing in the world to hear that something was wrong with my baby girl and there was nothing that I could do about it. One week later we were back down at CHOP to see a nuro opthamologist. He told us that her left optic nerve was extremely small but that her right optic nerve although small was pretty normal. We go back in August to see how much vision she will have(since she's so young they couldn't really tell). Although the neuro opthamalogist did tell me that all she was missing was her septum pellucidum and that the rest of her brain looked just fine. He told me that he tought that she would mentally function just fine. Just last week we got all her blood work done and in June we go see the endocrinologist. At this point I just want all the poking and proding to stop. Watching the nurses try and put an IV in my little baby was almost unbearable and then to have to turn around two weeks later and stick her again for more testing was just too much. But I keep telling myslef that everything will be okay. Sometimes I just feel like they have to be wrong, all those doctors just have to be wrong. I look at my beautiful baby girl and she's perfect I just don't understand. I have to admitt I am feeling a bit alone in this whole thing. No one in my family has every dealt with anything like this and my husband is in the army and is getting ready to deploy to Iraq and he has to be so focused with his training. If anyone out there can give me any more information on children with SOD/ONH or just wants to talk I would love to hear from them. Please contact me at cocalati03@aol.com

On Apr 11 2008, anonymous Wrote:
My son is 17 yrs old. He's been diagnosed with Septo Optic Dysplasia and Schizencephaly.

Physically, he is very handsome. He is totally blind, epileptic, and small. He is very strong, though, and very flexible. He started walking on his own at 5 yrs, though he will not walk very far, and will usually walk short distances with a sighted guide or use a wheelchair for distance. He has a very good sense of balance, and loves to swing or hang out in his rocking-recliner. Swimming is also a favorite activity.

Mentally, he is very delayed. He is non-verbal and diaper dependent. He has autistic behavior, and will often rage uncontrollably and engage in self abusive behavior, mainly focused on the right side of his body. He does not like to swallow solids, and after years of vomiting and refusal, he is finally able and willing to chew on foods, though he will spit it back out when he is through. He is very tactily defensive, and will often use his feet like his hands to explore something first. My son has sleeping issues, also, and will often not go to sleep for days if he is not medicated.

On the positive side, he has a good sense of where he is in space and where he is in a familiar room. He makes choices to go from the swing to his chair or to the bathroom to play in the sink. He will often find me if I am sitting nearby and pull me in the direction of where he wants to go. Since he has figured out how to turn the water on and off, he will compulsively turn it on and off because he can. When given a favorite switch he will hit it up to 400 times in a day. I guess that is the autism, or compulsive behavior, coming through. If he is hungry he will start by holding his hands out, or grab a towel and put it under his chin. If I do not respond in time, he will gradually get louder until I do respond. When he is done with his cup he will hold it out and wait for me to grab it. If he soils himself or is about to, he has put two and two together that he will get a shower, and will often jump up and grab me or head toward the bathroom.

Personal choices regarding meds, etc... on my part follow quality of life, vs. quantity.

Tegretol knocks him out, so I will not give him that during the day. He gets it for bed and he is on Lamictol during the day. From the time he was 4yr to 8 yrs he was hospitalized abt. 30 times and on life support 7 times from prolonged seizures. The longest one was an hour and a half. He clenches up and quits breathing. We keep rectal diastat around for long seizures (much easier than fighting for a vein), I have found that the jaw-thrust maneuver is the most efficient at keeping his airway open (in addition to an occasional baby suction of the saliva so he doesn't aspirate). He still has seizures every few months, but he has not been hospitalized in almost 10 yrs.

I video taped my son in a rage for the neurologist so that I could give him meds to calm him as needed. That has been a life saver. In my own personal opinion, his rages could be a pre-seizure aura, and since he has been getting that additional med boost his seizures have decreased. It could be his other meds maintaining, but I really think this has something to do with it.

Lithium was given when he was little, but it made him stay up for days, and so I asked for extensive testing, and the doctors decided it wasn't needed.

Growth Hormone was used briefly, until I worked at a state institution for a while and realized how hard it was to dress a 100 lb man. Realizing I was going to care for my son for life, I have chosen to keep him small. I'm glad for that choice. He is 5 ft now and 85 lbs. His dad was 6'2, 200 lbs. I would not be able to handle my son if he were that big and finding a respite caregiver for a small teenager is difficult enough, let alone a large teen. That would be a nightmare.

