Discussions By Condition: I cannot get a diagnosis.

My 5 yr old daughter has numerous issues & we can't seem to find answers!

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: Anonymous
  • April 1, 2009
  • 04:01 AM

Hi Everyone, I am new to this site & have been searching the web for answers on my 5 yr old daughter - but to no avail! Hopefully somebody can point me in the right direction here!

My daughter was born with cleft lip & palette, which we were not expecting at all. We had several ultra-sounds & they never detected it, even though it is quite severe & we can see it on the ultra-sounds now.

Shortly after birth, she was hospitalized for sleep apnea. But it didn't stop there. When she was 3 mns old, we had her 1st (& only to date) lip repair & what was supposed to be an in 1 day out the next, ended up being in & out of PICU for over 1 week with no answers to why she was struggling. We had numerous interns that would walk into the picu room & talk among themselves "diagnosing" her & saying scary things, but never giving us answers & to this day, we don't have answers.

During this time, she was also not reaching her milestones & we were informed that she had low muscle tone & that she was delayed in fine & gross motor skills. We were also told that she had some sort of connective tissue disorder - but they were unsure of what.

After her 1st surgery, we were in the hospital every several months fighting a new illness that her little body just couldn't fight. She got chicken pox that led to a staff infection, or would start throwing up & could not eat for a week & become severly dehydrated & refuse to eat, etc. So by 18 mn, we saw a genetics dr & he ordered a chromosonel test, which came back 47xxx. Now, this has given us answers to very few things. We were basically told she was born with 3 different wammys & we were going to have to deal with it.

But, the list goes on with her issues. Since a baby, she has had severe acid reflux. She was on medication for numerous yrs until recently. She does get pnemonia frequently from aspiration, but we believe that is due to her cleft palette & we are trying to get that repaired. Not only that, she has suffered from extreme constipation since an infant as well. She has been on & off myrilax since she was a baby & it is not uncommon for us to do a couple of enemas to get her even to go #2. Other issues are that she is extremely flat footed, lacks balance & has a severe gag reflux & it is nothing for her to throw up at the drop of a hat. She bruises extremely easily. She is 5 & it is nothing for her to take a 2-3 hr nap & then go to bed at 9p. She has always needed a nap during the day to function. She still struggles with fine & gross motor skills - for instance, she has a very difficult time writing or coloring or picking small things up with her fingers, holding a fork/spoon. For her fine & gross motor skills, she actually has taught herself to compensate greatly.

I could probably list more issues that we deal with, but I feel like there are so many issues & I am not even sure what is normal anymore. I guess we just want answers to what we are dealing with.

Obviously it is quite overwhelming & frustrating as we feel incredibly lost in this journey & need answers to why our daughter has so many issues going on with her! She is such a trooper!

Can anyone relate to what I am posting here or are we all alone?

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7 Replies:

