Lorna's Signs and Symptoms

Some of you haven't seen Lorna's whole list of signs and symptoms, so I thought I would share with you all. Now I realise that many of the medical terms may be a different language to some of you. I use this listing method on SWAN USA's website for the our children's page to allow doctors to view and potential give input on things to look into. I will also take this oppertunity to explain signs and symptoms.

What is a Syndrome?

A Syndrome is a group of signs, symptoms, or features that occur together and create a picture which may suggest the presence of a particular medical condition or disorder.

Symptoms are subjective evidence of a medical condition that are experienced by a patient and reported in the medical history such as pain, nausea, or dizziness.

Signs are objective evidence of a disorder that a physician or nurse can recognize during a physical examination such as wheezing, visual impairment, or a seizure.

Lorna's Signs & Symptoms

Build / Stature
- Short Stature
- Below the 5%
- Low birth weight at full term (4lbs 13oz)

Head
- Microcephaly (42cm)
- Plagiocephaly

Face
- Facial asymmetry
- Poorly formed philtrum

Ears
- Lowset ears
- Left ear is hypoplastic with over folded pinnae
- Right ear is cupped shaped with over folded pinnae

Eyes
- Ptosis on left eye
- Anisometropia
- Right congenital superior oblique palsy (strabismus)

Nose
- Large Nasal Polyp removed on 1/29/08
- Alae nasi is hypoplastic
- Prominent nasal bridge

Mouth
- Thin upper lip

Teeth
- Multiple impacted teeth
- Cross bite
- Late eruption 12months

Nails
- Terry's Nails

Chest
- Nipples hypoplastic and laterally displaced, in early childhood
- Pectus excavatum

Abdominal
- Umbilical hernia

Upper Limb
- Mild 5 finger clinodactyly
- Long tapering fingers
- Bridge crease on right

Skeletal
- Over Pronation of Ankles (new finding 2008)
- Delayed bone age of more than 3 years
- Scoliosis, slight
- Abnormal skull shape

Skin
- Multiple warts on face, hands and feet for a period of 4 years

Alimentary Tract
- Chronic
- Gastro Esophageal reflux

Cardiac
- Atrail septal defect closed on its own at age 4

Vascular
- Raynauds Phenomenon or Acrocynosis

Muscle
- Contractures

Hematological System
- Immune Thrombocytopenic Purpura (low platelets) for 6 months

Neurological Structural
- Small Brain

Neurological Functional
- Dysarthia, Apraxia
- Mild to Moderate Delayed in all areas

Laboratory Test and Findings
- Townes Brocks Syndrome SALL1 gene (pending)
- CHARGE Syndrome CHD7 gene (pending)
- Treacher Collins Syndrome TCOF1 gene (pending)
- Goldberg-Shprintzen Syndrome KIAA1279 gene (pending)
- SNP Array (pending)
- Comparative Genome Hybridization (Feb 2005, Normal)
- 22q11 (FISH) (Normal)
- Chromosome analysis (Normal)
- Subtelomeric FISH probe study (Normal)
- Skin biopsy fibroblast (Normal)
- Fanconi Anemia (Normal)
- MRI - small brain

Overview of visit to the Undiagnosed Diseases Program

This is an overview of our visit at the NIH. I’m still waiting on reports from some of these specialists. I will update it as they come in.

We were seen by the following;

• Genetic Counselor: Was a main team member and in charge of our stay
• Physician Assistant: Was a main team member and had to take charge when GC was sick
• Neonatologist: Was also a main team member
• Audiologist: Mild high-frequency hearing loss in at 8000 Hz
• Dentist: Has many baby teeth, a panorama view shows some impacted teeth
• Speech Pathologist: Has more abilities with her speech that she isn’t using, need behavioral plan to get her to use more words to verbalize sentences.
• Ophthalmologist: Questioned small optic nerve, waiting on report.
• Dermatologist: Leukonychia, may be consistent with Terry’s nails versus half and half nails.
• Physiatrist: Fitted for orthotics, about 3/4 lift on left.
• Physical Therapist: New exercises to stretch hamstrings.
• Genetic Counselor: Brought in to get more opinions on the case.
• Genetic Counselor: Family History
• Gastroenterologist: Misplaced rectum, waiting on report.
• Ear, Nose and Throat (ENT): Waiting on smell test
• Neurologist:
• Nutritionist:

Tests that were preformed

• Skeletal Survey: 23 views most normal
  Pelvis: Small exostosis (formation of new bone) left inferior pubic ramus.
  Skull : Overgrowth frontal teeth with impaction of multiple other teeth, pituitary fossa appears small
  Bone age: She is 12yr 8m, skeletal age between 10 and 11.
• Urine:
  Hemoglobin: +1
  Ketones: trace
  RBC: High 81 / Later normal
  Urea Nitrogen: High 1918
  Calcium: Low <1.25>
• Blood:
  Creatine: Slightly Low 0.53
  Albumin: Slightly High 4.4
  Magnesium: Slightly High 1.04
  Platelet: Low 157
  Monocytes: Slightly Low 4.5
• Ultrasound: All normal, spleen, liver, kidneys, pancreas, gall bladder
• Townes Brocks Syndrome
• Charge Syndrome
• Goldberg-Shprintzen Syndrome
• Treacher Collins Sydrome
• SNP Micro Array
  

Day 5 / Undiagnosed Diseases Program

We are on day 5 of the program. We only have a few things to do today and are wrapping up. We had a 8:30 am wrap up meeting with Dr. Gahl, Gretchen, Kathrine and Orna. I know this is the first time I used their names. Gretchen, Kathrine and Orna were the main team members on Lorna’s case and we had seen them many times throughout the week. There is nothing really new to share with you about the wrap up meeting. We will wait for results to come in, some will take a month and others will take much longer. Since this is a research program there it is still likely that we won’t get a diagnosis, but I can at least say that we have done what we can to figure out what is the cause of all her symptoms. It was also very beneficial to see some of the top specialists in each field. They will not forget about Lorna’s situation and will continue to think about possibilities for her.

At 10:00 am we had a photo section, they took pictures of Lorna’s face, ears, hands, feet, and chest (she has pectus excavatum). We also had some shots of me and her.

At 10:30 am it was my turn to get blood work done. That is part of the SNP microarray testing; they need blood from John and me. The SNP microarray will look at Lorna’s DNA and see if there are changes in certain areas, everyone has differences in their DNA. If they find differences they will look at mine and Johns to see if we have the same differences, if we do then it doesn’t mean anything. If we don’t then they will have to look at that area closer.

We were done with everything at about 12:30 pm and went back to the Children’s Inn to eat Lunch. We also started packing to prepare for leaving the next day.

We went on a field trip with the Children’s Inn at 3:30 pm. Washington DC is having a cherry blossom festival this week end. So we all went to see the cherry blossoms and were able to stop at the Lincoln memorial, Veteran memorial and Korean memorial. We also saw the white house as we drove by, traffic was slow so we were able to see it pretty well from afar. We were driving on Constitution Blvd. We didn’t get back until 7:30 pm.

Day 4 / Undiagnosed Diseases Program

We are on Day 4 now. We started off with putting emla cream on Lorna’s arms at 8:00 am, so that we could to a blood draw, Emla cream by the way is a numbing cream. Lorna did well with the draw, of course she was scared but did well. They drew about 6 tubes for; regular labs, comprehensive, olga micro array (I think it is olga), gene marker for Townes Brock Syndrome, gene marker for CHARGE syndrome, and gene marker for Treacher Collins Syndrome. We will see what comes of those, she has similarities with CHARGE Syndrome and Townes Brock Syndrome but I don’t see much of Treacher Collins Syndrome. I have always liked to look at a particular article because it explores some of the syndromes with ear malformations; I’m going to ask tomorrow about some of the other ones. The articles title is Syndromic Ear Anomalies and Renal Ultrasounds, click on the words and you can see it.

We then went back to the orthotics guy to show him how Lorna’s shoes fit on her with the orthotics. We were also suppose to have an appointment with the occupational therapist at 10:00 am but the blood drawers were over an hour late, so we missed it.

At 12:00 we had a GI (gastroenterologist) come to our room. She went through the history of constipation and reflux with Lorna. She did a simple examination and then a rectal exam. She measured the rectum and the vagina and said that they were closer than they should be, suggesting that the rectum is misplaced. She thought that this would likely be the cause of her chronic constipation. It may be helpful for the doctors to know if she has hirschsprung’s disease, which affects bowels and can be a cause constipation. But that involves doing a biopsy of the tissue, not fun.