We use Melatonin to assist with sleeping as well. Melatonin is naturally produced in the brain through vision. My son has no vision, and thus a lack of Melatonin, and hence the sleeping disorder.

I have a teenaged daughter as well, and she has been a great sister. It can be tough for her when my son is raging, or when I can't go do something because of his behavior at the time, and I realize that. I've really tried to give her some alone time with me as well, to give her opportunities to succeed at her own activities, and to encourage her as much as possible. I believe in God and heaven, and I remind her often that her brother will thank her someday for being such a great sister to him.

Anyway, I hope my info about my son helps if anyone is interested, especially those who are new parents. It's a big job. Having a good support system is essential. My parents have been awesome, and I could not have made it this far without them. My son's dad has been out of our lives since he has been a baby and I have raised him on my own. Just remember, when it all seems overwhelming, go get yourself a good cup of coffee, breathe deep, enjoy a sunset, and always say thank you for the little things. You can do it! I have! :) T

On Mar 10 2008, Jody Goratowski Wrote:
I have a daughter who is now 8 with SOD-ONH. She was diagnosed at 4 months. I am a single parent and raisng her has been difficult at times. She is legally blind but is able to see quite well. She had heart surgery when she was just 3. She had a PDA that needed to be repaired and when she was 5 she has eye surgery. She is struggling with her weight and i've tried everything to make sure that she is happy and healthy. She is the love of my life and couldnt see myself without her. I also have a 3 yr old daughter and they get along great. They told me that she would never be able to drive and as we all know, driving is something all kids look forward to. It kills me to think that some day I have to tell her that is will never happen. God blessed me with a TRUE ANGEL and for that I THANK HIM!!! If there is anyone else in milwaukee, wi that needs to talk or maybe just share stories about our truely beautiful kids please email me at hailee_rain@yahoo.com.

On Mar 01 2008, Dana Olinger Wrote:
hello my name is Dana Olinger my son konnor was diagnosed with SOD/ONH at 2 weeks of age after a head MRI determined that they didnt know how much of his septum pellucidum was there. Also How much of his Corpus Collosum which sends messages back and forth to both sides of the brain. Konnor is not Mentally retarted, but is legally blind. We were just resently told that he can see light for sure...but still do not know how far to an extent his vision is. He takes Cortef(for the stress hormone), Thyroid hormone, and growth hormone. He is 11 months old now and he still cannot craw, and his legs are shaky when he tries to stand, he goes to therapy, and it seems to really be helping he is putting some weight on his legs. They have not told us anything about him not being able to ever walk or anything so im hoping it will just be delayed. Our Neurologist told us there may be some behavioral issues, and somtimes i already see it. It scares me. I think alot of it though is that he is so spoiled! but how can you not! He just loves to be held and loves to lay on his belly. I hear so much about these seizures, but konnor has never had one (knock on wood). It worries me all the time. He doesnt seem to really like solid food all the much. I think we are going to have to see a speech therapist to help us out on that one. I have lost alot of faith, and im trying to get back into my religion, its just really hard. I love my son so much and would do anything. My Husband and I just resentlly saw a stem cell study in china that can make a blind child see, and also helps with the growth hormone! Its contrivesal in my family, my mom disagrees with it. However she isnt the one that has to see her child go through this world blind! No matter what ill love him but it is somthing we are serously considering. The web site is www.stemcellschina.com and my son also has a website at www.konnorbradley.9f.com! if anyone would like to talk about there kids please email me at olinger06@yahoo.com.....i live in Ohio and would also be interested in anyone else who lives here too!