  • I think you need to find a good geneticist in your area. A geneticist can figure out if there is an abnormality in the genes, and what you should be looking for and thinking about as your child grows.
    aquila 1263 Replies Flag this Response
  • I think you need to find a good geneticist in your area. A geneticist can figure out if there is an abnormality in the genes, and what you should be looking for and thinking about as your child grows.I would absolutely agree...if she were younger. At this point...at age five...her parents definitely need much more concrete information as to how to best meet her many physical, emotional, and developmental needs.I apologize as I am pressed for time at the moment. I will certainly return to address your daughter's many areas of need as best as I can. I have a more than fair amount of experience providing health care to children/adolescents with broad-spectrum problems/delays.Best,John<
    JonMac 165 Replies Flag this Response
  • Thank you responding. Sometimes I feel like we are crazy as we live with this day in & day out & experience these issues & it's like we are alone in this... Anyways, we did see a genetist when she was about 3 yrs old (we saw one in NY City before we had the chromosonal test done & he said there were definite issues - but we live in OK). Anyways, when we saw the genetist in our area when she was 3 yrs old, he basically said that she was born with numerous wammys & that we would just have to live with it. That was our answer. So, we honestly just got extremely discouraged & took a break for a 1 1/2 with testing & all. We have a new genetist that has moved to our area & we actually see him this month & so I am hoping for some sort of answers. I have been trying to find some sort of answer on the internet & when plugging in her sypmtoms, Noonan Syndrome seems to have numerous symptoms as she has - obviously she doesn't fit all of the symptoms but alot of them. I may be in left field here. Just trying to find some answers!
    Anonymous 42789 Replies Flag this Response
  • Thank you responding. Sometimes I feel like we are crazy as we live with this day in & day out & experience these issues & it's like we are alone in this... Anyways, we did see a genetist when she was about 3 yrs old (we saw one in NY City before we had the chromosonal test done & he said there were definite issues - but we live in OK). Anyways, when we saw the genetist in our area when she was 3 yrs old, he basically said that she was born with numerous wammys & that we would just have to live with it. That was our answer. So, we honestly just got extremely discouraged & took a break for a 1 1/2 with testing & all. We have a new genetist that has moved to our area & we actually see him this month & so I am hoping for some sort of answers. I have been trying to find some sort of answer on the internet & when plugging in her sypmtoms, Noonan Syndrome seems to have numerous symptoms as she has - obviously she doesn't fit all of the symptoms but alot of them. I may be in left field here. Just trying to find some answers!Hi emmom,It may certainly be viewed as merely an empty gesture for me to apologize for the U.S. health care community at large but after reading what you have said above I MUST say...I am sorry for what I consider the extremely POOR treatment you have received at the hands of "medical professionals" in both NYC and OK. "Definite issues" is, to the best of my knowledge, a diagnosis that I'm certain you, as her Mom, could have just as accurately made yourself without the cost and burden of traveling. Numerous "wammys"???? That is as shabby a "medical" diagnosis as I've ever had the misfortune to hear. Parents looking for answers and guidance deserve just that...and if the health care practitioner at hand is either unwilling or incapable of providing both, he/she should state that fact up front and refer out to a practitioner who is more experienced AND more interested in genetic amomalies and coordinating medical management of children with potentially serious developmental disabilities. You and your daughter both deserve much better than what you've experienced thus far.PLEASE don't torment yourself with uncertainties of what may or may not be "normal" regarding your daughter. I've found that there are infinite degrees of "normalcy" in our world and that no one person's definition is any more correct or accurate than yours or mine. The focus of importance now is determining exactly how you will go about meeting your daughter's physical, emotional, and spiritual health needs, both now and in the foreseeable future.It does definitely appear that she has some manifestations that are very consistent with some form of developmental disorder. Can you elaborate on all of her signs & symptoms and share with me the reasons that you believe she has Noonan Syndrome?Best regards,John<