At 1:00 pm we went up to the ENT and did a smell test, didn’t hear yet what the results of that were. She also looked at Lorna’s resent CT scan to see if there was any major narrowing of the choanal area (back of the nose). This sometimes can be related to Charge syndrome. There were no signs of narrowing back there to consider possible choanal stenosis.

At 2:00 pm we had a neurologist visit us, she did an exam and didn’t have much to add about the situation. However it did take a long time going through the history, yet again.

At 3:00 pm we saw a nutritionist. We again went through the history, she thought Lorna was getting enough protein but maybe she should start taking some multi vitamins again, to help with not her not having a lot of vegetables.

We were done a 5:00 pm but would have been done at 4:00 pm if the nurse would have brought in the urine cup so that Lorna could give more urine to be tested.

We went back to the Children’s Inn and had some leftovers for supper. They then had a story art program for the kids and we then watched a movie with another family.

Day 3 / Undiagnosed Diseases Program

We are now on day 3 of our NIH visit with the undiagnosed diseases program. The morning started a little later with our first appointment at 10:00 am, so Lorna and I were able to enjoy breakfast at the Children’s Inn. We went to the Clinical Center early, which by the way is across the street, so that I could get food vouchers. It was a rather large amount of money that was given to me, which was great for the end of the day, I will get to that.

So our first appointment was with the physiatrist, he examined Lorna and said that she is doing physically well other than tight hamstrings and one side of her pelvis is higher than the other. So he brought in another person to get her fitted for some orthotics, I think it ended up being ¾ of and insert. The orthotics will also help with her over pronation in her ankles. It was suggested that we take the metro to the shoe store to get some new shoes for the orthotics. We then had a consult with a physical therapist who also said the same things; she gave us some different exercises that Lorna can do herself to help with those tight hamstrings. They said that if we don’t get those looser she will likely get back pain in the near future. We were done with this at about 11:30 am but needed to be back at 1:00 pm to get the orthotics.

In between that time we were able to order lunch at our room, we were also met there by the nurse practitioner and the neonatologist. They wanted to discuss more about Lorna’s constipation to see if we needed to add a GI consult. We did end up deciding to do get one.

At 2:00 pm we headed to radiology to have ultrasounds done. They did and ultrasound of many things inside her such as; kidneys, liver, and spleen. I didn’t hear what they found or how things look so I’m sure that will come up soon. We then went back to the room.

Just before 3:30 pm the genetic counselor brought in a geneticist from the local Children’s Hospital, just to get a few more eyes to look at Lorna. We had some great discussions. We were then to have a different genetic counselor come in and do the family history part; we spent an hour going through the health of our extended family. Our day at the Clinical Center ended at 5:00 pm.

We then rushed off to go to the shoe store to get Lorna a new pair of shoes for the orthotics. It isn’t an easy task to go off to the store when you’re in a city. We had to take a shuttle to the metro, go down what appeared to be a five story escalator, buy some tickets for the metro, go down more escalators and finally get on the metro. It was raining to so we had to take umbrellas. We stopped for diner after we went to the shoe store. Coming back we had to go through the same things and go through security to get back into the NIH campus. Lorna didn’t like those escalators nor did I. We got back in time for Lorna to sit at the book area for a little while before we called home to talk Cloey, Jadon and John, we miss them so much. It’s hard to explain but my emotions are right on the end of my sleeves, meaning I get teary eyed very easily. This isn’t typical for me. I think because it is hard to continue to have Lorna looked at over and over she gets very fearful that something bad is going to happen. She has said many times this week “hold me mom” when she is going through all the probing and prodding.

Day 2 / Undiagnosed Diseases Program

Our second day started at 8:00 am after we grab a quick muffin, milk and coffee. Our first stop was with speech pathology. The speech therapist asked some questions and talked with Lorna a bit, she had already looked through the files that we had sent. I didn’t send any of her IEP’s or her recent evaluation, I didn’t realize that we would be seeing therapists. I did however bring those things with us so they can view them. She expressed a need to have a behavioral plan of action for her to use more words for sentences even if they aren’t understandable. Currently Lorna mostly expresses with 2 to 3 words, she doesn’t use I, we, me and the other common words used in conversation. If she does it takes her a long time to get it out and needs some prompting.