On Mar 01 2008, Dawn Wrote:
To everyone posting on here I would just like to say I feel for you all and like you all I share with you my son who is now 17 years old and was diagnosed at birth with SOD. The only noticeable facial issues are he is blind in his left eye and has worn a prosthetic eye since he was 6 months old. His eye did not developed all the way and there is no optic nerve. Also at 6 months I was told he would probably never walk and be severely mentally retarded.
My son was diagnosed at UTMB in Galveston Texas at birth and at that time they were really unfamiliar with this type of disease. I was also told that with this diagnoses other things could come about and they did. This is why it is so important to have your child in specialists care.
Through the years of his life we have had many an obstacle to overcome. With this diagnoses came several other diagnoses just as I was told. Although I didn’t know what that would be here’s the list of them. Mild cerebral palsy at 6 months, pituitary dwarfism at 7 years, seizure disorder at 11 years, behavior issues at 11 years, and a hypothyroid at 15 years. With all these diagnosis he takes many medications of different sorts.
My son is now in the care of the teams (endocrinology, neurology, and orthopedics) at Rady Children’s Hospital of San Diego, CA and they are wonderful! A psychiatrist, pediatrician, ophthalmologist, ocularist, counselor, and physical therapist also see him.
My son is in special education classes and has an IEP, which includes mental retardation. He is mobile he walks! And is very verbal although he does not read I will take the fact he can communicate, hold conversations, and retain some memory but can never be left alone and will be under supervision his entire life.
Although he has lived with this and has encountered many challenges throughout his life, he still loves life! He has overcome many obstacles in his life and is still overcoming them. He is my biggest joy and helps me to remember God sent him to me to love and to cherish everyday no matter how difficult of a hardship and struggle it is he is Gods gift to me.

If anyone would like to ask more questions or stay in contact I can be reached at
dawnkbrainard@yahoo.com

On Feb 29 2008, Michelle Keester Wrote:
To Katie,
I have a 13 yr old daughter, she is growth hormone deficient and visually impaired. those are the only two issues we deal with, and the growth hormone didn't start until 4th grade. She is in 7th grade and an A-B student, on the honor roll. She takes dance. The main accomadations for her at school are sitting in the front of the class and making sure the teacher reads what they are writting on the boards or overhead projectors. My email is: mjkeest@mchsi.com

On Feb 08 2008, Jenna Wrote:
Hello,

My name is Jenna and my daughter Miriam has SOD and Panhypo. She is 3 years old and was diagnosed with SOD at 4 months, panhypo at 6 months. My daughter has no vision. I am looking for other parents who would like to email back and forward. My email address is jennared77@yahoo.com.

Also my husband and I just moved near Austin TX. We had hoped to find a good pediatric endocrinologist in Austin, we have only found one and we are not happy at all. Her office is very impersonal and we feel like "just another patient". I am hoping someone might be able to point me in the direction of more ped. endocrinologists in the Austin, Tx area.

Thanks so much!

On Feb 04 2008, Susan ONH SOD moderator Wrote:
I know a GREAT one- she is the doctor my daughter sees and she is fantastic as well as the rest of the practice. They are at Mt Sinai Medical Center on the upper east side and her name is Madeleine Harbison. The phone number for her assistant Eduardo is 212.241.8210.
Good luck.

On Feb 04 2008, yanelasalazar27@hotmail.com Wrote:
Hello,
My daughter is very short for her age. I'd like to find a pediatric endocrinologist who has experience with growth estimulation in NYC. Please let me know if you know one.
Thanks!

On Feb 01 2008, Katie Wrote:
I have a son that is 8months old with SOD. I notice that his muscles are always tense. Is this normal? I am just so scared that he my have mental retardation. Does anyone have a child w/SOD that is normal?

On Jan 29 2008, anonymous Wrote:

On Sep 15 2007, Susan-ONH SOD moderator Wrote:
RE: Message from Crystal
I sympathize with your problem, Cyrstal. My daughter was born at the 85 percentile and made her milestones for the first 9 months or so due to the fact that she was so big to begin with. Then she quickly took the next 9 months to fall to below the 5 percentile. She was not diagnosed with SOD until the age of 4, after much trying to find a doctor who would finally tell me what was wrong with her. She has subsequently been receiving growth hormone injections since then (she is now 6) and is doing great and finally at the 15th percentile.
I would say if your child was diagnosed with SOD at birth, there is a very strong likelyhood that there is a growth deficiency related to that. Personally if it were my child (and i speak from experience)I would make sure he was seen by a pediatric endocrinologist at least every 6 months if not every 3 months.
When my daughter had all of her health issues, and was falling off to below the 5 percentile we lived in an area of the northeast where NO ONE knew about these disorders either. All I can say is I travelled all over finally to NY City to get her diagnosed, and now I take her there at least twice a year to meet with her doctor.
I know it can be hard to travel to see the doctors you need to, but I am sure that in any big city (maybe San Fransisco) you can find the care your son will need.