    JonMac 165 Replies Flag this Response
  • Dear John,We have come to just "deal" with the healthcare system at this point. We are currently trying to find a surgeon to take her on to do the rest of her cleft lip & palette surgeries as we had a surgeon who did the first surgery & ended up leaving the hospital to do "beauty surgeries". She was 3 mns at the 1st surgery. Thus, we have been left in the dark & nobody will take her on because the proper surgeries weren't done in the beginning. (We have seen 1 in NYC - that's why we saw a geneticist there & he actually got our chromosone testings ordered so he was decent) But nobody will even think about touching her until she at least 6. She has had 1 surgery done & it was cosmetic. She still has a hole in her palette, a flat nose (you can see her mouth through her nostril), TONS of scar tissue under her lip, her premaxila is still not attached to the rest of her gums, 2 rotten teeth in the premaxila & about 5-6 behind them, etc (You get the point). We are now going the route of the Shriners & praying that they will take her on even with all her other issues.The reason why I wonder about Noonan Syndrome is because she has at least 1 of the symptoms in every catagory listed on their website. I obviously am not a dr. I am just a desperate mom who wants an answer. I can't imagine that these different issues that she is having are not somehow related. I have failed to mention in my above post that when she was about 2 yrs old, we went to an obgyn because her female parts were fused together (don't know medical term). When she would be hospitalized, they would have to bag her cause they couldn't do a cath. Well, the obgyn was able to seperate the fuse, but she also did an x-ray & told us she could not see her ovaries on the x-ray. She said she didn't know if that was normal or not as she doesn't normally see 2 yrs old??? What to think??? Also, she has had numerous UTI's & issues regarding that. We have done brain testings & heart testings & everything seemed to be okay there (praise God). But we have some many other issues going on as well. Now she is starting to REALLY complain about her legs always hurting. I can't help think that we have not been proactive enough in this situation. There are so many issues that we are dealing with that some of the ones that we deem "smaller" tend to get swept under the rug. I honestly think my dr's pain tolerance is unbelievable. For Noonan's I have highlighted the ones that she has in red that we know about:© SKELETAL DEFECTSCervical spine fusion (neck)ScoliososProminence of breast boneDepression of breast boneCubitus Valgus (elbow deformity) ??? (extremely double jointed)Polydactyly (having extra fingers or toes)Joint contractures or tightnessJoint hyperextensibility or loosenessOsteoporosisRetarded Bone ageShortness of statureBroad ForeheadSmall chinCherubism cheekbone deformity causing a lowering of the eyelid (appears as though person is looking upward as in angels and cherubs in renaisance paintings)Inguinal and umbilical herniasWinging of the scapulaHypotonia (low muscle tone) © GENITO-URINARY SYSTEMSUnderdeveloped primary sex organsCryptocordism (undescended testicles)Hypospadias(urethral opening misplaced)© LYMPHATIC SYSTEMPosterior Cervical Hygroma (webbed neck)Lymphedema (build-up of body fluid due to poor functioning of the lymphatic system© BEHAVIORAL/SOCIALChronic crying in infancyOverly SensitiveStubborn IrritableObsessive behavior; liking of routineOveractiveUnderactiveSquirmy/FidgetyWithdrawn/DepressedExtreme mood swingsAggressive behaviorShort attention span© DEVELOPMENTALDelayed pubertyLack of sexual developmentClumsy; poor coordinationGross motor delaysFine motor delaysPossible mental retardationMental retardationLearning disabilities© VISION/EYESWidely set eyes (hypertolerism) - could be from cleft lip & paletteDrooping of the eyelids (ptosis)Refractive errors in vision - have been advised to get her tested for dsylexiaInward or outward turning of the eyesStrabismus (crossed eyes) - not always but sometimesAnterior Uvetis (infllammation of the front part of the eyes )Nystagmusjerking movement of the eyes© SKINEdema of the back of hands and tops of feetSimian creases; deeply grooved palms and bottoms of feetHirsutism (excessive hair growth on body parts)Curly HairLow posterior hairlineCutaneous Lymphangioma(wart-like growth on the skin, very small, made up of abnormal lymph vessels)Keloids (excessive buildup of scar tissue on the skin following a cut or surgery) - extreme scar tissue under lip & have been told will need to remove surgicallyOver development of outer skin layer(hyperkeratosis)Pigmented birthmarks(nevus)Vitiglio(white patches on skin; lack of pigment