At 9:00 am we visited with the ophthalmologist, we were there until 2:00 pm. We did the regular eye exams and they used some other equipment to test the eyes in a different way. She had photos of her eyes both inside and outside. In the end the doctor stated that he found the same things that were reported by her current ophthalmologist. He was wondering about the optic nerve, whether it was smaller than it should be. So they will be measuring it by way of photos to determine for sure. He also ask if she has a sense of smell and mentioned CHARGE syndrome, he said that he wasn’t suggesting that’s what she has but just something to look at with the similarities. He will bring that up at with the team. Some of you may remember that CHARGE Syndrome was suggested early in her life. They now have a gene test however it doesn’t show up in all the cases of CHARGE Syndrome, but has been found in many cases.

So at 2:00 pm we were finally able to go have some lunch quickly before our 2:30 pm appointment with Dermatology. The Dermatologist was interested her finger nails again, he was going to do some research on that to see what he can come up with. He mentioned that he usually has seen that type of finger nails in cases where there is some organ failure, I don’t know what that means but we will see.

We headed down to x-ray at about 3:00 pm. Lorna had to have a skeletal survey, this means she needed to have x-rays of all her bones. This of course took a while to do but wasn’t too bad. Lorna was such a trooper through all of this. She didn’t complain too much and was very cooperative through the eye drops, pictures and x-rays. I sure felt drained along with her by the end of all this.

4:00 pm we headed back to our room and was able to meet Dr. Gahl, who is in charge of the program. We didn’t spend too much time talking with him; we were ready to go back to the Children’s Inn. Which we ended up doing at 5:00 pm. We decided to take a grocery trip, which is something they offer several times a week. Again these are all volunteer people who pick us up and take us to the grocery store so that we can purchase items to keep in our cupboard or refrigerator. We picked up some of Lorna’s favorites; strawberries, cucumbers, ham and cheese sandwich and life cereal. I’m still very amazed by the Children’s Inn.

Day 1 / Undiagnosed Diseases Program

The morning came real fast since we went to bed near 2:00 am. We reached the admissions office about 8:30 am and without eating breakfast. They have it set up interesting where we are admitted as inpatient so we have a hospital room at the Clinical Center but are allowed out on pass to the Children’s Inn when we are done for the day. This allows us to order meals and have a place for the doctors to talk with us. We are sharing a room with another child who is also attending the Undiagnosed Diseases Program.

We started the day off pretty quickly. As soon as we got into the room a genetic counselor, a neonatologist and a physcian's assistant followed. They were all so wonderful and ran through some details about the process. The genetic counselor commented on how well put together Lorna’s records were. I did it chronologically in access and had links to pdf files of the reports if I had them. Then it was on to prenatal history, the history of Lorna’s birth and early infancy. That was from about 9:30 am and 12:00. At 12:00 Lorna saw an audiologist and did an audiogram and hearing test. They said she has some hearing loss in the high frequency sound; this is new since she had the test done 3 years ago. It has been something that we have checked because of her ear shape doctor immediately think of potential hearing issues. This will be something that we will have to keep an eye on. They suggested that we may look into doing an ABR, which has never been done before. At 1:00 pm she saw a dentist he didn’t see anything indicative that would help with diagnosis, but we were able to do a panorama x-ray of her teeth which show a lot of delays and some impacted teeth. She was so great with this process of examining her teeth; they also had to stretch her lips out for several photos. By the end of this it was 2:00 pm, so we took a well needed break. Lorna and I went to the cafeteria and had a bit to eat since we didn’t have a Lunch. We went back to the room and we were able to put in a movie for her and I got to relax. The 3 of them came back and did a head to toe exam of Lorna, they are very intrigued by her finger nails they are half white and half red. If I wouldn’t have forgotten my camera I would have been able to add a photo. I will add one at the end when I get all the reports and summaries of our time here.

The day was done at 4:00 and we were able to come back to the Inn and do some playing in the play area and reading books and of course eat supper. The Children’s Inn is amazing; Lorna and I haven’t had to endure staying in this type of place. It has been a wonderful experience so far. They have volunteers here helping at the desk and managers staying the whole night. They help everyone in so many ways and some families have to stay here for a very long time. It is nice to know that there are so many caring people.