On Sep 15 2007, Crystal Bates Wrote:
Hi, my name is Crystal and I am in the process of adopting a beautiful little boy, now 9 mo but 2 mo premature, who was diagnosed with SOD along with some other brain issues. I'm still waiting on the final diagnosis of the other problems. He is being seen/monitored at Stanford University and I know that they are some of the best doctors there are, but I would really like input from other parents. No one knows kids as well as their parents. At any rate, his labs came out with everything in the normal range, and I know that he is very long for his age, but I have to wonder, is this going to change? Have other parents had a child who started out with everything working correctly and then later had to have hormone replacements? Because he is growing correctly at this point, the Endo doesn't want to see him for another year and that sort of scares me. I live in Redding, CA and when I say that NO ONE here has ever heard of this condition, I really mean no one. I can't get any answers from doctors here, and we have no Pediatric specialists of any kind. So far he is meeting his milestones, again surprising considering what he was put through before birth, and has some vision although I don't know how much. I just want to have some idea of what to expect so that I can help him as much as possible. Does anyone have any insight or experience in this?

On Sep 11 2007, Danette Ebanks Wrote:
I have a 9 old month daughter who was diagnoses with s.o.d. only a month ago, she has inward and outward movement of the eyes (both eyes) she weights 25 pounds and 72 cm long so far the neurologist and endoctrinologist says the growth is not a problem as of yet, we also did all the hormone test required for this and the only one that showed up a little above average is estradiol. I live in the bayislands of Honduras but went online a found this website I have an adddress in miami. I would love to take my daughter to the u.s. so I can get opinion from the doctors there. She is just rolling over as far as we can tell it's only the eye problem and her psycomtor system is very slow, that was what leed us to this anyway please answer me I would really like to know if her weight and lenght is fine

On Sep 03 2007, From Susan, ONH MOD moderator Wrote:
RE: Message from Sue.
You have come to the right place! I do not know what you mean by the bloodwork came out OK, I amagine with SOD there will be some need for growth hormone treatment, and if she is always very thirsty you might want to make sure her cortisol and blood sugar level is checked as well. If you are not happy with the diagnosis from her endocrinologist, then I encourage you to find another one and get a second set of bloodwork done to make sure she is treated correctly. It is good that you are a concerned grandparent, and maybe you can state where you live and one of the other parents who read the boards can suggest someone in your area?

On Sep 03 2007, Sue Wrote:
My name is Sue
I have a 13 month old grandaughter who was diagnosed with SOD and Nystagmus in both eyes in May this year. We saw an Endocronologist who took bloods which came back OK for now. I feel I have not been given adequate information for the present time and also for the future. I have read with great interest the comments from parents etc. My munchkin Kacie (grandaughter name) has very little vision in both eyes and rapid movement. She is and has always been a very sociable baby, so happy, with a wild personality. She has difficulty I've noticed with temperature control - is always hot and drinks a great deal. I'd say she is developing and adapting well, but am so afraid of her developing dwarfism, diabetes etc. Is very difficult to
monitor her as much as I'd like to as we see her only at weekends as her mum kicked out my son when Kacie was 2 daya old, for another man.
If anyone could help in directing me to the appropriate authorites/society's etc I would be very grateful

On Aug 19 2007, anonymous Wrote:
Devin was born with deMorsiers syn. 18 years ago. He attends high school and summer day camp with the city. With all of his health and emotional issues he is still a happy, music loving young man. Debra in Colorado

On Aug 07 2007, jb Wrote:
Does anyone out there have a child with SOD that is very moody, she throws fits and is very argumentative and has been since a small child. Is there any meds that can be given for this or is something that needs some pyschological treatments?? i have taken her to a pyschologists but it is not helping much.

On Aug 07 2007, jb Wrote:
my daughter has SOD and was just diagnosed in March this year. She has diabetes insipidus and is hypothyroid. my dr put her on desmopressin and synthroid we also have her on Byetta (off lable) for the hunger and it has helped IMMENSELY. She still has some behavioral issues on eating as she has been this way since birth it will take some time for her to reprogram her brain that she is not hungry. she has lost alot of weight, in Feb 07 she was 247# 5'4" and now she is 190# 5'4 1/2" she is 14 yrs old. i hope that this helps u..