cells)© CIRCULATORYBruises easilyVasculities(blood vessel inflammation;many types and causes)Thrombocytopenia (low platelet count)Amegakaryocytic Thrombocytopenia(low platelet count due to absence of platelet making cells;Blood Clotting DefectsVon Willebrand diseaseProlonged activated partial thromboplastin timePartial deficiency of Factor VIII:CPartial deficiency of Factor XI:CPartial deficiency of Factor XII:CCombined Coagulation deficiencies© HEARINGLow setIncomplete folding of earsThick helix of ear (outer rim)Chronic Otitis media (ear infections)Glue Ear (thick glue-like fluid behind ear drumMicrognathia (small mouth)High Arched palateDental problemsHypernasality Articulation DifficultiesSpeech and Language delaysPoor tongue control© NUTRITION AND EATING HABITSFailure to thrive as infantNG Tube feedings - almost did a mickey button before turned 3 due to eating problemsEating less than normal - as toddler/infantFaddy eaterDigestive/Intestinal problemsFrequent or forceful vomiting Swallowing difficultiesG-Tube feedings© PHYSICAL APPEARANCELarge Head - always in the 90% when infant/toddlerSmall HeadTriangular face shapeShort neck, webbed neck, posterior cervicalhygroma (extra skin on back of neck)Deeply grooved philtrum or top lip lineBluntly ended fingersExtra padding on fingers and toesDistended abdomen© HEARTPulmonary Valvular StenosisASD/VSDHeart MurmurCardiac Myopathy© MISCELLANEOUSElevated Alkaline Phosphate(an enzyme madethe liver or bone indicating liver problem, vit K deficiencyConvulsionsSeizuresAutoimmune DisfunctionAutoimmune Thyroiditis (disease of the thyroid gland immune system attacks thyroid gland)Hypoparathyroidism (affects calcium balance in the body)Malignant Hyperthermia (abnormal response to anesthesia causing extreme high temperature)Hydrocephaly (fluid on the brain)obviously, we are just guessing here - but something has to explain all of her issues. Some of the different symptoms I can't answer as we need to get extensive blood work done on her, but I am trying to prepare myself as when we do go get blood work it is a nightmare. She is able to literally pop the needle out of her veins due to her flexibility issues & double jointedness & it takes up to 10 times to get an iv in or blood drawn! NIGHTMARE!
    Anonymous 42789 Replies Flag this Response
  • I'm very sorry that the geneticist you saw was a waste of your time. Multiple "whammies" is a pretty poor way of explaining complicated medical syndromes to parents. Sometimes I think that doctors believe that patients aren't smart enough to grasp a diagnosis. This is not true-- if you have the name of something then you can begin to look for it yourself on the web. Anyway, there is a book that describes genetic syndromes called "Smith's Recognizable Patterns of Human Malformation." I looked up polydactyly and there are a dozen or more syndromes associated with it. You may be able to borrow this book through your local library. You may also be able to get in touch with a medical library in your area that can help you get it, and more information, by using this site: http://www.nlm.nih.gov/medlineplus/libraries.html But better still, have the new geneticist write down the diagnosis for you. You can look it up in the OMIM database yourself(http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim&TabCmd=Limits) then & learn what is known about it using a medical dictionary as a guide. (http://www.nlm.nih.gov/medlineplus/mplusdictionary.html) Genetic problems are some of the hardest to deal with. I wish you luck.
    aquila 1263 Replies Flag this Response
  • Hi - just came across your post in a google search while I was looking for some info to deal with my daughter's feeding issues. She was diagnosed with Noonan's Syndrome at 2 mos old and seems to have a fairly mild presentation. From what you've described and from what I've read, Noonan's syndrome is definitely a possibility but there is wide range of genetic disorders and I'm no expert.As for medical care, we live in Lexington, KY - home of Dr. Noonan. We have had excellent and diligent care from the doctors at University of Kentucky Chandler Medical Center and at Central Baptist Hospital. My dd's cardiologist actually was a partner with her before Dr. Noonan "retired" (I say in quotes because she is ever present around the medical center). We also had the privilege to be seen by and exceptional geneticist here - most caring and understanding of our fears. If you do not have success where you are and would be interested in making a trip to Lexington, I would gladly give you contact information.God bless you in your vigilant fight for your daughter. PS - There is a Shriner's Children's hospital in Lexington also.
    Anonymous 42789 Replies Flag this Response
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