On Jul 16 2007, Amanda Sipple Wrote:
Hi Everyone-
My name is Amanda and I am the proud mom of two boys (Number 3 is coming in August!). My oldest son, Kasen, who is now 4 was born with SOD/ONH. He was diagnosed at 7 weeks of age. I live in a small town in Nebraska and we have serious problems with our school district. Kasen was also diagnosed with Autism last fall. He is getting weekly therapy with PT, OT, Speech, and Vision. Each therapist sees him for about 30 min a week. Is this close to what your children get? I don't feel like it is enough at all! We also are having behavioral issues. Kasen does not tolerate his 2 year old brother, Kamden, at all. They are separated all of the time. Car rides are almost too much to handle anymore. Can anyone relate? Our third son is due in August, and I am terrified of what life will be like then! Any input would be greatly appreciated!

On Jul 12 2007, Carolyn Wrote:
Do all children with ONH usually have special or enhanced abilities in some other functions? My ONH son is only 4 and we struggle with everything so I was just curious.

On Jul 05 2007, Rachel Steen Wrote:
There is not a surgery to regenerate the nerve. As for patching the eye, this is VERY controversial. It really depends on the vision your child has in their eyes, such as let's say your child's right eye has good vision, but the left eye is limited. Putting a patch on the good eye really limits your child's vision and would be horrible for the child to go through. Also, nystagmus is the eye searching for the best view, limiting this movement can limit the vision. My son had very pronounced nystagmus when he was younger, as he has gotten older it has decreased significantly, it does pop up when he is tired, etc. I would strongly suggest getting a second opinion by a ped specialist if your child has limited vision and they suggest patching, it is a personal choice, but get all the info you can first. If you have any questions please let me know.
Rachel Steen
ONH-SOD Division Consultant
sod-onh@magicfoundation.org

On Jun 22 2007, Jamie Wrote:
FYI- MAGIC is working on establishing a new message board for everyone (all disorders) which is about Insurance issues. It should be up next week. If you have questions, personal experiences which you can share to help others-please look out for this Board and post so that families can finally get some real help from those who have been there! If you have a problem, feel free to post it...I am sure you will not be alone!

On Jun 15 2007, anonymous Wrote:
My name is Susan and I have a 5 1/2 year old dughter who also has nystagmus in both eyes and estropia of the left eye.
When she was first diagnosed our opthalmologist recommended "patching and dropping" the good eye in an effort to strenghten and turn the wandering eye back in the right direction. We did this therapy as an alternative to surgery even though there was NO site in the wandering eye, and it worked for the time being- her eyes are back on target- only when she gets very tired can you see any movement in her eyes.
I do not know how old your child is or the severity of the site deficit in his eyes, but I offer this as an alternative to surgery until the surgery becomes the only option.
I understand that at a certain point the brain no longer responds to that kind of Optic Strength Training and surgery becomes the only viable solution.
If this is your son's case, then I have heard of many children and adults who have had this surgery quite successfully on a ouptaient basis and experience minimal discomfort afterwards.
I understand there is a bit of healing time and sensitivity to light as well as some patch wearing depending on the extent of the surgery. I aslo understand it is reccommeded to have one eye done at a time, and that several of these surgeries may have to be done throughout a patient's life depending on their individual situation.
I hope this has been helpful for you as well as given you some food for thought- please let me know if you need any more information.

Susan
ONH SOD consultant
Magic Foundation

On Jun 15 2007, Christy Wrote:
My son has Optic Nerve Hypoplasia. He has nystagmus in both eyes and estropia of the left eye(lazy eye). I have recently been told that surgery could now be an option to help improve his vision. I know the nystagmus will not completely go away but it would improve a great deal. Has anyone's child had surgery for Optic Nerve Hypo and what were your results? If anyone could offer advice or info I'd greatly appreciate it.
Thank you
Christy

On Jun 05 2007, Rebecca Wrote:
My son has a condition known as 'absent septum pellucidum' where the midline of his brain is missing (basically). An MRI at 2 1/2 yrs old told us this as well as early ultra sounds. Associated with this condition is .... SOD and ONH, thyroid problems and growth issues and seizures. He is being monitored yearly and we have been told that puberty is when we need to be extra vigilant.
Have they done an MRI? ... I am no doctor but I have done a load of reading up on this condition and your friend's condition kinda fits. Not sure if this helps :)

On Jun 04 2007, anonymous Wrote:
Hi,
My name is Rachel, I have a 9 yo son with ONH-SOD. From what you have
described it really sounds like ONH-SOD is a real possibility. I would
strongly suggest your friend have the endocrine work up, Growth hormone,
Cortisol. You may also like to print the ONH booklet from our website
and take it to her doctor. If they have the info in front of them they
can not ignore it. Growth hormone is something we need all our lives,
not just while we are
growing taller, it helps with so much more.
If you run into any more obstacles please do not hesitate to contact
me. Try the booklet first. We can also put you in touch with Dr. MArk
borchert, who is a neuro-ophtho, who specializes in ONH. He can be a great
resource. He mainly treats kids, but is willing to help others with
ONH. I have added you to our email group through Yahoo, please take a
moment to ask any questions. I will also post your letter to the group.

Rachel
ONH-SOD Division Consultant
The MAGIC Foundation

On May 25 2007, Jan Wrote:
Dear Magic Foundation,

I have a 59 year old friend who is totally blind because she was born without an optic nerve. She has struggled all her life with her weight. She has difficulty controlling her appetite. She is 4 feet, 8 inches tall and recently, her weight has been between 213 pounds and 230 pounds. She went through puberty very early, and had irregular periods. She has had very dry skin all of her life. She has always walked with a kind of "waddle," kind of swinging back and forth. She tends to walk on the outside edges of her feet. Her arms will not straighten out all of the way, and she tends to keep her hands in a closed position.
She is married to a man who is also blind since birth, and they function pretty well together, getting help with certain things. (For instance, I accompany them to many doctor appointments.) She works part time.
In 2001, she went through a period in which she could not maintain a normal body temperature. During this time, she could not think or respond properly, was having auditory hallucinations, and lost the capability to care for herself. After quite a few trips to the emergency room &/or walk-in clinic, she was finally admitted to the hospital. We were afraid we might lose her. Since then, an endocrinologist has been treating her with Synthroid for her low thyroid, and Niaspan to raise her body temperature.
During that year, I began reading about the hypothalamus and pituitary glands, which led me to read about a condition called Septo Optic Displasia / Optic Nerve Hypoplasia / DeMorsiers Syndrome. I questioned the endocrinologist about it when my friend first started seeing him in 2001, but he did not seem interested.
In January of this year (2007), my friend saw her primary care doctor for a checkup, and her temperature was 94.8, at first, but later was 96. I again brought up the question of a glandular problem. Her doctor was sending her back to the endocrinologist again anyway, and said we could ask the endocrinologist about the problem with low temperature, and if the thyroid and/or hypothalamus have anything to do with it. From December through April, her temperature was between 93 and 96, averaging 95.25. We do not take her temperature anymore, because the endocrinologist said not to – that a lower temperature is normal for her. He started her on Lisinopril to lower her blood pressure. He did recommend that she see a neurologist, if she wants to, regarding the other things.
Also recently, she has been diagnosed with degenerative arthritis, probably caused, or made worse, by her extra weight. Her knee pain has become very bad. She has had physical therapy, and is exercising. She is taking Tramadol HCL for pain, and Equaline triple strength glucosamine chondroiton complex. She will probably need knee surgery, but they cannot do it until she loses weight.
My concern is that it appears to me that my friend seems to me to have several symptoms of Septo Optic Displasia &/or other gladular problems, yet no doctor, as far as we know, has ever attempted a diagnosis. No one has ever tried to see if her various symptoms might be related. It seems likely that she was not diagnosed as an infant or a child because the condition might not have been known at that time. Maybe she does not have septo optic displasia, but what if she does? Even if she does have it, maybe nothing further can be done to help her, but what if something can be done? I am not talking about her getting vision or growing taller. I am not concerned about the dry skin, the waddle, the walking on the outside of her feet, or the arms that will not straighten all the way. Those are not important. Maintaining an appropriate body temperature is important, but so far, that seems mostly under control. (I hope it stays under control.) I am concerned about her difficulty with appetite control. If her problem with controlling her appetite has anything to do with septo optic dysplasia - her pituitary gland, or whatever gland, might there be a medicine/hormone replacement she could take that would help? If not, that is too bad. If so, what a terrible thing to miss out on that opportunity!
If my friend were six months old, or one or two years old, today, and had the same symptoms she has now, there probably would be doctors working on a diagnosis. Why not now?
My friend has not made an appointment with the neurologist yet, but when she does, I am thinking that (with her consent, of course) I should send a letter similar to this one to the neurologist. That way, the doctor could have a chance to read it ahead of time, before the appointment. That would let her know what kind of things my friend, her husband, and I are concerned about, and give her time to think about it, and do some research, if she needed to.
(Sigh!) Do you have any advice or comments?

On May 22 2007, anonymous Wrote:
testing this is really easy

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